Genetic Testing: Positive For Celiac ... Now What?

[BrooklynFamily]

Hi.

Not sure this is 100% the right board for this question, but i post here most often since I have a 3-year old son with Celiac Disease. Anyways, here is my question and I hope you can help me out....

My son was diagnosed with Celiac Disease a little over a year ago. He has been gluten-free since then and is doing amazingly on the new diet. At the time of his diagnosis, both my husband and I had the antibody test/Celiac panel done on us and the tests showed up negative. A year later, we finally got around to doing the genetic testing on ourselves and as it turns out, we both carry the gene for celiac disease.

So, what does that mean now? Since both of us carry the gene, does our 10-month old daughter have a higher risk of developing the disease than if only one of us was carrying the gene? How often should we do the antibody test? Once a year or every three years? And what about our parents and siblings? Should they now do the genetic testing or simply have the antibody test done more frequently?

I'm going to call my son's pediatric gi doc back and ask these questions as well, but just wondering what you all have learned from your experiences. Also, I've noticed that many posters know the actual results of their genetic tests (DQ2/DQ8, etc), should I find that stuff out as wellmor is it enough to just know that I tested positive? Does it make a difference or give me added information to know those specifics?

Thanks!

[lilu]

Hi there.

I would definitely call your doctor back and ask that they send you a copy of both of your test result reports. Once you have the results in hand, you can post them here on the forum and get some help with interpretation.

Because both you and your husband each carry at least one high-risk gene, that does mean that your daughter is at increased risk as well. If each of you have only 1 risk gene (with a second gene that's low risk), then your daughter has a 25% chance of having no risk genes, a 75% chance of inheriting one or more risk genes. If either of you have two high risk genes, then your daughter 100% has at least 1 high risk gene. If only one of you had one high risk gene, then your daughter's likelihood of inheriting a high risk gene would be 50%, with a 50% chance of no high risk genes.

(Sorry if too much detail, I was a total anatomy and physiology geek in high school... ohhh so long ago).

Because both of you tested positive genetically and you have a child with active disease, this also means that you will want to notify both sides of the family and let them know that testing is recommended. Of course (as many here know all too well) it is then up to each family member to decide if they want testing.

Hope this helps at least end the confusion.

[T.H.]

So, what does that mean now? ... How often should we do the antibody test? Once a year or every three years?

I think if I was in that situation, I would keep my daughter off of gluten until she was about 3 years old (unless you just want to keep it permanent until she's older). Three is the age that is recommended to introduce problem foods for children in families with severe food allergies, because at 3, they can usually verbalize better situations like 'my tummy hurts,' or 'I feel bad/weird, mommy.' I think celiac disease, while not an allergy, might have similar issues.

Before then, there can be problems that you won't be able to detect, the baby can't tell you, and tests are notoriously less effective for infants and toddlers because they get damage differently than adults.

Just personal preference, if after a gluten trial my child had no reaction, I'd probably test every year until puberty was over, and then suggest testing every 3 years or so.

I'd do the testing every year because the damage can be asymptomatic, but can make a big difference in a growing child. After puberty there is less of an issue, unless a woman is trying to conceive, and then I'd get tested right before then and potentially during the pregnancy, too, and right after, as the hormones can trigger the disease (it's believed. I don't believe it's been proven specifically).