Searching for Answers: Celiac and Gluten Sensitivities
Your Genes, Please
For her genetic test, Abby gave a small sample of blood, drawn at a nearby lab, “It was really easy. They just took one tube of blood. No special preparations were necessary,” Williamson says.
Newer tests offer in-home convenience without the needle. Genetic material can now be extracted from cheek cells or saliva.
“A new test examines samples obtained by wiping the inside of the cheek several times with what looks like a mascara wand,” explains Shilson. “It’s done at home and mailed to the lab in the kit provided to you.”
Just as easy, a saliva test requires that patients spit into a small tube and then drop it in the mail.
“While its best to do genetic testing through your doctor, if your physician isn’t supportive and you’ve hit a wall, it’s possible to order the kits directly from the laboratories,” says Shilson. Labs provide results to the patient or the doctor, or both. An advantage of going through your doctor is that he or she can help interpret the results. However, Shilson adds, the labs have excellent genetic counselors on call.
Though newer tests may be more convenient, many patients like Abby use whatever sampling method is covered by their insurance. In many cases, an insurance company will stipulate a blood panel, not because it’s more accurate but because the company is behind on changing technology.
“The methods covered by insurance don’t necessarily speak to the accuracy of the newer tests,” Shilson says.
After Abby’s blood was drawn, the sample was shipped overnight to a lab to begin the complex genetic analysis. Some genetic tests are turned around in just a day or two. The lab that Abby used took a bit longer. The results? She was positive for the celiac gene.
For Williamson and Abby, who had hoped the test would conclusively rule out celiac disease, the results were disappointing. But as Williamson acknowledges, “That’s the reality of the test. I’m glad we did it because if not, we would have wondered.” The test provided another useful data point and, “For us, it was part of the journey to get Abby well,” Williamson says.
After learning the test results, Abby resumed the gluten-free diet. Although the positive read didn’t mean the diet was necessary for her, it seemed prudent to give it a second try. In addition, she cut out soy and dairy at the suggestion of her gastroenterologist.
Eliminating dairy made a huge difference. “It may be the reason why Abby didn’t feel 100 percent better the first time she went gluten free,” Williamson speculates. “We still don’t have a formal diagnosis. As best as we can tell, she is sensitive to gluten, dairy and soy.”
Now 13, Abby has no complaints when it comes to her health. She is happily back on the soccer field—without the frequent bathroom breaks. Co-captain of the team, she recently received the female athlete of the year award at her middle school.
She’s also becoming quite accomplished in the kitchen, learning to bake gluten, dairy and soy free.
“Recently, we spent the whole morning together making blueberry muffins, oatmeal cookies and bread. It was a lot of fun,” Williamson says. “Eating used to cause Abby so much pain. It’s wonderful to see her finding joy in food again.”
Christine Boyd is a freelance writer who lives in Baltimore.