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jenn42

Mom's Celiac Panel Negative

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My girl goes in for her Endoscopy in 2 days to confirm Celiac. I had my blood work done last week and it all came back negative. I have no symptoms. My husband and son are having their blood work done tomorrow, both with no symptoms. If we all are negative blood work, we still may carry the gene, right? This is all so confusing. Why is she postive and we may all be negative? Doesn't a first line relative have to carry the gene, or have the disease?

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Yes. While you have to carry the gene to get the disease, just because you have the gene does not necessarily mean you will develop the disease (although you will always be at risk). My sibling and I both tested positive for the disease but neither of my parents did. There are a lot of health problems related to celiac on my mom's side of the family so I imagine she is the one that passed on the gene even though she has not developed the disease. I was surprised she didn't have the disease.

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Carry the gene, yes. Have the disease, not necessarily. Remember that 30% of the US has a celiac gene, but only 1% has celiac. The incidence of celiac is rising so your DD may be the first in your family unlucky enough to have the autoimmunity.

It's also possible that she got a genetic double-whammy. If you and DH each have a gene, she might have gotten two copies.

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Also keep in mind that just because you are negative now, it does not mean you won't develop celiac disease later. I was diagnosed at age 44 and have had symptoms for only about 5 years. I only got the test because my son was diagnosed with it.

My younger son and I tested positive, my husband and older son tested negative. I am fairly certain my husband's mother also has it (but at 83 she is not very interested in changing her lifestyle) so I think it is on both sides of our family. Our doctor suggested that our older son get tested (by blood) every two years - sooner if he starts showing any symptoms - so we can catch it early if it ever develops.

Cara

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