Susan's Story: A Mother's Struggle to Find the True Cause of Her Daughter's Illness

By Susan Blumenfeld

The week of my 35th birthday, my daughter Julie lay dying on a hospital gurney, waiting to receive general anesthesia. Not even two years old, Julie was very familiar with hospitals and tests. She was about to have an MRI to find out why she had lost so much weight, stopped walking, continued to vomit and pass stools that looked like undigested food. It was hard to believe that only six months ago she was a happy and healthy baby, with pudgy cheeks and lots of energy. Now, she could barely hold her head up, and inside I was screaming, because there was nothing I could do to make it stop.

And her doctors couldn't figure out what was wrong with her.

When Julie was 18 months old, my husband Levi and I began to notice changes in her appearance, especially when it was bath time. Her belly had become big and round, and her shoulder blades became very prominent. Her rear end had all but disappeared.

Around the same time, Julie began vomiting often--often enough that I would carry a change of her clothes, plenty of towels and wipes to clean her up afterwards, in the car, in the park, in a restaurant, in the grocery store. Julie became miserably unhappy and cried a lot, only wanting to be held.

Initially, when we saw our pediatrician, she said Julie looked fine, probably had lactose intolerance and felt that she was going through the "terrible twos" a little early. She recommended a book. My gut instinct told me that she was wrong, and that Julie was very ill. She could no longer attend preschool.

The vomiting continued, and my daughter's health declined. My friends and family would ask, "What's wrong with Julie?" I became frantic. By now, my daughter's diapers were full of stool that looked like undigested food and when I changed them the smell was terrible--not normal. It appeared to me that she wasn't getting her basic nutritional needs met--and I struggled to find something she could eat that would help her.

She continued to vomit, and each time, I called the pediatrician's office insisting that something was really wrong. Our pediatrician swung into action and began to order tests. She ordered blood tests, a kidney scan, a barium swallow and dozens more tests. It got to the point where Julie and I would go to the hospital two or three times a week for blood work, all while she continued to decline. She was tested for cystic fibrosis, where a hot copper coil was placed on her arm--and her arm was wrapped in plastic for a "sweat test." They looked for brain tumors, GI blockages and kidney disease.

She looked so sickly, like a starving child in a third world country. I've thrown away the worst pictures of her at this time because they are too difficult for me to look at.

She was diagnosed with cytomegalovirus and hepatitis, yet did not improve. My husband and I were elated to reach a diagnosis, then devastated when she continued to worsen. Levi is a medical doctor, and researched Julie's condition thoroughly, shortly after she became ill. When we asked Julie's doctors if they had considered celiac disease, they dismissed our suggestion with little more than a wave of the hand.

Five days after an MRI, a noted pediatric gastroenterologist came to see Julie. He took one look at her and told us she had celiac disease. The next day--my 35th birthday--she had an endoscopic biopsy and received the diagnosis. She's been on the gluten-free diet (the only treatment for celiac disease) ever since, and we have our daughter back.

Celiac disease is a common, inherited gastrointestinal autoimmune disorder that affects 1.4 million Americans--yet most physicians receive 20 minutes of instruction on it in medical school. Every day that a person with celiac disease goes undiagnosed, their risk of developing autoimmune disorders, neurological disorders, osteoporosis, infertility, and even cancer, increases greatly. Yet there are one million cases of celiac disease that go undiagnosed in this country.

That's why I've helped create the University of Chicago Celiac Disease Center, an organization with a mission to improve the lives of celiac patients and to raise diagnosis rates by advancing research on celiac disease and increasing awareness among medical professionals and the public.

So that children don't have to suffer. So that doctors think of celiac disease first, and not last.

December 2003


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