2Nd Opinion Of My Tests

[Smarts]

Okay follow up of my GI who after he said he found patches of VA, ran blood work and said no way to any food intolerance considering I only have one Celiac gene which meant nothing. I have spent the whole week trying to get capsule endoscopy report and blood test results from him - am still waiting. So I went into my GP today who gave me print outs of all my blood tests (incl. tests my GP ran for iron deficiency) and included is the latest letter from GI to GP. All it says is that he still can't find cause of iron deficiency, will review my capsule endoscopy but didn't find anything serious!!! Meanwhile he is keeping me on PPI's, because it appears to control my GORD, for reasons he can't explain (actually if he had listened, the drugs don't work) and because of my maternal history of breast cancer (my mother is the only family member to get breast cancer, which we were told was caused by old age, not hormones or genes).

So moving on - went to visit this other doc who has been recommended to me (but is also not popular with medical system for breaking too many rules). He was almost certain that I have gluten intolerance, but his receptionist phoned the pathology lab who faxed them my gene test:-

HLA DQ2 Alleles

DQA1 *05 Negative

DQB1 *02 Positive

HLA DQ8 (both were negative)

This doc tells me that that result is enough to give me a 1 in 20 chance of Celiacs Disease. He tested my zinc levels which are low. He is running more blood tests for deficiencies at a different lab as he said the lab GI uses gives very basic results. He told me that for DQ2 you only need one positive to be at risk

My iron levels over the past year have been anaemic and he is shocked that no doc has given me iron injections. He has done the deed.

Maybe someone can explain why the GI does not believe I have gluten intolerance from the above gene test *? Is the new doc wrong? Also why he showed me patches of flattened Villi on my capsule endoscopy and then goes silent about it. I know I've been living with brain fog for 20 years but this is ridiculous

* okay just read somewhere that you have to be positive to the DQA1 *05 - damn it this whole thing is so confusing. But the doc I saw said that he was certain that a more comprehensive blood test would have shown up other important genes - think I might ask him to run those, though at the moment I just want to get on with my life and put all this behind me.

[Skylark]

You do NOT have to be positive on any of the genetic tests to have celiac. They only assess risk. Your doctor who says you are at elevated risk for celiac with one copy of DQB1 *02 Positive is absolutely correct. Having DQA1 *05 Negative puts you at somewhat less risk, but YOU HAVE VILLOUS ATROPHY!!!

[Smarts]

You do NOT have to be positive on any of the genetic tests to have celiac. They only assess risk. Your doctor who says you are at elevated risk for celiac with one copy of DQB1 *02 Positive is absolutely correct. Having DQA1 *05 Negative puts you at somewhat less risk, but YOU HAVE VILLOUS ATROPHY!!!

Thankyou Skylark - I do wonder why it is so important to me to have an undeniably positive result - crazy. But I do want a piece of paper that tells me I didn't dream up the villous atrophy thing.

Got to tell you a funny thing re the Bipolar though. This new doc I saw today is miles away, it was an hour & half drive (and I never drive outside my comfort zone ) - he's also anti drugs and the establishment. So I mention my psychiatrist (who is just the best doc ever) and the seroquel. So I expect him to give me a hard time about my psych, but when I mention his name it turns out he is famous - the doc pulled out all these medical journals and it turns out my psych writes a very witty column every week - and this doc thinks my psych is a legend. Small world. (And it was my psych who encouraged me to stick with the gluten free diet).

[Skylark]

OMG they stuck you on Seroquel too? You poor thing. I had to take it once when I went 10 days without sleep from a manic epsode. It knocked me out so hard I slept for almost 48 hours straight. Awful stuff but it saved me from being hospitalized (or dead). Talk about brain fog - I was afraid to drive.

Look, if you're dying for paper go to Enterolab.com. The tests are super-sensitive and if you've still been eating small amounts of gluten you'll probably have the stool antibodies. You don't need the genetic tests so it's a couple hundred bucks. Personally, I think the tests are TOO sensitive and the owner blithely ignores the risk of false positives, but maybe that's the piece of paper you need to convince yourself.

You ARE celiac. You have villous atrophy, are gluten sensitive, get canker sores, mood disorder from gluten, idiopathic anemia and need shots because you can't absorb iron from food or pills. You are poisoning yourself and every day longer you eat gluten you are depriving your body of iron, calcium, B vitamins, and the other things it needs to heal up. You will beat the bipolar disorder too, and trust me, it's a lot better to not be bipolar!

