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Your DNA Results Indicate: Super Celiac! By Scott Adams

This article originally appeared in the Summer 2004 edition of Celiac.coms Scott-Free Newsletter.

Celiac.com 10/27/2004 - I recently decided to have my DNA and that of my son screened for the genetic markers, also known as HLA alleles, which make celiac disease possible. Both my mother and I have long since been diagnosed with the disease, so I naturally worry that my son Spencer may also end up with it at some point in his life. Even though he has been mostly symptom-free for his entire life—all three and a half years of it—last year I subjected him to serological screening after he had a several week bout with diarrhea. We were happy to discover that he did not have it, but I still knew that such tests could not rule the disease out of his future. Even so, it was nice to learn that he did not have the active disease, although a blood draw at two years of age was not exactly a pleasant experience for him—or for his parents! I swore then that I would try to avoid any unnecessary blood draws in the future, even though I knew that it might still be necessary from time to time—unless he somehow did not inherit the genetic markers for it—the idea of which led me to my decision to have Spencers DNA screened for celiac disease.

After mentioning my plans for the DNA screening at a family dinner, my brother also grew interested, as he too has had unexplained symptoms and a recent negative celiac disease antibody panel and biopsy. He too felt that it would be nice to find out once and for all if this was something that he was going to have to worry about in the future. He also pointed out to me that genetic screening had the potential to save him money over the long haul, since the test is only necessary once in a lifetime. Periodic antibody screening for the disease can prove to be quite expensive, and a negative DNA test would effectively rule out the necessity of any future testing. After we finished our dinner that evening I sat down with my brother and we reviewed several offerings on the Internet by companies who provide genetic services for celiac disease, and were particularly impressed by one of them—Kimball Genetics, located in Denver, Colorado, as their DNA collection method did not require a blood draw and instead employed a simple and painless cheek cell collection using a swab.

The next day I telephoned Kimball Genetics and was connected with a very knowledgeable genetic counselor. After a discussion with her about my familys history I decided to order three celiac disease genetic tests, one each for my son, my brother, and myself. I requested three cheek cell collection kits to be sent to my home, where the samples would be collected and sent back to Kimball Genetics for testing. For individuals the cost of a kit is 10% off of $325, or $292.50 per test, and they offer a 20% family discount for testing additional family members, which brings the per test price down to $260. Kimball Genetics also offers assistance with billing your health insurance company, which can often result in the recovery of all or part of the costs incurred for the tests. This includes detailed help with the forms, insurance CPT codes for the procedure, as well as obtaining the ICD9 codes, which are the diagnostic and symptom codes that come from your doctor. At this point I realized that to get reimbursed for the tests a person should first make an appointment with their doctor, and ideally this appointment should take place before actually ordering a test kit. This will ensure that you and your doctor are on the same page regarding the importance and necessity of the genetic tests.

The cheek cell collection kits arrived in the mail within a couple of days, and I phoned my brother to arrange a "DNA collection party" at my house. On collection day we opened the kits to find enclosed two brushes for sample collection, a Test Request Form, a consent form, medical literature regarding Kimball Genetics DNA screening test for celiac disease, and detailed instructions that outlined how to properly collect and mail the samples. The kits also included a stamped return envelope that was pre-addressed to their laboratory. The Test Request Form included an area where one could enter their credit card information, and this form along with the consent form and a check or card information were required to be sent along with the sample in the return envelope.

The medical literature included with the kits comprised of a three page document titled "Celiac Disease DNA Test." The following two sections, which I found to be particularly helpful, are reproduced below from this document, which is also available on their Web site www.kimballgenetics.com:

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Indications for Celiac Disease DNA Testing:

  • Clinical diagnosis of celiac disease.
  • Negative or equivocal antibody results (antiendomysial, tissue transglutaminase, or antigliadin) or intestinal biopsy results in an individual with symptoms of celiac disease.
  • Relatives of individuals with celiac disease.
  • Individuals with iron-deficient anemia.
  • Individuals with dermatitis herpetiformis.
  • Adults with diarrhea, abdominal pain and distention, recurrent aphthous stomatitis (canker sores), osteoporosis, infertility, multiple miscarriages, anxiety, and/or depression.
  • Children with abdominal pain, diarrhea, abdominal distention, failure to thrive, short stature, delayed puberty, irritability, attention-deficit disorder and/or poor school performance.
  • Children with Type I diabetes.

