19% to completion
$4,718 / $25,000 goal
"You may not think celiac disease affects you - neither did I. My story (below) describes how this genetic disease can go undetected, even in a doctor. For millions of people with undiagnosed celiac disease - and it could be you - I hope you will donate. This research will help generations to come."
— Amy Burkhart, MD, RD

Barbara Cohn, PhD

Director
Child Health and Development Studies

I am the Director of the Child Health and Development Studies, where we have followed the health of more than 15,000 families since the 1960s. Our ongoing study spans more than three generations in these families, a unique treasure trove of data for science. We collaborate with researchers across the country to study both genetic and environmental influences in disease – a perfect setting for studying celiac disease.  Our study offers an unprecedented opportunity to understand the impact of celiac disease on pregnant women, their unborn children and grandchildren. I am passionate about helping women and their families live a full and happy life. I believe this research will provide practical implications for preventing the serious consequences of celiac disease that begin in pregnancy for the mom and before birth for her children and grandchildren. I am excited to make our study population available to help solve this important health problem and I am pleased to work with Dr. Alessio Fasano and his team at the Center for Celiac Research and Treatment.

Alessio Fasano, MD

Chief of Pediatric Gastroenterology and Nutrition, Director of the Center for Celiac Research and Director of the Mucosal Immunology and Biology Research Center
Massachusetts General Hospital

I have been treating and researching celiac disease for more than three decades. Since I founded the Center for Celiac Research in 1996, both diagnosis and awareness of celiac disease have greatly increased. However, we still have much to learn about the genetic component of celiac disease, and in particular, why the genes related to celiac disease are “triggered” in some individuals and not in others. Through the analysis of multigenerational blood samples in this project, we will be able to learn more about the generational development of celiac disease in families. With this knowledge added to other research, we are pursuing our ultimate goal of being able to prevent celiac disease by predicting who is most likely to develop the autoimmune disorder.

Summary

We are excited about this campaign. 100% of the funds raised will go directly to the Child Health and Development Studies for its part in this unique collaboration. 

Donations are tax-deductible to the extent allowed by law. 

Collaboration: We are bringing together two extraordinary institutions, each with a history of major scientific achievements, to illuminate our understanding of celiac disease, a common, devastating but vastly underdiagnosed condition. Celiac disease experts at the Center for Celiac Research and Treatment at MassGeneral Hospital for Children in Boston, Massachusetts, are collaborating with the Child Health and Development Studies, a major, ongoing multigenerational study in Berkeley, California. The Child Health and Development Studies is a project of the Public Health Institute.

What the study involves: The study is using thousands of archived blood samples to identify mothers who had untreated celiac disease during pregnancy 50 years ago. By studying a database of detailed health-related information about these families, researchers will then determine what the health outcome has been for the mothers with undiagnosed celiac disease and their children. Participants who are diagnosed with celiac disease as a result of the study will be notified and assisted.

Purpose: The goal is to learn about the health consequences of untreated celiac disease during pregnancy for mothers, their children and possibly their grandchildren. We hypothesize that mothers who have untreated celiac disease during pregnancy will have increased health risks, as will their children.

Additional donations over our goal amount are welcome. Aiming for success, we set a modest fundraising goal for this campaign. However, we will need $25,000 more to cover costs and that amount would come out of the CHDS operating budget, which is stretched thin due to decreases in National Institutes of Health funding over recent years. Please consider an additional generous donation to this campaign. All of the funds will be used directly for this celiac study at CHDS. Thank you!

Amy's Story: A Doctor’s Odyssey to a Celiac Diagnosis

By Amy Burkhart, MD, RD, pictured at top with her husband and three children

I have refrained for many years from telling the story of my celiac disease diagnosis, as I prefer to look forward instead of behind. However, this study inspired me to share it. My family’s story is a perfect example of the importance of studying how celiac disease can impact the health of multiple generations. My journey to diagnosis was dramatic, prolonged and left me approaching death. Even though I am a physician and a registered dietitian and was ill, I remained undiagnosed for 10 years. I was training at top medical institutions, yet my colleagues had no explanation for my symptoms. This is a testament to how sneaky celiac disease can be and how a diagnosis can evade even those entrusted with its discovery.

Something wasn’t right

I don’t recall being exceptionally ill as a child, but I do remember being a skinny girl with a chronically bloated belly that was always attributed to poor posture. By the time I arrived at U.C. Berkeley to study clinical nutrition, my health was beginning to decline. It was always attributed to the stress of putting myself through college, even though I never felt particularly overextended.

