Doctor Offered Gene Testing...

[Presto]

I went back and forth with my doctor, who was not very well informed about gluten sensitivity. She insisted an antibody would always be around, even if I wasn't eating the trigger food. But I knew that was wrong, and sure enough scored pretty low on the TTg IgA blood test. A 4.98 after somewhat more than a month gluten free with two days of gluten "loading". I never thought I'd get in for a test that soon, but it was too soon, and I believe it was a false negative.

She didn't get back to me with the test results for two weeks, and I was sick of feeling sick and went back off gluten. I finally bugged her via email and she responded that no alert had been issued since my test was negative, to explain the delay. Meanwhile I'd stayed off gluten again, and couldn't stand the thought of eating more of it for testing. She offered an endoscopy after I showed her PAML's celiac panel testing guidelines page, but I was pretty sure I'd been off gluten for too long, and was healing. I declined, and asked if she'd accept a gene test from an outside lab as evidence. She said she would, and asked me what I wanted proof for at that point, since I was refusing further testing.

A note in my file, and "proof" for other family members who don't really accept my evidence of feeling like a completely different person without gluten. That's what I want.

Today she emailed me offering gene testing through the GHC lab. It is "celiac HLA gene typing". Is this effectively what Enterolabs does? If all they are looking for is the celiac genes, I suppose there is a possibility they aren't looking for the gluten sensitivity genes. That's my biggest worry, what if I get another false negative because this lab simply isn't screening for the particular DQ combination that heavily predisposes one to gluten sensitivity?

I think I will leave her another email with info from Enterolabs, on which genes I think will not be screened for, the particular ones that aren't necessarily celiac, but in combination lead to gluten sensitivity.

Does this sound like a good plan? I don't have any other knowledgeable sounding board in my life to bounce ideas off of, and my doctor knows less than I do. I don't know that much compared to some of you here, especially since this is all pretty new to me.

Feedback, anyone?

[mftnchn]

She may not accept Enterolab. I have not seen any posts here about GHC, so I would ask for documentation about the lab's record.

I've seen a couple of labs mentioned here, Promethius or something like that is one.

Hopefully you'll get more responses that will be helpful.

I think the "refuse more testing" comment shows a lack of understanding about how ill a gluten challenge can make people. So it would put up a red flag for me.

I think gene testing by a lab that is known to be reliable is important for your concerns. Then if you can get another symptomatic relative to test, try to make sure they get both blood work and biopsy before going gluten-free. If you get a confirmed case in the family, it will help confirm your own diagnosis as well.

[nora-n]

Enterolab sends the gene testing to the American Red Cross, according to those who got results recently.

[lizard00]

My GP sent me to a GI who then ordered the test through Prometheus. I've never heard of that particular lab either, but that doesn't necessarily mean anything. Enterolab, as I have heard, (and hopefully, someone else will jump in to clarify) only tests for half of the gene chain, so it's not totally complete.

The question is would she accept Enterolab? Perhaps she could refer you to a GI who could proceed from there. I was pretty reluctant to go to another GI (the first one told me I was nuts), but I'm glad I did. He is great, and it was important for him get a Celiac dx or as close to one as possible because of all the associated health risks. It's nice to know that he is on the same page as I am and will monitor my health w/out dismissing me because I'm self-diagnosed.

[Presto]

She did say she'd accept outside test results, but since she offered in house testing I suppose I will go that route. Not having to pay out of pocket sounds good. I just wonder what they'll test for. And if I could possibly still get a negative result, when I feel soooo much better without gluten. Just worried people will think this is all in my head. It's not, but my subjective experience isn't concrete enough.

I know, but I want to convince the doubters.

[mftnchn]

The question is would she accept Enterolab? Perhaps she could refer you to a GI who could proceed from there. I was pretty reluctant to go to another GI (the first one told me I was nuts), but I'm glad I did. He is great, and it was important for him get a Celiac dx or as close to one as possible because of all the associated health risks. It's nice to know that he is on the same page as I am and will monitor my health w/out dismissing me because I'm self-diagnosed.

Glad you had this experience. I just noticed you are double DQ2, as I am. Is the the 0201 or 0202 that you have two of? There aren't too many of us on the forum.

[lizard00]

Glad you had this experience. I just noticed you are double DQ2, as I am. Is the the 0201 or 0202 that you have two of? There aren't too many of us on the forum.

I have two of the 0201. I have noticed that we are the minority also. Off to get my son tested today, as it's certain he has one copy of the gene.

So, I'm still learning about genetics, and trying to get the punnet squares out the brain dust... I know that both of my parents have at least one gene because I have both. For this specific gene, does it mean that both of my parents are homozygous? Somethings that I have read make it seem that way, and then others don't. I know that I really need to sit down and just study this, but I have yet to find the time or the patience to do so.

[cruelshoes]

A note in my file, and "proof" for other family members who don't really accept my evidence of feeling like a completely different person without gluten. That's what I want.

Today she emailed me offering gene testing through the GHC lab. It is "celiac HLA gene typing". Is this effectively what Enterolabs does? If all they are looking for is the celiac genes, I suppose there is a possibility they aren't looking for the gluten sensitivity genes. That's my biggest worry, what if I get another false negative because this lab simply isn't screening for the particular DQ combination that heavily predisposes one to gluten sensitivity?

I think I will leave her another email with info from Enterolabs, on which genes I think will not be screened for, the particular ones that aren't necessarily celiac, but in combination lead to gluten sensitivity.

Does this sound like a good plan? I don't have any other knowledgeable sounding board in my life to bounce ideas off of, and my doctor knows less than I do. I don't know that much compared to some of you here, especially since this is all pretty new to me.

Feedback, anyone?

Group Health tests for DQ2 and DQ8. You cannot have a false positive or negative on gene testing - you either possess the genes or you do not. The gene testing is interesting, but not necessarily informative. 30% or so of the population has the genes for celiac, but very few of them go on to develop the disease. And it is unlikely, but possible, to have celiac without any of the main celiac genes.

The GHC testing will be performed at no cost to you, based on your plan, so if you want to do it, I say go for it. But you already know you feel better off gluten, so you probably already have your answer. If what you are looking for are test results to get naysayers to accept that gluten is a problem for you, Enterolab is not necessarily the right way to go. Dr, Fine has yet to publish his results in a peer reviewed journal, and that is why many doctors and lay people alike do not accept them. If your family does not already accept that you feel better, an unvalidated test will probably not convince them of anything. But if you want to do it and have the money, then go for it.

Good luck with whatever you decide to do.

[LadyMac]

I say, Bingo! to this comment from cruelshoes....'If your family does not already accept that you feel better, an unvalidated test will probably not convince them of anything'...

I almost had to browbeat my gp to get the celiac diagnosis written on my chart...I went to the office with notes on their past treatment and diagnosis, blood work, etc. I declined any other tests, even though my blood tests weren't a definite indicator...because I Know Best How I Feel and what works and what doesn't work. Reading here enlightened me about the lack of any one conclusive test being an indicator.

I know all of the information here seems overwhelming...especially if you are feeling 'foggy' from being glutened...you will find the folks on this forum more than willing to help you sort through the data...You couldn't find a more informed and helpful group than these posters! One of the most memorable and helpful comments I received here? 'The proof is in the poo!'

As for family members...shame on them! My family witnessed the change in my health and my attitude when I went gluten-free. They like seeing me rekindling interest in things I enjoyed previously but have grown too apathetic to care about. Worry about You first...families 'belief' later...if at all...It hurts that they doubt...but your health is your priority and this is your mission!

Hang in there and Good luck!

LadyMac