Celiac Disease: Nora, Alex, Jack and Kate's Story

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When Nora went to the doctor with an apparent stomach bug, the last thing her parents expected was to find out that she — and her three well-seeming siblings — had a chronic disease. Thanks to the expertise of the team at Children’s Hospital of Philadelphia, today all four kids are managing their conditions and learning to make healthy choices for their futures.

Four celiac and gluten sensitive patients sitting together smiling As mother to four active kids — Kate, 18; Jack, 16; and identical twins Nora and Alex, 10 — Darcy is used to handling minor medical issues. So she wasn't initially too alarmed when Nora started to look pale and sleep more on the weekends. “She had occasional stomach aches, but no fever or other symptoms. I thought she was fighting off a virus and needed rest,” says Darcy.

As time passed, Nora’s fatigue continued. Darcy took her to their pediatrician who also believed Nora had a virus that just needed to run its course. It didn’t.

One day, the school nurse told Darcy she was worried about how long Nora had been feeling sick. “I felt like something was wrong, too,” Darcy says. She called Nora’s pediatrician and asked for more comprehensive testing: “I didn’t want to have to keep looking for answers.”

Two days later, the results came in: Nora had a significantly abnormal celiac blood screening panel, suggesting an abnormal immune response to gluten. The pediatrician suspected celiac disease and suggested they find a GI specialist.

Answers and hope

When the family learned of the Center for Celiac Disease at Children’s Hospital of Philadelphia (CHOP), they knew they had found the right place. A national leader in both patient care and research into celiac disease, the Center provides not only expert diagnostic testing, but develops a personalized care plan for each patient – essential because the disease affects individuals differently.

Nora was placed under the care of Lisa Fahey, MD, the clinical director and an attending gastroenterologist at the Center. While she had already had blood tests, the initial screening for celiac disease, specialists at CHOP typically also order an upper gastrointestinal (GI) endoscopy to confirm the diagnosis. Genetic testing can also provide valuable information for clinicians and families.

“A lot of people don’t realize celiac is more than an upset stomach,” Darcy says. “It’s so important to get an accurate diagnosis.” The side effects of untreated celiac disease can be wide-ranging including poor growth, osteoporosis, GI issues, other autoimmune diseases and certain cancers.

Nora, with a presumed celiac diagnosis, was then referred to one of the team’s dietitians, Kara Feigenbaum, RD, for help as she learned to adapt to a gluten-free diet – the treatment for celiac disease. Education is a key component to Celiac Center’s care. All newly diagnosed patients and their family members participate in comprehensive learning sessions with a dedicated dietitian and celiac nurse educator that cover maintaining a gluten-free diet, as well as advice for food shopping, eating out and more. The support doesn’t end there – nutritional counseling is readily available at every stage throughout a child’s medical journey.

Looking beyond Nora

When Nora came to CHOP, Dr. Fahey told her parents that first-degree relatives of patients with celiac disease have a 10% chance of also having the disease, whether they show symptoms or not. The Center strongly recommends testing for immediate family members.

Darcy and her husband decided to have their other three children tested – and the results were eye-opening. Nora’s twin, Alex, had no symptoms, but blood tests revealed that she, too, likely has celiac disease.

Eighteen-year-old Kate had always had stomach issues, so her parents were sure she would test positive. Surprisingly, she did not; however, the celiac team was able to diagnose a related throat disorder.

Meanwhile, Jack, 16, was symptom-free and enjoyed a gluten-heavy diet. Nonetheless, his tests showed that Jack indeed has celiac disease. “Dr. Fahey said he might not show symptoms for years,” Darcy explains.  “But if he doesn’t make healthy choices now, by then he could experience severe effects.”

Support at every stage

Learning to accept and then manage the kids’ conditions was a challenge for the entire family. For Jack, a six-foot-tall teenager accustomed to eating whatever he wanted, it was especially difficult to give up his favorite foods, since he had never felt ill. “Transition to a gluten-free diet can be challenging and stressful for many patients and their families,” says Dr. Fahey. “Our Center offers comprehensive care to support them, including GI psychology support.”

As the family continues its medical journey, they take comfort in knowing that the Celiac Center team will be there for them every step of the way.

“We’ve got four kids with GI issues, and some days it’s difficult to keep track of all that needs to happen,” Darcy says.

Dr. Fahey always answers my questions quickly even though they aren’t emergencies. And she clearly lays everything out one step at a time, so I don’t get overwhelmed with information.

The family has learned that successfully dealing with celiac disease is all about adapting – something their CHOP care team knows well. As Darcy says: “When we need to adjust, they adjust with us.”

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