[ravenwoodglass]

You ARE celiac. You have villous atrophy, are gluten sensitive, get canker sores, mood disorder from gluten, idiopathic anemia and need shots because you can't absorb iron from food or pills. You are poisoning yourself and every day longer you eat gluten you are depriving your body of iron, calcium, B vitamins, and the other things it needs to heal up. You will beat the bipolar disorder too, and trust me, it's a lot better to not be bipolar!

I agree with Skylark. I really think you should just accept it and get on the diet and heal. They are finding more and more genes associated with celiac every day and gene testing is in it's infancy. Gene tests should never IMHO be used to strictly rule celiac in or out.

Get yourself gluten free and you will likely find your 'bipolar' resolves along with all the other issues.

[missceliac2010]

Bottom line = Tests for Celiac suck! (My doctor told me that personally...well, technically he said inaccurate, but I like smaller words... haha. And his daughter is a Celiac, so he has lots of exp with the disease and is well-read on the subject.)

You know your body! Doctor's are considered to be practicing medicine, right? Well, he can practice on someone else. I'm a Celiac, and so are you! Good luck, enjoy your new found health with your new diet and we'll see you around the boards!

[nora-n]

most diagnosed celiacs everywhere have only one DQ2 gene, but I do not have any sttistics but it is so obvious that one certainly should find about 10 references quickly.

Some few doctors say one needs two celiac genes but that is not tru with celiac. Other conditions need two genes, like hemochromatosis but 5% of hh patients do not have them. Other conditions either need one gene or two, it varies.

Some days ago someone posted here that the doctor said one needs all three or foru genes to be celiac....that is so wrong, as there are only two genes, so he must be talking about alleles and only one allele is enlugh to be more celiac prone, half a gene. (05* in teh alpha chain)

[cassP]

AMEN to all the replies above! i canNOT believe your Doc saw VA & said you were fine!!!????!!!!! and he only tested you for 3 Celiac genes???? none of the antibodies tests either??

you need your test copies for your own file, and you need a new doc... and REALLY you dont need anyone's permission to eat gluten free. GOOD GOD- i really dont like your doc, lol.

**AND--> unless you're in the middle of a full blown ulcer attack- i would not take any of those drugs for heart burn either- they will mess up your digestion even more. (i went thru this- took Zantac for 4 years.. ended up with Low stomach acid, more digestion problems, H.Pylori, etc...)

your stomach NEEDS stomach acid! GERD is usually the result of your (flap between your esophagus & stomach)not staying shut- due to diet &/or stress, overeating, pregnancy.... in the past- wheat was my biggest trigger for heartburn...

[vbecton]

You seem textbook Celiac to me! I was much like you, in that I wanted a confirmation of Celiac. I wanted to make sure I wasn't crazy or at least, I could blame it on Celiac if I was .

I had scalloping on my endoscopy and the lab report says "no signs of Celiac." But, that was from the lab, my doctor disagreed and diagnosed me based on this and my symptomology. I had low levels of several vitamins and amino acids, but my blood test results always showed negative....and low negative I might add. PUH, yea right!! I also have malabsorption that is still plaguing me.

It seems you fit the description. I hope you can get the answers you are looking for and that probably starts with the right doctor. I had to got through a lot of zero's before I found my hero...doctor that is.

[GFinDC]

Your genetic test won't tell you if you have celiac or not. Blood antibodies or an endoscopy are used for celiac diagnosis, plus diet response.

Lots of people have genes for celiac but don't have the disease.

[Smarts]

Hi Nora - it was me who said my doc said I needed at least 2. Yup this is what I am dealing with.

As usual you are all amazing. Having confirmed results is not only important for me but I feel my little girls too. I had to make a dash to the toilets in the shopping centre the other day so that 9 yr old could gag (she's on the gluten-free diet but maybe something crept in). Also my Mum has had everything wrong that could possibly go wrong and her biggest gripe is her IBS (it would take a whole new post to go into all her illnesses). And she won't accept any of this. But I am sticking with the gluten free diet. A year ago the doc ran blood tests at the first consultation. I didn't know what they were for. I came up negative for the gluten antibodies (but he never asked me about my diet and that over the past 4 years I have avoided bread, pasta, pastries, cakes etc (even rice) because they make me feel bloated and put on weight). All that came up was the iron deficiency. I am going to avoid taking the Pariet now unless my heartburn is really bad. The doc yesterday told me to stop taking it.

