FeaturesDec/Jan 2010 Issue

Searching for Answers - Celiac and Gluten Sensitivities

Celiac or gluten sensitive? What you should know about genetic testing

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. It was off the charts,” Williamson says.

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

Comments (8)

I also went on a gluten free diet after reading what I could find, about Gluten Sensitivities because the way I was feeling. I didn't refer to a doctor concerning my symptoms. I didn't think that I would be helped. I really think that I need to be tested. I was wondering if you would have any advice on labs that do home test.

Posted by: mjm58 | November 5, 2014 2:15 PM    Report this comment

There are some pretty good paleo bread recipes out there, using coconut flour and almond flour and eggs, mostly. Paleo is definitely gluten free and touted by some to be the healthiest diet, as no grains at all, unless you want occasional rice, quinoa or oatmeal.

Posted by: Violet | November 4, 2014 10:31 AM    Report this comment

I haven't been diagnosed with Celiac, but was put on an elimination diet in the spring and during the reintroduction phase discovered that gluten, soy, and dairy (along with a corn and barley allergy from childhood) are no-no's! I am a senior and find this a very difficult time in my life, but am learning how to manage eating pretty much a Paleo diet. I find bread making has become somewhat of a chore now as I've always made my own. Now, not using gluten flours turns out to produce "bricks" for loaves. I now I have so many Gluten Free cookbooks, but they all use dairy (which I have learned to substitute other types of milk), but cheese is another story completely! I guess I'm just ranting, but I will learn how to manage. Thank you for this article.

Posted by: Lougagne47 | November 4, 2014 9:44 AM    Report this comment

Can you give me more information on the names of labs for home testing kits

Posted by: kmuirhead | November 4, 2014 9:06 AM    Report this comment

We can choose to submit to expensive and sometimes inconclusive lab tests, or we can decide to let our own unique bodies be our guide. We now know what foods most frequently cause allergies, so we can try an elimination/reintroduction diet while keeping a food diary, including careful observation of symptoms and how we feel, and keeping in mind that some reactions can be delayed by as much as 72 hours, In any case, it is imperative that we always address healing our gut as part of the process of feeling better. As food allergy awareness grows, the community of people with multiple allergies also grows, and we become targets for new tests, procedures, and medications introduced by both well-meaning and profit-seeking companies. Good common sense, and sharing of ideas can be the best remedy for us all. Thank you, Living Without, for providing us with a forum for sharing.

Posted by: Sharon E | November 14, 2012 11:16 AM    Report this comment

Everyone likes the hard diagnosis but the better question is not whether a person has celiac disease or not but can they benefit from a gluten free diet (GFD). The treatment is the same whether a person has celiac or non-celiac gluten sensitivity. I have read a couple of studies that found that light microscope analysis in a biopsy missed most of the gluten related damage. Scanning electron microscope techniques were about 5 times better at detecting that damage. Therefore many negative biopsies really aren't negative at all, just not detected due to using a method that is too crude to pick it up. So I would say intestinal biopsy is the gold standard of celiac diagnosis if using an SEM. Before you ask your doctor about that, you aren't likely to find someone willing to go that route unless you are dealing with a research center that happens to be working on that question.

So back to the original comment, a person just has to know whether the probability is high that a gluten free diet will be beneficial regardless of the accuracy of the diagnosis. In my practice we have had great success with people who were never tested but understand the relationship between their symptoms, that is autoimmune disorders etc. and gluten. Others need to see something in black and white in their hands before they will make the jump to the GFD.

The comment about concurrent dairy and soy allergies is important. Most people are not just gluten sensitive but are sensitive to a variety of other common foods too. As well as antibody and genetic testing for gluten related issues, we also routinely run tests with Cyrex Labs and Alcat for cross reactive foods, that is foods that people on a gluten free diet tend to eat that the body may also react to like various components of diary, other grains and even non-related foods like quinoa and buckwheat. Like I told a good friend who was suffering from a couple of autoimmune conditions that I was certain his problem was related to gluten and also certain that other factors were involved too. We are waiting for the Alcat testing to see what else is contributing to his misery.

We use Enterolab for our genetic testing. They have been doing this for years and understand very well the clinical significance of the results. Price is not $500 but $150 and is a simple, CSI-type check swap. Daniel Schlenger, DC

Posted by: Daniel S | November 14, 2012 11:08 AM    Report this comment

I have been diagnosed with celiac for about 5 years now. Just the past few months I have felt bad every time I eat. I am afraid the new GF pizza place was not careful about cross contamination. I read that if the intestines are damaged (say eating gluten) then lactase can not be released to digest lactose. So often until the intestines are fully healed dairy is an issue because of a missing element of digestion as opposed to a dairy allergy. I am hoping to be able to add dairy back at some point, but am older and need longer to heal. Anyone heard of research on this? I'd love to learn more and/or verify this information.

Posted by: Katlyn S | November 13, 2012 9:35 PM    Report this comment

I could just insert my son's name into this story and it would be his. He is 10 years old and we've gone down the same exact path this year and literally visited the GI for results of his genetic testing yesterday. Same results - same story. Our GI did put him on a low fructose diet and we have found that to be helpful as well. We stay away from most packaged goods since most are highly processed and loaded with sugar - especially GF goods. Frustrating not to know exactly if he has celiac disease, but this path had made us highly aware of the foods that do harm our son's health and how we could improve our own eating habits and health from the foods we choose to put into our bodies.

Posted by: Natalie M | November 13, 2012 1:14 PM    Report this comment

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