In medical school, I was so tired I frequently had to lie down while I was on call. I had terrible menstrual cramps, anemia, vitamin deficiencies, neurological problems, hair loss and weight loss. All were attributed to the stress of being a medical student. I didn’t feel stressed about anything except my unusual symptoms. At one point I was urgently called to the health center for a low blood count that needed to be immediately addressed. They attributed it to being a vegetarian. No one looked further. Amazingly, I remained undiagnosed, even during my residency training at Highland Hospital/U.C. San Francisco. In retrospect, I have no idea how I made it through residency.

Emergency room and misdiagnoses

I got married and moved to Hawaii to work as an emergency room doctor. However, within a year of my arrival I was in the ER as the patient instead of the doctor. I had been getting progressively sicker, but my symptoms were once again attributed to stress. I worked part time and lived on the beach in Hawaii. I hardly felt stressed! But one day, I landed in the ER with sudden onset dizziness and stroke-like symptoms.

One specialist erroneously diagnosed me with multiple sclerosis and wanted to present my case at a conference because it was so unusual. Another misdiagnosed me with Lyme disease, which led to months of unnecessary antibiotics.  During the treatment for Lyme disease, I went on disability because I was too ill to stand, let alone work. I was also put on heart medications for low blood pressure. I continued to get worse.

Reaching farther for a diagnosis

My colleagues were baffled, and while supportive, they had no answers. I began to see alternative practitioners and order additional tests on myself. One of the panels I ordered was an alternative medicine food sensitivity panel that happened to include celiac tests. When the celiac tests came back positive, I was confused. I thought it had to be diagnosed in childhood. I had a lot to learn.

I carried the results to my doctor and requested she run a celiac panel at Kaiser. When the results came back, my numbers were so high the lab stopped counting. A gastroenterologist confirmed the diagnosis with a biopsy. Mine was the first case of celiac disease my internist had ever seen, and I was the subject of grand rounds (physician education) the following month. I never wanted to be “the interesting case,” but I was thankful my diagnostic odyssey would help educate fellow doctors.

Keeping the family healthy

After many months on a gluten-free diet I became healthy for the first time in my life and was fortunate to have three wonderful children. The oldest has celiac disease and the other two have such a high genetic risk that we choose to have them on a gluten-free diet. We will do a gluten challenge when they are older (reintroducing gluten to the diet for the purpose of testing), but for now we are a 100% gluten-free household.

As a result of my diagnosis, eight of my family members were diagnosed, including my mother and sister. This is a staggering number. My family members are no longer ill and the radar is up for diagnosis in subsequent generations. Earlier diagnosis means less suffering from undiagnosed celiac disease and fewer long-term complications. My diagnosis has positively affected my family for generations to come.

Amy Burkhart, MD, RD, practices in Napa, California, where she is currently on a sabbatical. She continues to write articles, educate the medical community and speak at support groups. www.theceliacmd.com

Please scroll back to the top to donate to this unique and valuable multigenerational study

Why is this important?

We aim to increase understanding and awareness of the disease and potentially provide evidence of the importance of screening children and young adults, thus reducing the disease’s impact on multiple generations.

The ultimate goal is to prevent celiac disease before it develops. Researchers at Massachusetts General Hospital, the largest teaching hospital of Harvard Medical School, are currently studying how a person moves from tolerance of gluten to intolerance. Although celiac disease research has been increasing steadily in the last decade, and many advancements have been made, this collaboration with a 50-year longitudinal study described as a national treasure is unique for the kind of insights and impacts it can provide. Celiac disease scientists will expand their understanding of the natural history of celiac disease. With evidence of the consequences of untreated celiac disease, testing for celiac disease may become a part of routine care for children and adults of reproductive age.

Who will benefit?

The study will benefit adults and children diagnosed with celiac disease and gluten-related disorders, and those at risk for these conditions. The study will lay the foundation for further significant research on celiac disease.

In addition, celiac disease is the only autoimmune condition for which the trigger has been identified (gluten), so scientists working in related health fields closely follow developments in celiac disease and use them to gain understanding of other autoimmune conditions.

Budget

The total budget for the study is $175,000. One hundred percent of funds raised in this campaign will go to the Child Health and Development Studies (CHDS) for the purpose of celiac research. Additional funding: The Center for Celiac Research and Treatment at MassGeneral Hospital for Children is generously providing in-kind support for its part in the study of approximately $100,000. The study also received a generous $15,000 grant from the Moca Foundation, a private family foundation, for a portion of the CHDS expenses.