Gene Testing

[GFandhappy]

I really appreciate the forum & have learned a lot the past 4 years, but have never posted (my question at the end). I went gluten-free in 2/2007 (age 46) after 7 years of being miserable and no help from MDs. In early '07 my father suggested that I get tested for celiac. GI problems run in my dad's family: my father had a long history of bleeding ulcers and GI problems; my sister has Chron's Disease that required an ileostomy, another cousin died from Chron's complications. My GI problems didn't seem like much in comparison, but I was getting desperate. I had been experiencing unrelenting fatigue, heartburn, some diarrhea (who doesn't), weight gain and constant hunger and depression. In the 3 months before going gluten-free frequent bouts of vomiting and migraines (I attributed to a sensitive stomache and multiple food poisonings). I had been diagnosed at 40 with Hashimotos (hypo thryroid), but despite increasing doses of Synthroid, my fatigue and symptoms only got worse. The only advice I received from MDs (primary care, endocrinologist, ob/gyn, psych for depression) was lose weight (I couldn't no matter what I did - I never had a weight problem before 40), exercise (impossible - I slept all the time and was exhausted), you're too stressed out by your job, it's perimenopause, it's in your head.

Gluten-free seemed a simple and harmless thing to try. The heartburn, vomiting and headaches stopped right away. My fatigue and depression were still there, but slowly got better. I started losing weight without dieting - 2-3 lbs. per week. I had an appointment with my endo in 4/2007 and before the appointment I asked for a celiac test. The test he ordered (I found out later) was incomplete plus neither I nor the endo realized that being gluten-free for 2 1/2 months could affect the results. I showed antibodies, but Dr. said he didn't think it was celiac; I was severely vitamin D deficient and hyperparathyroid as a result, which cleared up with prescribed mega doses of vitamin D. Although I asked the endo, he wouldn't give me a referral to a GI for celiac follow up.

I turned 50 and time for a colonoscopy and finally a referral to a GI. Nice guy, explained my gluten-free situation. He wanted me to do a gluten challenge and I said absolutely not. I'm back to my old energy levels, have kept 25+ lbs. off, went back to work, my husband is glad to have his wife back. Instead I agreed to the gene test and based on the results the GI says highly unlikely I have celiac - no DQ2 genes at all. Only a single DQ8 gene (not double). He said if I had neither DQ2 nor DQ8, my chance of having celiac would be 1/10,000. With a single DQ8, I'm at slightly greater risk - more like 2 in 10,000. My question for the forum, does this medical explanation make sense? Do most people diagnosed with celiac have the double genes (i.e., from both parents)? Regardless, I'll stay gluten-free. When I eat gluten accidentally (just a few times per year - I'm very careful), within 2 hours I'm in the bathroom with diarrhea and it doesn't stop for the next 2-4 hours (and it hurts!). The next 24-48 hours, I'm a zombie. Life is good again - only regret is I had to wait years to feel better.

[ravenwoodglass]

It is quite possible to be celiac and not have either DQ2 or DQ8. Gene testing is a realitively new science and there is much to be learned about celiac associated genes. Recently they have discovered up to 27 different genes that are associated. Your body has clearly given you the answer. Stay gluten free and continue to heal.