Pre diagnosis and no answers yet...

[Christy71]

Hello,

         I am not even sure where to start... I recently did 23andme and surprisingly I came back with an increased risk of Celiac Disease due to a variant on the HLADQ8 haplotype with gene HLA-DQB1 being affected. One of the reasons I did the health genome tests was because I have had issues for over 20 years and was thinking it might be Crohn's disease based on a Ubiome test I had done earlier saying that my biome was 90% similar to other patients who have Crohn's. Because my colonoscopy was relatively normal they (the doctors) decided I am digestively normal. Which I strongly disagree with. Since I was in my early 20's (I am 48 now),x I have had disruptive and almost debilitating GI symptoms for which they can find no cause. I was labeled with irritable bowel syndrome at around 25, which I told them is just a blanket term for "we have no idea". Anyways, I have spent 20 years with a cycle of severe, painful diarrhea, then a period of bloating, uncomfortable constipation. As the years have gone by the symptoms have blossomed and spread, At this point I have had a hard rock of continuous bloating at around the stomach area, frequent gas which could stop someone in their tracks, non specific arthritis symptoms for which I have had many test done and I do not have RA or any other joint related illness, brain fogs, I have developed a serious lactose intolerance that makes me nauseous and send me to the bathroom within 15-30 minutes with painful cramping and on top of that I have been treated for the last 6 years for a severe vitamin D deficiency (I have never been in the normal range and actually dip down to single digit levels if I do not take weekly 50,000 units continuously, for years). The only time I have any relief for the diarrhea was when I was on narcotics for several years due to a back surgery, once I went off the narcotics I went right back to my lovely cycle of pain and discomfort. My primary doctor, as awesome as she is, has moved on and given up I think, or has decided it is in my head or there is nothing that can be done. She basically changes the subject and wants to discuss my weight or some other issue I do not care about at this point. I am done with this and need an answer. I never once considered Celiacs! Not until I got my genomic testing back. Once I began to research it, it was like a light went on. I actually see a rheumatologist and once I told him about the testing he immediately ordered Celiac and IBD panels. The only test result that has come back is the total IgA, it looks as if that is normal. The rest of the test are send outs and could take a week or more. Though my doctor did say that the tests are not definitive and even if they are all negative that it does not mean I do not have Celiacs. So it is likely, unless the test are obviously high that I will need an endoscopy. My doctor said that Celiac likes to hide, it can be very hard to diagnosis for physicians not acquainted with it. I have not tried eliminating gluten yet as I have been told once I do that it will be next to impossible to get a diagnosis so I am holding out until it is definitive or I need to start looking for another explanation for my chronic issue. So I am wondering just how hard was it for everyone to get that diagnosis? how long did it take? Are there any other tests or intervention I could suggest if the blood tests are negative? I need answers and I am thinking Celiacs might be it. Thanks! 

[RMJ]

Good luck, my path towards diagnosis also started with 23andMe.

[Ranchers Wife]

Well... there are a number of people here, including myself, that never got an official diagnosis.

A diagnosis would be nice, but given that a very disruptive spectrum of symptoms that have flummoxed doctors for years.... are gone or minor on a gluten free diet, I assume that I am Celiac. At the very least, it takes a Celiac standards, no cross contamination careful gluten free diet to keep me healthy and functional, so that's what I do.

I think it's GREAT that you have a doctor that understands that Celiac can hide, and be hard to diagnose. 

So, if blood antibody tests are negative your doctor might be willing to do an endoscopy and biopsy looking for Celiac. 

If that's inconclusive, your next option would be to try going gluten free. Keep in mind that if you really do have Celiac disease, you need to be exacting on your food... very, very careful and consistent to avoid even traces of gluten.

Both the blood antibody tests, and the biopsies, can come up negative in a person that does indeed have Celiac disease... most commonly if the Celiac person was not eating enough gluten at the time of testing, but also if the Celiac person is taking steroids or immune suppressant drugs at the time of testing. 

 

I hope you get some good answers from your doctor. Good luck!

[cyclinglady]

It looks like you are on the right path to getting a diagnosis.  I agree that if that diagnosis continues to elude you, you should trial the gluten-free diet.  

My hubby went gluten-free 12 years before my diagnosis.  Does he really have celiac disease?  We will never know as he refuses to go back on gluten to get tested because we know gluten makes him sick!  

[squirmingitch]

There are 6 tests in the full, current celiac serum panel. They are:

Anti-Gliadin (AGA) IgA
Anti-Gliadin (AGA) IgG
Anti-Endomysial (EMA) IgA
Anti-Tissue Transglutaminase (tTG) IgA
Deamidated Gliadin Peptide (DGP) IgA and IgG
Total Serum IgA 

Also can be termed this way:

Endomysial Antibody IgA
Tissue Transglutaminase IgA 
GLIADIN IgG
GLIADIN IgA
Total Serum IgA 
Deamidated Gliadin Peptide (DGP) IgA and IgG

Look at cyclinglady's info. below her avatar. She only test positive to the DGP IgA which is unusual but not unheard of & she has been tested numerous times so make sure you get all the serum tests. Your rheumatologist actually sounds like he knows what he's talking about! Yay! Problem is, convincing a GI doc who will be the one to do an endoscopy & getting said GI to do it correctly with 6 biopsies. Yeah, what ever you do, keep eating gluten (1 or 2 slices of bread or crackers per day) until all testing is finished. 

I agree with everyone else, if at the end of the day when all testing is completed & IF everything turns up negative then you owe it to yourself to go strict gluten free for a min. of 6 months, preferably a year. 

 

We have a standing half serious/half not joke around here. IBS stands for I Be Stumped diagnosis.