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A Little Help Understanding My Children'S Results Please?


Quasior

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Quasior Rookie

Hi, trying so hard to get some sense out of my doctors! I finally just asked them for the results so I could post here I've been told by one doctor there is positive results and another said negative!! I should also say I do have Celiac's but my bloods have been tested Iga ones, one time came back positive, another time negative.? confusing, anyways, all of my children have various symptoms, some worse than others (my live is so much more worth living now I'm gluten free!!) But now its the stress of trying to get some sense from the doctors. I would love, ideally, to have some back up knowledge from these boards to know what I'm arguing for with the peds at the hospital, as I have two children waiting the next level of care from the specialists. Thanks in advance!

Daughter, 10, Celiac Tests:

Gliadin Antibodies IgA 3 Units (<20)

Tissue Transglutaminase IgA Abs 1 U/ml (<11)

Tissue Transglutaminase IgA Abs 5 (<11)

DRB 3/4/5 DQB1 DQB1*02pos.

BPB1 DQA1 0302neg DQA1*05pos

Symptoms: GI issues, overweight, starving all the time (even though we do feed her enough!), complaints of achy bones, emotional issues like extreme depression/wild mood swings.

Son, 8, Celiac Tests:

Gliadin Antibodies IgA 1 units ( <20)

Tissue Transglutaminase IgA Abs <1 U/ml (<11)

Tissue Transglutaminase IgA Abs 2 U/ml (<11)

Clinical notes say the results have been amended, whatever that means!

DRB 3/4/5 DQB1 DQB1*02pos.

BPB1 DQA1 0302neg DQA1*05pos

He has had diahhrea for a long, long time. Aching bones, very thin (but above average height), tired all the time with huge dark shadows, IBS symptoms like wind pain often.

Son, 7, Celiac Tests:

No results yet

He had stomach complaints but rarely voices them (he's the suffer in silence kind of little guy). He's had a very badly broken leg at age 5 (well a week off his birthday that year), some concerns about calcium deficiencies as it was a very difficult to get break (running down a hill this kind of break is usually related to high impact like car accident/ski injuries).

Son, 4, Celiac Tests:

DRB 3/4/5 DQB1 DQB1*02pos.

BPB1 DQA1 0302neg DQA1*05pos

I have no copies yet of his other tests. He has been the worst by a long way: all the classic symptoms. Currently eating no gluten and in the 4 months he's been off it he is nearly a normal boy (but he's going to have to go on the gluten challenge now).

Daughter, 2, Celiac Tests:

DRB 3/4/5 DQB1 DQB1*02pos.

BPB1 DQA1 0302neg DQA1*05pos

Her other tests have not been preformed yet. She has been extreme but for a shorter time frame. Diahhrea for months, to the extent she had to be hospitalised due to dehydration. Often tender around her stomach/nappy region. She is very thin but unlike 4 yo son does not bloat. Her diahhrea has been green and orange at times. While she began life above the charts in height, after eating solid food has dropped fairy steadily to being 10 percentile or even below the chart!

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nora-n Rookie

all of the children are positive for HLA DQ2, check it out on the wikipedia page for HLA DQ and DQ2 page (ther are several DQ2 pages but you can follow the link from the HLADQ page for ease)

and taht is the main celiac gene.

It does nto say if they ahve two copies each, or just one, but if one of the parents had one copy of DQ2, and the other none, only two of them should have had DQ2 by normal chance.

Looks like one of the parents has either two copies of DQ2, or both parents have one or more copies, increasing the risk of celiac in the children.

The blood tests were negarive, but only the IgA versions were done.

I suggest asking to get the IgG versions of all the tests done.

Looks like the IgG version of the ttg test was done but ther was a typing/spelling fault.

'

In early celiac, pecially in children, the antigliadin IgG might be the first one to rise.

The celiac blood tests are gauged so they are late to show uop positive, they are designed to only be postive afer there is a lot of damage....maybe you are just a bit early in the course of the disease....

(that is why some turn to enterolab since those tests are designed to pick up early damage in the gut, but the are not diagnostic for celiac and doctors usually do not recoginze them as valid) (the enterolab gene tests, done by the american red cross, can tell you how many copies of the genes they have. If they ahve two copies each, theya re very much at risk for celiac.)

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Quasior Rookie

Thanks for the reply Nora, I wasn't aware of the other tests I could ask for so I will definately be asking for those. the IgG one, as for the copies of DNA strands, I'll check out Wiki because that is a bit confusing.. I have one gene that is positive but the children have both - at least all that have been tested, and my husband has been tested but I'm not sure of his results yet. There certainly wasn't any indication on the tests about that.

I am fairly certain this will help and I am so happy you were able to give us some help, if to give our children a decent pain free life is our top priority, I certainly don't want them suffering like I have if I can find a way !!

Thanks again, Julie.

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ravenwoodglass Mentor

I don't have a lot to add to Nora's reply. It sounds like at least the 4 year old is doing well on the diet. Why are you going to make him do a challenge? It seems his body has given you the answer. Are any of the other kids gluten-free? Do be aware that they don't have to go on a challenge for Enterolab testing. As stated they do not diagnose but they can tell if they are making antibodies which is a really good idication that they need to be gluten free.

