For children, this may mean a gene test involving a simple cheek swab that pinpoints who is and is not at risk; then, for those who are predisposed to develop the condition, a blood test once every two years or so from 2 years of age onwards.
Adult relatives should be told of the diagnosis and encouraged to get tested, especially if they have one or more of the symptoms associated with celiac disease, Leffler says. If they continue to feel sick despite a negative test result, they should keep getting tested because celiac blood panels, although good, aren’t 100 percent infallible, he continues.
“The numbers of people with celiac disease are growing. Statistics show that an estimated one in 133 people in general have celiac disease right now and the vast majority of them are undiagnosed,” he says. “That’s why it’s imperative we get this message out.”
Before Emma, their oldest child, got sick, Rory and Bruce knew next to nothing about celiac disease. What they knew was that their daughter, not quite 2 years old at the time, was very ill and they were desperate for a solution. Emma had been vomiting every day for six months, she had continuous diarrhea, her stomach was distended from malnutrition, and her little muscles had begun to atrophy. The child was put on a feeding tube; her parents were frantic.
Then a blood test showed that Emma had the antibodies associated with celiac disease and an intestinal biopsy confirmed it. But knowing what they were dealing with didn’t make it any easier at first.
“I was devastated,” Rory admits. “I was younger and a little naive and I thought: ‘Why us?’” She had already grieved a stillbirth before Emma was born, and now her daughter had this disease. “None of us should get sick like this, not having been through what we had,” Rory recalls thinking. “It wasn’t fair.”
Cooking, baking and becoming fluent in the language of product labels were also challenges. Until Emma’s diagnosis, Rory’s talents in the kitchen were limited at best. She threw herself into it by reading specialty cookbooks and attending lectures and taste-testing products. Not one to do things by halves, for birthdays, she would bake not one but two cakes from scratch: one regular and one gluten-free. The payoff was that Emma was thriving.
Along the way, Rory learned that everyone in Emma’s immediate family – and preferably her extended one – should get tested.
“Could I have it?” Rory wondered then. “Could that be why I had a stillbirth? And the reason for my protein deficiency, my bloating, migraines and clotting disorder? Could it be why I’m not getting my period? Could I have passed this on to my daughter?”
But Rory’s celiac blood panel proved negative. Instead, Bruce, a Manhattan building and advertising executive, was diagnosed first. “I thought we found the culprit,” Rory says. “I told Bruce, ‘it’s your side of the family.’ But my symptoms continued, so I kept getting tested. Finally, in 2004, I tested positive, too.”
With their combined genetic profiles, they understood there was an extraordinarily high probability their children would have celiac disease, too. So far, Jack, who was a year old when his big sister was diagnosed, has been clear every time, although his doctor recently placed the 14-year-old on a growth hormone.
Oliver, 8, and little Sophie have both had positive blood tests and cheek swabs, and their parents have opted to eliminate gluten from their diets without putting them through the intestinal biopsy.
Next: A celiac family vacation