Celiac Disease and Down syndrome

In the past 18 months Helen has been diagnosed with two medical conditions: hypothyroidism and Celiac Disease. The detection and treatment of those conditions has greatly improved her quality of life and affected her size and clothing fit. Last week I wrote about hypothyroidism. Today I’ll write about Celiac Disease.

Celiac Disease (CD) is a digestive disorder. People with CD have intolerance to gluten that causes damage to the small intestine and, thereby, decreases the body’s absorption of nutrients. Gluten is a protein found in wheat, barley, rye and, possibly, oats. In people with CD, the small intestine experiences an allergic reaction to gluten. The small intestine becomes inflamed and incapable of absorbing the nutrients in the food consumed. So rather than being absorbed by the body, those nutrients are eliminated from the body in the stool.

The malabsorption caused by Celiac Disease can result in other illnesses and is particularly serious in children in whom malnutrition stunts growth and development. Some patients can experience difficult symptoms that significantly decrease the quality of life; others exhibit no symptoms whatsoever. Because there are no “typical symptoms” and many of the symptoms that do manifest mimic other gastrointestinal disorders, CD is often undiagnosed or misdiagnosed.

According to one study, the incidence of Celiac Disease in children with Down syndrome is 10%. The study further concluded that the prevalence of CD in children with Down syndrome is 25 times that of the general population. The numbers are difficult to assess, however, given the potential for misdiagnosis or lack of diagnosis altogether. The rate of CD in the U.S. has been reported to range from 1:250 to 1:1,500. More recently, the prevalence has been widely published as 1 in 133 people.

No matter what the overall numbers are, the number one – your one child – is the one that matters most. So, is it possible that your child is that one in 10 that has Celiac Disease? While there are no typical set of symptoms, some possible indications of CD include:
- Weight loss
- Diarrhea
- Stomach cramps, gas and bloating
- General weakness
- Foul-smelling or grayish stools that may be fatty or oily
- Stunted growth in children

Diagnosis of Celiac Disease begins with a screening test that requires a blood draw. The blood is evaluated for high levels of specific antibodies that indicate possible CD. If levels are elevated, a small sample of the small intestine is taken endoscopically and then microscopically examined for damage. Small intestine damage, specifically the destruction of villi, confirms CD.

No treatment can cure Celiac Disease. However, the symptoms can be eliminated by removing gluten from the diet – forever. Wheat, rye, and barley all contain gluten. Oats are an unresolved question. It appears that oats themselves may be safe to consume. However, oats can be contaminated with gluten if processed with the same equipment that has processed wheat, rye or barley. Most doctors recommend removal of oats from the diet. Helen's doctor has advised Susie to withhold oats for one year. After that point, she can reintroduce oats into Helen's diet and observe Helen's response. If her old CD symptoms do reappear, she will eliminate oats permanently. If not, oats consumption can continue.

The sensitivity to gluten exposure varies among patients. Some can tolerate occasional gluten exposure. Others have extreme reactions to a mere crumb. So, it’s important to be cognizant of surprising sources of gluten and the possibilities of cross contamination. Gluten is used in most sauces, stabilizers, flavorings, fillers and emulsifiers. And those are commonly used in other prepared foods such as salad dressings, sauces, beverages, seasonings. Helen became sick again once when Susie let her eat sausage. She didn’t realize that sausage has gluten-containing filler. Meatballs once caught her by surprise too: breadcrumbs. She had to explain cross contamination to a fast food employee that thought she could just remove the bun from Helen’s cheeseburger when they hadn’t filled her order correctly. It's an education for many of us.

Helen was diagnosed with CD in November of 2006. Her stomach cramps ended as soon as the gluten-free diet began. Within weeks her stools were back to normal and she’s less irritable. She understands that she can’t eat some of the things that the other kids eat. Susie tells her when something she wants will make her tummy hurt and she usually accepts that. Kids being kids, there’s occasional surreptitious consumption now and then. The change in Helen over the past 18 months, thanks to treatment for hypothyroidism and Celiac Disease, has been remarkable. She seems, to me, to be happier and more energetic and there’s just a lightness about her that’s a joy to behold.


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