Our Celiac Disease DNA Test Service Provides:

  • PCR analysis for DQ2 alleles (DQA1*0501, DQA1*0505, and DQB1*0201/*0202) and DQ8 allele (DQB1*0302).
  • Detailed reports with genetic interpretation, recommendations, and education.
  • Free genetic counseling for physicians, patients, and families.
  • Free shipping.

The sample collection went very smoothly for each of us, and Spencer found it to be slightly more annoying than having to brush his teeth. We each rinsed our mouths out with water beforehand, and then rolled one brush at a time 20 times over the entire inside surface area of one check, and then did the same on the other cheek with the second brush. We let the samples dry for 30 minutes, and then put everything in their respective packages and envelopes along with the filled out paper work. Our final step was to put them out for the Mail Carrier to pick up. Their literature promised a 3-4 day turn around, and sure enough, both my brother and I got a call from someone at Kimball Genetics several days later who needed our doctors fax numbers, which we had forgotten to include on the paperwork. Once they had this information, a call to our doctors was all that was necessary to have our doctors forward the results directly to us by fax, and we also received the original reports by mail. Amazingly the Celiac Disease DNA Test at Kimball Genetics takes just one business day from the day the lab receives the sample (if it arrives by noon) to reporting of results.

I have to admit that besides hoping that my son did not inherit the genetic makeup that makes celiac disease possible—as the results were printing out from my fax machine—I still held out the very slight hope that they had not found the markers in my genetic sample, and that my whole diagnosis was some sort of big mistake. This hope was quickly crushed as the report indicated that I was in fact part of an elite genetic group—one that carries both markers for celiac disease: DQ2 and DQ8—which I later discovered meant that I inherited genetic traits for celiac disease from both of my parents, rather than just from my mother, which was my original assumption. My father is no longer alive, but after discussing his results with my mother we decided that it is possible that he also had undiagnosed celiac disease, and it is interesting to note that he had diabetes.

I couldnt help but think that my results make me something like a "Super Celiac," although the genetic counselor at Kimball Genetics reassured me that having both markers for it doesnt necessarily mean that the disease will present itself any differently. Spencer turned out to be positive for DQ2, and my brother found out that he too tested positive for both DQ2 and DQ8. On the down side their results indicate that they will need to watch out for any future signs of the disease for the rest of their lives, and probably get screened for it from time to time. On the up side there is still only a small chance that either will ever develop the disease, and at least we will know to watch for its symptoms in the future, which likely would lead to a quick diagnosis and treatment should one of them ever get it.

Ultimately anyone who decides to undergo genetic screening must be comfortable with the results—positive or negative. I advocate testing because I believe in the saying that knowledge is power, and that it is better to know than not to know—especially when it comes to your health. Unlike other testing methods, genetic screening for celiac disease has the amazing potential to reveal whether someone has been misdiagnosed with the disease, even though the odds for such a scenario are small. It also can confirm a diagnosis, or let relatives of celiacs know that they do or dont need to worry about it in the future. My mother felt vindicated by our results, as they indicated that she wasnt the only person who passed celiac genes to her children—my father did too. Who knows, your genetic results may even have the potential to elevate your celiac status, as it did in my case, to that of—Super Celiac!

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3 Responses:

 
arlene
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said this on
25 Jan 2008 7:54:46 AM PDT
I just entered this very chat question and then did a Web search and found myself back in Celiac.com. This confirms for me that I am in the right place. thanks bunches.

 
sushi pie
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said this on
02 Dec 2009 9:16:04 AM PDT
Should a person whose DNA test is positive for the celiac gene avoid gluten so that they are less likely to trigger the disease later in life?

 
Heather
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said this on
19 Dec 2009 10:42:16 PM PDT
I work for a hospital that offered complete genome testing for $100. Since my mom is adopted, I jumped at the opportunity. I didn't pay much attention to my increased risk for celiac in the results. I have always had stomach issues, as did my mom. Belly aches and diarrhea are "normal" for us. I recently had a terrible bout of gastric pain and my doctor did some routine blood work and ct scan that all showed normal results. I felt like some kind of hypochondriac, so I dropped the issue. Eventually, I got back to "normal." Some time later I was looking at my genetic test again and started looking into celiac disease. My doctor has pretty much ignored my requests to look into this. My mom has been diagnosed with IBS and she got type I diabetes from an autoimmune attack. One of my sons also exhibits the same "normal" GI problems as myself and my mom. I went to a different doctor to have blood tests for celiac, and I am still awaiting the results. I am almost hoping I have celiac because this could be the answer to my GI issues, my migraines, and my allergies, though I find the prospect of living without bread and pasta almost unimaginable.

