‘Hero’ contest winner has high hopes for genetic testing of Jewish couples

By Jacob Kamaras, JointMedia News Service

Before getting married, Randy and Caroline Gold did “everything right,” Randy recalls. They proactively asked both of their doctors to test them for Jewish genetic diseases.

The problem was, Randy was tested for just two diseases, and Caroline for those same two diseases plus six others. The Golds didn’t know that there are in fact 19 known preventable Jewish genetic diseases, nor did their doctors or their rabbis.

After the birth of their second child, Eden, the Golds noticed she wasn’t meeting milestones, such as rolling over and sitting up. Eden was eventually diagnosed with Mucolipidosis Type IV-a Jewish genetic disease whose symptoms include delayed psychomotor development and various ocular aberrations-in August 2009.

While Eden now receives 15 hours of therapy daily, the Golds not only strive to give her the best care possible, but they are also working to create what Randy calls a “new standard in the Jewish community” for genetic testing. Randy recently received the third annual Jewish Community Hero of the Year Award from the Jewish Federations of North America (JFNA) for his efforts in founding the Atlanta Jewish Gene Screen.

Randy’s organization educates rabbis, doctors and Jewish couples on the importance of genetic counseling and screening for preventable and life-threatening disorders commonly present in Jewish families-with the long-term goal of having screening for all 19 Jewish genetic diseases as a routine medical practice for Jewish couples worldwide.

The Jewish Gene Screen hopes to expand its programs beyond Atlanta and will get a huge boost in the form of Gold’s $25,000 “Heroes grant” from JFNA. JointMedia News Service spoke with Gold about the current landscape of genetic testing, his plans for the grant, and what the Jewish Federation means to him.

Can you explain the hesitancy of some couples to get tested for Jewish genetic diseases?

I don’t think that it’s really about hesitancy of couples, I think that it’s about lack of information. Many couples simply don’t know that they should be screened for Jewish Genetic Diseases, and the ones that do know don’t know that they should be screened for what are today 19 different Jewish genetic diseases. And since their rabbis don’t know, and their doctors don’t know, we’re working to educate all of the players in this conversation. Neither one of our rabbis even mentioned it to us in our premarital counseling. Neither one of our doctors suggested it to us; we asked them to test us proactively. I think there’s just a lack of information out there, and so that’s what we’re trying to solve.

When is the best time for couples to get tested?

Our program is about having healthy children. Our program is not about whether a couple should get married. It’s hard enough for a nice Jewish boy to find a nice Jewish girl, and in today’s world, even if a couple carries the same mutation, they can still have healthy children of their own. We want couples to know the facts, so that they can have healthy children.

Like Caroline and me, some couples already have children, and they may not have been screened for Jewish genetic diseases or they may have been screened for only some of the 19 diseases. Before having your second, your third, your fourth child, parents need to update their screening, in case you haven’t been screened for all of the diseases or in case there are new diseases tests that have come along since your previous screening. When we started our program last year, there were 18 diseases to test for. Today there are 19 diseases, and with medical science advancements soon there will be 20 or 21 diseases to test for. So just because you’ve been screened doesn’t mean that you’re up to date.

How is it possible that couples were only being screened for 8 of the 19 known preventable Jewish genetic diseases?

Screening for Jewish genetic diseases is an issue that is as much a Jewish communal issue as it is a public health issue, and in order to create a standard, one has to understand both parts of the equation. We as a Jewish community focused very, very clearly in the 1970s on Tay-Sachs screening, and today many people know to be screened for Tay-Sachs. But sadly, the conversation never evolved, to ‘now it’s Tay-Sachs and a second disease,’ or a third disease or a fourth disease, and the laboratory companies never created a standard for the panel of diseases that Jews should be screened for. We are promoting awareness in the Jewish community and creating that standard for doctors and laboratories across the country to follow in screening for all 19 known preventable Jewish genetic diseases. There should never be another couple who gives birth to a child affected by a Jewish genetic disease because the parents didn’t get screened for all 19 known preventable Jewish genetic diseases.

What does the Jewish Federation mean to you, and what does this specific award mean to you?

Caroline and I grew up in homes where the Jewish Federation was always very important. I’m an active member of our Federation here in Atlanta, and I think that Federation is the calling card serving Jewish needs locally and around the world.

Being named the Jewish Federations of North America 2011 Jewish Hero is great for our program because it helps us share our family story and message of Jewish Gene Screen. We may never know whose lives we touch through Jewish Gene Screen. Those who saw our story as a result of the Heroes Program may get tested or tell a friend who is getting married to get tested, and as a result we will save lives. I’m grateful to Federation for giving us the opportunity to share our message in such a global way.”

What is your specific plan for the $25,000 Heroes grant?

Our program will go national next year and we’ll be in five or 10 more cities. Jewish Gene Screen will become the standard across the country for how communities create an awareness program around the need for screening, how to educate doctors and rabbis and young people, and it definitely will help us further our mission.