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2 Yr Old Has Gene But Blood Test Negative

sashabetty

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sashabetty Explorer
sashabetty
Posted

Well I am a bit pissed off and upset. I called the Dr today for the genetic test results, and finally got a message back, yes your daughter did come back positive for one of the two genes for celiac, but since her blood antibody test are negative, that means that she doesn't have it, but has a very slight chance that she could develop celiac later in life.

What? The whole reason that she was tested was because she presented as a "textbook case" as the doctor put it, for celiac disease. Unfortunately she was gluten free for 9 months and not on gluten for a significant length of time (a few weeks) before the antibody tests were done (because I thought and the doctor thought that she would get really sick)

Her one test (I think it was the IGA) came back borderline low so that could be why her TTG looked normal. The last time my husband talked to the doctor she said if the genetic test came back positive she would want to do an endoscopy, and now they say she's fine. I am going to get really pushy with the doctor in a minute when I get someone on the phone.

I really want to get a diagnosis for her.

Arrgh!

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tarnalberry Community Regular
tarnalberry
Posted

A recent study on the celiac.com main page showed that, unless there has been a decent amount of intestinal damage, the blood tests often are not nearly as reliable as theoretical numbers stated in the literature. You might check it out. If she'd been gluten-free for 9 months, much of the damage may have healed, and she didn't have enough additional damage for the blood tests to come back. But really, the fact that she responded to the diet is a test itself.

sashabetty Explorer
sashabetty
Posted
  • Author
But really, the fact that she responded to the diet is a test itself.

I agree, it is is compelling, but I keep insisting on a diagnosis maybe because I get tired of the perception that this is some kind of food neurosis that I am imposing on her, and I know it doesn't matter what people think, but I really want to be able to explain it with conviction and a diagnosis, maybe that can't happen but I can try.

Well as if I didn't find all of this testing to be discouraging enough! I really feel like I have to be such an advocate for my daughter to get answers because it would be easy for doctors to write it off when she comes back normal on the antibody tests.

Scott Adams Grand Master
Scott Adams
Posted

The antibody test results can end up false-negative if one is gluten-free for a time before taking the tests, this goes for a biopsy as well. One must eat gluten daily until all testing for celiac disaese is completed, normally one should do this for at least 6 weeks beforehand.

Take care,

Scott

celiac3270 Collaborator
celiac3270
Posted

I have a nine-year-old brother who also has the gene, but is negative to celiac. We did bloodwork with two different labs, with one test with one lab, two with the other or something.....so there was no chance of a lab screw up. Anyway, he, too, will probably develop celiac disease later in life.........I don't think that will be a big deal for him, though, cause he tries my gluten-free food and he likes a lot of it.

sashabetty Explorer
sashabetty
Posted
  • Author

Scott, that goes along with what I was thinking, that it was too soon, I guess I just went along with the doctor hoping we wouldn't have to keep her on gluten for that long. The only part that bothers me is how dismissive the doctor's assistant was, and she was apparently saying what the doctor told her. I am not satisfied that the tests are telling the whole story.

celiac3270, it's good that your brother knows he has the gene. In my daughters case, she was very symptomatic so I don't yet believe the negative test result.

Does anyone have an estimate on how many people carry the genetic marker for celiac disease and the likelyhood of developing Celiac if you have the gene marker?

I have had someone say to me, it's a genetic disease, if you have the gene you shouldn't consume gluten, I'm not sure if I agree with that, but I'm curious how common it is.

Thanks for the replies

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