When their 18-month-old daughter, Sarah, had frequent diarrhea, John and Robin McLafferty assumed it was a stomach bug. But after several visits to their pediatrician, an infection was ruled out, and the McLaffertys were referred to Children's Hospital Boston.
At Children's, Samuel Nurko, MD, MPH, director of the Center for Motility and Functional Gastrointestinal Disorders, diagnosed Sarah with celiac disease, an inherited disorder that results in damage to the small intestine.
In people with celiac disease, gluten, a protein that's found in grains such as wheat, rye and barley, is toxic. If ingested, the gluten damages the lining of the small intestine and interferes with the absorption of nutrients. Left untreated, the damage may increase a person's risk of developing certain kinds of cancer and/or other autoimmune diseases.
The exact sequence of events leading to celiac disease is still unknown, although it is known that people with celiac inherit a gene, or genes, from their parents that make them susceptible to the disorder. Recent studies show that celiac disease is much more common than previously thought, with an estimated one in 133 individuals in the United States affected by the disease.
According to Alan Leichtner, MD, associate chief of the Division of Gastroenterology and Nutrition, and director of the Celiac Disease Program at Children's, celiac disease can be difficult to diagnose because patients may not have the expected gastrointestinal symptoms. "Diarrhea, abdominal pain and weight loss may not be present," he says. "Pediatricians should be aware that atypical symptoms are more common, including anemia, poor growth, osteoporosis, joint pain, an itchy rash and behavioral problems."
At Children's, the first step in diagnosing the disease is the use of specific antibody blood tests (see call-out below). Individuals who test positive then undergo an intestinal biopsy to confirm the diagnosis.
The only treatment for celiac disease is strict adherence to a gluten-free diet for life. For the McLaffertys, keeping Sarah gluten-free seemed like an overwhelming task. But help was immediately available through Children's Celiac Disease Program and Support Group, which offer detailed information about celiac disease and its management.
Adapting to a gluten-free diet required many lifestyle changes for the McLaffertys. Sarah could no longer eat regular bread, cereal, pasta or other foods containing wheat, rye, barley and oats. Robin says she and her husband read food labels very closely and have learned how to identify ingredients that may contain hidden gluten.
If celiac disease is suspected,
pediatricians should request the following blood tests:
IgA tissue transglutaminase antibody
Total serum IgA (in case patient is IgA0-deficient)
"When you first find out what it is, you wonder how you're going to feed your child," said Robin. "But we met with a nutritionist and got involved with the support group. Talking with other families really helped."
Since being diagnosed in 1999, Sarah has only ingested gluten twice. Both times she became sick for several hours. "[After those experiences] she doesn't want gluten because she knows what it does to her," says Robin.
Luckily gluten-free products are becoming more common. The McLaffertys are able to buy special flour, breads, pasta, spices, even ice cream cones. Regular food like fresh fruits and vegetables, fish, meat, poultry, eggs, milk and butter are also acceptable for a gluten-free diet.
The Celiac Support Group, which meets four times a year and boasts 340 members, is a great resource for Sarah and other patients who need to remain gluten-free. Families exchange recipes, cooking tips and parenting strategies, which is especially helpful for new members.
"As a member of the support group, I contact parents and help them get over that first hurdle," says Robin. "Usually there's somebody who lives in their area who can tell them the best places to shop for food, how the school system is to deal with, things like that."
Guidance and support are also provided by the Celiac Disease Program's dietitian, Catherine DiSanto, RD, LD, and nurse Katie Tawakol, RN, both of whom specialize in the care and treatment of celiac disease.
Now 7 years old, Sarah is leading a happy, healthy gluten-free life although, like any child, she occasionally complains of a stomach ache. "That's one of the challenges," says Robin. "Sometimes you don't know if it's just a stomach bug or if she ate something she's not supposed to."
Celiac disease can be confusing for doctors as well. When diagnosing the disease, Dr. Leichtner says that although the blood tests are quite accurate, there are individuals with celiac disease who have negative tests and individuals without it who have positive tests. He says that if a pediatrician has a patient with a positive serology or if celiac disease is suspected, it is best to have a specialist evaluate the child before starting a gluten-free diet.