Don’t we know all there is to know about Jewish genetic diseases already? Stories of families like Randy and Caroline Gold’s suggest otherwise.
The Golds were a typical Jewish couple: active in the Jewish community, hopeful of starting a family someday. They heard through friends that they should request their doctors screen them for Jewish genetic diseases before getting pregnant. Not really sure how many diseases they were being tested for, the Golds, like many, presumed the panel offered was standard and that they were in the clear when the results came back with no matches.
The couple was overcome with joy when they gave birth to their first child, an active, sweet, adorable baby boy. It was only when their second child wasn’t meeting routine milestones that they recognized something was wrong. After months of testing, their daughter Eden was diagnosed with mucolipidosis type IV (ML4), a disease more common in those with Ashkenazi Jewish ancestry. ML4 is a neurodegenerative disease that significantly impacts both mental and motor skills.
Eden is now nine years old and will never learn to walk or talk; doctors say she will probably go blind by the time she is twelve, will reach a maximum mental capacity of 18 months, and is only expected live until early adulthood.
How could this happen? Randy and Caroline asked to be screened! For one, their doctors had no idea what to screen them for. Furthermore, the rabbi who married them never mentioned Jewish genetic screening in pre-marital counseling and what diseases they should have on their radar. How were they supposed to know that there are now many Jewish genetic diseases that are known and preventable through a simple test? This testing informs you about whether you are a healthy carrier of a genetic disease, meaning that you aren’t affected by the disease and display no symptoms, but have the capacity to pass it on if your partner is a carrier of the same disease. It’s quite common to be a carrier; in fact, one in three Jews is a carrier for at least one of these Jewish genetic diseases. If both partners are carriers for the same disease, then there is a twenty-five percent risk in each pregnancy that the child will be affected with that disease. The problem is that the only way to know if you are a carrier is to have an affected child or to get screened.
Their experience led a team of genetic counselors from Emory University to found JScreen, a national, non-profit genetic screening service for Jewish genetic diseases. The concept is simple: educate the community about the importance of proper screening for Jewish genetic diseases and create unparalleled access to genetic screening. JScreen makes testing for Jewish genetic diseases simple by providing an easy-to-use at-home saliva test that gives couples planning for children an unprecedented understanding of their own genetic makeup and risks relating to their children’s health. The results are delivered through phone or secure video teleconference by a certified genetic counselor.
“I share the importance of screening to both Ashkenazi and Mizrahi/Sephardic populations,” said Ilana Weltman, a JScreen volunteer in Washington, D.C. “I enjoy educating the public on what is screened for and why it is helpful to take action early on. JScreen has attracted the interest of college students, young professionals, and young couples. People now recognize JScreen as it has grown significantly in the past few years thanks to their vast outreach efforts.”
JScreen tests for diseases commonly found in those with Ashkenazi, Sephardic, and Mizrahi backgrounds, as well as general population diseases. Therefore, the test is relevant to anyone with Jewish ancestry — even just one Jewish grandparent — as well as interfaith couples.
“I wasn’t aware it was necessary for me to be screened, because I am half Ashkenazi and half Mizrahi,” said Weltman’s sister, Danya. “Thankfully JScreen informed me otherwise and I’m now educated about diseases that are significant to my background for when I am ready to start a family.”
JScreen has already screened thousands of people across the country, including a large number from the DC metro area. Two of these individuals, Tamar and David May, a dynamic couple active in DC Jewish life, “got JScreened” and are now expecting a baby this summer.
Tamar reflected on her experience: “When my husband and I found out that I was pregnant, JScreen’s test results provided me with invaluable peace of mind. We got tested just after we were married. All we had to do to assuage my fears was spit into a tube and pay a small fee. This was a no-brainer.”
“My husband and I were thrilled to find out that we were both not carriers of any Jewish genetic diseases, and very thankful to JScreen. In fact, we were so thrilled that we marched with JScreen in that year’s Israel Day Parade in New York shouting, ‘Screen your genes!’” While Tamar admitted to worrying about every detail of her pregnancy, “the prospect of having a kid with a Jewish genetic disease is not one of them, thanks to JScreen,” she said.
By Hillary Kener
Hillary Kener oversees national outreach and communications for Emory University’s JScreen program. She has been featured in magazines, newspapers, and television for her efforts to generate awareness around the importance of genetic screening throughout the country. Hillary is a published author and is very active in multiple charitable organizations.