Jewish genetic diseases

My Husband and I Are Both Carriers for a Jewish Genetic Disease. Here’s How We Had Kids

jscreen

I’m a mother. I’m a wife. I’m a daughter. I’m also a rabbi to 3,400 families. Yes, you are reading that number correctly—we have a HUGE community! So even though I am accustomed to being in front of hundreds of people, it’s daunting to talk about my personal story. What I am about to share is very personal, and until now, was completely private: I’m a carrier of a Jewish genetic disease. With that, here’s my journey, which will explain why I’m so passionate about advocating for JScreen—a national organization that focuses on education and screening for Jewish genetic diseases. Together, as the Jewish community, we can save lives.

“You’re perfect for each other! You really should get married!” You might think that our best friends said this to us, but actually, it was our doctor. He wasn’t complimenting me and my husband Ryan on our symbiotic relationship or the courtesies we showed to each other. He was talking about the fact that we were genetic carriers for the identical mutation for the same Jewish genetic disease. The only reason we knew that we carried this mutation was because of genetic carrier screening.

READ: Mayim Bialik: There’s No Reason You Shouldn’t Get Screened for Jewish Genetic Diseases

We learned that in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) was one option that would help us get around this risk and maximize our chances of conceiving a child that did not have this disease. There was some grief involved in knowing that the road would be long, arduous, painful, and quite public (not to my congregants, as we chose to not to tell anyone but family, but for the many doctors, nurses, secretaries, labs, and mail couriers who knew about our family planning).

Needless to say our heads were spinning. Our doctor explained that by doing IVF with PGD, embryos could be created and examined to detect our unique mutation, and those that were unaffected with the disease could be selected for my pregnancies.

For Ryan and me, there was no question about whether or not this was the right path for us to take to enlarge our family of two. We were going to do anything medically possible to ensure that our children were born free of a potentially devastating disease. And so we began.

READ: What Happens When You Are a Carrier for a Jewish Genetic Disease?

There was a lot of blood-work. And waiting. And money. But the time didn’t matter, nor did the expense, because in this one situation, we were actually hoping to buy health—at least when it came to this disease. When we got the news that everything was in place, and we were ready to go, we were exhausted and overjoyed.

In the end, we did IVF with PGD twice. In the first pregnancy, two embryos gave us our sweet daughter Bayla. In her IVF round, two embryos were implanted; one was a carrier, and one was free of the disease. We don’t know which resulted in our Bayla, but someday, we will have her tested and we will know if she is a healthy carrier or totally free of the gene. Our second round resulted in our beautiful twins, Asher and Sage z”l. Again, the same situation occurred; one was a carrier and one was free of the disease, and again, don’t know which was which. In a devastating turn of events, our daughter Sage passed away shortly after birth from an unrelated medical problem.

If you asked Ryan and me if we would do genetic screening and IVF with PGD again, we would both say yes without hesitation. The technology is out there, so why not do everything you can to ensure the health and wellbeing of your children? The best time to know your genetic makeup is before you are pregnant. Whether you’re single, dating, or married, now is the time to get screened. Nowadays, JScreen makes it easy—you don’t even need to leave your home to be screened, since it’s mailed to your house and uses a saliva sample.

READ: Caroline & Randy Gold on Their Daughter’s Jewish Genetic Disease & Starting JScreen

For six years we have kept our story a secret from all but a few close friends. Now, we hope that it will encourage clergy to counsel their couples to pursue genetic testing. We are proof that happy, beautiful families can be created in the most unexpected and even scientific ways. It can be done, and our children are literally living proof. If sharing our story helps other families, then it will have been a success for us and hopefully for many others as well. Then, even more miracles will be created!

For information about genetic screening and to request educational materials or programming for your congregation, please visit JScreen.org or email info@jscreen.org.

The opinions expressed here are the personal views of the author. Comments are moderated, so use your inside voices, keep your hands to yourself, and no, we're not interested in herbal supplements.

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