Vanessa Weisbrod (00:02):

Welcome to season two of Raising Celiac, a podcast dedicated to raising the standard of education, awareness, and research on celiac disease and related autoimmune conditions. We have some exciting changes for this season. The Boston Children’s Hospital Celiac program has teamed up with the Celiac Disease Foundation to expand the reach of our educational podcast. Our goal is simple, to provide education to as many health providers and patient families as possible. I’m Vanessa Weisbrod and I’ve started a new role as the chief Education and Community Engagement Officer at the Celiac Disease Foundation. In every episode, you’ll also hear from Janice Arnold, an incredible social worker at Boston Children’s Hospital, who is the voice of our patient stories. Each month on the podcast, we will invite leading experts to dive into a hot topic related to celiac disease and look at how it impacts a patient family, the latest research and offer suggestions for health providers to manage these complex cases. Every episode of the Raising Celiac podcast is accredited by the Boston Children’s Hospital Continuing Education department for physicians, nurses, social workers, dieticians, and psychologists. To claim your credits for listening to today’s episode, please visit DME dot children’s hospital.org/raising celiac. We’ll also drop that link into the show notes. Thank you to the Global Autoimmune Institute and the Celiac Disease Foundation for making this podcast possible. Now let’s get started with this month’s raising celiac patient story.

Janice Arnold (01:42):

At the age of six, Daniel exuded boundless cheerfulness and energy, a vibrant child. He approached life with an infectious zest constantly seeking to delve into the wonders of the world around him, residing in a quaint town nestled in the heart of New Mexico, Daniel found joy in the simple pleasures of outdoor exploration. His days were filled with the excitement of gathering the renowned New Mexico red rocks and frolicking through meadows adorned with colorful wild flowers, though often returning home covered in mud from his outdoor adventures. Daniel’s parents cherished him wholeheartedly. It seemed like out of nowhere, Daniel began experiencing frequent bouts of stomach pain, bloating, and more fatigue than usual. At first, they thought it was just a phase. He was starting to eat more adventurous foods and had recently started kindergarten, maybe things would level out. But after several months of not feeling well, his parents made an appointment with the pediatrician. The pediatrician ordered a series of blood tests to see what could be causing Daniel’s symptoms. One of those tests was the tissue transglutaminase antibody tests for celiac disease. It came back positive more than double the upper limit of normal. The pediatrician immediately referred Daniel to a local gastroenterologist.

Vanessa Weisbrod (02:57):

Celiac disease is an autoimmune disease. The name celiac comes from the Greek word for abdominal, and the condition is a lifelong intolerance to gluten, A protein found in wheat, barley, rye, and also in oats that have not been specifically manufactured to be gluten-free. In people with celiac disease, gluten damages the lining of the intestines. This can prevent them from absorbing nutrients and cause a variety of other symptoms. When food enters the stomach, it’s broken down into tiny digestible particles which then travel through the small intestine. The small intestine is lined with vii, tiny finger-like projections that absorb nutrients from the food passing through. With celiac disease, gluten damages the intestine and causes the villi to break down, leaving a smooth lining that can no longer absorb nutrients.

Janice Arnold (03:47):

To confirm the diagnosis of celiac disease, Daniel’s gastroenterologist recommended an endoscopy, a procedure where a thin tube with a camera is inserted through the mouth. To examine the digestive tract, Daniel was scheduled for an endoscopy. Two weeks later after the procedure, the gastroenterologist told Daniel’s parents that he observed some inflammation in the intestine, but they would need to wait until the pathology came back to truly know if he had celiac disease.

Vanessa Weisbrod (04:13):

During an endoscopy, a gastroenterologist can gather several pieces of information to aid in the diagnosis of celiac disease. During the procedure, the physician visually inspects the lining of the small intestine for any sides of damage or inflammation such as scalloping or flattening of the intestinal villi. Small tissue sample biopsies are taken from the lining of the small intestine. These samples are examined under a microscope to look for characteristic changes associated with celiac disease like villous atrophy, increased intraepithelial lymphocytes, I crypt hyperplasia. The degree of damage to the intestinal lining observed during the endoscopy can help determine the severity of the disease. An endoscopy can also help rule out other gastrointestinal conditions that may present with similar symptoms to celiac disease like Crohn’s.

Janice Arnold (05:04):

One week later, the phone rang. Daniel’s mom was shocked when it was the gastroenterologist nurse calling to tell her that the biopsy for celiac disease was negative. They believed that the inflammation was likely due to a minor infection. They recommended following up in six months to repeat the celiac blood test. If symptoms persisted,

Vanessa Weisbrod (05:23):

Viral bacterial or parasitic infections can cause inflammation in the small intestine. Common pathogens include norovirus, rotavirus, salmonella, kaob, backer, and e coli. Because celiac disease, other food allergies or intolerances can cause inflammation in the small intestine as well. For example, lactose intolerance, milk protein allergy, and certain types of food sensitivities may lead to intestinal inflammation.

Janice Arnold (05:51):

Daniel’s symptoms did not go away. They had months when things felt okay and months when things felt terrible. Over the next three years, Daniel’s health continued to decline. He experienced stunted growth, chronic fatigue, and malnutrition. Despite numerous visits to the gastroenterologist, his condition remained a mystery. The doctor suggested dietary changes and prescribed several different medications, but none brought relief to Daniel’s issues. During this three-year period, his pediatrician kept checking his tissue transglutaminase levels, and each time they were elevated, sometimes only slightly and other times more than five times normal. Finally, Daniel’s parents feeling desperate and determined to find the root cause of his struggle, sought a second opinion from a pediatric gastroenterologist in a neighboring city. The new gastroenterologist decided to repeat the endoscopy with a more extensive set of biopsies. He mentioned that the original biopsies did not mention a biopsy taken in the duodenal bulb.

(06:49)
He described it as a place where celiac disease can sometimes hide. Three days after the new biopsy, Daniel’s parents got the call. The results revealed the unmistakable signs of celiac disease. Daniel’s parents were both relieved to finally have a diagnosis and frustrated that it took three years to uncover the truth. Their new gastroenterologist explained that the first endoscopy may have missed celiac disease if it was only present in the duodenal bulb at that time, and that it was important that he had a repeat endoscopy so it could be identified and treated to prevent the disease from further wreaking havoc on Daniel’s health.

Vanessa Weisbrod (07:26):

Historically, confirmatory biopsies were obtained from the distal duodenum only rather than the duodenal bulb. However, researchers have observed that some patients with celiac disease have histopathologic mucosal changes limited to the duodenal bulb. Only this subtype called isolated bulb celiac disease has been estimated to occur in up to 12% of individuals with celiac disease. Thus, to improve the sensitivity of biopsies and diagnosis, updated pediatric and adult guidelines now recommend obtaining both duodenal bulb and distal duodenum biopsies. But how can delayed diagnosis be prevented in the future? Do endoscopists need to separate the biopsies into separate containers for pathology review? Does isolated bulb celiac disease relate at all to the levels of TTG in the blood? We’ll discuss this and more on today’s episode of Raising Celiac.

(08:24)
Today we talk about biopsies and celiac disease with Dr. Imad Absah from the Mayo Clinic. Dr. Absah is the Celiac disease program director at the Mayo Clinic, as well as the Vice Chair of diversity, inclusion and wellbeing for the Department of Pediatric and Adolescent Medicine. Dr. Absah also serves as a co-chair of the Celiac Disease Special Interest Group for the North American Society of Pediatric Gastroenterology, hepatology and Nutrition. He has been involved in so many national celiac projects and I’m to be able to call him a friend and cos soccer parent as we frequently find ourselves cheering our sons on while together at medical conferences. Welcome Dr. Absah to raising Celiac.

Dr. Imad Absah (09:05):

Oh, thank you for having me. Thanks for the kind words, and yes, soccer is a big deal in my household.

Vanessa Weisbrod (09:11):

We love it, don’t we? Oh,

Dr. Imad Absah (09:12):

We just love it. It’s just too much driving.

Vanessa Weisbrod (09:16):

That is for sure. So before we get into your extremely interesting study on isolated bulb celiac disease, can you tell our listeners about your interest in celiac research and what sparked you getting involved in this area of study?

Dr. Imad Absah (09:30):

This goes back to time of my training as a fellow in pediatric gi, and this is before we had our second child. I saw a lot of patients come to Mayo for second opinion, sometimes third opinion, and truly what their problem was, they didn’t have enough education or they were just told your blood workers is positive, you have celiac or even undergo a biopsy. And then after that there was no guidance or education and it’s a lot to take on if you are a family with a new member who’s going to be on a restricted diet, it’s a major lifestyle change and a lot of those kids had some persistence symptoms. So I felt like there’s a gap. There’s a gap in knowledge, there’s a gap in care and there’s a gap in research unfortunately in celiac disease. And I felt that is something that I can really help with.

(10:15)
And then a little bit after that, we had a child, our second boy who’s a soccer player who has food allergies and some other GI problems and he’s on a restricted diet and I truly understood what does it mean to be the provider and the family as a patient who needs to be on restricted diet. And I think that also the combination made it the right fit I think, and I’m very happy that I chose that and I met a lot of great people like yourself and other collaborators we work with through this journey and I’m very happy with it.

Vanessa Weisbrod (10:47):

That’s so amazing. It always helps when you can sympathize with what your patients are going through. So can you talk to our listeners about your recent study on isolated bulb celiac disease in children? What were your objectives and key findings?

Dr. Imad Absah (11:00):

There has been many updates to the way to Diagnos celiac and the approaches, and there’s a lot of debate. You do biopsy, you don’t do biopsy for the most part when you do the biopsy. The leasing guidelines always said you could grab a biopsy from the duo. And for the listeners who are not familiar with the GI anatomy, the polyp is a very, very short segment of the small intestine that basically is the first part right outside the stomach before the du addin. And historically people have avoided grabbing a biopsy from there because there the tissue tend to be a little bit more commonly irritated by the stomach acid. There are glands called Bruner glands that produce acid than alkaline solution to protect the small intestine from the acid. So people said, well, there’s always some changes. It’s not clear if it’s ciac or not, we’re not going to do it.

(11:49)
But then the guidelines said, no, do the biopsy, but didn’t us, we need to separate those biopsies or not. And I’ve had seen many patients where they have missed the diagnosis because someone just bypassed the bulb, went straight to the second or third party they want and grabbed the tissue or they grabbed the biopsy and not sure where it is from. And I thought this might be just peptic du adenitis or mild rotation from the acid. It’s not celiac and the diagnosis was missed. So our objective was to look at our practice in two centers, Mayo Clinic and University of Illinois, Peoria, where we looked at all the pediatric celiac biopsies that we know we have separated the about biop. And then I wanted to answer two questions. Did we increase the sensitivity and find more patients? And was there cases where it was confusing, where the biopsy was taken from and separating them made it easier for the pathologist to identify?

(12:46)
And the short answer is yes, we increased the identification of patients with celiac that would have been otherwise missed by at least 10%, I’ll say 10 to 15%. And about one third of the time the pathology was blinded to where the biopsy was taken from and they didn’t know. So this would have been attributed as a normal variation of the bulb and a diagnosis would’ve missed too. So I think the key findings are, at least in patients who have milder symptoms and their celiac serology is less than 10 times the upper normal. If limbic, they absolutely need to separate their blood bios.

Vanessa Weisbrod (13:24):

That’s so interesting. And you think you’re going in for a biopsy to confirm celiac disease, you often don’t think about the fact that if the biopsy is taken in the wrong place or not taken in an additional place that you could miss the diagnosis and be told you don’t have celiac disease when in fact you really do. So is there a difference between the classic celiac disease that you see in the duodenum and the isolated bulb celiac disease, either clinically and pathologically or both?

Dr. Imad Absah (13:54):

That’s a great question and I want to add one more thing about what you just said, which is a hundred percent accurate. Yes, number of biopsies is important, not only where are they from, and also number celiac is patchy and you could miss it. And I would hate for any patient to undergo sedation and visit a procedure and come out and say, oh yeah, we didn’t find it. And that’s a lot of cumbersome, burdensome and patients continue to deal with unfortunate symptoms. So yes, location and number biopsies is important. There have been a previous report and they called it previously ultra short Celia, meaning it was in this ultra short segment of the bowel that’s called the WA bulb. There was a few other studies they call it like we did in our paper, which is isolated bulb celiac disease, which I think is more appropriate.

(14:38)
I’m not sure the ultra short, I like that part. And those patients actually tended to be older at the age of diagnosis, at the time diagnosis. And they also had milder symptoms like they had less amount of diarrhea and anemia, which I think may have contributed to them being missed for a longer time or had a delayed diagnosis, which I think may be why they are a little bit older at the time diagnosis. So that’s from clinical standpoint. From lab standpoint, 90% of the patients who we identified who have only isolated bulb only in the bulb disease, celiac disease, their serology was about three times apart. The normal limit only if the normal limit, let’s say was four, most of those people were like twins or 15 only. And a lot of times that would be regarded, oh, it could be false positive. And that’s again another reason why they would be missed.

(15:30)
Where most patients who would have what’s called conventional or typical celiac disease, their TTG was much, much higher. Anywhere from 10 15 times upper range of normal pathologically. Those patients for the majority, they have only disease in the bone. There was nothing beyond that. Now in the histology and pathology of celiac disease, there’s this commonly used classification that’s called marsh classification and not trying to use very complicated tables or classifications, but it just goes about the stages of inflammation. And the first stage, these finger-like protrusions that we call vili, they’re still intact, but there’s a little bit of increase why the blood cell is called lymphocyte and that itself doesn’t justify a celiac diagnosis. So some of those patients with isolated bowel were about 30% of them had some lymphocytes, but there was absolutely removal ine. So where the flip of that most of the patient who had diffused disease had involvement of the bulb at the same time. Meaning again, if you have a diffuse disease and your titers are very high, if you get a biopsy from bulb or dis though you’ll find it. But if you have a lower value, you have milder symptoms, you could easily miss it if you do not get the bulb biopsy by itself.

Vanessa Weisbrod (16:44):

So interesting. So can you elaborate on the significance of identifying isolated bulb celiac disease early in a child’s development and are there any implications on their growth or development?

Dr. Imad Absah (16:56):

So I want to actually bring up a recent case that I took care of after we actually published the data and I felt very happy that I can share some data with the family. We had a kid that I saw for a second opinion and wasn’t told, you don’t have celiac and has been dealing with nausea, dominant pain, a lot of symptoms for a long time. And when I looked at the biopsies, I really couldn’t tell whether they’re taken from, it just says to what? And they didn’t label it that I couldn’t tell and I also couldn’t tell where they were obtained from. So I don’t know if they did the right thing or not, they may have and I just couldn’t figure it out. So we had this lengthy discussion, I showed them what we’ve done and I said the other option is unfortunately to go another endoscopy to see what’s going on.

(17:36)
And we were able to find the diagnosis. So they were very happy and the patient had a lot of almost tearful emotions about oh my goodness, and a few weeks into it they got better. That’s amazing. I say for the most part, development and growth is very important in children in general and I don’t think there’s major difference between celiac and isolated to the ball board. Conventional, both cohorts, if they don’t get diagnosed, they’re going to continue to deal with symptoms, they’re going to have problem with malnourishment and then again it’s a major pressure on them and their family. The quality of life is not good when you’re having symptoms and you can’t identify what’s goes and how to take care of it. And I always say if you get diagnosed very early, you’re going to deal with this much longer unless we take care of it. Your brain is growing, your bones are growing and addressing this early is very important and paramount to prevent complication down the earth.

Vanessa Weisbrod (18:33):

So true. It’s so true. Our patient here, the same story of they suspected celiac disease, did the biopsy, we’re told that they didn’t have celiac disease, but in fact that they did. And then it was years later of suffering from symptoms to really get to that answer, it’s hard enough to get diagnosed and there is so much trust that we put in our providers to do the right thing. And so I really hope that you talking about this, other providers will hear it and hopefully not miss those bulb biopsies. So how common is this isolated bulb celiac disease in pediatric patients compared to classic celiac

Dr. Imad Absah (19:14):

Data is limited. I would say maybe four studies including ours, maybe three to four studies, and that range from 12 to 15%. So in previous paper it was about 12% In the cohort that we looked at, which was about 244 patients, 15% have disease only limited to the bone. And again, those patients would have been easily missed if they didn’t have the bone biopsy obtained. So I would say one out of 10 to two out of 20, something like that.

Vanessa Weisbrod (19:43):

I mean that’s a huge number. We were just talking about the celiac cruise where there are 700 people with celiac disease. If one in 10 of those people didn’t have that biopsy taken, we would’ve missed a whole lot of people who could be on a gluten-free cruise.

Dr. Imad Absah (20:01):

Yes, and like you said, when the patient have big trust in us and we have been always, and we went to this field because we want to make people feel better and we want to make sure that we’re doing the best with the least invasive and these expensive thing. So the goal of this whole thing was to do the right thing from the first time so you don’t have to go back again or subject your patient to a gluten challenge of longer duration of symptoms.

Vanessa Weisbrod (20:27):

Absolutely. And I also wonder, we hear all the time about people who had a celiac test and then it was negative but they took gluten out of their diet and they feel better if some of these may have also been a misdiagnosis.

Dr. Imad Absah (20:42):

Absolutely. And each case is different and it has to be looked at by its own data and what been done and how that initial diagnosis was made. But yeah, that is absolutely true.

Vanessa Weisbrod (20:51):

Did you see any notable difference in symptoms and presentations between those with isolated bulb celiac and classic celiac?

Dr. Imad Absah (20:58):

So our cohort had about 244 patients as I said earlier, and about 15% of them we had isolated poly. So the sample size wasn’t as big. That I can tell a lot of differences. But if I put all the data together, what has been published before from Europe and from us, most of those patients had about the same number of symptoms in total, like how many symptoms did you present with? But they tend to be mild, they tend to be some mild nonspecific symptoms. They tend to have very subtle nausea or something like that. So that could be easily disregarded or missed where patients who had diffuse celiac or conventional celiac, they tend to have more symptomatic like diarrhea, anemia, more overt symptoms of malabsorption and maybe that’s why they get diagnosed sooner or earlier at their ages, usually younger at the time diagnosis.

Vanessa Weisbrod (21:50):

What about genetics? Any differences in the genetics of the patients?

Dr. Imad Absah (21:54):

We didn’t see much of genetics. There was something hinting toward DQ eight, but we truly, we didn’t find that much of difference in our cohort.

Vanessa Weisbrod (22:03):

Got it. Are there any specific risk factors or predisposing conditions that would be associated with development of the isolated bulb celiac?

Dr. Imad Absah (22:11):

I don’t think we have enough data to know the answer to that. I actually am curious to know what’s different about why some people have disease limited to the bulb and why others are diffused. And I think there’s one thing that hasn’t been answered yet and might be hard to answer, which is what happened with those patients if they don’t get treated, do they finally move to a conventional diffuse celiac or not? And I don’t know that we know the answer unless you actually biopsy them and keep them on the diet and they continue to have problems and see what happened, which no one would do. So it’s very hard to answer. I do think they are a unique type of patients. They have different presentation, they have mild or serology and milder symptoms, but I don’t know why it stops at the pub. In some patients where it has diffused presence in on the other patients, they do tend to be older and we know from a lot of previous data that younger patients have more symptomatic celiac and that’s why they get diagnosed younger. So yeah, more to do and more to learn I think with celiac research.

Vanessa Weisbrod (23:11):

Your next research project, of course the only current treatment for celiac disease is a gluten-free diet. Did you notice any difference in response to the gluten-free diet in the patients with isolated bulb celiac?

Dr. Imad Absah (23:24):

We did not. They both got better in a pretty similar timeframe, like weeks and months into recovery starting after the gluten-free diet transition. The serology in our cohort, it took about similar time. So if you look at the sample size and look at the rate, how many months did it take to normalize their TTG? It was pretty similar. It was about 15 months. Now there was a different study from Europe said that these kids, their serology normalize faster. We didn’t see that. So I think the response to gluten-free diet is pretty similar between both cohorts,

Vanessa Weisbrod (23:55):

But the message is the same strict lifelong gluten-free diet.

Dr. Imad Absah (23:58):

Yes, absolutely. Until we can start offering our patients something else, that is the only message we are doing now.

Vanessa Weisbrod (24:05):

Absolutely. So are there any ongoing or future research initiatives planned to look at this isolated bulb in celiac disease in kids or potentially in adults?

Dr. Imad Absah (24:15):

I think what we do in pediatrics also affect adult practice. So I know they are thinking about do we need to separate biopsies or not? And I think having a larger cohort like adult celiac patients would be very informative in one adult study before they found those patients have different type of age group like we did. So I think bigger dataset will give more information and hopefully can answer some of the questions that we couldn’t answer today. So yes, hopefully future collaboration including adult data and pediatric data can shed more light on what’s different about those isolated celiac patients and how do you treat them differently?

Vanessa Weisbrod (24:55):

For sure. So as you and I have talked about, it’s really hard to listen to stories like Daniel’s and the patient that you spoke about as well. No one wants to see a child go undiagnosed for so long. What practical recommendations would you offer to healthcare professionals for identifying and managing isolated bulb celiac so that other kids don’t have to go through this experience?

