Family Testing: Personal Stories from the Community
Mother & Son: When a Child’s Diagnosis Leads to Multiple Family Diagnoses
Name: Anne Lee, EdD, RDN, LD, Professionals Manager of Dr. Schar USA,
Location: New Jersey
I was a single working mom with three kids in grammar and high school. So fatigue, anemia, and constipation seemed to be “normal.” Abdominal bloating, cramps, and pain I often just attributed to overeating, stress or “something” I ate. For me, my symptoms were not anything I would seek medical attention for.
I was actually diagnosed because my son, Patrick, stopped growing. I asked our pediatrician to test him for celiac disease and his results came back positive. I then had my two daughters, my mother and myself tested. Both my mother and I were positive. One daughter had the gene but not the antibodies, the other daughter did not have the gene or positive antibodies. I had both.
It is so easy to think that you won’t be affected. That celiac disease will happen to someone else. But in reality, we need to raise awareness of asymptomatic celiac disease and less well-known symptoms, and the importance of testing family members, because the consequences of not being diagnosed are too great. A perfect example is my niece, who struggled with fertility issues for years prior to her own celiac disease diagnosis.
When Patrick and I were first diagnosed there was a great deal of denial by our extended families. I tried to talk to my family about their increased risk of developing celiac disease, and the ins and outs of my own diagnosis, in so many different ways over the years. In many ways I think my family found it hard to understand the magnitude of the diagnosis and the importance of their own testing.
There was such a lost opportunity to embrace the change and make the transition positive instead of creating feelings of shame and negativity. Dining out, travel and social eating have also changed. They are much more difficult, require more planning, carrying of my own food, and are socially limiting.
However, while navigating the social area of life has become more demanding I do my best not to let my dietary needs regulate my social life. My diagnosis has also impacted how I approach situations both at Schär and in my professional life in general. It has made me a much more compassionate healthcare professional, it has directed more of my professional research, product development and consumer and healthcare provider educational materials and platforms.