Searching for Answers: Celiac and Gluten Sensitivities
Celiac, or gluten-sensitive? Here's what you should know about genetic testing.
[Updated May 20, 2015]
When teachers noticed 10-year-old Abby was spending more time in the bathroom than at her desk, they knew she wasn’t just trying to skip class. Abby had always loved learning and was highly motivated. Plus, it wasn’t just school she was missing.
“Abby loves sports but she was ducking out of soccer, lacrosse and basketball games because of stomach cramps,” recalls Abby’s mom, Donna Williamson* of Baltimore, Maryland. “If she made it through a game, she rushed to the port-a-potty afterward.” Abby’s increasingly frequent bouts of diarrhea were embarrassing and her painful stomach cramps and bloating interfered with her active lifestyle.
With food allergies in the family, Williamson suspected that something Abby was eating was to blame. She took her daughter to the family doctor who tested her for more than 60 potential food allergens.
“The only thing that came back positive was gluten," Williamson says. "It was off the charts."
Abby immediately immersed herself in the gluten-free diet. “She learned the diet backward and forward,” her mother says. But months later, when strict adherence to the diet hadn’t totally eliminated Abby’s uncomfortable symptoms, Williamson took the girl to a series of specialists, including two pediatric gastroenterologists.
Examining Abby closely and going through her medical history, the doctors considered various illnesses but ultimately focused on acid reflux and celiac disease. An endoscopy showed mild reflux but no evidence of celiac, possibly because Abby had been eating gluten free for months, including during the period when the procedure was conducted. She was prescribed reflux medication.
“Abby dutifully took the medicine but she didn’t think it was helping,” Williamson says. “Eventually she asked me if she could stop both the medication and the gluten-free diet to see if things might clear up all on their own.”
But things didn’t improve. In fact, Abby’s symptoms worsened. She was having an even harder time making it through sports practices and games without bathroom episodes and it was becoming even more challenging to focus at school.
“Abby became depressed and didn’t seem like herself. She wasn’t enjoying herself and never seemed to be smiling any more. She was typically such a bubbly girl and it really upset us to see her suffering and withdrawing,” says Williamson.
Although Abby was scared to undergo more medical tests, she felt so sick that she agreed to a second round of testing for celiac disease, including a repeat endoscopy.
“This time, the blood tests for celiac were positive so we expected the endoscopy to confirm that she had the disease,” Williamson says. But surprisingly, the second endoscopy showed no signs of celiac. Results were completely normal.
“The doctors called her a ‘diagnostic dilemma,’” Williamson recalls. “From her symptoms and blood tests, there was every reason to suspect she had celiac disease—but the biopsy didn’t confirm it. The doctors had told us the biopsy is the gold standard for celiac diagnosis. We were so frustrated. We didn’t know where to go from there.”
As Abby’s physicians discussed performing other more invasive tests, they also mentioned there was a genetic test for celiac disease. “They explained it was a different approach,” says Williamson. “It couldn’t diagnose celiac disease, but there was a chance it could tell us once and for all if she did not have it. We wanted to know so we said, ‘Okay, let’s try it.’”
Next: Ruling It Out