Dr. Imad Absah (25:16):

Well first advice is always listen to the patients and the families always revisit the initial diagnosis. If they were told that always there’s no harm in really looking at everything that has been done and then put those together and decide how to proceed. In the celiac ward, a lot of patients are misdiagnosed or they are waiting longer to be diagnosed or sometimes other way around. They were told they don’t have celiac but they don’t and you need to help them with that. In the isolated bone celiac patients, they all had mire symptoms. They all were older at the time of diagnosis and their TTG values were less. And then the era where we talk about maybe we don’t need a biopsy when the TTG is more than 10 times upper range of normal, if your patient doesn’t have a TTG value that high and you are going to proceed with an upper endoscopy to confirm the diagnosis, please obtain at least one, preferably two biopsies from the bowel and I prefer that you separate them so the pathologist knows that this is a bowel biopsy where the others are from the distal wain to help improve the diagnosis and hopefully avoid further scoping a further workout for your patients.

Vanessa Weisbrod (26:25):

I think also for data collection too, right, having them separated, will more long-term help you be able to look back at this?

Dr. Imad Absah (26:32):

Absolutely, because when we wanted to do this, initially we had about almost 500 patients, but when we wanted to look specifically at the isolated bulb, we had to only include the ones that their bowel biopsy separated. And that was 2 44. And when I was talking to Mike, I saying imagine if we had the whole 500 sample to look at. So yes, for data for cleaner cohorts and more informative information, that would be very helpful.

Vanessa Weisbrod (26:58):

So before I let you go, I want to mention to our listeners how truly amazing I think you are. As I mentioned in the intro, co-chair of the celiac disease special interest group at NAS began. Can you tell us more about this group and some of the things you’re working on across North America?

Dr. Imad Absah (27:14):

Well, I think you are biased a little bit because we are good friends, but thank you for the kind words. So Celiac interest group inside the National Society for Pediatric GI is a cohort of pediatric gastroenterologists, dieticians, nurse practitioners, and anyone who is actually a healthcare provider interested in providing care to celiac disease. Everybody’s welcome to join our group and those people who are from multiple institutions through United States, Canada and actually a few from Mexico are the people who would like to work with patients with celiac disease, disseminate the education, make sure that the available education out there is up to speed and up to date, provide a platform where we all can collaborate on gathering larger dataset. As we mentioned during this podcast, one of the biggest limitation is having enough data to generate significant outcome. So having multiple people from different institutions throughout the country is great, and the end goal of this is to optimize care for celiac patients, optimize education and generalize it, make it available for everybody, primary care provider, pediatricians, family practitioners, everybody who takes care of people with celiac disease.

(28:23)
We’re working on multiple exciting projects and you are leading very important one of them, actually more than one relating to education and making sure that what we put on our websites is up to speed and up to date. We also are working on two important projects that I really think will change the approach to celiac in North America. One is looking at the different performance of the serology testing in North America. The European guidelines talks about the TTG value and do you midwives here now not. And we are finally trying to tackle that by looking at all the different lab essays or lab testing that we have and predictability of celiac disease and soon to come. We’re presenting this at the digestive disease week and hopefully more to come with that. We’re also looking at what’s called mucosal healing and to certify that celiac disease is significant injury to small bowel where we absorb a lot of our nourishment and attrition and there’s a lot of data to that.

(29:20)
The healing is not a hundred percent like we think it is, and most of this data is extrapolated from adult or small pediatric study. So we’re trying to look at that too, because I think when we put those both together, we could actually say with more confidence, do you need a biopsy or can we sometimes omit the biopsy? Or how do you approach that, which is a very big ask now in the world of celiac disease, there’s a lot more to come from the celiac inter group at NASPA began. So stay tuned and hopefully we’ll update you guys.

Vanessa Weisbrod (29:50):

Thank you so much, Dr. Absah. This has been such an amazing discussion and I’m just so grateful for all of the incredible work that you’re doing. Now let’s find out where our patient Daniel is today.

Janice Arnold (30:05):

Daniel is now 12 years old and thriving in the sixth grade. He is once again filled with cheerful energy and harnesses his energy by running on his school’s cross country and soccer teams. He has no problem sticking to the gluten-free diet and is grateful that he could eat gluten-free food in his school’s cafeteria. In his own words, Daniel says, I don’t really remember the drama of getting diagnosed, but I’m grateful that my parents were advocates for me and found the right doctor to figure out. I have celiac disease. The gluten-free diet is hard sometimes, but I know it will keep me healthy and let me do everything I want to in life. I hope that lots of doctors will listen to this podcast episode so that no other kid has a delay like I did.

Vanessa Weisbrod (30:53):

And now a word from the Global Autoimmune Institute

Global Autoimmune Institute (30:57):

Raising Celiac is brought to you by the Global Autoimmune Institute. We fund scientific research in medical education to improve diagnosis and treatment in autoimmune disease. Please visit our website@autoimmuneinstitute.org for the information and resources you need. That’s autoimmune institute.org. We hope you enjoy raising celiac.

Vanessa Weisbrod (31:22):

Thank you for listening to this episode of Raising Celiac. A special thanks to the generous contributions from the Global Autoimmune Institute to make this podcast possible. A reminder to all physicians, nurses, social workers, dieticians, and psychologists to claim your continuing education credits. For listening to today’s episode, please visit DME dot children’s hospital.org/raising celiac. If you like what you heard, be sure to write a review, like and subscribe wherever you get your podcasts. For more information, check us out on social at Boston Children’s Celiac on TikTok, at Children’s Celiac, on Twitter, or at Celiac Kids Connection on Instagram. Have a great month.

Vanessa Weisbrod:

Welcome to Raising Celiac, a podcast dedicated to raising the standard of education, awareness, and research on celiac disease and related autoimmune conditions. I’m Vanessa Weisbrod, the education director of the Celiac Program at Boston Children’s Hospital. At each month on the podcast, we will invite leading experts to dive into a condition related to celiac, and look at how it impacts a patient family, the latest research and offer suggestions for health providers to manage these complex cases. Every episode of the Raising Celiac podcast is accredited by the Boston Children’s Hospital Continuing Education Department for 0.5 AMA, PRA category one credits for physicians, 0.5 contact hours for nurses, 0.5, ACE CE, continuing education credits for social workers, and 0.5 CEUs for registered dieticians. To claim your credits for listening to today’s episode, please visit dme.childrenshospital.org/raisingceliac. Let’s get started with this month’s Raising Celiac patient story.

Speaker 2:

Jay grew up in a small town about 45 minutes outside of Pennsylvania. He loved acting from the moment he was old enough to know what it was. As a young child, he began auditioning for community theater, and quickly captured roles in Oliver, Peter Pan, The Music Man, Mary Poppins, and The King and I. He took voice and dance lessons and was determined to grow up to become a successful actor on Broadway. Jay was always extremely thin and lanky. His parents always attributed it to his extremely active childhood. He never stopped moving. If he wasn’t in dance class, he was doing jazz moves or tap dancing around the house. He ate like a bird, but never really seemed to be hungry. Jay was genuinely good and a happy kid, and was loved by all of his friends and teachers. Life was good for Jay until he was a junior in high school and started getting extremely smelly gas.

He always felt like he had a lot of gas. But the first time he noticed himself pass what he described as the foulest smelling gas I’ve ever smelled was changing in the boys’ dressing room before a dress rehearsal for the fall musical. He had eaten his school’s Chinese food for lunch and thought perhaps he was coming down with food poisoning. He had stomach cramps and gassed the entire afternoon and evening, and left rehearsal embarrassed and upset with his digestive track. He took Pepto-Bismol before bed and hoped he would wake up feeling better in the morning.

Vanessa Weisbrod:

Though passing gas is entirely normal and an indicator of good digestive health, excessive flatulence can significantly impact a person’s social life, and is a common reason for referrals to gastroenterology clinics. It’s also a common symptom of celiac disease and many other gastrointestinal issues.

Speaker 2:

Jay did not feel better the next morning. The gas persisted, and so did his stomach cramps. His mom took him to the doctor who agreed that he may have a stomach bug. Jay went on for several weeks taking over the counter gas and stomach cramp medications, but nothing really seemed to help. He started having diarrhea multiple times a day, so his mom made an appointment with a local gastroenterologist. At the gastroenterologist appointment, they asked Jay lots of questions about the food he ate, his medical history, as well as his families, ran some blood work, and asked him to return with a stool sample. Begrudgingly, he collected his poop and returned the sample to the lab. About a week later, the gastroenterologist called Jay’s mom and told her that his tissue transglutaminase antibody test was positive and that Jay was severely iron deficient. Jay needed to come in for an endoscopy to confirm a diagnosis of celiac disease.

Jay had the endoscopy two weeks later, and it showed total villous atrophy. He definitely had celiac disease. While Jay was upset with the news that he would need to change his diet, his parents convinced him that he was lucky to have gotten a very quick diagnosis and that it was a disease they could manage.

Vanessa Weisbrod:

There is an average delay of six to 10 years for an accurate celiac disease diagnosis in the adult population. Without a timely diagnosis, celiac can lead to intestinal cancers, type one diabetes, osteoporosis, thyroid disease, anemia, infertility and miscarriage, epilepsy and more. Treatment with a strict lifelong gluten-free diet is required to manage this autoimmune disease. Patients should regularly follow up with their gastroenterologist, even if they’re not experiencing symptoms, to make sure that their disease remains under control.

Speaker 2:

Jay did well on the gluten-free diet and he was relieved that within about a month his smelly gas and diarrhea were gone. He started gaining some weight and grew several inches. By the end of high school, he was accepted early decision into the NYU Tisch School for Performing Arts and couldn’t wait to get to college to work towards his dream of becoming a Broadway performer. He was also excited that New York City was home to many well-known, dedicated gluten-free bakeries and restaurants. He spent his summer before college performing in a summer theater group in Cape Cod, Massachusetts, where he not only fell more in love with theater, but also found some of the most delicious gluten-free food he had ever eaten. We’re talking fried calamari, fish and chips, and even real New England clam chatter. He had the best summer of his life. Jay returned home to Pennsylvania in early August to get ready to start his new life in New York City. But the week he returned home, he came down with a nasty stomach bug and could hardly leave the bathroom for days.

He was severely fatigued and couldn’t seem to shake the virus. He left for his college move-in still not feeling great, but he pushed through because he was so looking forward to this next stage of life. Despite now living in a city full of gluten-free food options and attending a school with copious amounts of gluten-free food in the dining halls, Jay had a rough first semester of school. He had strange looking stools almost every day that he described to his mom as looking and smelling like a pile of tar. His body hurt all over and he had a rash on the front of his shins that didn’t budge with any over the counter creams. He knew he needed to see a doctor but wasn’t quite sure where to begin. He decided to start at his campus health center. He was diagnosed with eczema and told that he needed to improve his dietary intake and make sure he wasn’t inadvertently being exposed to gluten. He was referred to a campus dietician who helped create a gluten-free meal plan that was rich in protein and whole grains.

He started using a topical steroid cream, which slightly helped the rash, but it didn’t disappear.

Vanessa Weisbrod:

Crohn’s disease is a form of inflammatory bowel disease in which one or more parts of the intestinal tracts become inflamed. Crohn’s often affects the small intestine, but can affect any part of that digestive tract, including the mouth, esophagus, stomach, duodenum, appendix, colon, or anus. Though Crohn’s is a chronic disease with no current cure, it is a condition that is highly manageable with the right treatment plan. Medication and lifestyle modifications can minimize or completely eliminate the symptoms.

Speaker 2:

Jay made it through his freshman year of college and returned to Cape Cod for another summer season of musical theater. But shortly into the first production, he started feeling really bad. He made a trip to the emergency room where he was nauseous nonstop for days and started having severe cramping in the lower right area of his abdomen. He was worried he might have appendicitis. His roommate thought he might have a kidney stone because he was in so much pain. His appendix looked okay and he didn’t have any stones on the CT scan, but the emergency room doctor recommended he get in to see a gastroenterologist sooner rather than later. He had noticed some changes that may indicate inflammatory bowel disease. Jay’s understood he had to take his place in the summer show, and Jay’s mom flew up to accompany him to see a gastroenterologist in Boston. The gastroenterologist appointment went well, and Jay had more blood tests, a stool test, and was scheduled for an endoscopy and colonoscopy procedures.

One week later, he had the answer. He had Crohn’s disease. The good news, his celiac disease was well controlled, and his tissue transglutaminase antibody levels were now non-detectable.

Vanessa Weisbrod:

Studies have largely debated the extent of the connection between Crohn’s disease and celiac disease, but all conclude that Crohn’s is more common in those with celiac than in the general population. Overlapping symptoms include abdominal pain, diarrhea, iron deficiency, anemia, and short stature. With this increased prevalence and many similar symptoms, some researchers suggest that patients over the age of 40 who are anemic or who have chronic diarrhea and are diagnosed with celiac disease also have a colonoscopy to test for inflammatory bowel diseases.

Speaker 2:

Life for Jay did not get easier right away. His stomach hurt all the time, and the medications he was taking were not miracle drugs. He felt bloated, hungry, and achy from taking high doses of prednisone. He had good days, and sometimes good weeks and months, but the flareups seemed to get worse every time. He started getting Remicade infusions, which helped his symptoms, but Jay felt stressed, depressed, and anxious all the time. He made the very difficult decision to move from the performance-based musical theater program to the dramatic writing program where he wouldn’t have to worry about needing a bathroom in the middle of a scene. He pulled back socially and felt like the once vivacious version of himself was lost forever.

Vanessa Weisbrod:

A diagnosis of celiac disease or inflammatory bowel disease alone can be life altering and a difficult adjustment for children, adolescents,, and their families diagnosed together, it’s even more challenging. Children and adolescents with a chronic illness are 25% more likely to experience anxiety and depression than others in this demographic. So how can a medical team help young adults living with both conditions have a positive quality of life? How are the treatments for Crohn’s different than the treatments for celiac disease with a gluten-free diet? Do Crohn’s symptoms come and go, or once treated, stay away? What do researchers know about the genetics of these disease aids and the likelihood of passing them on to future children? We’ll discuss this and more on today’s episode of Raising Celiac.

Today, we talk about Celiac and Crohn’s disease with Dr. Scott Snapper from Boston Children’s Hospital. Dr. Snapper is the chief of the division of gastroenterology, hepatology, and nutrition, and the director of the Inflammatory Bowel Disease Center. Dr. Snapper holds the Wolpow family chair and has become the director of IBD research within the gastroenterology division at Brigham Women’s Hospital where he maintains a joint clinical appointment. Additionally, Dr. Snapper is a professor of medicine at Harvard Medical School. Welcome Dr. Snapper to raising celiac.

Dr. Scott Snapper:

It is so great to be here. Thank you for the invitation.

Vanessa Weisbrod:

So let’s start by talking about Crohn’s disease alone. Our listeners are very familiar with celiac, but not quite as much with Crohn’s. Tell us about the common symptoms and what would lead you to test someone for it.

Dr. Scott Snapper:

So the common symptoms of Crohn’s are typically abdominal discomfort, sometimes diarrhea, sometimes nausea and vomiting. These symptoms are not that dissimilar to patients with celiac disease as well, as your viewers know. Those are really the main symptoms. Sometimes it can be weight loss and fatigue, but those are the main symptoms. And Crohn’s really can affect any person of any age, from infancy to the late 80s and even 90s where their diagnoses being made. But most diagnoses are made in really the mid-teens and early 20s.

Vanessa Weisbrod:

So what is the usual process for getting to a Crohn’s diagnosis?

Dr. Scott Snapper:

So typically what ends up happening is somebody who presents with those symptoms that I said, frequent bowel movements, sometimes blood in their stool or abdominal pain ends up being referred to a gastroenterologist. And then a gastroenterologist, typically when they hear that, will most often end up doing either an upper endoscopy and a colonoscopy. And Crohn’s can affect, and I didn’t say this thoroughly, can affect any part of the intestine, from really the mouth all the way down to the anus. Although most people who have Crohn’s have involvement of the latter part of their small intestine called their ileum and the beginning part of their colon. And so to make the diagnosis, most of the time, it is done endoscopically by colonoscopy, and people see inflammation in the intestine. And it really looks like the equivalent of a rash on the skin, except it’s a rash that is in the intestine. And again, it can be either the colon or the small intestine.

And sometimes, because I mentioned this as well, people get an upper endoscopy. And they get an upper endoscopy because, well, first of all, we don’t know what the diagnosis is when we are often going in doing it, but people with Crohn’s can have inflammation in their esophagus, stomach, or in the beginning part of their small intestine called the duodenum.

Vanessa Weisbrod:

So we know with celiac disease that you have to be eating gluten to trigger their disease. Is there a trigger for Crohn’s?

Dr. Scott Snapper:

That is a very simple and very complicated question all at the same time. And so there’s clearly not the absolute known trigger like gluten is for celiac disease. The pathogenesis of Crohn’s sort of sits in this middle of a Venn diagram of people that have genetic predisposition, altered immune system, and diet all together. Risks in either of these categories can end up leading to a Crohn’s diagnosis, but there’s not a very clearly identified trigger. There are some groups, including our own, that have looked at certain viruses that can trigger Crohn’s. There are people that have looked at certain bacterial infections that can trigger Crohn’s, and other risk factors like not breastfeeding as an example, or early use of antibiotics in childhood. But it’s really one of the major unknowns in inflammatory bowel disease, which is what is the trigger.

Vanessa Weisbrod:

So if a patient comes to you and has diarrhea and abdominal pain, how would you decide which conditions to test them for first?

Dr. Scott Snapper:

Yeah, that’s a simple and complicated question all at the same time. The most common reason a gastroenterologist sees a patient is they come in and they’re feeling bloated, and they have alternating diarrhea and constipation. And that’s sort of the most common. And in that case, sometimes one tries dietary alterations and sees potentially if they have an allergy to a particular diet. Actually, testing for celiac disease in that setting is exceedingly common, because as you guys all know, celiac disease affects more than 1% of the population. So simple blood tests, very simple, not costly blood tests can make that diagnosis. So after trying to figure out is this a short-term or a long-term issue, if it’s a short-term issue, sometimes we just follow patients and they may just have a viral gastroenteritis, or patients might’ve eaten something and had a bad reaction to it. But if somebody has had longstanding symptoms, really not days to weeks, but weeks, months, or longer, then we typically do more detailed diagnostic testing.

If somebody has had six months of weight loss, just giving this as an example, but six months of weight loss with diarrhea, often in that kind of circumstance, we will move to an endoscopic evaluation early. And there’s certain other associations with Crohn’s that I didn’t really mention initially, which some patients with Crohn’s and really severe Crohn’s can have blockages of the intestine, or they can have what are known as fistula or tracks that go from one part of the intestine to another part of the intestine. And those kind of things can get picked up by radiologic exams like CAT scans or MRIs. If a ultrasound or a CAT scan or an MRI was done even by a primary care doctor, if they see a signs of fistula or these blockages, they’re called stenosis, or an abscess, we immediately would evaluate for Crohn’s.

There’s also sometimes lab testing that is done that can suggest inflammation in general. And those are lab tests that are called C-reactive protein or an erythrocyte sedimentation rate. And there’s another stool test that can be found, which is called fecal calprotectin, or fecal lactoferrin. And if those are elevated, often, we move to endoscopic evaluation.

Vanessa Weisbrod:

Great. So there’s lots of exciting research happening right now looking at predicting celiac disease. We’re obviously not there yet, but perhaps in the future. What about with Crohn’s? Can you predict if someone will get it?

Dr. Scott Snapper:

The most significant risk factor for developing Crohn’s or ulcerative colitis, which is another type of inflammatory bowel disease related to Crohn’s, the greatest predictor is actually having a first degree relative, a sibling or a parent that has Crohn’s disease. That’s still the greatest predictor. There are rare genetic mutations that can be our predictors of Crohn’s. And now just like in celiac disease, there’s lots of studies that are trying to come up with blood tests that might subsequently predict that someone would develop Crohn’s. And there’s certain bacterial changes that live in an are intestine. They’re called the microbiome. So there are changes in the microbiome that some have found predict subsequent Crohn’s, and there’s certain lab tests that some people have found predict subsequent Crohn’s. But in reality, those tests are not very, very good. And so unless someone has an exceptionally strong family history and symptoms, or they have a rare genetic diagnoses, we don’t do colonoscopic testing upfront looking for it.

Vanessa Weisbrod:

So a topic of recent interest for researchers has been the genetics involved with IBD and celiac disease. Research has found common genetic differences between celiac and Crohn’s. Can you tell us what’s known about the link between them?

Dr. Scott Snapper:

Yeah. As is well known to your audience, there are lots of immune mediated conditions that are associated with celiac disease, and whether that’s thyroiditis, and there’s microscopic colitis and type one diabetes, just to name a few, it is becoming clearer that patients with celiac disease do have an increased risk of getting Crohn’s, and perhaps to a little less of extent, that patients with Crohn’s disease have an increased risk of getting celiac disease. And there’ve been lots of small studies, and then there have been larger studies that have put together all these small studies that are called meta-analysis, and they have suggested in both ways, that if you have celiac, there’s an increased risk of Crohn’s.. And if you have Crohn’s, there’s an increased risk of getting celiac disease. And there are certain genetic abnormalities that are linked with both of them, so with both celiac disease, as well as Crohn’s disease. Although those genetic links are pretty common, so just having those mutations that are associated with that risk, that alone would not lead someone to test for either celiac disease or Crohn’s disease.