As for the Seroquel - at first I didn't want to take it but I gave it a trial as anti-depressants had their side effects on my tummy and I was cruising close to a depression. Psych started me on 25mg (I was a zombie), then we cut it in half. He lets me be flexible with my dose. All this stress over the past week has pushed my dose up to 50mg so I am sleeping like a baby. If I stop taking them I know my Psych would support me. He is so encouraging of me staying on a gluten-free diet.

*Just phoned my GP. He is the only person who hasn't been caught up in this and I feel he should. I just want to know why the GI showed me patches of VA on the film of my endoscopy and is now saying my VA is clear and iron deficiency remains a mystery. My GP paused for a long time and then said "make an appointment to come in - then I will phone the GI".

[nora-n]

The most common constellation with celiac is one HLA DQ2 gene (must find reference but noone here needed that)

Open Original Shared Link explains more, with charts

go on there to DQ2

"The vast majority of coeliac patients have one of two types of HLA-DQ.[22] This gene is part of the MHC class II antigen-presenting receptor (also called the human leukocyte antigen) system and distinguishes cells between self and non-self for the purposes of the immune system. The gene is located on the short arm of the sixth chromosome and has been labelled CELIAC1.

There are seven HLA-DQ variants (DQ2 and DQ4

[Skylark]

As for the Seroquel - at first I didn't want to take it but I gave it a trial as anti-depressants had their side effects on my tummy and I was cruising close to a depression. Psych started me on 25mg (I was a zombie), then we cut it in half. He lets me be flexible with my dose. All this stress over the past week has pushed my dose up to 50mg so I am sleeping like a baby. If I stop taking them I know my Psych would support me. He is so encouraging of me staying on a gluten-free diet.

*Just phoned my GP. He is the only person who hasn't been caught up in this and I feel he should. I just want to know why the GI showed me patches of VA on the film of my endoscopy and is now saying my VA is clear and iron deficiency remains a mystery. My GP paused for a long time and then said "make an appointment to come in - then I will phone the GI".

Your GP sounds great.

As for the Seroquel, as well as being gluten-free I had to go pretty heavy-duty nutrition to get my bipolar to resolve. I take a fairly expensive chelated vitamin and micronutrient supplement from TrueHope called EMPowerPlus that's designed for people with bipolar illness. I also take fish oil, which is fairly important for maintaining my mood. As I went off my lithium and lamictal and onto the EMPowerPlus I worked with my psychiatrist the whole time. He was skeptical about the EMPowerPlus (as he should have been) but when he saw the bipolar go into remission he became very supportive.

I guess I'm saying don't expect the bipolar to go away quickly. If Seroquel is working for you, that's wonderful. Take whatever you need to keep your mood stable. I made that comment because it was way too strong for me.

[Smarts]

I guess I'm saying don't expect the bipolar to go away quickly. If Seroquel is working for you, that's wonderful. Take whatever you need to keep your mood stable. I made that comment because it was way too strong for me.

Thanks for the Bipolar advice. The Seroquel comment was appreciated, I am cautious over "mind altering" drugs, but experience also tells me they can make life bearable. When I went on the tablets I read about all these people who complained that their life was destroyed by Seroquel because they couldn't get out of bed. Most were taking 200 - 300mg and I had to wonder why you would put a drug into your body that is ruining your life. Same could be said of gluten ofcourse.

Anyway I noticed this morning the comment at the bottom of my gene test report from the nameless, faceless pathology people who only had one vial of blood to go on:

"Interpretation - Consistent with, but not diagnostic of coeliac disease".

A little different from the results as presented by the GI "you have less chance of having any food intolerance, let alone a gluten intolerance than the average person".

[Skylark]

"Interpretation - Consistent with, but not diagnostic of coeliac disease".

A little different from the results as presented by the GI "you have less chance of having any food intolerance, let alone a gluten intolerance than the average person".

Oh, my. Your GI seems to have an odd agenda. I'm so glad you're able to work with your GP now.

[Smarts]

Can this get any crazier - I don't know whether to laugh or cry?

So I saw GP this evening - boy was I nervous. He looked at the gene test result and said that he had never heard of diagnosing by gene tests before and personally he thought a diagnosis should be based on symptoms and reaction to the gluten free diet alone (who cares about the silly tests). He thought the GI had probably looked into this too much. I showed him the test results and he said that I definitely have the 'coeliac gene' and it is baffling that the GI made the comments that I couldn't get a food intolerance (he then took a photo copy of my results for his records). He noted my antigen tests were really low but agreed with me that unless I had been on a high gluten diet (I have barely touched gluten rich foods in 4 years), this is irrelevant. He basically said that the most sensible thing for me to do was to keep a gluten free home, let the kids have fun and enjoy food and if they are at a party and want to eat the cake - just let them. Only by these mistakes can I know for sure anyway. I have to be the judge - but that it is silly to take it all too seriously, celiacs is very common!! and this is not a life threatening diagnosis. He phoned the GI and left a message. I reminded him of one daughters diagnosis of IBS from him and her ongoing tummy aches and nausea and he said "oh maybe your kids are showing the signs already". I actually left there feeling pretty good. GP said gluten free diet was by far a healthier way of life anyway. My problem is that we are going on a big trip to other side of world in a few days (did I mention I am in Oz), we are going to wedding and I am stressing over food.

