I’s always so much fun to put together a packet of information for a new wedding couple. They enter my office with excitement, trepidation, anticipation, and nervousness.
I assure each couple that they are in good hands, and that I will make their special day a meaningful, beautiful experience. I open up the folder of resources, and I point out each one: Common Jewish Wedding Vocabulary, a List of the Homework Assignments I will want from them, articles and books I recommend about Jewish Weddings, and information about Jewish Genetic Diseases. This last one always makes the couple pause.
“I take this part of my work very seriously,” I tell each couple. “If I don’t go over this with you, then I don’t know who will. There are many Jewish genetic diseases, both from Ashkenazic and Sephardic families, and it is very important that you make sure to get screened before you start having children. That way, you can have all the information and make the best possible decisions regarding the family that you will build together.” According to the Jewish Genetic Disease Consortium, research has shown that the best time to get tested is during engagement, and that learning about screening from a rabbi or cantor during premarital counseling sessions is the most effective way to encourage the couple to go.
I was lucky to take part in one of the first Rabbinic Training programs offered by the JGDC and the New York Board of Rabbis back in 2010. We heard from parents of children who were diagnosed with one of the many Jewish genetic diseases, and learned best practices from colleagues who promote the importance of encouraging couples to get screened. One colleague even refuses to officiate at the wedding until he sees the test results from each couple!
As Amy Spiro wrote in a 2010 Jewish Week article, entitled, “Training Rabbis to Promote Screening,” Steve Hoffman had never heard of Tay-Sachs Disease. When his eldest son, Harry, was diagnosed with the disease at 5 ½ months, he and his wife were shocked and devastated.
“We got home, and looked it up,” said Hoffman. “We found out that it was fatal.”
Harry died in 2001, before his third birthday. Hoffman was one of four parents of children with Jewish genetic diseases who spoke to a group of 25 rabbis last week, as part of a rabbinic training program launched by the Jewish Genetic Disease Consortium.
Like many Jewish couples, Steve and his wife Sharon sat down with a rabbi before their wedding. “He explained to us what was in the ketubah, our responsibilities to each other as a married couple and the importance of keeping a kosher home, that was all,” said Hoffman.
“Please,” he said, as he addressed the crowd of rabbis at the Park Avenue Synagogue on the Upper East Side, “when you sit down with couples, speak with them about genetic testing. I wish our rabbi did.”
For Ashkenazic families (from Germany or Eastern Europe), there are 19 diseases currently covered in genetic tests (and this number is frequently growing). These diseases include Tay-Sachs, Canavan, Cystic Fibrosis, and many more. Nearly 1 in 3 Jews of Ashkenazic heritage carry at least one of the markers for these diseases. For Jews from Sephardic (Mediterranean) or Mizrachi (Iranian/Persian or Middle Eastern) regions, there are 20 diseases included in genetic screening tests.
It is crucial that couples get screened before they decide to become pregnant. Usually, the woman gets tested first. If she is found to be a carrier of any of the diseases, then her partner/spouse can be tested only for those specific diseases. If both partners are found to be carriers, then a genetic counselor can help the couple determine the best way to move forward with starting a healthy family together.
If we all think back to that Punnett square that we learned in High School biology, we would understand that, even if both members of the couple are carriers, there is only a 25% chance that a child born to them would have the disease. Likewise, there is a 50% chance that the child would be a carrier, and a 25% chance that the child would be neither affected by the disease nor be a carrier. As the JGDC explains in the brochure that I hand out to each couple, a carrier couple may choose to become pregnant and test the fetus early in pregnancy. They may choose in-vitro fertilization with pre-implantation genetic diagnosis. They may choose to use a sperm or egg donor from a non-carrier person, they may choose adoption, or they may choose not to have children at all. All of these choices can be made once the couple has all of the relevant genetic information.
I am now three months away from my wedding. My fiancé, Seth, and I, are very excited to start building our family together as soon as possible. Having counseled all of my wedding couples about the importance of Jewish Genetic Disease screening, it is now my turn. I feel that same sense of nervousness that my couples must feel when they go to their screening appointments. But I know that this is one crucial step in ensuring that my family build the next generation on a foundation of health and awareness.