But it really is clear now that if you have one or the other, there is an increased risk. And your listeners may be very curious to say, “Well, if I have celiac disease, should I get tested for Crohn’s?” Or, “If I have Crohn’s disease, should I be tested for celiac disease? And I think today still, if you have celiac disease and you’re well controlled on a gluten-free diet, most people would not suggest a priority that you get tested by colonoscopy for Crohn’s disease, although many of your celiac patients and our celiac patients may have already had a colonoscopy as part of their evaluation that led to their celiac diagnosis. Though many may not because they just got an upper endoscopy. So if you have celiac disease but don’t have other symptoms and are well controlled, at this time, most people would not be testing for Crohn’s, although there may be lots of research interest in testing for some of those biomarkers, and there’s certain immune testing that might interesting to do. But really, certainly most people with celiac disease well controlled don’t need to be ruled out for Crohn’s.

Now, on the other side, those who have Crohn’s, is it worth being tested for celiac disease? And that’s an interesting one because actually, there is an increased risk either way. If you have celiac disease, there’s a greater risk than Crohn’s compared to the healthy population. And that’s even greater than the risk if you have Crohn’s, of having celiac disease. But as you know, and your listeners know, to test for celiac disease from a blood test is very easy, and celiac disease is very, very common. Most patients, or I would say many, many, maybe most is a little too strong, many patients that have been diagnosed with Crohn’s probably have been tested for celiac disease already. But it is not unreasonable for testing. It’s not unreasonable. And there’s not real clear guidelines on this, Vanessa at this point. Because celiac is so common, and because there is an increased risk, the cost of that blood test is small compared to actually making a diagnosis of having celiac disease.

Vanessa Weisbrod:

Absolutely. For our patient, Jay, is it possible that he had Crohn’s at the time of his celiac diagnosis and it wasn’t identified, or is it possible the Crohn’s developed later?

Dr. Scott Snapper:

There’s no doubt that both are possible. There’ve been some studies where people who have joined the military have been followed… They’re healthy when they join the military, and they’ve been followed for a decade let’s say, and blood gets tested from those patients over time. And some of those patients end up burning out. They end up having Crohn’s disease or celiac disease. What’s been interesting in the inflammatory bowel disease literature of these studies on the military cohort, it’s clear that even seven years before the diagnosis of Crohn’s, there are already alterations that suggest that an individual will get symptomatic Crohn’s later on. I say this is a long-winded approach to say that actually, it’s usually before somebody becomes symptomatic that Crohn’s has been brewing for a long time. But it is certainly possible that in our patient with celiac disease that there was an additional trigger that occurred after the celiac diagnosis, and I mentioned some of those, and you developed Crohn’s afterwards.

Vanessa Weisbrod:

So does this military data mean that we might have been able to predict these people getting Crohn’s?

Dr. Scott Snapper:

I think that there’s still lots of work being done in that regard. And in the military data, what people have found is that there are certain associations that if you look seven years before the diagnosis, you’re more likely to get Crohn’s if you have those alterations. But not everybody who has those alterations gets Crohn’s. So there’s still lots more studies to come from that.

Vanessa Weisbrod:

So it’s interesting for our patient, Jay, that the physician at the campus health center first thought to investigate if his symptoms were being caused by ongoing gluten exposure. How do you decide if a patient with celiac is inadvertently eating gluten or if something else is causing their symptoms?

Dr. Scott Snapper:

Yeah, I have to say, although I’m a gastroenterologist and an immunologist, my real deep expertise is more on the IBD side than on the celiac side. However, having said that, the first thing in any celiac patient who is having increased symptoms, the first thing one looks for is inadvertent gluten exposure. And that’s just sort of baseline. We do that because it’s really been shown that that is the most likely reason why someone is symptomatic. So that is completely reasonable. And it’s really first principles, in all honesty. And then after really ruling out, to the best that one can, that one is having inadvertent gluten exposure, one then moves on to other testing, stool testing, blood testing, and then eventually colonoscopy or endoscopy.

Vanessa Weisbrod:

So the only current treatment for celiac is a strict lifelong gluten-free diet. Can you tell our listeners about the treatment options for Crohn’s?

Dr. Scott Snapper:

So with Crohn’s, unfortunately there is no cure yet. Similar to celiac disease, there’s no cure, although at least most patients with celiac disease go into sustained remission being on a gluten-free diet. With Crohn’s, there are a number of medications that are now available for children and young adults and adults with Crohn’s disease. There are many. They’re oral medications, as well as injectable medications, some injectable at home, some in IV infusions in the hospital. And there are many, many. And a large number of patients, thankfully, with Crohn’s can go into sustained remission after being on these medicines. Unfortunately, there are a significant number that are not able to, and that’s why it’s so critical. We’re coming up with new medications. And many of us around the world are trying to come up with new medicines and cures for Crohn’s disease.

Vanessa Weisbrod:

Do the treatments options change with the dual diagnosis of celiac disease?

Dr. Scott Snapper:

Not really. Not really. I think that… Let me give one possible example. So what I didn’t touch on is dietary therapy. And so there’s a great interest, and the incidents in Crohn’s has been increasing over a long period of time, a long period meaning in the last 50 to 100 years. And the greatest changes have been in diet. So there’s been this major thought about diet being a trigger in some way for Crohn’s disease. There are certain diets that have been shown to be effective in inducing remission in subsets of patients with Crohn’s disease, even as good as some of our medicines in inducing remission. And so some of those diets have been Mediterranean diets, specific carbohydrate diets, caveman diets, and there are patients who’ve been on gluten-free diets. I think that with someone that actually has Crohn’s and then has a subsequent diagnosis of celiac disease, I would be much more inclined to try a dietary therapy or dietary approach.

And there’s some. Not all of the diets that have been associated with actually some anti-inflammatory effects for Crohn’s avoid gluten, but some do. And if I had the diagnosis of Crohn’s, and then develop celiac, I’d be much more inclined to try a dietary therapy. Now, the other way around is a bit more complicated because you need to be on a dietary therapy for Crohn’s disease. And so obviously, one would need to continue gluten restriction. I’d be less inclined to try a new dietary therapy and would be more inclined to try one of the other medications.

Vanessa Weisbrod:

Right, because you’d be making an already very restrictive diet, perhaps more restrictive.

Dr. Scott Snapper:

Exactly. Exactly.

Vanessa Weisbrod:

So one of the things I found interesting when listening to Jay’s story was that he knew that he needed to see a doctor, but he kept putting it off. When should someone with abdominal pain and diarrhea call their doctor versus just waiting to see if it gets better?

Dr. Scott Snapper:

That’s a great question. And I would say that if someone has recently traveled or is traveling, or has recently had a dietary change, somebody with acute onset of abdominal discomfort and diarrhea, as I said earlier, as long as it’s not too severe, I think watching it for a few days, even for a week or so makes sense. And there are certain triggers that make us concerned. And those triggers are blood in the stool. That triggers wanting to talk with a doctor. And I would say weight loss is also a trigger. And so whenever somebody has weight loss in association with abdominal pain and diarrhea, they should see their primary care doctor, who may or may not then refer them to a gastroenterologist. So it’s really length of time, severity, and even symptoms like nausea and vomiting. Of course, unfortunately, we all know you can get a virus and have nausea and vomiting, but that’s acute self-limited. Within days, goes away. It’s when things continue that really one needs to get evaluated.

Vanessa Weisbrod:

So there is still very little research on the link between celiac and Crohn’s disease. What do you think that we need to learn next to better understand the connection or lack of one?

Dr. Scott Snapper:

Yeah. I think there is, by the way. As the data and the large meta-analysis have suggested, I think there is a connection. I think there’s still a lot of knowledge that is needed to understand how genetics connects to alterations in the environment to lead to dysregulation of the immune system in the intestine. And as we learn more about that, how diet, how environmental exposures alter our immune systems in the gut, we’ll learn more about celiac disease, we’ll learn more about Crohn’s disease. And certainly by learning more about both of those, we’ll learn more about them together. I think the other thing is having prospective, which means going forward studies at looking at people with Crohn’s prospectively, or separately, those with celiac disease, following them prospectively and studying them, looking for those who develop either Crohn’s or develop celiac disease, like that study in the military, which starts with people who have neither. I shouldn’t say that. I don’t know actually if you can be in the military and have celiac disease, I think probably you can. I don’t know the answer to that.

Vanessa Weisbrod:

It’s a challenge. That’s a whole nother podcast episode that requires defining food.

Dr. Scott Snapper:

But really, having those prospective studies looking at either of them and figuring out who develops either Crohn’s or Celiac disease in those separate situations will go a long way for furthering our knowledge.

Vanessa Weisbrod:

Thank you so much, Dr. Snapper, for all of this wonderful information. We’re going to take a quick break. And when we come back, we’ll have Jahna Goldmore, a social worker at Boston Children’s Hospital, here to talk about strategies for managing stress and anxiety around living with Celiac and Crohn’s, as well as a new innovative health and wellness program that is helping these patients at Boston Children’s Hospital.

Speaker 4:

We’re going to take a quick break to hear from our podcast sponsor, the Global Autoimmune Institute.

Speaker 5:

The Global Autoimmune Institute works to empower solutions in the diagnosis and treatment of autoimmune diseases through research, education, and awareness, while supporting multidisciplinary approaches to health, we are thrilled to support the production of this educational podcast.

Vanessa Weisbrod:

Welcome back, and welcome Jahna to the podcast. So when I was interviewing Jay about his story and he described feeling anxious, stressed, and depressed about his situation with the two conditions, I knew we needed your wisdom on how patients can deal with the hardships and emotions of these diseases. So what is your approach with patient families when there are two diseases that they have to deal with?

Jahna Goldmore:

Thanks so much, Vanessa. That’s a really great question. I think that a piece of work with any chronic illness is really… We talk about this idea of adjustment to chronic illness. But I think to me, the first part there is really acknowledgement that this is a huge shift in their life, and really taking time to pause and experience the emotions that go with that. Because I think when I’ve seen patients try to move through without kind of an acknowledgement, that really makes it a really difficult adjustment. We’re trying to acknowledge kind of all the feelings that go with this, not just the ones about moving forward and being strong, but also about frustration, disappointment, sadness that go with that, because I think the expression is the only way forward is through. So to me, that’s kind of the first step. And then I think there’s obviously with any chronic illness, and particularly having a diagnosis of two, it’s the sense of unpredictability.

I was thinking a lot about Celiac and IBD and kind of the differences in unpredictability there. And with Celiac, it’s like you can control things through management of a diet. But in the environment sometimes there’s unpredictability to what might pop up in choices, so that you can do as much as you can, but sometimes you can’t predict the environment. And with IBD, sometimes it’s internally, or what is your response going to be to medication? What symptoms is your body going to have that, even though you do everything that you are planning to do, take medication, follow the right nutrition plan for yourself, that still internally, there’s unpredictability. So I think for both, there’s a little bit of each. But my focus with patients tends to be acknowledging that unpredictability is a huge source of anxiety. And that’s the starting point, but really having the focus beyond what is in their control. And in a healthy and balanced way, what are the pieces they can focus on that they have control over?

And we call that kind of like their self-management. So that would mean nutrition and diet, which we obviously know is huge in celiac, but also in IBD. Stress management and what’s our relationship with the emotions that go along with this, really, that’s a piece of the puzzle. And then also, what are their supports? What are the things they have in place, which I know we’re going to talk about through our conversation. But I think focusing on what are these small pieces that are in their control to help them feel that, even though there’s some unpredictability here, what are the things that they can predict in their own self-management and their own treatment plan that help them feel they have a sense of autonomy? Because otherwise, we can go down a rabbit hole of worry. And I think that’s easy for anyone to do, but particularly with one diagnosis, and then another. So I think just peeling it back to those basics.

Vanessa Weisbrod:

Absolutely. So it’s so hard to be told that despite your constant vigilance with the treatment for one disease, that you now have another. How do you encourage someone to continue sticking to the gluten-free diet when it hasn’t seemed to prevent development of another condition?

Jahna Goldmore:

Yeah, definitely. That’s a great question too. And what I was thinking about too with your first question is I always think about focusing on what has worked in the past. And I think that’s kind of a piece to kind of jump forward into this question. I think that supporting patients to feel invested in their care, even when it feels frustrating at times, and really focusing on long-term goals, so I think working backwards. So sometimes when we meet with patients, it’s trying to think about what are the things they really want to do? What is the kind of quality of life they want to have? And then kind of asking questions and doing… We say motivational interviewing, but basically what are the steps that they need to take to do that? And really connecting the dots on the day-to-day behaviors and sticking to a gluten-free diet and making certain health choices, and kind of how those connect to long-term goals. Because that can be really difficult for any and all of us, but specifically when you have these daily choices that can majorly impact how you feel.

So I think making those connections to long-term goals and short-term behaviors and trying to help people really feel invested. So even for young school-aged kids and teens, having them have a conversation with their providers and really have them have engagement in their treatment plan, not just parents telling them kind of what to do, but really having them have choice, right? Because there are different choices that kids with this diagnosis, celiac or IBD have to make to stay healthy. So really having them within those have control and choice.

Vanessa Weisbrod:

Absolutely. So Jay was in college when he received the dual diagnosis, when there are many emotions flowing. He was living away from home and dealing with multiple medical conditions on his own. Anyone would be stressed in that situation. How do you support patients in college with navigating all that comes with these diseases?

Jahna Goldmore:

Yeah. So I agree with you. I think anyone would be so stressed in this situation. I think it’s kind of an adjustment to college, compounded by an adjustment to a chronic illness, and then on top of that, managing a chronic illness that we know he was managing. So it’s like adjustment times three. I think that really kind of stressing that the foundation here is health and mental health, and that that’s a starting point for everything else. And it’s kind like the expression of putting your oxygen mask on first. But really for kids that especially they’re at college, they’ve worked so hard, they want to achieve and do well, but kind of making the base point their own health and mental health and that things build from there. I think I’ve seen kids jump in the other way, the reverse direction. And it works for the short term, but in the long term, it’s sometimes not sustainable.

So for them, the specifics, I would say really identifying supports that are already existing. We say natural supports, but identifying their community. If it’s friends they’ve already made at school, but also family and friends from home, and really getting these touch points in place, and kind of having open conversations about what’s helpful for them for support, which is so hard. But I think having proactive conversations. Then when you really need it, that support is there. And then I think identifying new supports at college, which can be pretty scary for… It’s a new place you want to do it on your own. But schools really have systems in place, which we’ll talk more about, that are able to support kids, counseling centers. But also just accessibility and disability services are able to really sit down with kids and see what’s a game plan for the semester based on what you have going on medically.

And they want to work for the students as much as students want support, but sometimes it’s hard to have that activation energy to ask for support. So to me, I think it’s really identifying what you have that works, and then in this new environment, what’s going to be helpful.

Vanessa Weisbrod:

So Jay ultimately had to change his major because of his medical needs. This was clearly a very challenging choice for him. How can college students advocate for themselves to get the right support in the college setting?

Jahna Goldmore:

Yeah, like we had mentioned a little bit, but I want to get into this disability and accessibility services. So at any college, they have staff on site that are really designed to support with exactly this. So if you had a 504 plan for medical need in high school or prior, or you didn’t, it doesn’t matter, college could be a new starting point, but this office also helps with 504 and past IEP accommodations. And they will really sit down and through what protections could be available. And I think what I always tell kids, it’s like it’s totally okay to change course making choices that are going to work for you, but certainly the ability to be proactive and kind of have these conversations with the team there. Some of the accommodations we see for celiac or IBD is not calculating a term grade until you have a chance to make up work.

So if you had an exposure or a flare, that you also have time to really do what you need to do to have that reflect your hard work. No medical appointments and everything wouldn’t be counted against you. And then they might have stopped test time for different symptoms and access to what they need in the classroom or in a formal testing setting, so if symptoms come up, that that is supported and they’re not penalized for that. So basically, you’re not penalized for having to manage a medical condition. And I think that there’s staff there that will meet with you to set up a plan and inform professors, not even of the specifics, but more just to let them know so that someone like Jay can have those conversations with teachers as needed. So it’s almost like putting an insurance plan in place. And hopefully you won’t need it, but if you do, which does happen, which in Jay’s case, he did need to have some conversations about this, that he’s able to, and it’s protected, and you have a team that has your back.

You’re not just advocating on your own. You really have that backing of a formal plan with the school. And we think of it, there’s both academic accommodations, and then also housing. So we think a lot about that with kids. If there’s a setup that would help them to feel more comfortable, to get more rest, to be exposed to less… For IBD kids, some of them are on immunosuppressive medication. To be on that medication and try to limit exposure to kind of a bathroom with many, many, many students and share it with less, or if anyone’s having symptoms, to have a bathroom accessible. So thinking about the housing and the academic as parallel, because obviously they feed off each other in terms of how kids are adjusting to college.

Vanessa Weisbrod:

How is the medical team involved in the college advocacy process?

Jahna Goldmore:

Sure. Yeah. So we really provide documentation for students so that they can start this process. So when you call to meet accessibility services, the first thing they’re going to ask you is, “Do you have a letter from your medical team, or do you have a form completed?” So really our role is to give context for the diagnosis and what we think might be helpful, kind any updates on that. And we can also sit down with students, and kind of because we’ve worked with many college students, really help them to understand what their options are. So maybe they go into that conversation with the school knowing what questions to ask. So we’ll have a problem solving and brainstorming conversation beforehand to kind of educate them on what they need to look for and what they should be asking for. So that’s how we’re involved, and then we can get involved along the line if we need to.

Vanessa Weisbrod:

So let’s talk about the social elements. How can college students talk to their friends about their diseases and find support?

Jahna Goldmore:

Yeah. So a lot of kids going into college may have already been diagnosed and may have already had this experience of having to share with friends, teachers, coaches at school. So often for that population, we’re thinking through what worked for you. But then going into this new situation, I think for anyone, whether they’re newly diagnosed or they’ve had the diagnosis, kind of identifying what’s your intention in sharing? So how will you feel after you share? So sometimes I’ll kind of walk kids through what’s the intention? Do you think this will take pressure off you if someone knows, and so you won’t be worried about what if something comes up? So is the intention to decrease your anxiety? Even though it’s a hard first step to take, what will be the long-term outcome of sharing this with someone, whether it’s a roommate or a professor or coach?

So I think having them really think about why they’re sharing and what the purpose is, and then kind of thinking through how can I actually reach that intention and maybe share the amount of information I’m comfortable sharing. And then kind of we think through their circle. It’s like you have an inner circle of close friends and people that you might share more with, and then kind of friends or classmates, and maybe some teachers, professors, and then kind of the outer circle, people you may not have as many interactions with. So I think there’s levels of sharing that kids are comfortable with. So we’ll kind of walk through a script of… With some people I might be sharing, I have an autoimmune disease or I have a medical plan. And with some people, I might really be getting more into, “Here’s what comes up for me, and here’s when I might need support.”

So having them kind of be able to tease out why, and then what they want to share and what they’re comfortable with, and practice it a little bit too. So it’s great to practice with someone you’ve already shared with, or with a counselor or family member to kind of think that through. Yeah, and I think you can always, I think, figure out your own timeline for it. So there’s no right or wrong way to do it, but that’s a lot of what we’ll do to problem solve. And I think it’s a great thing to think through because sometimes it does shift things in terms of comfort level adjusting to school.

Vanessa Weisbrod:

For sure. So what are some strategies for reducing stress for patients who are feeling overwhelmed by their diagnosis?

Jahna Goldmore:

Yeah, that’s a lot of our focus, and probably one of the most common referrals we get in conversations that we have with any high school to college transition. So I think about it twofold. It’s like there’s internal kind of things that we can do that we can do. I can do this by myself to really manage my stress, and then kind of environmental things. I can set this up, or I can connect with someone else. That might be a great way to mitigate stress in the longterm. So I think some of the external things I can start with that we talked about. So especially with adjusting to school, really identifying your supports. And then if creating a health or medical plan with accessibility services takes a little bit of that pressure off, having to do everything at the deadline. Or if something comes up, worrying about, will I finish this on time? Will I be able to have my grade reflect my effort in the class? I think counseling services too, obviously is a great way.

If someone feels like they need that extra support, it’s just helpful to talk things out. And I think also setting up the dorm in a way, that is actually a huge factor for kids. I think I have some kids that are so worried about going to school and having symptoms and having to share a bathroom, that just taking that off the table and having a bathroom shared by less students, or they’re in a suite where it’s only a couple students, that actually changes the game for them, and they feel a relief about going away from home. So those, I think, are the environmental things. But internally, what can we do? Of course, what coping skills have worked? So much benefit in terms of exercise and stress reduction. We’re focusing a lot within our wellness program around yoga, meditation. Even if you’re not going to go meditate for half an hour, being able to do diaphragmatic breathing for one to two minutes can really reset your nervous system and help you kind of get to that rest and digest state.