This is a good article. Thank you. If my results are +, I'll be spending a lot of time on your site.




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^^^^^^ good info, tips and tricks^^^^^^^^^ yes, crumbs will make you sick. also, breathing flour/pancake mix, etc that is in the air because eventually, you're going to swallow some.

Hello I was diagnosed Dec 15 of last year and went totally gluten-free the next day. I actually got worse before I got better - it's a steep learning curve - but now, 4 1/2 months later I'm finally seeing improvement. Hang in there.

Called my GI doctor today to make sure he is going to look at my small intestine and do biopsy for Celiac for my EGD and he is. Thanks for the tip everyone about have to start eating gluten again. The office told me to break my gluten free diet and start eating gluten everyday until my EGD. Here's to being miserable again for a few weeks ???

I can completely relate! The horrible mental effects that I have been living with for years is the absolute worst side effect of eating gluten, HANDS DOWN. Worse than the endless tummy aches, worse than the constant diarrhea, worse than the week long migraines, worse than the daily fatigue and body pain.... I honestly though there was something seriously wrong with me and hated my life because of how I felt mentally. I always felt like I was drowning, not in control of my thoughts, trapped in some unexplained misery. My head was always so cloudy, and I was mad because I always felt so slow and stupid. I would feel so lethargic and sad and empty while at the same time be raging inside, wanting to rip out of my own skin. I was mean, terrible, would snap at the people closest to me for no good reason and just felt like I hated everyone and everything. Think of how crappy you feel when you have a terrible cold and flu - I felt that crappy, but mentally. Some days were really bad, some were mild. I always thought it was because I was getting a migraine, or because I had a migraine, or because I had just overcome a migraine, because I didn't sleep well, because....always a random reason to justify why we have all these weird unrelated symptoms before we get diagnosed. I'm happy to say that I have been gluten-free for about 2 months now and though I am not symptom free, the first thing that improved was my mood. I no longer feel foggy and miserable. For the first time in years, my head is clear, I can actually think, and I feel positive and like I am in control of what's going on in my head. I don't hate the world. I don't spend every day bawled up on the corner of the couch depressed and angry. The release of these horrible symptoms is enough to never make me want to cheat, no matter what I have to miss out on. So insane how a little minuscule amount of a stupid protein can wreck such havoc.

I wanted to collect some of the info on NCGI in one place so that visitors who test negative but may still have an issue with gluten can be directed there. I'll add to this post as I find new links, but feel free to add or contribute anything you think may be of use! Matt --- Useful links: An overview from Alessio Fasano, one of the world's leading researchers on celiac and gluten sensitivity: https://www.youtube.com/watch?v=VvfTV57iPUY Umberto Volta, another leading researcher in the field gives some of the latest findings about NCGI: Presentation slides from Dr Volta's visit to Coeliac UK - NCGS about halfway through A scholarly overview from celiac disease magazine: https://www.researchgate.net/profile/Knut_Lundin/publication/232528784_Non-celiac_Gluten_Sensitivity/links/09e415098bbe37c05b000000.pdf A good overview from a sceptical but fair perspective: https://sciencebasedmedicine.org/a-balanced-look-at-gluten-sensitivity/ Another overview: https://celiac.org/celiac-disease/understanding-celiac-disease-2/non-celiac-gluten-sensitivity-2/ University of Chicago's excellent celiac site's take: http://www.cureceliacdisease.org/category/faq-non-celiac-gluten-sensitivity/ A compelling account in the British Medical Journal from an NCGI patient: http://www.bmj.com/content/345/bmj.e7982 Here's some positive news about a potential new test: http://www.medicaldaily.com/non-celiac-gluten-insensitivity-blood-test-392850 NCGI in children: NCGI and auto immune study: https://www.ncbi.nlm.nih.gov/pubmed/26026392 Also consider: Fodmaps: http://www.kcl.ac.uk/lsm/research/divisions/dns/projects/fodmaps/faq.aspx This Monash study: http://fodmapmonash.blogspot.co.uk/2015/03/the-truth-behind-non-celiac-gluten.html suggested some who think they're reacting to gluten should actually be reducing fodmaps Sibo: http://www.webmd.boots.com/digestive-disorders/small-intestinal-bacteria-sibo