Kids taking on celiac disease

Published: May. 3, 2019 at 6:26 PM EDT
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May is Celiac Disease Awareness Month. Celiac disease is among the most common autoimmune disorders, and still, Seattle Children's Hospital estimates that for every diagnosis, eight cases aren't noticed.

Because of that, the hospital has put together a unique celiac outreach and mentor program mostly run by children, for children.

Elle Penarczyk was diagnosed with celiac disease when she was 6.

"I just get really bad diarrhea and stomach issues," she said.

Her parents got a crash course in gluten-free food.

"I really do think she instantly felt better," said Tammy Penarczyk, Elle's Mom. "We could see she had color in her cheeks."

Now, Elle has her own gluten-free area.

They've all learned a lot from Dr. Dale Lee, who directs Seattle Children's Hospital's celiac program.

"Our goal is for our patients to be out there, doing the things that they like, spending time with their friends and family and doing things at restaurants, going on class trips," Lee said. "But it requires some education and planning ahead of time."

Now, 11 patients are on the front line as the Celiac Youth Leadership Council, or CYLC. They're running a gluten-free food drive for a food bank right now.

"These are students who have now helped to organize the support groups, serve as mentors to other kids in the support group, and we've also decided that we would love to elevate the knowledge and the awareness of celiac disease in the community," Lee said.

"I really like going to talk to them and tell them what it's like to have celiac disease and how they can overcome it and what are some good gluten-free foods to eat," Elle said.

Her mom is glad Elle is making a difference and helping others.

CYLC members' goal is to educate and support patients, families and the community.

They are currently running a citywide cross-contamination experiment. They're now testing gluten-free products sold in regular bakeries and pizzerias to see if they're affected by flour in the air.



REPORT #2636

BACKGROUND: Until recently, celiac disease was thought to be rare in the United States. However, recent findings estimate about 2 million people in the United States have celiac disease, or about 1 in 133 people. Among people who have a first-degree relative diagnosed with celiac disease, as many as 1 in 22 people may have the disease. About 3 to 8 percent of people with type 1 diabetes will have biopsy-confirmed celiac disease, and 5 to 10 percent of people with Down syndrome will be diagnosed with celiac disease. Celiac disease could be underdiagnosed in the United States for a number of reasons, including: symptoms can be attributed to other problems, many doctors are not knowledgeable about the disease, and there's only a small number of U.S. laboratories experienced and skilled in testing for the disease. More research is needed to learn the true prevalence of celiac disease among Americans. (Source:

SYMPTOMS AND DIAGNOSIS: Symptoms of celiac disease vary from person to person and some experience no symptoms at all. The most common symptoms children and adults may experience are: abdominal pain, diarrhea, constipation, weight loss, nausea, and fatigue. Infants and young children with celiac disease are more likely to have digestive symptoms but can also suffer from: irritability, stunted growth, delayed puberty, and dental enamel defects of the permanent teeth. Adults are also susceptible to digestive symptoms, but more commonly suffer from: unexplained iron-deficiency anemia, fatigue, bone or joint pain, arthritis, bone loss or osteoporosis, depression or anxiety, tingling numbness in hands and feet, seizures, canker sores inside the mouth, or dermatitis herpetiformis (an itchy skin rash). Researchers think as few as 20% of people with the disease ever get a proper diagnosis. The damage to the intestine is very slow, and symptoms are so varied, that it can be years before someone gets a diagnosis. Doctors use two blood tests to help determine whether you have celiac disease: serology tests that look for certain antibodies and genetic testing to look for human leukocyte antigens to rule out celiac disease. (Source: and

AN 'OFF SWITCH' FOR CELIAC DISEASE: New research published in the Journal of Biological Chemistry identifies an enzyme that turns off TG2, potentially paving the way for new treatments for celiac disease. Chaitan Khosla, the professor at Stanford and director of Stanford Chemistry, has conducted several studies showing that TG2 can be active or inactive, depending on the forming or breaking of a specific chemical bond, called a disulfide bond, between two amino acids in the enzyme. Khosla said, "When it became clear that even though the protein was abundant, its activity was nonexistent in a healthy organ, the question became 'What turns the protein on, and then what turns the protein off?'" In 2011, Khosla's team identified the enzyme that activates TG2 by breaking its disulfide bond. In the new paper, researchers performed experiments in cell cultures and found an enzyme that re-forms this bond, inactivating TG2. This enzyme, ERp57, is mainly known for helping fold proteins inside the cell. When it turns off TG2, it does so outside of cells, raising more questions about its functions in healthy people. Understanding this mechanism has led the team to investigate whether there are any FDA-approved drugs that could target the switch directly. Because previous studies have suggested that lack of TG2 doesn't seem to negatively affect the health of mice, blocking TG2 is a promising avenue for treating celiac disease patients without requiring lifelong changes to their diets. (Source: