Genetic Testing

[missj]

So I was reading that if I do the genetic test, I don't have to eat the gluten. I have been gluten light for over a week now and although I'm still tired and am still constipated, it's not AS bad and I have had 2 good weeks with enough energy for the gym. Plus, I have GAS! For the first time in months, I can feel things moving, I burp and toot and its fantastic!(Sorry if I'm over enthused, but when you feel like you have had bricks in your abdomen for 6 months, you get excited about these things!) I originally wanted to just try it for a couple days and then go back on gluten full force so I could get tested the right way but I don't really think it's worth it. My brain is starting to go and I since I work with young kiddos that have moderate disabilities, I can't have that. I forgot to walk a kiddo out to a parent today at dismissal and the gym teacher had to do it for me...boy, was I embarassed! It was fine, but for the sake of the safety of the kids, my co-workers and myself I can't let this fog get anymore dense.

So I have concocted a master plan! (insert evil laugh!) I am going to try and make a deal with my rather devilish-condecending gastro, who has this insatiable need to scope me for UC/Crohns and NOT Celiacs: Do the genetic test first. All of them that would show the possibility of Celiac/gluten intolorance. If they come up negative, I'll agree to a scope. If they come up positive, I'll go gluten free, leave you alone and we'll all be happy.

Think it will work? Or am I just kidding myself?

[MsCurious]

So I was reading that if I do the genetic test, I don't have to eat the gluten. I have been gluten light for over a week now and although I'm still tired and am still constipated, it's not AS bad and I have had 2 good weeks with enough energy for the gym. Plus, I have GAS! For the first time in months, I can feel things moving, I burp and toot and its fantastic!(Sorry if I'm over enthused, but when you feel like you have had bricks in your abdomen for 6 months, you get excited about these things!) I originally wanted to just try it for a couple days and then go back on gluten full force so I could get tested the right way but I don't really think it's worth it. My brain is starting to go and I since I work with young kiddos that have moderate disabilities, I can't have that. I forgot to walk a kiddo out to a parent today at dismissal and the gym teacher had to do it for me...boy, was I embarassed! It was fine, but for the sake of the safety of the kids, my co-workers and myself I can't let this fog get anymore dense.

So I have concocted a master plan! (insert evil laugh!) I am going to try and make a deal with my rather devilish-condecending gastro, who has this insatiable need to scope me for UC/Crohns and NOT Celiacs: Do the genetic test first. All of them that would show the possibility of Celiac/gluten intolorance. If they come up negative, I'll agree to a scope. If they come up positive, I'll go gluten free, leave you alone and we'll all be happy.

Think it will work? Or am I just kidding myself?

It seems you're aware that a positive genetic DQ2 or DQ8 simply either eliminates the probability or includes you in the pool of possibility for celiac disease. It basically does nothing for a diagnosis, although with symptoms, it is a pretty strong indicator of gluten intolerance of some sort. I was going to just go with that too, but after doing some reading, and realizing the impact of actually having celiac and not knowing for sure was enough for me to let them schedule the endoscopy. I also found out (when seeing the GI) that there were some elevations in my lab tests that meant something to him, but that didn't "register" with my GP, so I would highly recommend really visiting the options and the reasons for actually finding out for certain.

I figure if my endo biopsies are negative, I'm gluten intolerant, but not celiac.... and if its positive, I know for sure and can monitor other issues that could potentially be a concern down the road. The other thing is, if you find out for sure, it is an important piece of information for your relatives. For me that was really critical, because not only are my parents and son involved, as well as my 5 siblings, but I have 10 aunts and uncles and 49 first cousins who could benefit from knowing for sure.

Do what you feel is best for you, just be aware that you have a "window of opportunity" that is essentially diminished if/when you go gluten free without being biopsied first. Many people here have idiot doctors that "just don't get it" and try as they might... couldn't get the test or the support from doctors and had to go gluten-free on their own. They did what they had to do, but if you have a choice, give it some good consideration, and THEN AFTER the testing ... go totally gluten-free (not just lite...because that really does NOTHING for you". That's just my thoughts on this. Good luck..and hope you feel better soon!

[salexander421]

I know a lot on here don't put much stock in genetic testing, which I can see since it's not really much of a diagnostic tool. But, I'm all about using it as a piece of our own little puzzle. When we first started suspecting celiac with our daughter we brought her to a GI and even though she was gluten free already they wanted to blood test her. We went ahead with it and of course it came back negative. Her GI recommended doing a gluten challenge and having her retested. Well, I know it is possible to have celiac and not have DQ2 or DQ8 genes but I also know that these genes are very common within people with celiac disease. So, my thought was to do the genetic test before doing the gluten challenge. If it was negative for these genes we would just stay gluten free and not investigate further, if it was positive we would talk about doing the challenge for retesting.

