The Value of Family Screening in Celiac Disease: CJ and Bella’s Story
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Christopher and his wife, Heather, the parents of three children, had heard of celiac disease because a child in their neighborhood has it. But when three out of five members of their own immediate family, including Christopher, tested positive for the chronic autoimmune condition, the couple was caught off guard.
“There was no family history that we were aware of, so it was never on our radar,” says Christopher, who along with his son Christopher, 14, who goes by CJ, and daughter Isabella, 16, who goes by Bella, all have the condition in which the body cannot process gluten. With three family members receiving the diagnosis of celiac disease in the same year, the Children’s Hospital of Philadelphia’s (CHOP) Center for Celiac Disease, a national leader in patient care and research, delved in to help the family manage their new reality.
CJ was 12 when his parents mentioned their concerns about his slow growth to his primary pediatrician, Julie Rogers, MD, FAAP, during his annual well visit at CHOP’s Primary Care HighPoint site in Chalfont, Pa., not far from the family’s residence.
“He was dropping off the curve,” recalls Heather. At the time of the appointment, CJ weighed 83 pounds and stood 4 feet 7 inches tall, having dropped from the 75th percentile to the 50th and then to 22nd percentile for height in his age group. He also complained a lot about his stomach and trouble sleeping, both of which his parents attributed to anxiety. Though his issues never interfered with his honors standing at school or his extracurricular activities like soccer, basketball and baseball, CJ’s parents knew their typically “cool, laid-back son” just wasn’t acting like himself. They wanted to know why.
The examination that day included an X-ray of CJ’s wrist to check his bone growth. While it indicated that CJ was “a little behind” in his development, there was no red flag. But in an effort to allay his parents’ concerns, Dr. Rogers suggested the family make an appointment with Edna Mancilla, MD, an attending physician in CHOP’s Division of Endocrinology and Diabetes for a full panel of blood tests to rule out potential autoimmune disorders.
When tests showed a high probability for celiac disease, CJ was then referred to Jennifer B. Webster, DO, an attending physician in CHOP’s Division of Gastroenterology, Hepatology and Nutrition at CHOP’s Specialty Care & Surgery Center in King of Prussia for an endoscopy, which confirmed the diagnosis. To ensure they got personalized celiac disease teaching and dietary support, the family then went for a multidisciplinary visit with Arunjot Singh, MD, MPH, Patricia A. Bierly, MSN, CRNP, and dietitian Janel Steinhoff, RDN, LDN, all part of CHOP's Center for Celiac Disease team.
Celiac disease is an immune reaction to eating gluten, a protein found in wheat, rye and barley. Continued exposure can damage the nutrient-absorbing villi, the tiny, finger-like projections that line the intestine. Untreated, the side effects of celiac disease can be wide-ranging, including poor growth, anemia, malnutrition, abdominal cramps and bloating, chronic diarrhea, irritability, brain fog, other autoimmune diseases and certain cancers.
“He had total atrophy to the villi,” Heather recalls of CJ, describing his as a severe case of the disease. “Of course, he was feeling anxious. He wasn’t feeling good,” Heather recalls Dr. Webster telling the couple following CJ’s diagnosis, assuring them their son would be fine once he eliminated gluten from his diet.
Growing up, CJ was always a picky eater and he never enjoyed eating out at restaurants. Looking back, it made sense to Heather that the reason CJ felt his best earlier in the day was because his morning bowl of Cheerios contained no gluten.
Because there’s a genetic predisposition to celiac disease, and because many who have it may not display symptoms, clinicians at CHOP encouraged CJ’s parents and siblings to undergo testing. Bella and Max went to CHOP for blood tests, while mom and dad went to a lab referred by their primary physician. As a result, Christopher’s hidden symptoms for gluten intolerance were revealed. And Bella, who also tested positive but has been asymptomatic, understands that her diet choices now can affect her future health.
“Being diagnosed in my 40s, I guess I was the most surprised,” recalls Christopher. Except for high cholesterol and a vitamin D deficiency, both of which were already being monitored by his doctor, Christopher considered himself generally healthy. As he became more educated about celiac disease, though, he began to recognize signs of gluten sensitivity from his youth, including some stomach problems of his own. At one point as a preteen he was misdiagnosed as lactose intolerant.
“I stopped drinking milk, and after a while, when I felt better, I started drinking it again. I just figured I grew out it,” he says. And during his college years, whenever he experienced bloating after meals, he attributed it to a diet of pizza and beer.
“Without CHOP, I may never have reached this conclusion,” a grateful Christopher says of his celiac diagnosis and his family’s road to recovery.
Transitioning to a gluten-free diet was challenging at first, says Heather, and there was concern early on that it might add to CJ’s anxiety. But it didn’t take long before choosing meals became a family affair. Most Sundays, you’ll find Christopher in the kitchen, preparing their meals for the week, careful to avoid any cross-contamination.
“To have three out of five family members with celiac disease is rare,” says Heather, “but it’s easier for the cook, and it’s easier for the kids to get excited about food now.” Christopher admits he sometimes misses his cheesesteaks and pizza, and Bella misses her pretzels, but they are all discovering tasty new treats, like mom’s homemade muffins and cookies.
“Being gluten-free is great,” says CJ, noting that it took about of month for him to recognize a change. He continues:
“I felt like a new me. CHOP has taught me how to be gluten-free, and now I understand how important it is for growth, both mentally and physically. The doctors are encouraging and make you feel better about your new lifestyle..”
Like her dad and brother, Bella is also grateful to CHOP Center for Celiac Disease. She says:
“CHOP really helped me to understand how important it was for my body and overall health to be gluten-free.”
Heather wants others to know it’s OK to feel uneasy following a celiac disease diagnosis. “It’s a positive because it’s a problem than can be healed with food,” she explains, noting that her family takes vitamins but no medications. The improvements she saw in Christopher and CJ after eliminating gluten were almost immediate.
CJ’s anxieties all but disappeared, and in a year, he grew 3 inches and gained 20 pounds. As for Christopher, his energy level continues to surge. “I didn’t know how good I could feel,” says Christopher. “I can’t help but wonder what it would be like if I had been tested 20 years ago.”
Heather and Christopher's youngest child, Max, will continue to be tested for celiac disease until he is 18.
“We are confident our kids are at the best place possible,” Heather says of the team at CHOP. “They give us information, but don’t make it scary for the kids.”
Adds Christopher, “They’ve been helpful for me, too.”