So I think also creating good routines for college students, especially around sleep, sleep, and then all the kind of daily routines that impact their health, so nutrition, self-care, and obviously exercise and everything. So really thinking about good routines and sleep hygiene, I think, can all impact how you experience stress and emotions during the day and how you handle those. So those are just a couple, but yeah, hopefully that’s kind of helpful.

Vanessa Weisbrod:

So you have been very involved in the IBD summer camps. Can you tell our listeners about these programs and how they help young people with IBD?

Jahna Goldmore:

Yeah, absolutely. So these camps are run by the Crohn’s and Colitis Foundation. They are offered to anywhere from, I think, seven to 18, or going into senior year of high school. They’re kind of offered regionally, so this is an awesome way for kids to meet other kids with a diagnosis of Crohn’s or colitis and basically have a summer camp experience for five or six days at an awesome kind of camp location where they can do swimming and arts and crafts and sports and all the summer camp stuff, ropes course, archery, all of that. But basically the common thread here is that everyone has this diagnosis. So at breakfast, lunch and dinner, people take medications. There’s an opportunity to ask the medical team doctor, nurse, social worker kind of question. So we really help support kids to engage within their care. But I would say that’s an open conversation. But otherwise, it’s a lot of informal connections that kids make through the activities that they do, which for them is a great way to connect.

So it’s not a formal support group, but the kids that are campers end up being counselors, and then the counselors end up mentoring for the campers. And we’re there really to support kind of this experience and support kids as they need it. But it’s really one of my favorite weeks of the year to see kids not just be in the hospital setting, but to see them connect with other kids, and that can be a game changer for them, knowing that there’s someone else that’s going through the same experience that is out there.

Vanessa Weisbrod:

So our program at Boston Children’s Hospital recently launched a patient wellness program that combines yoga, mindfulness, and meditation with cooking classes. Can you tell our listeners about this program and how you’re working to reduce stress in these patient families?

Jahna Goldmore:

Yeah, definitely. So I think part of the initiative of trying to start this program also came from seeing the experience kids were having at camp with really doing activity based things that led to these connections and led to them feeling kind of more empowered around their diagnosis, so connected and feeling like they could talk about it. So they were also doing yoga at camp and had this opportunity to do all these kind of cool things. So we thought this is a great chance to bring that to a setting where it’s not a five day thing, but they’re getting a bit of a taste of that experience. So I think our aim is to really start the conversation early that stress how you deal with emotions, how you take care of yourself as a whole person really can affect your IBD or your chronic illness.

That’s an important conversation to have, whether a kid is five or 15, or heading into college. And I think the experiential part, let’s not just talk about it, let’s really see, okay, how does moving around and doing 30 minutes of yoga and 10 minutes of sitting and doing some breathing for a teen, how does that actually impact your nervous system and how you feel? And having them reflect on that. So they’re getting a bit of a taste of what could be helpful for them as a long-term strategy, and they’re getting to meet other kids with the same diagnosis. So I think introducing these strategies and making it experiential, and then helping families and kids connect. And kind of learn, how do we do this? This is your first question. It’s such a huge shift and change to have a diagnosis, but really trying to engage people in their care in a different way that thinks about the whole person and helps them with all these pieces.

Vanessa Weisbrod:

I love how you’ve done some of these events on a farm that’s just in a beautiful setting outside, doing yoga on the farm with goats right behind all the families. It’s such a beautiful thing. So if families have not checked this out yet, I can’t recommend it enough to come and see all the great work that Jahna is doing in Boston. So Jahna, thank you so much for all of the wisdom that you shared today, and also to Dr. Snapper. But now I want to head to my favorite part so that we can find out where Jay is today.

Speaker 2:

Today, Jay is 38 years old and lives with his husband in Brooklyn, New York. They have a dog named Albert and are in the process of adopting their second child. Jay’s celiac disease and Crohn’s disease are well controlled, though he still has flares from time to time. He says that years of therapy, yoga, and meditation helped him learn to control his emotions surrounding his diseases, and that very supportive friends and family helped him get to the good place he’s in today. After graduating from the Dramatic Writing program at NYU, he and a group of friends started a production company and have now produced several feature films, including two that were shown at the Sundance Film Festival. Jay is a lead writer for all of the films.

In his own words, “Living with Celiac and Crohn’s isn’t easy at all. My college years were supposed to be the best of my life, but they were really hard and stressful for me. But looking back, today, I have to believe that being diagnosed with Celiac and Crohn’s changed the entire course of my life in a way that I’m happy about. It forced me to focus on writing, and today I am still doing what I love. I watch the actors bring my ideas and words to life on stage. I can’t wait to share my love of theater with our children and take them to their first Broadway show.”

Vanessa Weisbrod:

Thanks for listening to this episode of Raising Celiac. A special thanks to the generous contribution from the Global Autoimmune Institute to make this podcast possible. A reminder to all physicians, nurses, social workers, dieticians, and psychologists, to claim your continuing education credits. For listening to today’s episode, please visit dme.childrenshospital.org/raisingceliac and complete the short survey attached to this episode. If you like what you heard, be sure to write a review, like and subscribe wherever you get your podcasts. For more information, check us out on social at @BostonChildrenCeliac, on TikTok, @ChildrensCeliac on Twitter, or @CeliacKidsConnection on Instagram. Have a great month.

Vanessa:

Welcome to Raising Celiac, a podcast dedicated to raising the standard of education, awareness, and research on celiac disease and related autoimmune conditions. I’m Vanessa Weisbrod, the education director of the Celiac program at Boston Children’s Hospital. At each month on the podcast, we will invite leading experts to dive into a condition related to celiac and look at how it impacts a patient family, the latest research, and offer suggestions for health providers to manage these complex cases. Every episode of the Raising Celiac podcast is accredited by the Boston Children’s Hospital Continuing Education Department for 0.5 AMA PRA Category 1 credits for physicians. 0.5 contact hours for nurses, 0.5 CE continuing education credits for social workers, and 0.5 CEUs for registered dieticians. To claim your credits for listening to today’s episode, please visit dme.childrenshospital.org/raisingceliac. Let’s get started with this month’s raising celiac patient story.

Janis:

Amelia was born into a family where celiac disease was a common occurrence. Her mom was diagnosed with celiac disease while in college, and her grandmother was diagnosed in her mid ’40s after a battle with fertility issues. She had four first cousins all diagnosed with celiac after experiencing very different symptoms. One cousin suffered from extreme fatigue, and another had debilitating rheumatoid arthritis. Another cousin had a severe case of alopecia and her little brother had eczema all over his body. Over the course of 12 years, they all got an accurate diagnosis that changed their lives, so it wasn’t much of a surprise when just after her 17th birthday, Amelia started getting stomach aches and diarrhea after almost every meal. She’d noticed the stomach aches for several months. They’d started while she had COVID, but they had gotten progressively worse.

Vanessa:

Celiac disease is an autoimmune disease for which the genetic susceptibility is known, meaning that it is passed through families. Even though it’s passed down from parent to child, the symptoms could be entirely different from individual to individual. One person may experience diarrhea and abdominal pain while another may have skin rashes, headaches, or depression. Some people show signs of celiac disease early in life while others remain symptom free well into adulthood. In certain cases, some people with celiac disease experienced no notable symptoms at all.

Janis:

Amelia’s more severe stomach aches went on for about two weeks before her mom took her to the doctor and asked them to run a celiac blood test. Four days later, they got the positive tissue transglutaminase antibody test and four weeks later they were in to see a gastroenterologist for the small bowel biopsy. Amelia really didn’t want to have the biopsy given her strong family history of celiac disease and positive blood results with such a high likelihood that she had celiac disease. She just wanted to start on a gluten-free diet like so many others in her family.

Amelia’s mom insisted on the biopsy. She wanted confirmation that this was in fact celiac disease and not anything else. When she was diagnosed herself, they had found she also had H. pylori at the time of her biopsy. So, she felt it was important that Amelia verify that celiac was the only thing causing her stomach troubles. In addition to her mom’s persistence that she had the biopsy, Amelia’s gastroenterologist had another reason. He mentioned that many drugs for celiac disease were entering clinical trials and that most trials required confirmation of diagnosis via a small bowel biopsy. A quick and easy procedure today would allow her to be part of research in the future.

Vanessa:

An endoscopy is an outpatient procedure that allows your gastroenterologist to see what is going on inside a patient’s small intestine. A small scope is inserted through the mouth and down the esophagus, stomach, and small intestine, giving the physician a clear view to take samples of the tissue. Samples of the lining of the small intestine are studied under a microscope to look for damage and inflammation caused by celiac disease. It is recommended that at least four to six duodenal samples are taken from the second part of the duodenum and the duodenal bulb in order to obtain an accurate celiac diagnosis.

Janis:

Amelia begrudgingly agreed to the endoscopy procedure not because of her mom’s nagging, but because she was intrigued about being able to participate in research. If a drug was developed for celiac disease, maybe there was hope that one day she could eat some semblance of a normal gluten-containing diet. Three days after the procedure, Amelia had a positive biopsy result and immediately started on a gluten-free diet. About six weeks after starting on a gluten-free diet, Amelia noticed a substantial improvement in how she felt after meals, but it wasn’t perfect. She saw her gastroenterologist for a two-month follow-up visit, and the physician reassured her that healing from celiac disease can take time and not to fret that she wasn’t feeling completely recovered.

Vanessa:

The time to feel better after starting a gluten-free diet varies for each person with celiac, some people feel completely better after a few days on the gluten-free diet, and for others it takes a bit longer. A small number of people with celiac disease don’t see improvement on a gluten-free diet. This could be because they are not adhering to the gluten-free diet. There is another condition that is affecting the intestine, or in extremely rare cases, the disease isn’t responding to diet alone and medications such as steroids or immunosuppressants are needed.

Janis:

Amelia persisted with a strict gluten-free diet, but still one and a half years after her biopsy, she still wasn’t feeling back to her normal self. She was now in college. Sure, she did normal college kid things like go to parties, stay up too late and occasionally drink alcohol, but she never ever ate gluten. During her winter break from school, Amelia returned to her gastroenterologist in hopes of finding a solution to her ongoing bloating, cramping, and loose stools. It wasn’t horrible and she could function in school, but she didn’t like the way she felt and hoped for improvement in her symptoms. Her gastroenterologist recommended meeting with their dietician to take a close look at her diet and see if she may be intolerant to other foods. Amelia met with the dietician and decided to try eliminating lactose from her diet.

Vanessa:

Some patients with celiac disease may have trouble digesting lactose because their small intestine is damaged. However, unlike gluten exposure in people with celiac disease, lactose is not causing damage to the small intestine. Some patients need to avoid lactose altogether while their gut is healing. While others do well on a low lactose diet, it’s important to talk with a doctor and dietician before experimenting with additional food eliminations.

Janis:

Just as she was vigilant about eliminating gluten from her diet, Amelia was strict about not eating dairy. She wanted to feel good. She met with her university food services manager and worked out a system to have gluten and dairy free meals in the dining hall. They weren’t the most exciting meals, but they served the purpose. Three months later, Amelia was feeling better. She was significantly less bloated and often had normal bowel movements. She didn’t feel perfect, but she felt good enough. She met with her gastroenterologist virtually and they agreed that sticking to the gluten and dairy-free diet was the right way to proceed. For now, they would reevaluate. In six months’ time, Amelia hung up from the video visit with her doctor, unsure if she was happy or sad. Inside, she knew she didn’t feel normal yet and longed to feel completely healthy. In the back of her mind, she thought about what her doctor said more than two years ago about drugs and clinical trials. Perhaps one of those drugs would be the answer to her issues.

Vanessa:

There are a number of drugs in clinical trial for celiac disease. Some of them are designed to help patients with ongoing symptoms of celiac disease. Others will protect against small amounts of gluten cross contact. But how far away are these drugs from being approved by the FDA? Will they be available to all patients with celiac disease? Will you need biopsy confirmed celiac to take the drugs? How can patients like Amelia join these clinical trials to help researchers learn about how well their drugs might work? We’ll discuss this and more on today’s episode of Raising Celiac.

Today we talk about drug development for celiac disease with Dr. Jocelyn Silvester from Boston Children’s Hospital. Dr. Silvester completed her PhD in biology at the University of Cambridge, England. Prior to studying medicine at Dalhousie University in Halifax, Nova Scotia. She completed her residency at the University of Manitoba in Winnipeg, Canada and her fellowship in gastroenterology, hepatology, and nutrition at Boston Children’s Hospital. Dr. Silvester is the director, director of research for the Celiac Disease Program at Boston Children’s and truly leading the way to finding a way to treat celiac disease beyond the gluten-free diet. Welcome Dr. Silvester to raising celiac.

Dr. Jocelyn Silvester:

Thank you, Vanessa. It’s great to have the opportunity to join you.

Vanessa:

So, I really don’t want to bury the lead too much. We know that there are drugs in development. How many are there and how soon might they be used in the celiac community?

Dr. Jocelyn Silvester:

That’s a great question and one that comes up a lot. We have about a dozen right now, and that number changes around the edges as new compounds enter the pipeline and compounds exit. And that’s one of the really important things about drug development is that most drugs don’t actually make it through the development process to be something that’s actually available to patients. So, how long it takes? Usually, the drugs have to go through three phases. Phase one is first-in-human to make sure they’re safe. Phase two is to get some idea about how it’s going to work, and then phase three is a larger trial that would be to try and get an indication to get the FDA to approve it. So, this whole process could take five to 10 years or longer. And we do have some drugs that are now in phase two, which is exciting because you have to pass phase one to get to phase two and ultimately through phase two to phase three before you get the drug.

Vanessa:

Can you tell our listeners about some of the drug candidates and how they might work? For example, would they allow you to eat a gluten containing croissant?

Dr. Jocelyn Silvester:

So that’s the hope. I think that a lot of my patients tell me they want to eat a normal diet and that includes gluten. And so, the way the medications are currently being conceptualized, there’s definitely some that are thought of as not a way to mitigate the effects of gluten entirely, but potentially help if there’s cross contact at a restaurant or the small amounts of gluten that we know everybody has in their diet from time to time, but not intentional gluten exposure. And then there’s other medications that actually work more to change how the immune system recognizes to and reacts to gluten. And the hope, which really, we have to do the studies to figure out if this is true or not, is that these would be something that would potentially be an alternative to gluten-free diet.

Vanessa:

Wow. So, there is hope for that gluten containing croissant down the line.

Dr. Jocelyn Silvester:

There is, and then I think there’s also folks who, it’s not really a drug, but there’s active efforts to try and modify wheat so that it has the gluten parts of gluten that make gluten do all the things that make things behave like bread products without having the gluten bits that affect people with celiac disease. And that’s a really interesting thing because that’s a food that’s been modified for medical purpose, but it’s not actually a drug. And so, it’s not really clear how we would get to figuring out if that’s something that is safe for patients.

Vanessa:

So interesting. So, are the drugs that you’re thinking about, would you take these in a pill form or would they be an infusion?

Dr. Jocelyn Silvester:

That’s a good question and I think one of the things that definitely changes as drugs evolve, but currently there’s both infusion-based medications and pill-based medications and there was a subcutaneous injection, the Nexvax2, but that one didn’t pass phase two.

Vanessa:

How often would you need to take these? Is this something you would take every day, like a lactate pill or something that you would get once, and it would work forever?

Dr. Jocelyn Silvester:

I think it really depends on the compound and the purpose. So, some of the medications really are sort of lactate for gluten. So, lactate is an enzyme. Lactate contains the enzyme lactase, which breaks down lactose. And so, people who have lactose intolerance they don’t have lactase themselves in order to break it down. So, by replacing the enzyme, they then can tolerate the lactose again. And so, the idea behind the glutenase enzymes is that if you could break gluten down, then people wouldn’t recognize it because one of the things that’s special about gluten is that it has a lot of prolene in it, and those are something that our enzymes that we have in our digestive tract aren’t very good at breaking down. So, if people eat gluten, that’s why we can find gluten intact in their poop. Whereas most foods that we eat, we’re able to break them down into the amino acids, which are like the building blocks of the protein, and then you don’t find them in the poop.

So, even though it’s not that people with celiac disease have an enzyme deficiency like people with lactase deficiency, if you could give them a glutenase to chop up all the glutens, then potentially that would be helpful. And so, of course, if you’re trying to chop up the gluten, then you would have to have this whenever you eat gluten and this needs to be in the stomach, and so these are things that are pills.

Vanessa:

And how about the infusions? Is it a one in a done or is it repeated over time?

Dr. Jocelyn Silvester:

There’s really not the data to know, and I think that’s one of the questions is what are the long-term effects? What’s really exciting about some of the medications that are being tested is that they’re really a first in class medication. And so, when we think about other autoimmune diseases that we don’t understand as well as celiac disease. Really, we don’t have a target like gluten, and so we’re just trying to suppress the immune system and stop it from being active. Now of course, this has lots of bad side effects because your immune system does lots of really important things like fight infections and watch out for cancer. And so, these drugs that we’re doing for celiac disease are actually exquisitely focused on actually the immune response specifically to gluten. And so, it’s a different way of manipulating the immune system. And celiac disease is really being used as sort of the test case, keeping in mind that this is something that would also be applicable to potentially type I diabetes where we know some of the antigens or multiple sclerosis where we know some of antigens.

So, if we know the protein antigen that’s involved, then we can potentially use these technologies. And celiac disease is the first. So, we don’t know whether infusions need to be ongoing or not. And I suspect in the process of doing this, we’re going to learn a little bit about what celiac disease is and what turns celiac disease on and what turns it off.

Vanessa:

Absolutely. So, you mentioned the Nexvax2 trial, and I know that at the time we were talking about it as a vaccine. Would any of the candidates that are now being looked at prevent development of celiac disease or would you already have to have celiac to take these?

Dr. Jocelyn Silvester:

So that’s a great question and let’s take a step back first and talk about Nexvax2, which was called a vaccine. It was a peptide mixture that was subcutaneously injected. And the idea here was again, if you can manipulate how you present gluten to the immune system, then you can change how the immune system responds to the gluten. And so, although it was called a vaccine, it wasn’t a vaccine in the sense we traditionally think about where you’re thinking about something where you want to activate the immune system towards it. And so, the Nexvax2 was a subcutaneous injection, but it wasn’t like a COVID vaccine or a flu vaccine. The injections that we’re doing now aren’t necessarily considered to be quote vaccines because again, for vaccines you’re trying to generate immune response to what you’re vaccinating against, whereas here we’re trying to reduce the immune response to what we’re doing.

Vanessa:

That’s a really interesting way of thinking about it. So now that you have everyone excited about the different types of drugs that are being tested, let’s dive into what needs to happen for these drugs to actually come to market. How does a drug go from an idea that a scientist has to clinical trial and then eventually to our pharmacy shelves?

Dr. Jocelyn Silvester:

So, I think that’s partly some of the process that we started to talk about a little bit earlier. And one of the things that often gets missed out on this, it’s super important is the so-called preclinical phase. So, there’s a lot of work that happens before somebody could even go to the FDA or Health Canada or the European Medicines Agency and ask for permission to test a drug in humans. And so, this is where the idea happens. And then usually for most diseases we have animal models or tissue culture-based models. Celiac disease is interesting in that we don’t really have as developed animal models as we do perhaps in other diseases. And so, we have celiac diseases interesting in that we don’t have as developed animal models as we do in other diseases, but we’re able to get data with animals to support the idea that it’s worth trying in humans.

And so, then the first process in the United States, it’s similar in other countries, but for this conversation we’ll really focus on the United States because it’s Boston Children’s Hospital, so is to apply for a so-called IND or an Investigational New Drug Application. And this involves taking all of the preclinical data and also outlining a plan of how to show that this drug is safe and effective and what it’s effective for.

And so, the first step is to look at that data and part of the preclinical studies is always toxicity studies in rats and look well below the dose that was toxic in rats and start giving that to humans and see what’s happens to people. This is a so-called phase one or first-in-human phase, and this is usually starting at a very low dose with three or five people and then reviewing the toxicity and if it appears safe, then going up to a next dose and sort of going up to what the target dose range is to see what that relationship between dose and toxicity is. And then that information from the phase one trial is used to inform the dosing for the phase two trial.

And then the phase two trial is more about looking at, all right, what’s this drug actually doing to people? Is it actually affecting the response to gluten? Is it making any difference in their celiac disease? And then the phase three trial is saying, “Okay. We want to use this drug particularly for symptoms and people who are already on a gluten-free diet.” For instance, if it’s a gluten aids, that might be an indication. And then once that is sorted out, then the FDA can review it and approve it and then you have a drug. Now something that’s really interesting is that, as we were saying earlier, a lot of the drugs for celiac disease are really unique because they’re actually affecting the immune system. And while they’re so-called tolerogenic in that we’re trying to make the immune system tolerate gluten as opposed to get activated when it sees gluten, they’re very targeted to celiac disease.

