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Wondering About Genetesting And Celiac Disease

SolveigB

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SolveigB Newbie
SolveigB
Posted

I'm norwegian, so please excuse my poor english.

My almost 9 year old daughter have classic celiac disease symptoms: diarrhoea, a lot of gas, low iron in blood and the latest symptom blood in her stool. The problem is that the bloodtests on celiac disease is perfectly normal, we have even done the genetest and it came back negative, almost zero possibility for celiac disease. We have also testet for lactose intolerance, chrons and other bowel diseases.

Are there anyone else who has testes negative on the genetest, but still got a postive biopsi? I am preparing to demand a bowel biopsi, and I want to have something to pu behind my demand.

I appreciate every answer and story you can give me, and I hope you are able to understand me. I have i dictionary but it lacks a lot in the medical words department.

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Benshell Explorer
Benshell
Posted

my 8 year old has celiac, was diagnosed when she was 5. We have not had the genetic tests done in the family (too expensive $), but we've all been tested for celiac and no one in the family has it (parents, grandparents, aunts). I know there is a genetic componant to celiac, but not always.

My daughter has a thyroid problem and once you have one auto-immune disease, your chances of having another go up dramatically.

Do not rule out celiac just because there are no genetic markers. Have the blood test done for celiac and go from there. Good luck.

Cara in Boston Enthusiast
Cara in Boston
Posted

My 6 year old had some "inconclusive" blood tests so we were sent to a pediatric GI for further testing. He did the genetic test and my son was found to have a "very low" risk. That doctor said he did not have celiac disease. We then went to a celiac specialist at Children's Hospital of Boston and since she couldn't figure out why his initial blood tests were so odd, she did an endoscopy and he most certainly had it. I have since tested positive as well, but no one else in the family has it.

When I asked her about the genetic test, she (a celiac specialist and researcher) said the test was not particularly helpful because there are always exceptions. People who test positive for the genes may not ever get celiac disease and people who don't have any of the genes can still have it. She doesn't even use the test any more.

You can also have all the symptoms of celiac disease but simply be gluten intolerant. All tests, including biopsy, will come back negative but you still should not be eating gluten.

My blood tests were positive, but my biopsy was negative. I "technically" have a diagnosis of "gluten intolerant" while my son (positive biopsy) has a diagnosis of celiac disease. Both require the gluten free diet. We both feel so much better being gluten free.

I would not rule anything out. If, after you have done all the tests possible, you still are not sure, just try the diet and see if she feels better. Be strict and be sure to give it enough time. We felt better right away, but it wasn't until a month or so that every symptom was gone.

Good luck to you.

Cara

SolveigB Newbie
SolveigB
Posted
  • Author

Thank you for answering.

I have talked to our doctor today, and we decided that I call him on wednesday. Our girl is having an x-ray with contrast on tuesday, and the pictures will be ready wednesday morning.

I would still like to have a biopsy done, because of the blood in her stool still happening from time to time. The blood has to come from somewhere, and if it's not due to celiac disease, I would like to know where and why.

If all tests are negative and the biopsy too, we are trying milkfree first then gluten.

researchmomma Contributor
researchmomma
Posted

I just wanted to jump in here and tell you my quick story. I say avoid the genetic testing until you can get a biopsy. If your child doesn't have the genes, they won't want to do the biopsy.

My daughter has all the symptoms of Celiac including steatorrhea and failure to thrive but our Celiac Specialist would not do a biopsy because her blood work was negative. So she ordered a gene test and said if she doesn't have the genes then she doesn't have Celiac.

She later said that isn't true but now it is too late. We put her on a gluten-free diet and one by one her symptoms are going away. In fact, her hair seems thicker, her dark circles have gone away and her moodiness and crankiness have improved too.

She is diagnosed as Non Celiac Gluten Sensitive. It sure would have been nice to have that biopsy to rule it out and see if there was anything else causing her issues.

BTW, your English is GREAT!

Welcome to the Boards and I hope you get some answers soon.

SolveigB Newbie
SolveigB
Posted
  • Author

I just wanted to jump in here and tell you my quick story. I say avoid the genetic testing until you can get a biopsy. If your child doesn't have the genes, they won't want to do the biopsy.

My daughter has all the symptoms of Celiac including steatorrhea and failure to thrive but our Celiac Specialist would not do a biopsy because her blood work was negative. So she ordered a gene test and said if she doesn't have the genes then she doesn't have Celiac.

She later said that isn't true but now it is too late. We put her on a gluten-free diet and one by one her symptoms are going away. In fact, her hair seems thicker, her dark circles have gone away and her moodiness and crankiness have improved too.

She is diagnosed as Non Celiac Gluten Sensitive. It sure would have been nice to have that biopsy to rule it out and see if there was anything else causing her issues.

BTW, your English is GREAT!

Welcome to the Boards and I hope you get some answers soon.

We have already done the genetic test, and it came back negative for both of the genes that "everyone" with celiac has. I was told that the chance of her having celiac disease without these genetic markers is less than 1%.

I will not give up, and I will go as far as to demand a scopy (gastro and colon). The blood comes from somewhere. The doctor says it most likely comes from a tear in the colon, but I want them to be sure. My daughters Ferritin levels has come down from 21 to 14 over the last 2 months, so she is loosing iron.

I have started a fooddiary, maybe we are able to see a connection between food she eats and diarrhoea and stomach aches.

Than you very much for answering and welcoming me.

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