Family Testing: Personal Stories from the Community
Living Without Symptoms: How Family Screening Prevented Long-Term Health Consequences
By Priyanka Chugh, diagnosed with celiac disease in 2004
My journey towards a celiac disease diagnosis is not one of pain, suffering, and years of misdiagnosis. In fact, it is quite the opposite. In April of 2004, my six year-old brother was diagnosed with celiac disease and in May of 2004, I was. My brother, Pranav, was sick for quite some time prior to being diagnosed and it was incredibly painful to see my baby brother suffer without any knowledge of how to help him. His diagnosis of celiac disease from the team at the Celiac Center at the Children’s Hospital of Philadelphia was such a relief, but I never thought that it would end up changing my life as well.
Due to the increased risk to family members of someone with celiac disease, my entire family was tested for both the celiac disease antibodies and genetic markers. Not surprisingly, all of my immediate family carries the genetic markers, but I was the unlucky (or maybe lucky?) one to have a positive antibody panel. At the time of my celiac disease diagnosis, I was off the charts for both height and weight for my age, had never had any significant GI symptoms, and my current diagnoses of asthma and food allergies were not anything particularly alarming. This was a stark comparison to my brother’s short stature, abdominal pain and more. My lack of symptoms proved to be my biggest barrier to compliance.
My mother breaking the news that only I, not my sister or parents, had a positive celiac disease panel from the family screening spurred a lifelong mental and emotional battle to maintain my health. In 2004, eating gluten-free was quite a different experience than it is today. We shipped food from other countries and just about everything tasted like seasoned Styrofoam. I never wanted to be the kid that had to eat the funny food and couldn’t go out to eat after school because I didn’t know if I’d have anything safe to eat. On top of the usual stressors that come with a celiac disease diagnosis, being asymptomatic presented different challenges. It meant that I never “felt better” or had any way of seeing that I was being helped by taking gluten out of my diet. I had nothing to hold me to this diet and also nothing to let me know if I had eaten something that could damage my health. I was left anxious and confused and increasingly angry.
However, my story doesn’t end there. I was fortunate enough to be able to go to Celiac Camp and to the Children’s Celiac Support Group at Children’s Hospital of Philadelphia, where I met other kids going through the same things as me. I took it upon myself to learn as much as I possibly could about celiac disease, including how it was affecting my body on a biological level. I started a gluten-free blog, The Adventures of Anti-Wheat Girl, to share my expertise, but also to learn from others and share experiences. Slowly but surely, my confusion and anger turned to clarity and strength. Today, I find myself more thankful than anything else that I did not have to suffer through everything that my brother did, and that I did not end up with any other related conditions due to undiagnosed celiac disease. I’m thankful to have grown up with the celiac disease community, and to have found my passion for life which has led me to pursue my dreams of becoming a physician.
Why does any of this matter? Why do I share my story? I do it for the possibility that I could help someone else. If I had heard from another asymptomatic patient when I was diagnosed, I would not have felt nearly as alone. If I had been able to speak with someone else who was diagnosed through family screening, I might have realized earlier that it is not a curse, but a blessing. The more I talk about my story, the more confident I feel that others will be encouraged to have those difficult conversations and speak with their families about screening for celiac disease. If we can all share our experiences, perhaps we can make the journey for the rest of our community a little easier and be able to move forward with lives beyond the seemingly endless constraints of a celiac disease diagnosis.