A Doctor’s Journey To A Celiac Diagnosis: The Effect On Future Generations

By Amy Burkhart, MD, RD

I typically refrain from telling the story of my celiac disease diagnosis as I try to look forward instead of back.  But, in honor of celiac disease awareness month, I am sharing my journey and hope doing so will help others.  My story is a testament to how sneaky celiac disease can be and how a diagnosis can evade even those entrusted with its discovery. It is also a  perfect example of how celiac disease can significantly impact multiple generations and why the study in the video below is monumentally important.  Even though I am a physician and a registered dietitian, my journey to diagnosis was dramatic, prolonged and left me approaching death.  I remained ill and undiagnosed for over 10 years all while training at top medical institutions. My colleagues and I had no explanation for my symptoms.  Arriving at a diagnosis should have been simple but no one, including myself, had celiac disease on their radar. Celiac disease awareness is vital to ensuring others don’t follow the same prolonged path to diagnosis. Research and education of the public and health care providers are the first steps.

Something wasn’t right

I don’t recall being exceptionally ill as a child, but I do remember always being the skinny, short girl with a chronically bloated belly. These are a few of the many symptoms of celiac disease. By the time I started college at U.C. Berkeley to study clinical nutrition, my health was beginning to decline. Every health care provider at the time attributed my fatigue and digestive symptoms to the rigors of college even though I kept telling them I didn’t feel stressed.

In medical school, I was so tired I frequently had to lie down while working in the hospital. Thank goodness for hospital sleep rooms! I had terrible fatigue,  menstrual cramps, anemia, vitamin deficiencies, neurological problems, hair loss, and weight loss. At one point I was even called urgently to the student health center for a low blood count.  They attributed it to being a vegetarian and never looked further. Knowing what I know now, I have never seen numbers like those in a vegetarian. All symptoms were again blamed on the stress of being a medical student. I didn’t feel stressed about anything except my unusual symptoms!

Unfortunately, I remained undiagnosed for years longer, 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. Within a year of my arrival, I was in the emergency room as a patient instead of the doctor. I had been getting progressively sicker, but my symptoms were once again attributed to stress. I had no children,  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.

I was given multiple diagnoses, none of them correct. One specialist erroneously diagnosed me with multiple sclerosis,  another with Lyme disease, which led to months of unnecessary antibiotics. The pressure in my brain was elevated and my blood pressure too low to even stand up.  I was put on medications. The drugs made me worse. I went on disability because I was too ill to do anything, let alone work.  I continued to decline.

Reaching farther for a diagnosis

My colleagues were baffled, and while supportive, they had no answers. I began to see alternative practitioners and order tests on myself. One of the panels I ordered happened to include celiac testing. 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. When the results came back, my numbers were so high they exceeded the lab’s scale. A gastroenterologist confirmed the diagnosis with a biopsy. Mine was the first case of celiac disease my primary care doctor had ever seen or at least the first she had diagnosed. I was the subject of grand rounds (physician education) the following month because I was “the interesting case”. That was nothing I ever aspired to be.  But, I was thankful my diagnostic odyssey would help educate other doctors. Since that time, it has become my focus to continue to educate the public and physicians on the topics of celiac disease and gluten/wheat related disorders.

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After many months on a gluten-free diet, I became healthy for the first time in my life. It wasn’t a quick fix as many assume, but over time and with diligence focusing on my health, I got well.

As a result of my diagnosis, eight of my family members were diagnosed. This is a staggering number. My family members are no longer ill and the radar is up for diagnosis in subsequent generations. My diagnosis helped three generations of my family live healthy, happy lives. It also means we will be prepared to screen future generations. Earlier diagnosis means less suffering and fewer long-term complications.

My diagnosis has positively affected my life, my family’s life and that of multiple generations to come.

Support celiac research

The study referenced in the video above is unique. Researchers are studying samples of blood taken from pregnant women over 50 years ago. They are screening for undiagnosed celiac disease in these women. If found, they will follow up on factors such as possible environmental triggers or effects of the missed diagnosis on the children. This is an unprecedented approach to celiac disease research and could lead to important progress.  If the effects found are frequent or significant perhaps this will lead to ways to prevent celiac disease or show benefit to testing all pregnant women. This would lead to increased diagnosis rates, which are dismal at the present time. Currently, 80% of people with celiac disease don’t know they have it. This number needs to change. Supporting research such as this is a vital step. Please consider donating to this project by clicking here or on the button below. Any amount is helpful, for generations to come.

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