Shari’s Story

A Personal Story About the Importance of Pre-Conception Testing

In every corner of Judaism, both culturally and spiritually, we are commanded to “celebrate life.” That was precisely my intent in the spring of 2008 as I (and my husband Stuart) prepared to start a family. It was an extremely exciting time for us and, like most couples, we did not think about the risk of Jewish genetic diseases.

Once we confirmed our pregnancy, we were thrilled about the prospect of expecting our first child later that fall. As a matter of course, during our (routine) eightweek check-up, my OB/GYN asked for permission to run the “Jewish panel” blood test. Of course, we agreed. When my results came back as a carrier for Tay Sachs disease, we knew that Stuart needed to be tested. Soon after, Stuart’s results came back and indicated that he, too, was a Tay Sachs carrier.

Now a bit more than just concerned, our doctor immediately referred us to meet with a genetic counselor to further understand our risks and options and to schedule an appointment for an amniocentesis. Already now 16 weeks along, this was a nervous time for us as a young couple, as this procedure’s results would be able to accurately predict whether we had both passed on the autosomal recessive gene mutation. More specifically, this is “a pattern of inheritance in which disease only results when an individual inherits two gene mutations (one from each parent) for a particular disease. If both members of a couple are carriers of the same gene mutation, there is a one in four (25 percent) chance with each pregnancy for a child to be affected.”

The test results took about three-and-a-half weeks (so now our pregnancy was 20 weeks along) and it was confirmed, much to our horror and disbelief, that our unborn baby was indeed unfortunately affected with Tay Sachs, a curse that leads to certain suffering and inevitable death, usually very early in life. We made the unbearable decision to terminate our pregnancy and not bring an affected Tay Sachs baby into the world. As a result, we are undeniably determined to raise awareness of the numerous Jewish genetic diseases that exist, most of which are still the subject of research to find cures.

After the termination, a friend of ours introduced us to the Victor Center for the Prevention of Jewish Genetic Diseases, an organization that was founded by Lois Victor. Mrs. Victor lost two children to a Jewish genetic disease and is passionate in her mission to ensure that no family endures the heartache of a preventable illness. Through her leadership and support, the Victor Center serves this important purpose of raising awareness and offering clinical expertise in the areas of genetic screening, education and counseling. It is so vital for all those embarking on the adventure of family planning (not just those of Jewish ethnicity) to know their risk and be well-informed about genetic carrier screening. Most couples probably do not realize that insurance companies vary in their coverage for pre-conception screening and some may only cover the test once you are already pregnant, but as you have learned, this can be too late. I have been volunteering, sharing my story, and encouraging as many people as I could to get screened before they were ready to start their families.

I have worked in the non-profit Jewish sector for over 15 years and I am proud to announce that this past November 2018, I became the Senior Outreach Associate for the Victor Center for the Prevention of Jewish Genetic Diseases. The National office for the Victor Center is now at Nicklaus Children’s Hospital in Miami.

If you or someone you know needs to be screened please connect them with the Victor Center for the Prevention of Jewish Genetic Diseases. More information can be found by visiting www.victorcenter.org.

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