So driving home with kids half hour later. Girls want to know what doc says and I tell them that yes gluten gene is in our family and it is up to them if they eat gluten foods or not. Then phone rings. It is GI!!!! He has just got message. Hasn't spoken to GP yet but is really sorry that he has confused me so much. He explained that he had thought he found a tiny patch of VA on capsule endoscopy (funny how he'd shown me patch'es' - but anyway) but on reviewing the film a 2nd time he concluded that as it was in the same area as where he took the biopsies from the endoscopy (last year) and they had been clear, it was unlikely. And as my blood work shows I have no chance of having a 'wheat intolerance' the conclusion is that this was just a tiny thing that really means nothing and is irrelevant!!!

He asked me how I was, I told him "I'm really feeling great actually" (yeah right!!) and thanked him for being so considerate to call me back (yeah after calling his office 3 times last week) and that I totally understood and am pleased he cleared it all up for me. Really I won't be bothering him more about this (because I won't be bothering him about anything anymore, I'm done with doctors).

So I will see my friends doc tomorrow for results of more blood work and another iron injection. No doubt he'll bang his head through the desk again in disbelief. Then off on my hols and when I get back GP said he would like me to make regular visits to check on my iron, which he is sure will improve on a gluten free diet, as will many other of my ongoing symptoms!!!

Okay the tally = 4 doctors - GI, Psychiatrist, friends GP with special interest in gluten intolerance, my GP

3 Docs figure I should be on gluten free diet and I have a celiac gene

1 Doc thinks I'm wasting my time and have no chance of having a food intolerance in my lifetime!!!

Lets just call this my little test - now where's the positive!!!

[vbecton]

I really do remember being exactly where you are in the doctor loop. Before I found THE greatest GI doctor, I thought I was losing my mind. I had several other doctors tell me, "yeah, you might have Celiac, but it's nothing to worry about, just don't eat wheat." I can't believe guys like this can even hold a license to practice medicine!!! Our family doctor never took me seriously despite knowing my symptoms and treating our family for 15 years. Once I got the diagnosis from the great doctor, I had to go back to my family doctor for my daughter's check-up. I mentioned to him that I finally was diagnosed and confirmed Celiac and he said, "well I don't know how you could be." And never elaborated. Needless to say, we switched our family doctor. Which I might add is sad that after 15 years of treating us he decided to have an ego problem about me having Celiac.

Don't cry, but you are allowed to laugh...even out loud when doctors are blatantly uneducated . You'll get your answers!!! At least your GP is educated enough to know about Celiac and how to diagnose.

[ravenwoodglass]

Can this get any crazier - I don't know whether to laugh or cry?

So I saw GP this evening - boy was I nervous. He looked at the gene test result and said that he had never heard of diagnosing by gene tests before and personally he thought a diagnosis should be based on symptoms and reaction to the gluten free diet alone (who cares about the silly tests). He thought the GI had probably looked into this too much. I showed him the test results and he said that I definitely have the 'coeliac gene' and it is baffling that the GI made the comments that I couldn't get a food intolerance (he then took a photo copy of my results for his records). He noted my antigen tests were really low but agreed with me that unless I had been on a high gluten diet (I have barely touched gluten rich foods in 4 years), this is irrelevant. He basically said that the most sensible thing for me to do was to keep a gluten free home, let the kids have fun and enjoy food and if they are at a party and want to eat the cake - just let them. Only by these mistakes can I know for sure anyway. I have to be the judge - but that it is silly to take it all too seriously, celiacs is very common!! and this is not a life threatening diagnosis. He phoned the GI and left a message. I reminded him of one daughters diagnosis of IBS from him and her ongoing tummy aches and nausea and he said "oh maybe your kids are showing the signs already". I actually left there feeling pretty good. GP said gluten free diet was by far a healthier way of life anyway. My problem is that we are going on a big trip to other side of world in a few days (did I mention I am in Oz), we are going to wedding and I am stressing over food.