And so, it’s less clear that safety needs to be tested in people who don’t have celiac disease. And so, for some of these medications, the first-in-human, the phase one studies are actually being done in people with celiac disease because they’re more likely to have adverse effects if you’re giving them gluten peptides than people who don’t have celiac disease. So, there’s many ways in which celiac disease is a little bit different and a little bit special. And that’s definitely one of the challenges because celiac disease has a treatment which is a gluten-free diet. And so, how do you manage people if you’re putting a treatment on top of a treatment or you take them off their gluten-free diet or you keep them on a gluten-free diet and then put gluten on top of that, that’s where it starts to get complicated.

Vanessa:

So, okay, in phase one you said this is the early stages where they’re looking at the safety in just a small number of people, right?

Dr. Jocelyn Silvester:

Right.

Vanessa:

In those trials, are people with celiac disease eating gluten or are they looking just at taking that particular drug to see how it works in a person?

Dr. Jocelyn Silvester:

So those are really just looking how it works in a person and they want as healthy as possible. So, they’re looking for healthy treated people with celiac disease if they’re tested in celiac patients.

Vanessa:

And then they don’t actually get into the eating gluten until phase two.

Dr. Jocelyn Silvester:

Correct. And not all trials involve eating gluten.

Vanessa:

Correct. So, we know that patients don’t love the idea of eating gluten for clinical trials. Can you tell our listeners why it’s important for people with celiac to eat gluten for research?

Dr. Jocelyn Silvester:

Yeah. I think this is something that we struggle with as a community because we spent a lot of time telling people, “You have celiac disease, you shouldn’t eat gluten, you shouldn’t touch gluten, you should avoid gluten.” And now we’re saying, “Well, wait a minute, maybe we have a treatment for celiac disease. Can you eat some gluten and see if you can help us figure out if this is going to work or not?” And I think that’s sort of the key thing here is that we’re very selective about who can participate in clinical trials. So, anybody who has an anaphylactic reaction to gluten or wheat is automatically excluded. And anybody who has severe reactions to gluten is excluded from many trials because fortunately one of the things that’s unique about celiac disease is that there’s many people who have no symptoms at all. And we can learn about the immune response even if people aren’t having overt symptoms, which is interesting.

And so, I think the reason we need to have people eat gluten is because the disease happens when people are eating gluten. And so, if we want to treat active disease, we have to study active disease. And the way to activate the disease is to give people gluten.

Vanessa:

If people eat gluten for these clinical trials, are they going to have lifetime damage occur to them? Or are they going to heal and be okay?

Dr. Jocelyn Silvester:

That’s a great question. And based on what we know, this is something that we are going to transiently see damage, but people will get better. We actually did this study here at Boston Children’s Hospital with our colleagues at Mass General where we did a gluten challenge study with adults, and we had two different doses of gluten. And in addition to doing the endoscopies like we do when we diagnose people. We also did video capsule endoscopies, which are when you swallow a pill that has a camera in it. And so, we were able to get a look at the villi that way and we could see that yes, if you give people gluten, their villi don’t look very good afterwards. But if we looked a month after we stopped giving them gluten, their villi for the most part looked much better and like they did at the beginning of the study.

And that’s very reassuring and genuinely corresponds with what we see clinically because we know that most people, although they try really hard to avoid gluten, gluten finds them, and they still look healed if we’re to do an endoscopy because intestine has a tremendous healing capacity. One of the things that we spend a lot of time thinking about in designing trials is, okay, first of all, do we need gluten at all to test the hypothesis we’re testing? Second of all, how much gluten do we actually need? And that’s not just how many times does the person actually eat gluten, but how much gluten do they eat each time? And so, we’re actually currently planning a trial at Children’s to look specifically at looking at the doses of gluten that we’re giving adults to look at immune responses. Can we give children lower doses and still see the responses because we really want to minimize the amount of gluten so that we can get the most available information with the least inconvenience to the participants.

Vanessa:

So, you know how much I love to bring social media dilemmas to you and help find the right answer. So, I’m hoping you can give some words of wisdom to other clinicians listening to this interview. So, there’s a recent debate on Facebook about is it really a terrible thing if I eat gluten once a month? Or if my friends are all out and I just don’t feel like being different. If they say it’s okay to eat gluten for science, is it okay if I do it once a month? How do you help people through that discussion and advising patients on what the best way is to proceed forward?

Dr. Jocelyn Silvester:

I think this is where it becomes difficult because as human beings, we really like black and white, which is why the idea that I have celiac disease, I can never touch gluten and I’m never having gluten is very appealing because the idea that actually I have celiac disease and I’m living in a world where I’m surrounded by gluten and I’m going to try my hardest to avoid gluten, but there’s going to be times when gluten is going to find me, particularly because eating really relies on a whole lot of other people and a lot other systems that are outside of your control. And so, I think how I conceptualize it with my patients is we want you to have the healthiest villi possible. And we know that giving you gluten is not good for your villi. So, any intentional gluten exposure that’s on purpose is something that we want to avoid.

Now, is there some threshold that’s safe for exposure? That study’s never really been done either in terms of is there a minute amount that people could eat every day or how long does it take the villi to recover and is once a month too much is once every six months too much? We don’t really know, but we do know that a lot of people are getting ongoing gluten exposure in amounts that are measurable, but that won’t necessarily cause symptoms. And so, symptoms aren’t a great guide to exposure, which is why it’s best to avoid exposure wherever possible.

And part of the reason why, if we’re doing a study and we’re asking people to eat gluten for the study, a big part of being able to do this study is there’s an ethical review for the study. And one of the questions in any ethical review is, does the risk to the participant outweigh the scientific benefit? Because if you’re giving lots of people large doses of gluten to show that gluten causes villous atrophy, well we already know that, and so we’re not actually getting useful information. If we’re giving people large doses of gluten to see if this drug prevents villous atrophy, that’s actually moving the field forward. And so, in order to get approved for a study, we have to demonstrate that actually by doing it, we’re going to add something to what we already know.

Vanessa:

So, let’s talk about placebos. Why are there placebos in drug trials and why can’t everyone get the active drug?

Dr. Jocelyn Silvester:

That’s a great question. And the reason we have placebo is because we know that symptoms fluctuate, conditions fluctuate. And especially when we’re looking at something like symptoms, which for the most part are somewhat subjective, we know that there’s a propensity for us to our mind can control our body and if we believe something is going to help, then that can potentially help even if it’s placebo. And we don’t really understand that process very well, but we know that it’s a thing. And so, particularly for conditions which are not infectious because the placebo response to infection is very low, because if you have the bacterial infection, the bacteria is there whether you think it’s there or not. But for things where you’re looking at things like nausea or vomiting or diarrhea, which are a little bit more subjective, we know that there’s a placebo response. And we also know that there’s a nocebo response, which is really interesting.

Actually. There was an interesting study recently where they took patients with non-celiac gluten sensitivity, and they gave them either gluten or placebo.

And half of the people who got gluten, they told them they got gluten. And half of the people who got gluten, they told them they got placebo. And half of the people who got placebo, they told them they got gluten. And half of the people who got placebo, they told them they got placebo. So, in each group you had people who were told that they got what they got and people who were told that they got something different than what they actually got. And yes, there was a very stringent ethical review for this because we’re very careful in conducting research studies to be honest with participants. And so, it was actually subsequently disclosed to the participants after the data had been collected that this was what they were actually trying to test. But they couldn’t tell people that in advance otherwise they couldn’t do the study.

And so, what we found was that the people who had the most symptoms were the people who got gluten who were told they got gluten. And the people who got gluten who were told they got placebo had less symptoms than the people who got placebo who were told they got gluten. And so, thinking that they got gluten, the so-called nocebo effect was very powerful. And that’s super important for clinical trials because the FDA wants us to use clinical endpoints and symptoms. And so, if whether or not people know they’re getting gluten effects, they’re reporting that’s super important. And so, the reason to use placebo is both to use placebo gluten and to use placebo medication. And so, just as you can have expectations, what will happen to you if you have gluten, you can have expectations what will happen to you if you have the drug.

And some people their symptoms may just get better for some reason independent of being in the trial. And so, it’s important to have that comparison so that if everybody gets better you know that it wasn’t actually the drug. And this is super important in celiac disease and what we learned from some of the early trials, because when they looked at the people who got the drug, their villi got taller, but when they looked at the people who got placebo, their villi got taller too. And what that tells us is that everybody tries really hard to follow a gluten-free diet. And when they go into a trial, they try really hard to follow a gluten-free diet and they probably do a little bit better, which means that their villi grow better, which is part of the reason why it’s so important to incorporate gluten into study designs because then we have some idea of how much gluten people are actually getting.

Vanessa:

So, can someone choose if they get the placebo or the drug?

Dr. Jocelyn Silvester:

So that’s a great question. And generally, no. And so, part of the principles of clinical trials is you have screening criteria because you want to get people who are similar and that they all have celiac disease, either they’re all healed or they’re all not healed. And so, that you are starting with people who are similar, but there’s still going to be some differences. And so, the people who choose to have placebo, there might be something that’s systematically different from them than the people who choose to have drug. And so, when you hear about clinical trials, they often talk about randomized double-blind placebo-controlled trials. And what randomization is that when it gets time to treat a patient and assign them to the treatment, you essentially slip a coin to decide if they get placebo or the drug. And the reason for this is that if you do it randomly, then all of the random things that are different should be equal between the two groups. And so, if you see a difference between the two groups, it’s more likely to be related to the intervention.

Now, exceptions to that are that there’s some trials where they’re designing that after a certain point, if it looks like the intervention is promising, then they will allow adolescents into the trial and those trials are not giving adolescents placebo.

Vanessa:

Got it. So, as you heard, our patient Amelia wasn’t thrilled with the idea of a biopsy. Why are biopsies for clinical trials important?

Dr. Jocelyn Silvester:

So, I think clinical trials for the most part want people to have a biopsy confirmed diagnosis of celiac disease just because that’s how we define the disease. And often part of the sort of screening process to enter a trial is to do a repeat biopsy because it’s important to know are the people who are starting the trial healed or not healed? Because not everybody who’s on a gluten-free diet is healed. And so, having had initially when one’s diagnosed a biopsy means we have something that we can go back to that we can reference and confirm, “Yes. This person actually did have celiac disease.’ And it’s actually interesting how often when you go back and look, you see that people may not have quite met criteria for celiac disease but have been treated and told they have celiac.

Vanessa:

What do you do with them then?

Dr. Jocelyn Silvester:

So those people usually are ineligible for the trial. And I think this is one of the things that is worthy of another discussion is this whole idea of how do we know what celiac disease is and how do we define celiac disease and what you do when not all the signs point the same way. So, if you have a biopsy that looks like you have celiac disease, you have symptoms of celiac disease and your serology looks like you have celiac disease, that’s really easy. But what if you only have two out of the three? That’s where it gets more complicated. And this is part of the reason why people may have had serologies and symptoms, but the biopsy may not quite have been severe enough, or potentially the reason the biopsy wasn’t severe enough is because they had decreased gluten already while they were waiting for their biopsy.

So there’s lots of different things that can happen, but generally if you can document that somebody had a biopsy consistent with celiac disease at the time of diagnosis, this is a way of confirming that the people in your trial are actually people who have celiac disease because we don’t really know the mechanism of non-celiac gluten sensitivity, but the immune-based drugs for celiac disease probably wouldn’t work for somebody with non-celiac gluten sensitivity. So, we need to make sure that the people in the trial are people we want in the trial.

Vanessa:

So, for people who were diagnosed with celiac disease during COVID, or for kids who were diagnosed using the ESPGHAN criteria. They’re obviously going to get older and be adults or eligible to participate in trials. What do you do if they just never had a biopsy as part of their diagnosis?

Dr. Jocelyn Silvester:

And that depends on the trial, and it depends on the design of the trial. And so, some trials, if you have a biopsy when you enter the trial that shows you have celiac disease, then that can be taken as a diagnostic biopsy. Some will look at serology only diagnoses, but for the most part, people who are investing the money to test their drug want that additional confirmation of a biopsy to be sure they’re testing the drug in the right people.

Vanessa:

Makes sense. So, what do you think are the biggest barriers researchers are facing today with drug development?

Dr. Jocelyn Silvester:

I think the main barriers that we always face are money and time. And also, I think this isn’t really about researchers. This is about patients with celiac disease and it’s a partnership. And so, we can’t develop drugs in a laboratory because we’re not developing drugs for rats or any other animal. We’re developing drugs for humans, which means we need to do clinical trials, which means we need volunteers for clinical trials. And so, I think we really need to remember as a celiac disease community that it’s our collective responsibility if we want a treatment other than a gluten-free diet to help work toward having a treatment other than a gluten-free diet. And there’s lots of ways to do this that may not necessarily involve being in a clinical trial where you consume gluten because there’s a lot we don’t know about celiac disease and some gaps we need to fill in order to be able to test the drugs.

For instance, things like how many symptoms does somebody with celiac disease actually have? And what is more symptomatic or less symptomatic? It’s really interesting in celiac disease you sort of have celiac disease or you don’t. And most conditions where there’s drugs, the drug is for mild to moderate Crohn’s disease or severe Crohn’s disease. Well, nobody really talks about severe celiac disease or mild celiac disease. And so, there’s certain things that we need to do and figure out that are totally independent of actually testing the medications.

Vanessa:

For sure. So, are the current clinical trials just for adults or are there ones that kids or teenagers can participate in?

Dr. Jocelyn Silvester:

So, right now, the trials that are enrolling are predominantly for adults. And there may be some looking at non-drug, so a drug is a compound, it’s not a organism. So probiotic trials, I know there have been some done in children, I’m not sure if any are actively recruiting right now, but those aren’t considered drugs. So, it may be that those are open, but for the most part, the idea has been to start with adults and then work towards children. But I think that’s a really important question because arguably children have the most to gain from a drug for celiac disease because children are still growing, and time is important, and nutrition is important to growing. And so, if we could accelerate recovery from celiac disease and treatment of celiac disease, and if we could change the burden of gluten-free diet, I think children have a tremendous amount of benefit.

Vanessa:

For sure. So, do most drugs make it to market or do they fail along the way?

Dr. Jocelyn Silvester:

Most drugs fail, fail to come to market. And I think this is one of the things that is really interesting that I didn’t really appreciate until I became more involved in drug development that a good clinical trial is actually about a lot more than whether the drug works or not. And this is part of the reason why if you participate in a clinical trial, there’s lots of questionnaires, there’s blood draws, you may be having capsule endoscopies with the camera plus actual endoscopies. And part of the reason for this is that we can learn more about the disease and markers of the disease even if the drug doesn’t work.

And so, a great example of this is we mentioned the Nexvax2 earlier, and this was a subcutaneous injection of peptides that people with celiac disease recognized from gluten. And one of the early findings was if somebody vomited when they ate gluten, you could inject the peptide under their skin. And that made them vomit too, which was something that was unexpected and really made us sort of reconsider how we were thinking about celiac disease. They also were looking for markers, and so they found that when somebody has celiac disease, there’s certain chemical mediators and cytokines that are released and you can measure these. And so that has also been something that’s changed how we think about celiac disease.

So, Nexvax2 isn’t going to be a drug that’s going to be available for people with celiac disease, but did the people who participated in those trials contribute something really useful to understanding celiac disease and have those trials really being foundational to future trials for celiac disease? Absolutely. And so, I think when we think about failure here, we need to really think about the context because a successful trial will have enough so-called ancillary studies that will help move the field along even if the drug “fails”.

Vanessa:

This is so fascinating. What about all of that other data that’s collected in these failed trials? What happens to it?

Dr. Jocelyn Silvester:

That’s a great question, and it depends a little bit on who’s running the trial. So, in general, there’s two types of trials. There are those that are sponsored by industry where there’s a company that owns a license or owns a compound and they want to test the compound. And so, they may approach somebody like myself and say, “We’re interested in running this trial, would you like to be a site principal investigator and help us recruit participants to this trial?” And then we would have a negotiation process, a contract process, and ethics review process. And then in running the trial, we would be helping with recruiting patients, enrolling them, conducting the trial. But all of these samples go back to the company, and then it’s the company that owns the samples and the company that has access to the data. The other type of trials are investigator initiated trials. Sometimes these are funded by companies, but more often they’re funded by foundations or by the National Institutes of Health or governments.

And so, in this case, it’s the investigators that own the data or the institutions that have the grants that own the data. And so, there’s potentially more opportunities to publish. However, I think it’s important that even if the data doesn’t get published immediately, it’s still there and it can still influence what happens later on.

Vanessa:

For sure. So, how are you feeling about the future of drugs for celiac? Are you optimistic that there will be a treatment for patients like Amelia?

Dr. Jocelyn Silvester:

I’d say I’m cautiously optimistic, and the reason for my optimism is as you’ve alluded to many times, most drugs that we trust in people never become drugs that we can prescribe to people. And so, what you need in order to have a drug is lots of shots on target. And right now, there’s not only lots of shots on target, but there are different mechanisms to get to the target. And that’s really what we need because it means if for instance, you do subcutaneous peptides didn’t work, but that doesn’t have any impact on whether a gluten is would work.

And so, the fact that we have multiple products that have different mechanisms and also that the companies that are starting to get involved in this field are mainstream pharmaceutical companies, and there’s an interest on a large scale, and it’s not small startup companies that are necessarily pushing this work in the most responsible for the work also makes me feel more optimistic because as we mentioned earlier, the limitations are money and time. And often the folks who already have some drugs that they’re selling have deeper pockets than those who are just trying their first celiac drug for the first time.

Vanessa:

So, in comparing this to something that’s really common, like migraine and headaches and there’s dozens of different drugs and different classes of medicine that you can take for them, could it be hopeful that someday there would be different drugs for different people with celiac disease?

Dr. Jocelyn Silvester:

Definitely, right now there’s different drugs with different mechanisms that are being tested, and it’s possible that multiple of those will be successful.

Vanessa:

Fingers crossed. So, before I let you go, can you tell our listeners how they can find out more about participating in clinical trials both for physicians who may be interested in becoming a trial site and for patients wanting to enroll?

Dr. Jocelyn Silvester:

Absolutely, and I think that’s a really great question because one of the hardest things is to connect the volunteers with the people who are conducting the research. And so, the best thing to do is, number one, ask your doctor if they’re involved in anything. Number two, you can look at clinicaltrials.gov, which is a registry of clinical trials. There’s analogous registries in Europe and in Australia and other parts of the world. You also can join a research registry. So, here at Boston Children’s Hospital, we have a research registry, and that’s the first place we go to recruit people when we’re doing a study. And you don’t have to be a child to register, and you don’t have to be a patient at Children’s Hospital to register. So, if you’re interested, you can look in the show notes and we’ll have a link.

As for investigators, I think that’s a little bit more complicated, but the important thing to do is get involved, get engaged, attend meetings. Most of the celiac meetings and the large GI meetings, there is a presence from the folks who are developing drugs for celiac disease, and they are interested in developing investigators because it’s very unique to be trying to do clinical trials in a field where you don’t have medications and people haven’t been doing clinical trials before. And so, I think if you’re interested in getting into clinical trials, it’s a great opportunity, and I think it’s worth volunteering and finding out.

Vanessa:

So, if a patient wants to go to clinicaltrials.gov and they find a trial that’s interesting to them, but their doctor isn’t listed as a site, can they reach out to other sites on their own? Or do they have to have an affiliation with that medical center?

Dr. Jocelyn Silvester:

Oh, good question. Absolutely. So, on clinicaltrials.gov, it will list information about the trial and then it will list participating sites. And so, you’ll have contact information for those sites, and you can reach out to them. The other way to find out about trials is a lot of the companies are partnering with patient organizations to help with recruiting. So, often patient organizations will know about what trials are happening, so their websites are also another place to get some information. But certainly, I think if you’re interested, the first thing to do is to reach out and we certainly do get inquiries from clinicaltrials.gov and we do respond to them. So, definitely if you’re interested and you see something that’s interesting, don’t be afraid to click the button to find out more.

Vanessa:

Great advice. So, thank you so much Dr. Silvester, for all of this wonderful information. We’re going to take a quick break and when we come back, we’ll have a patient here to tell us about their experience participating in a clinical trial for celiac disease.

We’re going to take a quick break to hear from our podcast sponsor, the Global Autoimmune Institute.

Speaker 5: The Global Autoimmune Institute:

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Vanessa:

Welcome back and welcome Prachi to the podcast. First of all, thank you so much for participating in research. As you heard from Dr. Silvester, the only way to advance the celiac world is for people to participate in trials. So, truly thank you for joining one and contributing to the future of our celiac community. So, can you tell our listeners which trial you participated in and how you learned about it?

Prachi:

Yeah. So, I’m actually one of the editors on the Celiac Kids Connection Newsletter. So, as I was editing one of the additions, I just saw this ad for a trial, and it was looking for people who have celiac but don’t have a very strong reaction when they consume gluten. And I thought that was perfect for me because that’s exactly what happened to me. So, we just contacted the people who run the trial and I got in and basically, they were just looking for what the immediate changes in blood are after consuming gluten. So, it was very interesting.

Vanessa:

Can you tell our listeners how old are you?

Prachi:

I’m 15.

