Gene Test Results - One Positive One Negative

[nickydroo]

My 5 year old daughter has consistant loose stools and took her to the Dr - did a series of blood tests which show low IGA levels - We then got a gene test with the following results

DQ81*02 pos .302 pos

DQA1*05 neg

Does my daughter have coeliac disease - or does she need a biopsy?

If anyone could shed any light on the situation I would be most grateful

Nicky

[gffamily]

Nickydroo,

I'm sorry that your daughter is sick, (I have a five year old daughter too who was diagnosed with gluten sensitivity last year after she became very sick.) It can be very scary, and frustrating trying to sort through all of the inconsistent information out there.

You've come to a good place though. The people on this site are so knowledgeable, and viewing their ideas on things has helped me alot.

About your daughters gene test results. Having the DQ8 gene means she has one of the main gene's associated with celiac's. This is not a diagnosis, just saying it's a possibility. Given the fact that your daughter is ill though, it seems a distinct possibility.

Moving forward I think you have a few options:

You could bein a gluten free diet and see if the diarhea goes away. If it does, you have your answer.

You could take her to a GI doc, who will probably recommend an endoscopy. This is an outpatient proceedure where samples are taken from the lining of the digestive tract. If damage has been done to the villi, (which absorb nutrients), then that, together with your daughters symptoms, gene testing and family history may be enough for them to give a diagnosis of celiac's. Sometimes docs want you to try the gluten free diet, and if symptoms improve then a diagnosis is given. ***It is important that your daughter continue to eat gluten before the proceedure, if this is what you choose to do. If she is gluten-free then the gut can heal, and prevent an accurate diagnosis.***

My daughter had this proceedure done. It was scary for her, (and us), because she had to be put under. Then her results came out "negative" for celiac's because damage was not visible. (some people will say that there is no such thing as a negative result - just inconclusive. I agree.) Since that time, I have learned that young children and those who just haven't been ill as long may not have damage yet. Also, sometimes damage is present but may not be visible under a microscope. Finally, sometimes a person is affected in other ways, such as neurologically, or with a skin disease.

There is another option. My daughter was still very sick, and we were baffled and upset by the GI doc's recommendation that she just eat "gluten-lite". (Why would we continue to give her any of a substance that was making her sick??? I later found out that the reason the doc wanted her to continue eating some gluten was so that in a year a new scope could be done, and a diagnosis could be given at that time because there should be enough damage. Ludicrous!!!!)

Anyway, on this site I learned about Enterolab, which uses stool samples to diagnose gluten sensitivity. (They do not diagnose "celiac" because damage to the villi verified by a scope is part of the definition of the disease.) We ordered the tests and she came back with 2 copies of DQ1, which is associated with gluten sensitivity. [We also ordered tests for other foods because we suspected a problem with casein (milk protein) and soy; both of which came back as sensitivities.] We went gluten free, (and casein and soy free), and my daughter is well again!!! No more belly pain, weight loss, fatigue, incontinence or diarrhea!!!

The only down side I can say about the Enterolab thing, is that many docs don't place a lot of stock in the results. But, at least in my daughters case, the docs haven't been able to argue with the improvement she has made, and just seem to be happily surprised that this route worked for us.

Well, I hope this helps you. I hope you write with any other questions or concerns you have. As I said, I think the people on here are great.

I wish the best for your daughter and your family. And on a positive note, know that you and your daughter are on the road to wellness!