So driving home with kids half hour later. Girls want to know what doc says and I tell them that yes gluten gene is in our family and it is up to them if they eat gluten foods or not. Then phone rings. It is GI!!!! He has just got message. Hasn't spoken to GP yet but is really sorry that he has confused me so much. He explained that he had thought he found a tiny patch of VA on capsule endoscopy (funny how he'd shown me patch'es' - but anyway) but on reviewing the film a 2nd time he concluded that as it was in the same area as where he took the biopsies from the endoscopy (last year) and they had been clear, it was unlikely. And as my blood work shows I have no chance of having a 'wheat intolerance' the conclusion is that this was just a tiny thing that really means nothing and is irrelevant!!!

He asked me how I was, I told him "I'm really feeling great actually" (yeah right!!) and thanked him for being so considerate to call me back (yeah after calling his office 3 times last week) and that I totally understood and am pleased he cleared it all up for me. Really I won't be bothering him more about this (because I won't be bothering him about anything anymore, I'm done with doctors).

So I will see my friends doc tomorrow for results of more blood work and another iron injection. No doubt he'll bang his head through the desk again in disbelief. Then off on my hols and when I get back GP said he would like me to make regular visits to check on my iron, which he is sure will improve on a gluten free diet, as will many other of my ongoing symptoms!!!

Okay the tally = 4 doctors - GI, Psychiatrist, friends GP with special interest in gluten intolerance, my GP

3 Docs figure I should be on gluten free diet and I have a celiac gene

1 Doc thinks I'm wasting my time and have no chance of having a food intolerance in my lifetime!!!

Lets just call this my little test - now where's the positive!!!

Your GI has been outvoted 3 to 1. I would consider myself diagnosed. Since you, I think, are somewhere where you can get reimbursed or a script for gluten-free food perhaps the GP could give you the 'formal' diagnosis in your records.

[Smarts]

Your GI has been outvoted 3 to 1. I would consider myself diagnosed. Since you, I think, are somewhere where you can get reimbursed or a script for gluten-free food perhaps the GP could give you the 'formal' diagnosis in your records.

I don't know about reimbursements here - I'll ask the doc tomorrow - but everyone is reluctant to formally diagnose me. My GP said it just wasn't important.

vbecton - your story sounds like mine. I've had my GP for 14 years since I first arrived in this country and he is a really nice man, not at all patronising - but these days I do find him a bit vague. I mean he would only need to look over my own history of depression, Bipolar, migraines, reflux, IBS, weird skin rashes, history of chronic fatigue. He was the first doc to take me seriously when my 6 month old baby was chucking up out of her nose after each meal and screaming to high heaven. He is the same doc, who when I complained earlier this year that same daughter now 9, keeps being sent home from school because she is still feeling sick and her tummy hurts diagnosed her with IBS. But at todays appointment he seemed to have forgotten all that. But his calm reassuring manner and holistic approach was refreshing.

Why is it so damn hard to get a stupid diagnosis?

Spoke to my Mum tonight - aaaarghhhhhhh........ a lifetime of IBS, hypertension, strokes, diabetes, cancer, thinning hair, cracked ridged nails, rotting discoloured teeth. Her doc reckons the new mysterious rash that has just appeared could be cancer. Mum has had 6 months of diarrhea after her hip just cracked in half. She puts it all down to bad luck. As for the gene - well it couldn't possibly come from her side, and my Dad is never ill, so she doesn't know where I got it from.... the milkman I wonder?

[ravenwoodglass]

I don't know about reimbursements here - I'll ask the doc tomorrow - but everyone is reluctant to formally diagnose me. My GP said it just wasn't important.

The 'scripts' for gluten-free food mainly apply to folks in, I think, the UK and perhaps other places in Europe. In the US we can do a write off of the difference between gluten free food and regular as a medical expense but your medical expenses need to be really high and it is a lot of paperwork and very complicated. If your in the US your tax guy would be the one to ask.

[nora-n]

I looked at your gene test again, and some labs do not do the full test to differentiate between DQ2,5 and DQ2,2, but they do it the other way around.

They reason that if the 05* alpha chain is missing, but the 02* beta chain is present, you have the 2,2 gene (which is celiac prone, but to a lesser degree)

There have been several symptomatic peole here with DQ2,2.

Other labs test for 0201 or for 0202 in the beta chain to differentiate.

I guess the 02* and 05* way to test will pick up some with half the gene, the 05* alpha chain, found in DQ7, because the 05* alpha chain is somewhat celiac prone too.

But 2,2 does not exclude celiac, either, they are just rarer.