Vanessa:

Awesome. And how did your parents feel about you participating in the trial?

Prachi:

They were all for it. They were as excited as me, I think ’cause none of us have ever participated in a hospital trial like that. So, we were all really interested to see what it entailed and how it would go.

Vanessa:

Were you nervous to participate?

Prachi:

Not really. I was actually very excited ’cause I’m interested in science and about how the body works, so it was very interesting for me to learn about how my blood and my contribution to the trial would help in manufacturing a potential drug in the future.

Vanessa:

So, what was it like being in the trial? Can you tell us about the experience?

Prachi:

Yeah. So, when we got there, the researchers were actually super nice. They really put me at ease. They almost made it seem like a fun experience going. So, they just had us fill out some forms and it was really fun, and my mom and I went, we actually kind of made a day out of it. We went to Boston, went to a Museum of Fine Arts in our free time between the trials. So, it was really fun participating in the trial, and I think I would definitely do it again.

Vanessa:

So, did you eat gluten for science?

Prachi:

I did. I went in thinking I would get a cookie. Unfortunately, that did not happen. But yeah, I did eat a gluten powder mixed since just an apple juice.

Vanessa:

How did it taste?

Prachi:

I think the powder itself was pretty bland, but so basically just apple juice.

Vanessa:

So, there were no croissants or cookies involved in this situation?

Prachi:

No. Unfortunately.

Vanessa:

How did you feel about having to eat gluten?

Prachi:

I was excited because I thought I would get some cake, but yeah.

Vanessa:

So, going forward, you obviously ate gluten for science once. Do you worry that eating gluten for science once you’ll ever want to eat gluten again, not for science?

Prachi:

Yeah. Probably. But just got to keep the diet.

Vanessa:

Absolutely. It’s so important to remember that we have to stick to that gluten-free diet outside of these limited times we’re participating in research. So, do you have any other words of wisdom that you might want to share with our listeners about participating in future trials?

Prachi:

Yeah. Just go in excited and interested and know that you’re contributing to science and really plan to make the day more fun than just sitting in a hospital because you will have time in between the blood draws and the tests and things. So, just kind of maybe go out into the city, make a day out of it, and just make it a fun experience for yourself.

Vanessa:

That sounds like a really, really good plan. So, thank you so much Prachi and to Dr. Silvester for all of the wisdom that you shared today. Now, let’s find out where our patient Amelia is today.

Janis:

Things haven’t changed much for Amelia in the past year. She’s still gluten and lactose free and still wishes she felt like her old normal self. She has thought about clinical trials for celiac disease but hasn’t committed to joining one because of the requirements to eat gluten. In her own words, ‘I do want to join a clinical trial, and hopefully I will find the right time between constantly thinking about what I eat to feel good attending classes and trying to have as normal a college experience as I can. I haven’t found the time to potentially be sick for meeting gluten, but I’m very thankful for everyone who has found the time and are working to make life better for everyone with celiac disease.”

Vanessa:

Thanks for listening to this episode of Raising Celiac. A special thanks to the generous contribution from the Global Autoimmune Institute to make this podcast possible. A reminder to all physicians, nurses, social workers, dieticians, and psychologists to claim your continuing education credits. For listening to today’s episode, please visit dme.childrenshospital.org/raisingceliac and complete the short survey attached to this episode. If you like what you heard, be sure to write a review, like, and subscribe wherever you get your podcasts. For more information, check us out on social at @bostonchildrensceliac on TikTok, @childrensceliac on Twitter, or @celiackidsconnection on Instagram. Have a great month.

Vanessa Weisbrod:

Welcome to Raising Celiac, a podcast dedicated to raising the standard of education, awareness, and research on celiac disease and related autoimmune conditions. I’m Vanessa Weisbrod, the education director of the Celiac Program at Boston Children’s Hospital. At each month on the podcast, we will invite leading experts to dive into a condition related to celiac and look at how it impacts a patient family, the latest research and offer suggestions for health providers to manage these complex cases. Every episode of the Raising Celiac podcast is accredited by the Boston Children’s Hospital Continuing Education Department. For 0.5 AMA PRA Category 1 Credits for physicians, 0.5 contact hours for nurses, 0.5, ACE CE, continuing education credits for social workers, and 0.5 CEUs for registered dieticians.

To claim your credits for listening to today’s episode, please visit dme.childrenshospital.org/raisingceliac. Let’s get started with this month’s Raising Celiac patient story.

Janis:

Javier and his parents were sitting in their pediatrician’s office when they first heard the words celiac disease. The family’s first language was Spanish. Mom and dad only spoke Spanish to Javier at home, but his preschool teachers only spoke in English. So at a very young age, Javier was already bilingual. When the pediatrician said that four-year-old Javier had a positive blood test for celiac disease, his parents stared back at the doctor with blank faces. They had agreed to blood tests and stool tests because for the past four years, Javier always had diarrhea. They couldn’t remember a time when he had ever passed a normal looking stool. They were always runny and potty training had proved almost impossible. But when the doctor said celiac disease, they had no idea what she was talking about, but Javier did.

His friend at school, Ava, had celiac disease and she got to eat special gluten-free cookies during treat time, he was kind of excited. The pediatrician brought in a Spanish interpreter to make sure that mom and dad fully understood what needed to happen next. She explained that Javier would be referred to a pediatric gastroenterologist for an assessment and a small intestine biopsy, and that he might need to start on a gluten-free diet, but that he should keep eating normal food until after the endoscopy procedure. Javier’s parents left the pediatrician’s office feeling overwhelmed, but proceeded as instructed. Within three weeks, Javier had a biopsy that was positive, confirming celiac disease and instructions to start on a gluten-free diet.

Javier’s gastroenterologist office did a fantastic job providing education about how to manage a gluten-free diet and even offered resources in Spanish. Mom and dad felt empowered that they could do this well until they went grocery shopping for the first time and realized that a loaf of gluten-free white bread was $9.99 at their grocery store. A small box of gluten-free cereal was $6 and gluten-free mac and cheese was $5.99 compared to 87 cents for the normal box they were used to buying. Gluten-free pretzels were $7 for a bag that was smaller than the usual bag that cost a $1.79. The cookies Javier had seen at school were $9 for five small cookies. Mom spent 10 times more on that first grocery trip than any previous food shopping outing ever, and she had no idea how they would sustain these expenses long-term. She had no idea how she was going to feed Javier.

Vanessa Weisbrod:

The US Department of Agriculture defines food insecurity as a lack of consistent access to enough food for an active and healthy life. Feeding America projects that 42 million people, including 13 million children, experienced food insecurity in 2021. Black and Latinx households were disproportionately impacted by food insecurity with rates in 2021 triple and double the rate of white households respectively. It’s well established that processed gluten-free foods are consistently more expensive than their gluten containing counterparts, ranging from four to over 800% more expensive. In addition to costing more, the nutritional content of gluten-free food items is often poorer than conventional food items.

A recent study from Boston Children’s Hospital found that 24% of pediatric celiac patients experienced general food insecurity during the COVID-19 pandemic. And then when asked specifically about gluten-free food, 27% of the patients screened positive for food insecurity. Another study found that one in six patients with celiac disease are food insecure.

Janis:

The cost of gluten-free food became a major challenge from the first grocery trip after the diagnosis. Javier’s mom started cutting back on the quantities of food she would prepare for him, like using just one slice of bread to make a half sandwich instead of two, and only giving him six pretzels at a time instead of a whole handful. This seemed to work okay for a few months, but pretty quickly Javier started growing and in turn seemed to be hungry all the time. Mom had taken gluten-free snacks to Javier’s preschool, but he was eating them so quickly that they would run out after just a few days. Some days she wondered how bad it would be if he just ate the regular food that the preschool provided. Would it really hurt him to eat gluten just once a day? Cutting out providing snacks would save the family about $40 a week.

Vanessa Weisbrod:

The most staggering finding from the Boston Children’s Hospital study was that one in 10 households with a child on a gluten-free diet that was food insecure, reported eating gluten due to limitations on accessing gluten-free foods. Another study from the University of Calgary found that less than one quarter of food insecure celiac patients adhere to a gluten-free diet. This means that patients with celiac disease are not able to treat their disease because they can’t access gluten-free food.

Janis:

Javier’s mom felt like her world was sinking around her. She reached out to the dietician at the gastroenterologist office to ask for help finding cheaper gluten-free foods. The dietician talked to her about naturally gluten-free foods that were lower in cost like rice, potatoes, and corn. She also spoke to them about enrolling in programs like SNAP and WIC to help offset some of the food costs. Javier’s mom immediately looked into these programs and was able to start getting WIC benefits. She was overjoyed, but the joy quickly turned to frustration when she went to check her cart at the local grocery store and every single gluten-free item she selected was rejected from the WIC benefit. How could this be?

Vanessa Weisbrod:

State and federal aid programs are designed to help families facing food insecurity by providing a monthly stipend for purchasing foods. The special supplemental nutrition program for Women, Infants, and Children, or more commonly known as WIC, provides federal grants to states for supplemental foods, healthcare referrals and nutrition education for low income pregnant, breastfeeding and non breastfeeding postpartum women, and to infants and children up to age five who are found to be at nutritional risk. A family with a young child with celiac would qualify for WIC if they met specific requirements. However, there are strict nutritional requirements and package size restrictions on the products that can be purchased through the program.

For example, some products must be 16 ounces in weight and other products must contain whole wheat or meet certain whole grain requirements. Today there is no gluten-free bread that qualifies under the WIC program.

Janis:

Javier’s mom returned home from the grocery store feeling defeated. Her first call was to the wonderful dietician they had met with who suggested the WIC program. She asked her lots of questions about why certain products were allowed and others weren’t. The dietician was shocked. How could a program designed to help families with a child with specific food issues not allow gluten-free food products? She vowed to help Javier’s family utilize their benefits. So she pulled up their state-specific guide to the WIC program and started highlighting all of the naturally gluten-free product options like fresh, frozen and canned fruits and vegetables, corn tortillas, rice, cheese, yogurt, eggs, peanut butter, beans, and a few choices of rice-based cereals.

Vanessa Weisbrod:

School-based food programs are another source of food for low-income families facing food insecurity. The National School Lunch Program provides qualified students with access to free meals at school. And today eight states offer universal school meals, so every child in the state eats free breakfast and lunch. A gluten-free meal option is required under all of these funding provisions. For families facing food insecurity, having two free meals a day for their children can be a huge financial relief.

Janis:

Unfortunately Javier’s Preschool did not participate in the National School Lunch program, so regular food support at school would have to wait until he started kindergarten. However, with the help of some advocacy from their dietician, they were able to convince the preschool to start offering naturally gluten-free snacks for all the children. So Javier and his celiac classmate could partake without their parents needing to send an additional food from home. They started serving cheese sticks, popcorn, vegetable sticks, and potato chips. This definitely helped a little.

Vanessa Weisbrod:

Food insecurity is a massive problem in the celiac disease community. Currently there is no treatment for celiac disease except for the gluten-free diet. Without access to gluten-free food, there is no treating this autoimmune disease. So how can medical providers support patients with celiac disease who can’t afford gluten-free food? What are the best practice for clinic-based screening? What resources are available to actually help patients if they screen positive for food insecurity? We’ll discuss this and more on today’s episode of Raising Celiac.

Today we talk about food insecurity in celiac disease with Dr. Nan Du from Boston Children’s Hospital. Dr. Du is an attending in Boston Children’s Hospital division of gastroenterology, hepatology and Nutrition, and an instructor at Harvard Medical School. Dr. Du received her medical degree from the Warren Alpert Medical School at Brown University, and completed her residency at Yale New Haven Hospital in Connecticut. She completed her fellowship in gastroenterology at Boston Children’s Hospital. Dr. Du’s research interests include the diagnosis and management of celiac disease, early infant nutrition and environmental exposures.

She’s particularly interested in the nutritional adequacy and safety of the gluten-free diet, as well as better understanding how to support families with celiac disease experiencing food insecurity. Welcome Dr. Du to Raising Celiac.

Dr. Nan Du:

Thank you for having me.

Vanessa Weisbrod:

So let’s start at the beginning. Can you tell our listeners what it means for someone to experience food insecurity?

Dr. Nan Du:

Sure. Yeah. So food insecurity as defined by the USDA is defined as the lack of consistent access to enough nutritionally adequate, safe, and acceptable food for an active and healthy lifestyle. In 2022, one in six children in the United States live in a food insecure household. And I always like to stress that food insecurity does not mean that you don’t have access due to financial issues, but it also can mean just lack of access to certain types of food, which I’m sure we’ll dive in a little bit more, but that’s especially important for our celiac patients.

Vanessa Weisbrod:

So while we’re here, can you talk about other social determinants of health and how these screenings have become important in healthcare?

Dr. Nan Du:

Yeah, this is a huge topic, so I don’t know if I can totally do its service in the brief amount of time that we have, but we know that childhood food insecurity has been associated with poor health outcomes, developmental risk, mental health problems, and poor educational outcomes. To broaden that, social determinants of health are non-biological factors that directly impact health and wellbeing. For children, this basically means factors such as the safety and stability of a child’s home and their neighborhood and their community, their access to healthy foods like we talk about with food insecurity, convenient transportation, health service access, like is there a hospital or clinic nearby? And also just good school systems. And basically the big question is what is available in community and what is the social context?

This also includes exposures to environmental toxins, violence and family stress that can be harmful to health. And this is an issue that’s being looked at worldwide and researchers from the WHO have actually demonstrated the importance of social determinants, noting that social position is very closely tied to health outcomes. And in the US this unequal access to resources really promotes health inequity. And a lot of these are based on socially constructed characteristics. And so what we’re finding is that some of these actually have a bigger influence than even genetic factors. And so by screening and at least trying to ask questions about this, we can at least attempt to try and address some of these inequities.

Vanessa Weisbrod:

That’s so wonderful. I’m so happy to hear that clinicians are getting involved in this. Let’s talk about why is it important for clinicians to be involved in discussing food insecurity specifically with celiac patients?

Dr. Nan Du:

I think this really simplifies down to one statement, food as medicine. Access to nutritious food is really critical to the health and the resilience of our families. And this is incredibly important for our celiac patients, and I feel like many of them will feel like I’m saying the same thing that they already know, but our only current treatment for celiac disease is a gluten-free diet. There’s many drugs coming down the pike, but right now that’s not currently available. And so in the situation is as, we wouldn’t want our families to miss doses of medication due to insurance or transport issues. It’s the same thing from a celiac perspective and for our patients, in that our role is advocating for access to safe and gluten-free food is just as important as when we try and advocate for families who need medications.

We also know that a gluten-free diet is substantially more expensive than gluten containing counterparts. So we know our patients are more at risk. So I think it’s important for clinicians to be involved to add that additional perspective and also so patients know that this is something we’re aware and we want to be involved to help them out with.

Vanessa Weisbrod:

Absolutely. Can you talk about what tools are available for clinicians to screen patients for food insecurity?

Dr. Nan Du:

There’s a few screeners available. Perhaps the most efficient and the one that’s been most supported thus far in literature, is this two questionnaire, Hunger Vital Sign is what it’s called. And I’m just going to give you the two questions that you can ask. It’s within the past 12 months we were worried our food would run out before we got money to buy more. That’s question one we would ask our families, either yes or no. And then the other one is within the past 12 months, the food we bought just didn’t last and we didn’t have money to get more. And again, we have them answer yes or no. And if families answer yes or no to either of these, what we’d usually recommend is considering a referral to social work or at least to ask some further questions unlike access to food and food insecurity.

There are other questionnaires that are used from a research standpoint such as the National Center for Health Statistics, US Household six item short form Food Insecurity survey. There’s also an 18 question one, but a lot of these are quite long and not I think the best thing to use in a busy practice. The other nice thing about the Hunger Vital Sign, it’s been validated in a busy pediatric practice before, so that’s why I usually try and advocate for that tool.

Vanessa Weisbrod:

From a practical standpoint, how did these screening tools get used in the clinical setting? Who asked the questions?

Dr. Nan Du:

This is such a good question, and I will be honest. I don’t think we have found the perfect solution yet, and I think this is an area where we need to do better, to be totally honest. And also I think it really depends on the clinic. Some clinics have families fill out a form that has these two questions when they check into the appointment, and so it’s completed by the time the clinician comes into the room. Some can have clinicians ask the questions directly during the appointment, maybe during when they’re asking about social history. Some may ask it during the time when the nurses are drawing their vitals and basically it serves as an actual vital sign. It’s a sign for you maybe that you need to dig deeper just on a social level.

I wish I had just a simple answer to be like it should be just done at this time. But I realized that all different clinics are designed in different ways. So I think this is where clinicians especially might have to think with their staff on where they think it works with the clinical flow.

Vanessa Weisbrod:

How challenging is it for you to ask your patients about food insecurity?

Dr. Nan Du:

I think it comes with a little bit of practice as you figure out personally what works with your clinic flow and your style and how you interact with your patients. From my perspective, I will usually throw it in with questions when I ask about how’s school? How’s the gluten-free diet going? What do you do when you go out with friends or do you have any issues getting gluten-free food? I really want families to feel comfortable talking about this with me, because it’s really just part of their medical visit. And I also really want to make sure they have all the resources that they need to succeed. And that’s kind of how I started off with. And the other thing is I usually don’t like to start off with this question, I usually like to kind of ease into it, but I still want to leave enough time in the visit for us to talk about food insecurity if it actually is an issue. So somewhere in the middle of the appointment.

Vanessa Weisbrod:

What do you advise for other clinicians to normalize asking these food insecurity screener questions? I know everyone isn’t quite as skilled or comfortable with it as you are.

Dr. Nan Du:

I think a lot of it is practice. Don’t get me wrong, it is challenging when you’re trying to remember all the things you need to ask and talk to your patients about. I think my best advice is start incorporating in whenever you do remember it, try it in different parts of your appointment as you figure out what works with your flow. Sometimes I actually will write it directly in my note, which I sometimes use as a template for what questions I want to ask. So when I get to it it’s almost like an additional reminder. Like I said before, I don’t usually have it as a first thing we talk about, but more after we’ve broken the ice, we’ve talked a little bit about how school is going.

And I will often start the discussion by saying, hey, the gluten-free diet’s pretty expensive, I just wanted to check in about access to gluten-free food. Some of my other patients have been having maybe some issues, let me know, I’m kind of curious. To really make sure that they’re comfortable knowing that they’re not alone.

Vanessa Weisbrod:

That’s a really good point. Knowing that they’re not alone can really help them feel more comfortable. Do you think that patients are ever afraid to disclose to their physician that they’re struggling to provide food to their child with celiac disease?

Dr. Nan Du:

Yeah, of course, I’m sure some patients are, and I can totally understand that. I think our job as physicians, we really don’t want to judge and we really want to just offer assistance in any way we can. I think we’re learning a lot how when you’re coming to see your doctor, we are not just talking about the medications, but also the whole system and what is around the patient, all of the social determinants. And so I also realized that sometimes individuals may not be comfortable on the first visit when they’re asked, but I will continue to ask it and make it a regular part of their routine visits so they know that it’s coming.

And we’ve actually also found that when we screen patients in their clinic visits, that it often doesn’t happen on their first visit or second visit, where food insecurity ends up being an issue. And so I just want them to know that if it’s not an issue now, that’s okay. If it is in the future, I’ll still continue to care and want to know about that. And so I think also being open about it and being consistent of when you ask the questions is also an important thing.

Vanessa Weisbrod:

Absolutely. Is there any risk to a parent disclosing that they’re struggling to provide food for their child? Could it lead to involvement of the Department of Children and Families looking into neglect?

Dr. Nan Du:

I really want to emphasize to families that are struggling to provide food for your child. This will not cause DCF to look into your family for neglect. This is really just us trying to get all the resources we have in our clinic available for you. Because if we don’t know, then we’re not able to help. And so I really want to stress that because I know that has been a fear and concern in the past that if they indicate that they’re not able to provide food to their child, they may be investigated. And that is not our goal in screening for food insecurity. Our goal is very much to contribute to the overall health of the family and not cause more stress.

Vanessa Weisbrod:

I think that’s the most important thing that you could have said today, in that we hear so often in our Celiac kids connection support group that families are so worried to bring up the idea of food insecurity to their doctor because they’re afraid they’re going to be reported for not being able to adequately care for your child. And so I hope that if there are families listening, they really take what you said to heart and can trust their doctor to help them in the process of getting food. So now that you have a patient that is screened positive for food insecurity, what happens next?

Dr. Nan Du:

That’s such a good question. And I think this really speaks to how when we are taking care of our patients, we’re not alone, it is not just doctors who are available to take care. We really have an amazing team that really supports us and supports the patients. And so I think when a family discloses that they have food insecurity or they do screen positive, I oftentimes will ask a few more clarifying questions in terms of just trying to get a gauge of the severity of it in terms of how often is this happening? Was there another change in the family’s life that maybe I missed when I asked prior questions on how things were going in their life? Was there a loss of job? Was there loss of housing? Because we know a lot of these things can be all interconnected. I think I always also like to mention how food insecurity can impact how you adhere to a gluten-free diet.

