39 In Family

The JScreen Results

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So a while back I wrote about why, even as an interfaith couple, it was still important for us to undergo genetic testing as we plan for a family. We opted to go with JScreen for our testing. Two years ago I tested through JScreen so this time we tested J. We got his results back.

About three weeks after we sent the test back, J got an email. It was a genetic counselor ensuring us everything was fine but they had some results to go over with us. Through their portal, we schedule a call. It was super easy to set up.

Since I tested two years ago, the counselor had both of our test results pulled up to compare. It turned out that J had tested positive for 21-hydroxylase-deficient congenital adrenal hyperplasia.

According to JScreen “21-hydroxylase-deficient congenital adrenal hyperplasia (21-CAH) causes a wide variety of symptoms due to abnormal hormone production. Females may have ambiguous genitalia and some masculine features. Both males and females can have abnormal growth and development and fertility problems.” J carries the non-classic version, which has milder symptoms. It is a treatable condition and some people with the non-classic version never know they have it. Everyone hopes that they are totally clear of ever passing anything on. But, if we had to have carrier status in something this was a better case scenario.

All of that is really confusing and it’s a condition that we’d never heard of before. But, our counselor laid everything out in understandable and approachable terms for us. She had all the results and testing processes written out and sent to our primary care physicians to ensure that we and our medical providers were on the same page.

In 2015 when I took my test, JScreen tested for 80 different genetic conditions. Now they test for more than 200. When I took my test, this condition was not part of the panel. It doesn’t appear in my results. We have no information if I’m a carrier or not. Our counselor advised that I retest at some point when we’re ready to have children. Since their panel is ever growing, by waiting I will be tested for more conditions.

To me, the best part was getting to have an actual human expert on genetics to read us the results of the test, answer all of our questions, and help us make the next step. We didn’t just get a sheet it was up to us to analyze. Our counselor took the time to explain everything from the probability of having a child with this condition to asking questions to ensure that she made the best recommendations. Since my ancestry is relatively ambiguous we decided to test based on region, since we know that. Our counselor really helped us feel in control of our future and the health of our future children. She truly made us feel like we were a three-person team coming up with the best plan for us.

Interfaith or both Jewish, JScreen is an important tool to making the best choices for your family. The work they’re doing is unbelievably important in helping parents ensure the healthiest future they can. It was such a great experience that I highly recommend people do for knowledge and peace of mind.

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