I Went Through Celiac Disease Genetic Testing, I Couldn’t Believe How it Ended
February 5, 2015 by Amy Leger | G+ Amy Leger
This fall I experienced the full celiac disease testing regimen: blood test, biopsy and later, celiac disease genetic testing. I didn’t have any symptoms, so why do it?
I have a strong family history:
- My daughter, Emma (who is now 16) was diagnosed nearly 15 years ago.
- It was after that I found out my paternal grandpa’s sister had been living with celiac disease for about 40 years.
- Then my brother was diagnosed in 2008.
- And with many health issues, Mayo Clinic doctors believe my dad probably has celiac, but previous uninformed doctors had him “try the gluten-free diet” rendering the blood test unreliable. He would have to go on gluten to know for sure if he has celiac, but he’s not willing to risk it. Doctors confirmed he has the gene.
Now there’s me. I don’t have any symptoms. But I wanted to know if I had it. I didn’t want to be a story of an asymptomatic celiac with all these health troubles later in life because celiac was diagnosed late.
Celiac blood work & biopsy
So last fall I started the process of getting tested. First, I met with doctors at Minnesota Gastroenterology. They took my celiac labs, but felt the family history of celiac and other autoimmune disease was so strong, a biopsy would be good. I got the biopsy in late September of 2014 and documented it in Part 1 and Part 2.
The biopsy and the blood tests were both negative.
Celiac disease genetic testing
Then I met with a physician’s assistant who specializes in celiac to discuss the genetic test in October. The test to look for HLA DQ2 and/or DQ8 has been around for years. I never planned to test for it because it was obvious I was the carrier.
HLA DQ2 and DQ8 genes are found in about 30% of the American population, according to the National Institutes for Health. Only about 2-3% of people with one or both of these genes get celiac. And of those with celiac disease, a New York Times blog article says “95 percent of people with celiac disease have genes that include HLA DQ2, and 5 percent have genes with HLA DQ8”.
So if you don’t have these genetic markers for it, you likely won’t get celiac. However, the expert in the NYT blog said it may not be all about those HLA genes, “So far, scientists have identified over a dozen possible non-HLA genes that may be associated with celiac disease, but whether these genes actually play a role remains to be seen.”
I received the insurance codes for the procedure so I could inquire with the insurance company to see if they would cover the test. I moved forward– but dragging my feet the whole way. I wondered, Why bother? I didn’t do anything for the month of November. Then December came. I had met my deductible so if I were going to do the test, now would be the time. That’s when I inquired about insurance coverage for me and my other daughter Grace: After about a week to 10 days, we got word that mine would be covered but Grace’s wouldn’t.
I eked in the test on December 31st – just before the year-end cutoff. It was a simple blood draw. I was in and out of the clinic in less than 10 minutes.
January was a busy month, I had no idea until January 30th I hadn’t been contacted. So I looked in my patient portal to see if the results were in there…sure enough, they had been sitting since January 6th. I opened it and couldn’t believe what I read:
I don’t have the gene! Wait, What? I don’t have the gene?? How is that possible? I wondered.
How can so many of my first-degree relatives have celiac and I NOT at least have the gene?
I have talked about this with my family. But I have been sitting on the information for a week, without saying a word on my website. I don’t know what to say right now, other than to tell my story.
I am confronted with many emotions. For 15 years I figured celiac would “rear its ugly head” eventually in my adulthood. I almost felt like I was looking over my shoulder for it.
But to know it is likely I will never get celiac is both a relief and confusing for me. My husband and I wonder if he should do celiac disease genetic testing now, even though he has no family history.
Is it possible for the gene to skip a generation? Alas, I cannot find any information about this possibility anywhere online. I emailed my doctor and have not heard back. I emailed Stanford’s celiac center to see if a specialist could elaborate on my questions…still no answer.
So I couldn’t wait to share this news any longer.
Well as you can tell, I am still processing all of this. Feel free to share your experiences. I am now an advocate of the genetic test. The information it gave me helped clarify my thoughts on my own health for the rest of my life.
Tags: blood, celiac, disease, DQ2, DQ8, free, gene, genetic, gluten, gluten-free, HLA, negative, positive, test, testing
February 5th, 2015 at 9:47 am
So interesting! Two of my husband’s siblings have celiac, and there’s lots of autoimmune conditions in the family. My son (who had clear symptoms) tested negative, and later had a negative gene test. We have asked his aunt to have the gene test (sometime when getting blood work anyway) to confirm that the standard celiac genes are in play here. On the other hand, we don’t want her docs to decide she doesn’t actually have celiac if no gene. Likely, my husband will get the gene test. Perhaps his branch of the family won’t have it.
February 5th, 2015 at 9:59 am
That is very interesting! I went the same route and had the genetic testing as my GI doc was 90% positive I had celiac as well– I had ALL Of the symptoms. Turned out the genetic test showed I didn’t have either of the genes! So the fact that some other factors may be at stake is very informative.
Of all the centers, Stanford, Chicago, Columbia, Harvard/Mass General– you can try consulting Dr Gualaligno (Chicago), Fasano (Mass), Green (Columbia) and see if you can get an answer from any of them. So where do you go from here?
Might be smart for your husband to get tested, but do you continue to eat gf?
If it makes you feel better? why not. I do have non-celiac gluten intolerance and cannot imagine not eating gf.. Good luck!
February 5th, 2015 at 10:23 am
I have no medical background, but it’s so interesting the way this disease works. I’m about 99% positive that it was my maternal grandmother who gave it to me. My mother does not have celiac, but all three of her daughters do. As far as the gene goes, I don’t know if my mother is a carrier, but how in the world does she not have it when all of her female offspring do. Then, I had my daughter genetically tested. I don’t have the paperwork in front of me, but she had one wonky gene. Not the major “oh, you have celiac gene”. So now, we blood test her for antibodies once a year. Just strange. I’m curious to see how/who the carrier ends up being for your family and if it does skip.
February 5th, 2015 at 11:30 am
Personally, I would get tested somewhere else that uses a different lab. Labs can make mistakes. If you still come back negative, maybe your husband (father of children) should get tested. I am the only one in my extended family, including distant cousins I’ve connected with on Ancestry.com, that has celiac. I’m still looking for the ancestral line that the gene passed down through. I was not diagnosed until age 62.
February 5th, 2015 at 2:00 pm
Thanks for sharing your experience. I’m just in the middle of writing a post for my blog about my family genetics with non-celiac gluten sensitivity. And, it’s taking me a long time because there is so much conflicting information. Your experience confirms it too! I agree with Julie, that you might have another genetic test from another lab. I also believe that the medical community doesn’t have all the answers yet. I’ve heard that one can develop celiac disease without the gene simply by having such dramatic damage to their gut. Do you know of Dr. Rodney Ford? He is a pioneer in this field and has an online clinic. I’ve met him a few times, and he is a terrific doctor with a clear understanding of celiac disease. Check out his website and clinic: http://drrodneyford.com
Please keep us posted so we can learn too. Thanks!