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nora-n Rookie

The DQA1 0501 and DQB1 0201 are in linkage disequilibrium, which means they like to hang out together.

So to explain, 0501 in the alpha chain and 0201 in the beta chain stick together and they are one DQ2 gene.

The test did not say if they ahve one of these DQ2 genes, or two copies.

You have one copy, it sounds like.

If you only have one copy, then the fater must have at least one copy too with such results.

If you have two copies, the children must have one copy each, or more if father has a copy or more.

I think the lab did not bother to tell you how many copies there are, they just reported the beta and alpha chains and made it sound they found some random things, when in fact they found DQ2 which alpha 0501 and beta 0201 means.

Some people have contacted the labs and found out that the lab knew all teh alpha and beta chains, but did not report them....probably to not to confuse the doctor.

the reason the lab reported the alpha 0501, was to find half a DQ2 gene in case someone only had half the gene, which is a celiac prone gene too. They have started to do that a year or two ago. Before that they used to miss the half DQ2's.

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Quasior Rookie

I don't have a lot to add to Nora's reply. It sounds like at least the 4 year old is doing well on the diet. Why are you going to make him do a challenge? It seems his body has given you the answer. Are any of the other kids gluten-free? Do be aware that they don't have to go on a challenge for Enterolab testing. As stated they do not diagnose but they can tell if they are making antibodies which is a really good idication that they need to be gluten free.

Ok, you have helped in your reply... The reason why we wanted a diagnosis for my 4yo was really for his father's sake (and his future teenage self), if we had the positive proof my son wouldn't rebel later on and say "oh I'm not eating gluten-free anymore no one even knows if I am or not?" plus my husband is reluctant, but of course he sees the positive outcome of his and my gluten free changes. No they told us to keep all the others on gluten for further testing. I am in fact dreading putting him back on gluten (and myself - I won't do the challenge considering how well I am compared to a year ago), because I don't want him to go backwards. At this stage he is always questioning my, either way. Such as "will my tummy always be gluten free mummy?" or a more common one, "does that have gluten in it - I don't want it." I don't even know IF I could put him back on gluten as he won't eat it anyway. Of course, he never gets offered gluten at home anymore but before my mother got used to the idea he actually questioned her and refused to eat something at her place - he certainly remembers the pain now! Of course, I could let him do the challenge when he's older and it's his choice, I'm more comfortable with that then reverting. My husband wants me to do the challenge too (he's much more scientific than I am - needs that quantifying truth I guess).

Enterolab testing - is that the challenge/biopsy? If so then all my doctors have insisted that they all be tested and go through the challenge if necessary because "it's the gold standard in diagnosis" it's like they are quoting text books! I don't think any of the doctors or Paeds have had any real experience with it so far. My youngest daughter is the exception (as she has been admitted to hospital because of all this) in who we get to see, next time instead of a doctor in training to be a paed we get to see a full paed which means to us at least we might get somewhere further. You see, even as bad as sounds, we've already been through and been stone walled when they decided my 4 yo wasn't bad enough to do anything about! Thats when I demanded my GP give him a DNA test and now as that was positive they are taking him on again. Really, it does seem I am in a backward little place when this sort of thing happens. (I live in Tasmania Australia) Raven had tested positive at that stage (but I don't have all the actual results) for an anti-immune disorder (not a specific one though), anemic, allergies. It was very much a bad time in our journey to be told that it just wasn't enough to go further in testing. After we got the DNA test back from our GP she told us to put him on the gluten-free diet but refered him back to the hospital.

The only reason why they are taking notice of my youngest is the extreme dehydration and extreme weight loss since Novemeber (she lost a full kilo in a month at two!)

Yes, I'd love to just take everyone off the poison but my husband wants the full diagnosis. It's frustrating! Also we're acting on what the doctors have suggested so it's present in their systems when testing. At this stage it's taken 2 years from when my 8 yo started complaining about pain and constant diahhrea til today and still not fully diagnosed any of them. I was misdiagnosed 11 years ago with IBS but they ran the wrong tests on me only a colonoscopy not the biopsy (as I was overweight from gaining weight with thyroids) - he made the call based on my wieght - this could have been sorted way back then.

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Midwifemama5 Newbie

I understand family wanting a full, official diagnosis....it's the same here. Nora helped me understand mine a bit, but I'm still confused especially how DQ5 is also DQ1....so I'm not any help understanding the genes themselves....

I haven't done all my children yet, the cost would be ridiculous to test 5 children right now...so I wanted to really geta good understanding of my gene types and what the implications are for it...I think wikipedia is very difficult to understand and that's from a nurse's perspective! I understand how you can be confused!

I think that the companies doing these tests need to make it easier to understand, but they don't. And they don't seem to answer phone calls or emails very well either!

I did an extensive search through my school (i'm in a masters program and have access to over 8000 journals) and couldn't find anything definitiveabout gene typing or anything that broke it down to make it easier to understand. I am starting to wonder if maybe the genetists don't really understand them either because if they did they would be able to break them down to understandable levels.