Long story short, she did test positive for DQ8 and we did the gluten challenge with her. She still tested negative after all that but her symptoms were enough for me to be convinced that she may still have celiac and if not celiac, definitely non celiac gluten intolerance. I'm glad we did the genetic testing, knowing how she responds to gluten and the fact that she has one of these genes is more than enough for me to keep her gluten free. I also found out I carry two copies of this gene which means my other daughter has it and both my parents do to, and all of us have negative responses to gluten. I think genetic testing is a great idea as long as you're aware that if you don't have these two genes you can still have celiac and, if you do have them then it's not necessarily true that you do have celiac.

I think your plan sounds like a great plan

[salexander421]

Oh yeah, and if you do decide to go with the endoscopy it really is a very simple procedure. I had it done last week and just waiting on the results. I don't remember a thing and I was wide awake right after and ready to get on with my day.

[missj]

I'm really not worried so much about getting an actual diagnosis as I am wanting an easier way to prove I'm not crazy. The testing doesn't bother me, I just don't feel what my doc wants to do is okay. One test at a time, basically because she's convinced that celiac is not a possibility. Yet I have not even had a full celiac panel done! I'm frustrated and I'm tired of stressing about it. I just want to go completely gluten-free now and say screw the docs but if I do I also don't want to deal with the questions and not have a "conventional" reason behind it. I know I don't need one for the sake of other people but it would make life easier.

[MsCurious]

I'm really not worried so much about getting an actual diagnosis as I am wanting an easier way to prove I'm not crazy. The testing doesn't bother me, I just don't feel what my doc wants to do is okay. One test at a time, basically because she's convinced that celiac is not a possibility. Yet I have not even had a full celiac panel done! I'm frustrated and I'm tired of stressing about it. I just want to go completely gluten-free now and say screw the docs but if I do I also don't want to deal with the questions and not have a "conventional" reason behind it. I know I don't need one for the sake of other people but it would make life easier.

Hi missj! As I was reading your post... I had to look again to make sure I didn't write it! LOL I went through the same thing! After ONE test (negative tTG) and him dismissing my concerns, I told my doctor I wanted the genetic test so that I could feel comfortable dismissing celiac as a possibility. If it was negative... fine, I'd look elsewhere...if it was positive... with the symptoms I have, I wanted more tests. Perhaps that's the approach you need to take. It IS so frustrating trying to educate doctors on new research and findings, and get them out of the dark ages about celiac disease and gluten intolerance in general! I hope you get the answers you seek!

[salexander421]

I know what you mean, I think many of us would just like the diagnosis so that people don't think we're crazy. But on the other hand if all the testing, including genetic testing, ends up being negative will you feel even more like people will think you're crazy? Because even with the symptoms clearly there you could still end up testing negative on everything. Just make sure it won't make you second guess even more if you don't have a positive genetic test, or blood test, or biopsy.

This is something I'm struggling with right now, trying to tell myself that it doesn't matter what other people think. Gluten clearly makes me feel bad, and I'm happier and healthier on a gluten free diet. I believe it's ok to tell people you're gluten intolerant without any kind of official diagnosis. I think it just takes a lot of self talk

[missj]

Yeah, I self talk a lot but I still just use a "low carb" response when asked why I pass on bread/ chips etc. And since I'm pretty health concious, people see me reading a food label and assume I'm looking at calories and fat, not the ingriedients list. It works quite well.

[goodnews]

I think your evil plan sounds good But I would probably have the endoscopy either way though. That way maybe you would know if you are celiac or not, as the gene still won't tell you that. But if you have the gene he may take more biopsies and take it more seriously. I just had an endoscopy done and they only took 3 biopsies (one of 3 different parts) and then after seeing inflamation in the small intestine they want to do yet another endoscopy probably. I am wondering why they didn't take more the first time, but it is because I had a negative blood test for celiac and they really weren't looking for it. Now I just did the gene testing today. Does anyone know what the probability of having Celiac without having those genes? Does the gene testing show intolerance or just the possibility of Celiac? Curious to know more about how that works.

Good luck on your plan and getting your doctor to agree to it.

[Bubba's Mom]

My blood test came back normal. My endoscope biopsies showed Celiac Sprue with severe damage. My GI said she can do genetic testing if I want, but I'm wondering if there's any sense in doing it?

She seemed surprised when I told her I already had a diagnosis, so didn't see the sense in more testing. If they could remove that gene...then I'd be all for it!

I wondered also..it seems like everyone here seems to know their various levels and test results. Should I ask for copies of my test results? The GI Dr. didn't offer them to me and didn't tell me what she found. I had to ask her if my blood test showed Celiac.

[sa1937]

Welcome to the forum! I have no idea what genes I have nor does my daughter, who also has celiac. While I suppose it might be interesting, I really don't need to know as I'm already diagnosed. And you are also diagnosed based on the biopsies even though the blood tests were negative, which is not uncommon.

It is a good idea to pick up copies of all test results, which would include any tests they do for vitamin deficiencies, etc.