There’s been two studies that have come out that have actually shown that relationship. And I think also in the visit I’ll discuss how I really get to then draw on the amazing members of my team, such as our social workers and our dieticians, and how we’re going to set up some visits with them to help make sure that the resources that we have available through the hospital as well as through these two people can also get connected to the family. So usually in the visit that’s what I start with, and then I start making those connections and making sure I get approval from the family that these people can reach out.

Vanessa Weisbrod:

So talk to us about the role of the social worker and the dietician in supporting food insecure families with celiac disease.

Dr. Nan Du:

I wish I had more time to talk because I really want to rave about these two individuals in our team, because they really help support our families with these, with food insecurities. So our social workers usually we’ll kind of do even a more complete assessment in terms of what’s going on at home, in terms of, as we talked about, food insecurity is one of the social determinants of health, but there’s many things that are interconnected. So they might ask about in terms of electricity, is there housing stability? Is there transportation issues? Just trying to really gauge the multiple factors that can be involved when you have food insecurity. And they start connecting them to resources, because I think at least in Massachusetts, this is really state dependent. That’s one thing I do stress, but at least in Massachusetts, there’s many great supports that are available for individuals who need maybe some electricity support or relating to almost issues with housing landlords.

And oftentimes families are just not aware of those resources, are not able to connect to it. And so our social workers really help them with that. And then also just directly connecting them to food banks. And then if your hospital actually has a food pantry like ours do, they help connect them to that and make sure that they qualify for that. Our dieticians, man, our dieticians, really are the all stars of our celiac program, because I think the really important thing also to think about with the gluten-free diet, is that not all food has to have strictly the label of gluten-free on it. There’s a lot of also natural gluten-free foods, and our dieticians are absolute all stars on finding ways to make sure they can find more affordable, still safe options for our families on a gluten-free diet.

And we’ve started actually to do some classes related to that. I’m trying to find affordable meals for families to be able to fall back on if they need it.

Vanessa Weisbrod:

It’s really so challenging. I so sympathize with the mom in our patient story today, thinking about only being able to give her child six pretzels at a time so that she could stretch how far that bag of pretzels went. I can’t even imagine, I have two young boys at home and having to say, you’re only allowed to take six pretzels out of the bag at a time, it’s such a challenging thing. And so I agree the dieticians and social workers are just so key in helping these families get to a place where they can make things work. So thank you Dr. Du for all of this wonderful information.

We’re going to take a very quick break and when we come back we’re going to talk about your fascinating research on food insecure families with celiac disease, as well as how to connect patients to community-based resources. We’re going to take a quick break to hear from our podcast sponsor, the Global Autoimmune Institute.

Speaker 4:

The Global Autoimmune Institute works to empower solutions in the diagnosis and treatment of autoimmune diseases through research, education, and awareness while supporting multidisciplinary approaches to health, we are thrilled to support the production of this educational podcast.

Vanessa Weisbrod:

Welcome back everyone. So Dr. Du, let’s shift gears and talk about your research on food insecurity in the pediatric celiac community. Can you tell our listeners why you started doing this research and what you found?

Dr. Nan Du:

A lot of it as you can imagine is how research usually gets inspired is based on our patients. So as a fellow during COVID, I had a patient family who had celiac disease who were food insecure. They had incredibly limited supports from the government and then just also locally. And when I was diving through the literature, there was really limited amount on how one prevalent food insecurity was in the celiac populations, and really even less on how it impacts families. I’ll say there are two articles out that kind of came out in between or while I was doing the research. One was they were both kind of conducted in adults, which showed that dietary restrictions did make people more food insecure. And the second paper, which was modal, they used NHANES dataset, found that one in six celiac patients were less likely to adopt the gluten-free diet and had reduced daily nutritional intake.

But I think these were all in adults and these studies were actually being conducted around the same time I was starting to ask these questions. And I think the second reason why I got interested in this research, is in order to really get funding and support for the families and to really highlight this problem, you oftentimes have to first prove that there is a problem with data. So this is what really inspired the project as a hope that’s with some more concrete data we can really get people to help us start to generate solutions for the food insecurity that we know that our patients are having, but maybe we’re often not asking.

Vanessa Weisbrod:

So tell us what you found in this research. What were the interesting things?

Dr. Nan Du:

Sure. I realized I should actually give everyone just a really brief premise on what my research was on and what we did. Vanessa, as you explained beautifully, we did a study where we tried to determine the prevalence of food insecurity in families with children on a gluten-free diet. It was one of the first to determine the prevalence of food insecurity. And we also assessed how food insecurity affected the gluten-free diet specifically actually during the COVID pandemic. And we conducted an electrical survey via social media in 2021 where we asked individuals, the Hunger Vital Sign, the six item food security module, their gluten-free food accessibility, and then also a few other questions related to their social economic status.

And then going back to your question in terms of in the study what were the rates of food insecurity different in cities and rural areas? We found that rural communities had the highest rates of food insecurity and gluten-free food insecurity. And although food insecurity rates did not change significantly during the pandemic for the rural communities, small towns tended to be the most negatively affected by the pandemic with an increase in both rates of food insecurity and gluten-free food insecurity. I think it’s an interesting point, because I think when you think about it in terms of from a bigger picture of social determinants of health, you’re like, oh, maybe there’s a smaller, it might be small, but there’s more community supports.

But then at the same time, I think the pandemic very much highlighted the breakdown in the food production system where I think a lot of places in the US began to have lack of access to gluten-free foods because certain companies weren’t able to get their foods there just due to transportation issues. But yeah, I think it’s interesting because it also asks the question of how should we be distributing the resources to help food insecurity as well?

Vanessa Weisbrod:

Absolutely. So what was the prevalence of food insecurity in the pediatric celiac world?

Dr. Nan Du:

During the COVID pandemic, we estimated that it was about 24% for overall food insecurity and 27% for gluten-free food insecurity, and both increased during the pandemic. And what we also found that there was a population that were food secure but screened positive for gluten-free foods insecurity. So it was important to ask about both.

Vanessa Weisbrod:

That’s really interesting that a family could be overall food insecure, but then when asked specifically about the gluten-free diet, screened positive. And I think that really almost begs the question of why providers should be asking about food insecurity over time and not just at one point.

Dr. Nan Du:

I agree. I think our study really found that there’s, in terms of how you ask the question of food insecurity, it’s not a one and done question, it’s very much something that can change in between visits. And so I do think it’s important that you ask the question multiple times for sure. And also specifying about gluten-free food as well.

Vanessa Weisbrod:

Exactly. Because at their first visit with you after diagnosis, when they haven’t really switched to the gluten-free diet yet, they may not have gone grocery shopping and seen what those costs are. Much like our patient, Javier, that his parents felt very empowered and educated after that first education session with the dieticians, but it wasn’t really until they went shopping and saw what those bills were and how dramatically it was going to impact them, that they realized the food insecurity piece had come up. So definitely a plug for asking many times along the way.

Dr. Nan Du:

And I think the other thing I also want to stress is that I think it’s important also for physicians not to let their own biases also get in the way. Because I think the other thing, which was a little bit of a limitation of my study, is actually most people who answered for my survey were those who were in the privileged social economic status with income greater than 80,000. They were well-educated and from zip codes that were defined as comfortable and prosperous. It was actually a very well-educated, well-supported group of people. And yet we still found these levels of food insecurity.

And so I think it’s really important that people still ask the questions when maybe they might feel that the families are well-supported or maybe from a higher income level, because what our data shows is that people can still screen positive for food insecurity in our celiac patients at the higher income levels. And then I think that also gives the additional caveat that with our study, we found these levels in a population that’s relatively well-supported. What would we have found if we had asked in those of a lower social economic status?

Vanessa Weisbrod:

Absolutely, and this just brings up the point of income levels that are set for state and federal aid programs. They don’t take into account the cost associated with managing a special diet and what those additional hardships have. So we see families all the time that they’re trying to qualify their kids for free breakfast and lunch at school or qualifying for WIC or SNAP, and they make slightly too much money to qualify, but there’s no allowance in those calculations for what the cost is of the gluten-free diet.

Dr. Nan Du:

And I think this is a good time to at least mention that in terms of from a research standpoint, when they did market-based studies, that the gluten-free diet can be from two times to almost 10 times more the cost of a gluten containing diet. And so it can really make a huge difference the types of foods that you’re buying.

Vanessa Weisbrod:

For sure. So your data showed that 10% of families made the difficult choice to feed their child gluten because they couldn’t access gluten-free food. Can you talk more about this?

Dr. Nan Du:

I think this was actually one that we were actually a little bit surprised about from a finding standpoint. We found that there was a doubling basically of intentional gluten ingestion due to limited gluten-free food availability from prior to the COVID pandemic to during the COVID-19 pandemic, which we found was then the one in 10 households with a child on gluten-free diet, gluten was consumed intentionally because they had limited gluten-free foods. And what we also found was that in looking at our models, that your odds of having intentional gluten ingestion increased about five to seven times if you were either food insecure or gluten-free food insecure if you screened positive. And the other risk factor that put you at higher risk of this intentional gluten ingestion was if there was multiple household members who are following the gluten-free diet.

I always like to present this because I think it tells us, again, a few important things that we need to ask families when they come in for our follow-up appointments with celiac disease. One, it’s still important to ask about food insecurity. Two, it’s important to ask about gluten-free food insecurity because both of those increase the risk of intentional gluten ingestion. And three, it’s important to think about the general context is are there a lot of people in the household who need to follow a gluten-free diet? Because oftentimes you might think, oh, they might be better at following the gluten-free diet because more individuals are eating it, but there might be a component where that it’s actually then financially prohibitive and that they might actually then be intentionally ingesting gluten.

I do want to also stress as I know this isn’t totally relevant to the food insecurity perspective, but we totally acknowledge that there are moments in which individuals will have gluten ingestion. So this isn’t a comment on trying to do 100% on that, but I think what we’re trying to do is when families have a choice to not be forced to be deciding between do I get to eat or do I have to eat gluten?

Vanessa Weisbrod:

Absolutely. So as a physician, how do you counsel a family who comes to you saying that they are intentionally feeding their child gluten?

Dr. Nan Du:

I always first ask just, hey, just explain to me why. Because I think there can be a lot of things that are related to it. Some of it is their child’s not having symptoms when they eat gluten. So oftentimes that might just involve more education about the long-term effects of gluten ingestion on your intestine in terms of micronutrient issues, as well as issues with growth like osteoporosis and all of that. And then if it is financially motivated, I think it’s really important to meet the families where they are and to really ask, is it because things are expensive? Is it because they think it won’t do any harm? Is it because you don’t see any side effects?

I think it’s really important to figure out what’s the reasoning of it before then figuring out the best way to help these families. And then if it is related to financial reasons, I think it’s really important to again, offer the resources. I think some families may not want to take advantage of the resources, and that’s also okay, but I also want them to know that it is available for them, that it’s not a weakness or anything of sorts. In fact, this is part of the medical treatment for their child.

Vanessa Weisbrod:

So you’ve only touched on the tip of the iceberg with research in this area. What do you hope to learn next?

Dr. Nan Du:

Oh man, so many things. I think the first we talked about briefly already in the beginning of the podcast, which is screening. How can we best screen for food insecurity and gluten-free food insecurity? How can we do it in a manner that becomes well integrated in the clinic? And how can we get all providers involved in it? I think the second is something you also brought up briefly, and it was also in our patient’s case, is the role of school lunches. We are very lucky in Massachusetts as now they just passed that all school lunch and breakfast will be free for all students regardless of need. And we are actually starting to look into why some of our families don’t end up using that even when it is free. And so I think what the bigger question of that is, how do we utilize the resources that are available for our families in a more optimized way and to make sure that they are comfortable using it?

And if they’re not, how can we as medical providers get involved to make sure all parties are comfortable in providing safe gluten-free food to children with celiac disease? And then I think the third component also is emergency food services is another thing. And then the fourth is, what are other ways we can integrate food as medicine into our practice and have it be successful? And then the final thing is, I think that question about intentional gluten ingestion in the setting of food insecurity is one that I would love to see if we can prevent. We might be doing some research to see if there are certain things we intervene on, can we prevent that being something that families have to turn to?

Vanessa Weisbrod:

So let’s talk about resources. I think that oftentimes a lack of resources is a reason that physicians don’t like to screen food insecurity. So what can clinicians do to help a family that are struggling to provide gluten-free food to their child?

Dr. Nan Du:

And I totally acknowledge that with food insecurity is rising for all groups of people, it is not just those with celiac disease. And I think oftentimes when there’s a limited number of resources, that it can be at times hard for people to say, oh, save it just for this population. I think what I usually like to say is be creative, utilize all your community resources. Your patients have celiac Disease, but they’re also children and they’re also members of their community. And that there are ways to utilize the resources such as with our dietician, finding natural gluten-free products, whether it through the WIC program or whether through the food pantry. Those are ways to figure out how to use your community’s resources. And the problems you find in patients with celiac disease can also be found in those with food allergies. So ally yourself with other groups that might have similar needs to try and have a bigger voice at the table.

And I think the other thing related to that when we think about other resources, is that if you can’t find anything locally, think nationally as well. Because I think there’s many groups that are working on this, and you don’t have to reinvent the wheel every time. I think a lot of groups are more than willing to reach out and help. For instance, I know Vanessa, you and I actually helped out in a group in California where they’re talking about the food equity table, if I’m not mistaken, and hearing how they were brainstorming on how to get more resources specifically related to food insecurity in the community. And so I think sometimes signing up for those resources can be helpful as well.

Vanessa Weisbrod:

For sure. So food pantries in general do not have a great supply of gluten-free food. Why is this?

Dr. Nan Du:

It’s expensive, right? We talked about it before, and when they look at their bigger budget, they’re saying gluten-free food will technically only serve one to 3% maybe of their population. And the rising costs, oftentimes gluten-free products may not get the priority. And I think this is a really important point in that there are natural gluten-free products that in working with your dietician you can still access through the food pantry. And so it should not limit the food items that you have. I think in general we can advocate for food pantries to have gluten-free options, and I think that is super important in that even though it’s only one to 3%, there should still be options for our patients, but I also don’t want them to be limited by the availability and to know that there’s other options as well.

Vanessa Weisbrod:

Can you tell us about the food pantry at Boston Children’s Hospital and any other resources that you have available for patients?

Dr. Nan Du:

Yeah, so we’re really, really lucky at this hospital by some amazing work such as by Vanessa actually, and launching a new community program called, it’s Family Food Connections, is the title of our food pantry. It’s based in Jamaica Plain. It’s actually located in the Mildred Sea Haley Apartments, which is right next to one of our satellite sites at Martha Elliot. And it’s a Boston Housing Authority Development. And I think even when I say that title and all of the things there, I think what you’ll notice that’s amazing is that it’s near a satellite site. It’s in connection with another related to kind of housing, which is like we mentioned before, a social determinant. So it’s convenient for those in the community. And it also includes a lot of amazing resources such as free virtual cooking nutrition classes, and also there is a set aside gluten-free food. So families are able to go in and get bags of gluten-free products.

I think in order for them to qualify for that, they usually have to screen positive on a food insecurity screener. They’re assessed by one of the social workers and our GI department, and then are given that referral and then are able to go to this pantry directly. We also have some amazing options for individuals who are out of state or do not live nearby, and that through some generous donors we’ve been able to help support them with, they’re able to do mail order food packages. And then I think other resources in general is just that a lot of Massachusetts resources in terms of making sure they have supports on the other social determinants of health with housing, electricity bills and stuff like that.

Vanessa Weisbrod:

And Massachusetts has done such a good job with food at school. They are really are leaders across the state and food service programs that are making gluten-free options available for breakfast and lunch for kids with celiac. And so if families are listening that are in Massachusetts, either reach out to us for help or please talk to your food service providers, because gluten-free food is available in our schools here. So do you have any other suggestions for providers to help them with managing celiac families facing food insecurity?

Dr. Nan Du:

I think the big thing I want to stress is you do not need to reinvent the wheel. You do not need to feel that you have to set up an entirely separate food bank for gluten-free food. Start with local food banks, talk to them, explain what we’ve talked about in terms of the rising gluten-free food costs. It’s like we said, two to 10 times more, and work with local organizations and with local community members. Food insecurity I think has been rising in the last few years, but also there’s been an incredible recognition of how that impacts patient’s health. And so I think telling the stories of, for instance, our patient Javier and then also just other individuals might actually be able to at least get things moving already in existing resources instead of having to reinvent it or do more.

I think Vanessa, you probably can also list some actual groups that they could probably reach out to, so I’ll let you do that. But I really want to stress you don’t need to reinvent the wheel, there’s a lot of resources out there that you just need to connect to.

Vanessa Weisbrod:

Absolutely. And I think that for hospitals, partnering with a local food pantry is so important. One of the things we hear all the time from food pantries is that they don’t always have gluten-free food because they don’t know when they need it or who the families are that need it. And so if you have the ability as a hospital clinic to connect with the food pantry to let them know when you have patients that are screening positive so that they can be ready for them, I think that is something huge that you can do. It doesn’t cost you any money whatsoever, and it allows you to form a relationship and hopefully set up a pathway for your families being able to get food. One of the reasons that our food pantry at Boston Children’s works so well is that it is a direct referral from the provider to the food pantry.

And so we can track how many families are coming, how often they’re coming, where they’re coming from, and the types of food that they’re routinely asking for so that we know that it’s always available for them when they show up to get food. Forming those relationships with the pantries, having a system so that they know when families are coming and what they need, can just go so far in really making sure that they have consistent access to food. Thank you so much, Dr. Du for all of the wisdom that you have shared today. Now let’s find out where Javier is today.

Janis:

Javier is now in first grade at a local public school. He lives in a state that offers universal school meals and thanks to the help of his dietician has been able to get both gluten-free breakfast and lunch at school. During the school week. He gets gluten-free pancakes, muffins, bagels, and cereal for breakfast, and lunches that are nearly identical to those of his friends, like gluten-free pizza, sandwiches, hamburgers, and even macaroni and cheese. On Friday afternoon his cafeteria manager sends him home with a ziplock bag of gluten-free bagels and muffins to eat over the weekend, as well as vegetables harvested from the school garden.

Javier’s mom reached out to local food pantries for help, and now a local synagogue does a monthly collection of gluten-free food to help Javier and other families needing gluten-free foods for celiac disease. In her own words, Javier’s mom says, “This is so hard, I never thought we would need to rely on other people to feed our son. I’m grateful I didn’t have to feed him gluten and thankful that so many people have helped us. We will give back to all of them someday when we are able to.”

Vanessa Weisbrod:

Thanks for listening to this episode of Raising Celiac. A special thanks to the generous contribution from the Global Autoimmune Institute to make this podcast possible. A reminder to all physicians, nurses, social workers, dieticians, and psychologists, to claim your continuing education credits for listening to today’s episode, please visit dme.childrenshospital.org/raisingceliac, and complete the short survey attached to this episode. If you like what you heard, be sure to write a review, like and subscribe wherever you get your podcasts. For more information, check us out on social @BostonChildrensCeliac on TikTok, @ChildrensCeliac on Twitter, or @CeliacKidsConnection on Instagram. Have a great month.

Vanessa Weisbrod:

Welcome to Season Two of Raising Celiac, a podcast dedicated to raising the standard of education, awareness, and research on celiac disease and related autoimmune conditions. We have some exciting changes for this season. The Boston Children’s Hospital Celiac Program has teamed up with the Celiac Disease Foundation to expand the reach of our educational podcast. Our goal is simple, to provide education to as many health providers and patient families as possible.

I’m Vanessa Weisbrod, and I’ve started a new role as the chief education and community engagement officer at the Celiac Disease Foundation. In every episode, you’ll also hear from Janice Arnold, an incredible social worker at Boston Children’s Hospital, who is the voice of our patient stories. Each month on the podcast, we will invite leading experts to dive into a hot topic related to celiac disease and look at how it impacts a patient family, the latest research, and offer suggestions for health providers to manage these complex cases.

Every episode of the Raising Celiac Podcast is accredited by the Boston Children’s Hospital Continuing Education Department for physicians, nurses, social workers, dieticians, and psychologists. To claim your credits for listening to today’s episode, please visit dme.childrenshospital.org/raisingceliac. We’ll also drop that link into the show notes. Thank you to the Global Autoimmune Institute and the Celiac Disease Foundation for making this podcast possible. Now, let’s get started with this month’s Raising Celiac patient story.

Janice Arnold:

For the past 15 years, Elena has been a devoted teacher known for her love of literature and dedication to her students. She had a completely normal childhood with no notable health concerns. She met her husband while in college in Wisconsin and has two healthy children. But just after her 37th birthday, her life took an unexpected turn when she began experiencing persistent health issues that left her puzzled and exhausted. It all began with unexplained fatigue, digestive issues, and a constant feeling of being unwell.

Initially, she attributed it to stress from work. But as the symptoms persisted, she knew something was amiss. Elena’s journey to a diagnosis was a winding road of doctor visits, tests, and uncertainties. Though it was only four months, it felt like four years of feeling unwell. Finally, after multiple consultations with her primary care doctor and a referral to a gastroenterologist, she received the life-changing news. She had celiac disease.