One of the things I tell my students ( I teach nursing) is that if you can't break down something to explain it to someone else you don't really understand it, and that's what I have been seeing in the literature (and even wikipedia, for example I tried to understand how DQ5 was the same as DQ1, but couldn't find an answer, it seems like just rambling in some spots).

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GFinDC Veteran

Enterolabs is in Texas, USA. They do tests for antibodies in stool. They say the antibodies for gluten can be detected for up to 12 months or more after going on the gluten free diet.

Open Original Shared Link

The gene tests are interesting and can rule you into the group of potential celiacs, but they don't prove you have celiac.

The EGD biopsy is not a perfect test even when eating gluten. They can only take samples from the beginning section of the small intestine and there is lots more of it that could be damaged than the beginning.

The blood antibody tests are supposed to be pretty reliable for positive results, but negative results may be wrong up to 30% of the time. So doing a challenge and getting a negative result does not mean 100% that the person does not have celiac.

The tests available are just not 100% accurate for the most part.

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Quasior Rookie

I don't pretend to understand the DNA or the sequencing but I thank you Nora, and Midwifemama for attempting to explain. Maybe genesists don't really know either, it is relatively a new thing isn't it? For this reason I doubt the doctors have any real idea either, as they go on these journals and theories too. That does make it difficult for everyone else who are actually suffering to get a clear diagnosis. I think that this area is still being discovered and that many people are undiagnosed or are finding it more difficult to get definitive answers as its all clouded and confused on different levels. But this is a modern western medical world view I think, hopefully it will get easier to pin point when they get more studies done in the area.

If it was the simpler method long ago the diet was enough as a diagnostic tool! And dramatically less stressful too.

Thanks for all of your help, I think I'll have a better idea of how to approach the doctors when I finally get to go see them about it all.

You have 5 children? Me too obviously. Fortunately it's free but the unfortunate part of it is it takes a long long time to see doctors, and there is less quality in care unless you are private (my guess its similar to being insured or not in the states)

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Quasior Rookie

The tests do not seem as definitive as they could be, do they? Nothing seems 100%, and yet the symptoms are there and causing issues. There is obviously much more to the condition than the medical profession knows yet, its a grey area. Its obvious too that some doctors have more of a clue than others too.

The more into it you get, the more confusing!!

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nora-n Rookie

Hi, enterolab testing is without the challenge, as it can pick upt the antibodies up to a year after going gluten free. They also test for other food intolerances like milk and soy.

The DQ2 genes mean you and the children are very at risk for celiac, and doctors do know that.

But it is just risk.

We think it confirms the celiac diagnosis, people come here with symptoms and then the gene test shows DQ2 and then they get the diagnosis.

I have seen on other forums that people have gotten the diagnosis after equivocal blood tests and not so definite biopsies but when they tested positive for DQ2, they got the diagnosis.

I still wonder if they have double DQ2, since all of them have DQ2. Double DQ2 have ten or twenty times higher risk for celiac.

And, the irish forum had a small poll once, and they ended up with a 40% risk of celiac in families where one person was diagnosed.

(when one family member is diagnosed, they test all the others)

About why people would put their kids on the gluten challenge:

this is the way we do it in Europe, and we need a diagnosis, for follow,up, and to get the money the government gives us for celiac. Like here it is roughly 300 dollars a month, less in other places.

And so that the children do know there is a basis for why they must comply with the diet.

There are some interesting new test methods they are looking into to do tests on people who are already eating gluten free but those are only for research so far. Like the test for freshly activated T cells after a three day gluten challenge.

About the DQ1 and DQ5 question, DQ is just a nickname, and it has evolved (the nickname) and in the beginning they could not discriminate between all.

They nicknamed DQ1 (the alpha chain is typically 0101) and DQ2 and DQ3 and DQ4.

Later DQ1 was split into 5 and 6 and 3 into 7, 8 and 9.

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Quasior Rookie

Thanks Nora,

I hope we have the Enterolab test here! That would be good, I know they are very sensitive to cow's milk, only two of my children seem to be able to use it regularly - and even they have been known to miss it for a couple of weeks here and there. If we gave my youngest daughter any at all she would be sore and blistering all of the time instead of barely keeping it at bay...

SO my hope is they'll have that test, going on the fact that I'd hate for them to suffer any more than necessary til diagnosis. Going over the test results again it says on the bottom they state patient is at risk factor of 22.9% on all the results we've gotten back at this stage. Then they give another set of generals about all kinds of genes and numbers like this DQB1*02 and typing in the general population versus the genes of most celiac portion of the population. Background info it's titled as. As far as I can see there isn't any indication of the copies of DNA, but yeah, all children have the same results so I'd suspect as much - My partner and I have one gene positive each, but don't have the results, will have to get those off the doctors.

I just hope we can get a paed who knows what they are doing and/or will listen to us! I'll ask for the Enterolabs, I think I'll also just print out these pages to bring along if you don't mind!

Thanks so very much, Julie.

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