Vanessa Weisbrod:

Getting a celiac diagnosis isn’t always easy, and it doesn’t always happen on the first trip to the doctor. Because there are so many symptoms of celiac disease that often mimic other conditions, it can take some time. As awareness of celiac disease grows, the time to diagnosis is going down, but there is still more work to do.

Janice Arnold:

Elena found herself overwhelmed with the celiac diagnosis. Adapting to a gluten-free lifestyle while managing the demands of teaching proved to be a significant challenge. She had to rethink her daily routines, from lesson planning and meal planning to navigating the school cafeteria where lunch was provided free of charge to staff members. Despite the hurdles, Elena’s experience ignited a newfound passion.

Recognizing the lack of awareness about celiac disease in her school community, she decided to become an advocate. She started by sharing her personal story during a staff meeting explaining the impact of celiac disease on her daily life. She organized gluten-free awareness activities like hosting a fully gluten-free food table at every school festival. At her school’s festival of cultures, instead of her traditional Irish table, her culture was celiac disease.

Elena collaborated with the school cafeteria to provide gluten-free options, which helped more than a dozen other students and two other faculty members at the school who also had celiac disease. And she started integrating lessons about celiac disease and other food intolerances into her teaching curriculum.

Vanessa Weisbrod:

Advocacy is crucial in the celiac disease community. Advocacy efforts help raise awareness about celiac disease among the public, healthcare professionals, and policymakers. Increased awareness leads to better understanding, early diagnosis, and improved management of the condition. Advocacy plays a significant role in ensuring that people with celiac disease have access to necessary resources, including gluten-free food options, educational materials, and support networks.

Advocacy can influence policymakers to direct more funds to celiac disease research. Increased research funding support studies aimed at better understanding the disease, developing new treatments, and improving the quality of life for patients with celiac. And advocacy efforts can contribute to changes in government policies, such as gluten-free food labeling regulations and food safety standards. These changes are essential for ensuring the safety and well-being of people with celiac disease in all aspects of their lives.

Janice Arnold:

Elena’s efforts extended beyond the school walls. She reached out to local health organizations, participated in community events, and even spoke to her primary care doctor about how she could educate other physicians in the area about celiac disease so others might get a quicker diagnosis. Together, they presented a lunch and learn to the other practitioners in the practice. For Elena, this was just the start. She wanted to educate more doctors and make the community better for everyone with celiac disease.

Vanessa Weisbrod:

Advocacy efforts can lead to the development of legislation and regulations that protect the rights and well-being of people with celiac disease. This includes advocating for accommodations in schools, workplaces, and public spaces to ensure a safe and inclusive environment. Advocacy can also greatly impact research and disease understanding when it leads to increased funding for scientists.

But how can patients like Elena and doctors be involved in advocacy efforts in a productive way? Should everyone start calling their members of Congress, or are their coordinated national efforts to join? We’ll discuss this and more on today’s episode of Raising Celiac. Today, we talk about advocacy in the celiac disease community with Marilyn Geller, the chief executive officer of the Celiac Disease Foundation.

Marilyn is the primary spokesperson for the patient and caregiver perspectives on celiac disease at North America, speaking at numerous domestic and international conferences, and most importantly, testifying before the House Committee on Appropriations Subcommittee on Labor, Health and Human Services, Education, and Related Agencies.

Under her leadership, the Celiac Disease Foundation secured annual appropriations language directing the NIH to devote sufficient focused research funding to the study of celiac disease for the first time ever at $9 million. Also for the first time ever, the Department of Defense is now dedicating highly coveted research dollars to celiac disease. Welcome, Marilyn, to Raising Celiac.

Marilyn Geller:

Hello, Vanessa, and thank you for inviting me here.

Vanessa Weisbrod:

So let’s start with how you got to the Celiac Disease Foundation. Tell our listeners your story.

Marilyn Geller:

Well, my story began in 2008 where my son, who was 15 years old, was diagnosed with celiac disease. He actually had been ill from birth. We had seen every specialist there was to see and we had no answers. And he was scheduled for a sinus surgery because they had determined that the reason why he could no longer get out of bed and had such GI issues could possibly be from the sinus drip that was going down the back of his throat because of his extensive allergies.

So they were going to do sinus surgery. And by this time, I can’t even enumerate the number of visits that we had had over his lifetime to try to figure out what was wrong with him. So they ordered a preoperative blood panel. And I said to his pediatrician out of desperation at that time, “Order everything and anything you can possibly think of because we know that our child is really ill and we really don’t believe it’s because of allergies.” And so she did, and she gave me a call.

And again, this is 2008 and we had never heard of celiac disease. And she said that he tested positive for celiac disease, that his antibodies were off the chart. I have to tell you, having never heard the word celiac before, I’m thinking the animal, the seal at the zoo. And then she said that we cannot eat gluten, and I’m thinking gluten, some chemical compound. We found ourself in the same situation that so many other parents do. And I’ll have to say that on top of this, my husband is a physician and he had not diagnosed our own son.

So at that point, she had said because his antibodies were off the chart that he actually did not need a biopsy, they were that high, which is not the recommended way to go, but I’ll just tell you our story. And the 15-year-old son who was an athlete and played football and soccer and tennis said, “If you are telling me that for the rest of my life I’m never going to be able to eat my favorite foods, pizza, pasta, burritos, I want a biopsy.” And of course, it came back positive. So at that point in time, it was everything that I could do to figure out how to feed him gluten-free foods.

In 2008, it was a very, very different market. And so I spent the first year really trying to make bread in the bread maker, cook our gluten-free food, and I was really just consumed with that. But about a year later, I realized that our child has a serious disease, a serious genetic autoimmune disease. Why are we not involved as a family with a foundation, with fundraising? And so we were very fortunate to find the Celiac Disease Foundation. I was actually invited to join the board of directors.

I served as the treasurer for a couple of years. And when Elaine Monarch, the founder, retired, there was an opportunity to step into her position. The board asked if I would consider it, and I did. And so 12 years later, here we are. My son is now 30. I will say it has still been a bumpy path from diagnosis to today, but that’s what keeps me going. Because for all of the parents, all of the children, the grandparents, our collective goal is to make sure that we get treatments and eventually a cure for this disease.

Vanessa Weisbrod:

Absolutely. It’s such an inspiring story to see how you used your son’s struggle with celiac disease and are now giving back in such a big way. So can you talk to our listeners about the historical landscape of advocacy and research funding for celiac disease at the federal level?

Marilyn Geller:

To me, it’s a very interesting story. In 2004, the Celiac Disease Foundation was instrumental in helping convene the Consensus Conference on Celiac Disease at NIH. And up until 2004, apparently our country believed that celiac disease was a rare pediatric disease that you could grow out of.

And Elaine Monarch served on the steering committee with other names, other KOLs in our field, key opinion leaders, and we were able to collectively convince NIH that this was not that rare pediatric disease, but that it was really one of the world’s most common genetic autoimmune disorders affecting both adults and children and you certainly can’t grow out of it. So from that meeting, led a 10-year effort to get the gluten-free labeling rule that the FDA put into place, voluntary labeling rule, in 2014.

So in 2019, I was invited to speak before Congress for the House Appropriations Subcommittee as to why there should be celiac disease research funding. Very, very fortunate that in our testimony, the chair of the committee, Rosa DeLauro, when I finished my testimony, said, “I have a colleague here in Congress and I’ve watched her all of these years be so careful in what she eats. She has celiac disease, but I never understood until now that this was really a serious disease.” And because of that, we were introduced to Betty McCollum, who is now the chair of the House Celiac Disease Caucus.

And through her efforts, we’re able to establish the caucus and be introduced to NIH. And since 2020, through the work of our patient advocates and the House Celiac Disease Caucus and all of the medical and research community, we’ve come together with Congress to assure that there’s been funding at NIH. So every year we work to renew this. Now, two years ago, we actually put in a request to the Department of Defense to find out if we could get celiac research dollars in what they call the Congressional Directed Medical Research Program.

And after only two years of asking, celiac disease was entered into the topic area just in 2023. And I’m very proud to say that in addition to the $9 million a year that’s been awarded through NIH since 2020, this year we have $7 million additional in grants through the Department of Defense.

Vanessa Weisbrod:

That’s so amazing. It’s really fun to hear this history. So I remember that NIH Consensus Conference in 2004. I was actually there with another hat on though. I was working as a reporter for Cox Newspapers and was assigned from their healthcare desk to cover that conference. And that was the day that I learned about celiac being a genetic condition.

My mom was diagnosed in the ’90s and her doctor never told her to have the rest of our family tested. So it was a long time later that I got tested in 2004, but it was because of that meeting that I learned about the genetic link and got myself tested. So it’s good to hear that history and how it all came to be. I want to hear more about the celiac caucus. Can you tell us how you were able to make this happen?

Marilyn Geller:

Certainly. So again, sometimes it’s better to be lucky, and we were certainly very, very lucky that Rosa DeLauro was compelled to speak with her colleague Betty McCollum about my testimony. So one of the things that happens in Washington, DC is you need to retain a respected advocacy firm to make certain that your disease voice is heard on the Hill. And we were very, very fortunate to be introduced to a firm called Baker Donelson, who has been representing celiac disease now again since 2020.

And we were also able to create a patient advocacy program where we’ve done in-person training and online training. And for those of you who are interested in the online training program, you can find it at iadvocate.celiac.org. But between the patient advocates that come from this program and the work with Baker Donelson, we were able to help rally other House representatives to join the caucus under Betty McCollum’s leadership.

Vanessa Weisbrod:

How is the level of funding for celiac research evolved over the years at NIH and DOD and what factors have contributed to those changes?

Marilyn Geller:

So as I mentioned, since 2020, NIH has allocated about $9 million a year for celiac disease research. And then again, DOD, this first year, $7 million. The factors are having researchers submit quality applications to both institutions. They go through rigorous review. And so it’s very, very important that not only is there a number of projects to choose from, but that the projects be well-supported in the institutions and have goals that really align with what the celiac disease community wants.

So in order to grow the funding, we just have to make certain that we submit more quality applications with, again, projects that resonate with our community.

Vanessa Weisbrod:

So to all of our researchers and scientists out there listening, submit great projects so that we can keep getting those dollars up. So how do you continue to increase the amount of funding allocated for celiac?

Marilyn Geller:

Well, in addition to the funding available at the federal level, we, the Celiac Disease Foundation, sponsor research grants directly. So from our donors, from our work in the celiac community, through our patient recruitment for Biopharma, we’re able to take those dollars and put them towards research grants.

So we now sponsor a number of research grants to put new investigators into the pipeline, to provide student mentored experiences during the summer, and looking forward to announcing next month a couple of more grants that will be in the health equity area and pilot projects in nutrition and education.

Vanessa Weisbrod:

That’s wonderful. Can you talk to us about the Celiac Disease Foundation’s collaborations with NIH and DOD?

Marilyn Geller:

So part of working with NIH is to make certain that the goals of the celiac community are heard when researchers are putting together their applications and they’re being selected. So beginning with the discussions at NIH that happened after my testimony, the next thing that happened is we sponsored a workshop with the organization, a medical society that I highly recommend that everyone listening to today join, the Society for the Study of Celiac Disease.

And we were able to bring NIH leadership to that workshop to really understand the goals of the celiac disease medical community, as well as the patient voice. From there, the Autoimmune Coordinating Committee at NIH invited celiac disease researchers and myself to again testify before the Autoimmune Disease Coordinating Committee, which does look at all of the different institutes at NIH that touch on autoimmune disease.

From there, they created a model where we could have a joint workshop, again, across the NIH institutes that would be involved to come up with a plan of what funding would look like. It’s become such a successful model that this is being utilized by both the Autoimmune Disease Coordinating Committee and NIH itself to look at how you can take diseases that have such great impact. We have about 1% of our country affected by celiac disease, again, making it a really common disease, and how those common diseases can receive funding.

Out of that has also come the NIH’s desire to establish an office of the OADR, which is going to be a coordinating office that will be directly responsible for coordinating all autoimmune funding across NIH, but again, based on the model that we were able to help put in place for celiac disease.

Vanessa Weisbrod:

So I know that you’re only in the early days of this and funding is only a few years old, but how do you envision the future of federal funding for celiac disease research, and what areas do you believe require increased attention and support?

Marilyn Geller:

Well, across the board for celiac disease, I think we would all say all of it. So there’s definitely folks looking at prevention. What could that look like? Certainly diagnosis, creating better diagnostic tools. We have research out there that is actually looking at being able to do a blood test without having to be consuming gluten for a long period of time to make the blood test work. Even the effort of drying the blood and mixing the blood with gluten ex vivo to determine if somebody has celiac disease.

So it’s certainly some very interesting things that can be done in diagnostics. And really important with those diagnostics because if we’re going to have celiac disease drugs in the future, we need to be able to test that they’re working. The other piece, of course, is disease management, how are we going to take care of people today, and then a cure, which I guess prevention could be a cure.

Vanessa Weisbrod:

Absolutely. So how does advocacy play a role in influencing federal funding decisions for celiac research? Do you have any success stories that you could share?

Marilyn Geller:

Well, I mean, certainly if we look at the fact that through our relationship with the Celiac Disease Caucus and the patient advocates who have taken the time to make personal appeals, either in their local districts with their representatives or at Washington, DC, but certainly rallying the troops to send emails. We have software at celiac.org where with a couple of simple clicks, you can fill out the template letters. It populates your name and your email and your address, and it directs it to the right people in the representative’s office to review it.

So between the thousands and thousands and thousands of email letters that have been sent by our advocates, these personal visits, the work of the caucus, all of those things really create the momentum on the Hill, and certainly in terms of the DOD funding to get that through in a couple of years to be added to the program when we’ve been told that there are other diseases who have been really struggling to be included for a decade plus. Again, just working on this focused effort with our advocates in the caucus.

Vanessa Weisbrod:

So we have a large audience of researchers, scientists, and medical providers who listen to this podcast. Any advice for how they can support advocacy efforts?

Marilyn Geller:

Well, I mean, certainly the iadvocate.celiac.org training program is fabulous for personal efforts. But of course, if anyone has a relationship with a representative or a senator or a special project, they can email us directly at advocacy@celiac.org. And then for those who come in contact with patients, certainly letting the patients know about the opportunity to advocate, again, starting with iadvocate.celiac.org.

Vanessa Weisbrod:

Great. So let’s shift gears and talk about patients like Elena. Obviously Elena had great motivation and passion for advocacy, but not everyone does. What are some simple ways that patients can join in with advocacy efforts?

Marilyn Geller:

Well, I keep saying join iadvocate.celiac.org, because what it really is is a series of video trainings so that it really explains to you, and then there’s links to resources and tools. And so you can self-serve on that. The simplest way is, again, on our website, there are email templates to support pieces of legislation. So if you go to celiac.org and you click on Get Involved, there will be a dropdown that talks about legislation.

So for instance, medical nutrition therapy for people with celiac disease under the Medicare program right now to receive dietician coverage for visits is legislation that we’re working on. You click the link. You put in your name and your address and your email. And you click the button again and your letter gets sent to Congress. And if you really want to, you can share again with a click of a button on your social media to encourage others to do it.

So to me, that’s the simplest way, click the links, and that email makes a dramatic impact. Because the more that the office hears about their constituents wanting these types of legislation, the more it happens.

Vanessa Weisbrod:

Absolutely. Can you talk to our listeners about current efforts to expand gluten-free labeling of food and medications?

Marilyn Geller:

All right, so I talked about the Medical Nutrition Therapy Act, but there is another act that is also on our website that you can click the button and encourage your congressperson to support, which is the Food Labeling Modernization Act. And what this does is it updates the front-of-package food labeling requirements. It requires updates to the ingredients list on packaged foods, and it makes the consumer friendly labeling view. So that when you go to look at your packaging, you can more readily tell if a product contains gluten in addition to the label of gluten-free.

So there’s that. The other thing that we have done is in terms of gluten and medication, we know that this is a concern of the celiac community, there is not an FDA guidance that has been implemented. There’s been a draft guidance that has been there for a number of years with comment, but right now no legislation regarding gluten in medicine. So what we have done is we have partnered with industry. We just announced our partnership with Mark Cuban Cost Plus Drug Company.

We’ve been working with Mark Cuban’s company for over a year to make sure that for our celiac population, they can have the consumer confidence for the drugs that they can get through Mark Cuban, that they’ll be able to be told, there’s an email line, there’s a telephone line, whether those drugs have gluten in them. So that’s another way that we’re trying to work not only with Congress and the federal agencies, but work with private industry to address our audience’s needs.

Vanessa Weisbrod:

Great. So there are lots of voices online and on social media talking about different hopes and dreams for advocacy. What is the best way for people to coordinate their requests for these federal agencies here a unified message?

Marilyn Geller:

Well, it keeps coming back to join iadvocate.celiac.org. One more time, iadvocate.celiac.org. Again, if that is too big a lift, you can go to get involved under celiac.org and you can click on the legislation and click those emails to support the legislation that’s of interest to you. Again, also so that you can know what new legislative opportunities come aboard, certainly on our website, on the homepage, celiac.org, you can sign up for our email updates. And then that’s really simple because it will just email to your inbox, “Here’s legislation to support.”

You click the link. It takes you directly to that piece of legislation. Again, you put in your name and your address, you click it, and you’re done. So again, iadvocate.celiac.org and use the celiac.org’s email templates for Congress. And of course, if you have a relationship that you’d like to strengthen with your congressperson or introduce to Celiac Disease Foundation, or if you have specific projects, please reach out to us at advocacy@celiac.org.

Vanessa Weisbrod:

And if for any reason someone did not get what the URL is, we’ll be sure to include it in the show notes. Before I let you go, Marilyn, let’s talk about the growing number of food insecure families with celiac disease. We know our healthcare providers, many who are listening today, are seeing them in their clinics and they need resources to help these patients treat their disease.

A number of these families are currently enrolled in the WIC program, but are struggling to find gluten-free products that are included. Can you tell our listeners about your work with the WIC program to improve access to gluten-free products?

Marilyn Geller:

Yes, thank you. So in addition to having our patient advocates send emails or meet individually with their representatives, we do work directly with the agencies. And so in the case of WIC, right now, currently, there are packaging and ingredients requirements that exclude gluten-free products like bread from the program. So for example, a loaf of bread has to be a certain weight and size. They have to contain whole wheat.

And if they don’t contain whole wheat, they can’t have added sugar and oil, which for those of us who eat gluten-free products unfortunately know that without the gluten, the sugar and the oil is what gives it the flavor. So based on that, the people who are enrolled in food subsidy programs are really struggling, as you said, to find gluten-free products, and particularly ones that are nutritious.

So in ’22, we were able to lead an expert group of 21 medical professional and nonprofit organizations in a letter that was addressed to the US Department of Agriculture to improve food safety for patients with celiac disease and who do participate in the special supplemental nutrition program for women, infants, and children, also known as WIC.

So the WIC program is designed to safeguard the health of low-income women, infants, and children up to age five who are nutrition risk by providing nutritious foods to supplement diets, information on healthy eating, and referrals to healthcare. So we recognized the agency for including naturally gluten-free products in the program, fruits, vegetables, proteins, but we really wanted to make sure that included in that were the products that we all need, bread, cereal, and those types of options.

And so again, that’s again how we can work directly with the agencies on behalf of the celiac community, and we regularly survey our celiac community to find out what the priorities are. And certainly food insecurity is first and foremost, particularly after the pandemic, on people’s minds.

Vanessa Weisbrod:

Absolutely. Well, Marilyn, this has been such an amazing discussion and it really highlights how there is so much room for advocacy engagement both from the public and from healthcare providers. Thank you so much for all of the wisdom you shared today. And now my favorite part of the podcast, let’s find out where Elena is today.

Janice Arnold:

Elena is still hard at work advocating for the celiac community. Her journey is a testament to the transformative power of advocacy. Her commitment not only improved her own life, but also positively impacted the lives of those around her. In her own words, Elena says, “I’ve witnessed a positive shift in understanding and support within my community.

However, raising awareness wasn’t without its challenges, mainly due to misconceptions about celiac disease. Overcoming these hurdles requires persistence and education. I’m dedicated to the cause and can’t wait to see what the future brings for us, perhaps a cure.”

Vanessa Weisbrod:

And now a word from the Global Autoimmune Institute.

Global Autoimmune Institute:

The Global Autoimmune Institute works to empower solutions in the diagnosis and treatment of autoimmune diseases through research, education, and awareness, while supporting multidisciplinary approaches to health. We are thrilled to support the production of this educational podcast.

Vanessa Weisbrod:

Thank you for listening to this episode of Raising Celiac. A special thanks to the generous contributions from the Global Autoimmune Institute to make this podcast possible. A reminder to all physicians, nurses, social workers, dieticians, and psychologists. To claim your continuing education credits for listening to today’s episode, please visit dme.childrenshospital.org/raisingceliac.

If you like what you heard, be sure to write a review, like and subscribe wherever you get your podcasts. For more information, check us out on social at @bostonchildrensceliac on TikTok, @childrensceliac on Twitter, or @celiackidsconnection on Instagram. Have a great month.