Since screening for Tay-Sachs began in the 1970s, the number of Ashkenazi Jews born with the rare inherited disease that destroys nerve cells in the brain and spinal cord has plummeted by 90 percent worldwide.
Now, JScreen, a non-profit organization associated with the Department of Genetics at Emory University in Atlanta, is trying to replicate those results as it screens for a whole host of other genetic diseases that are common in the Jewish community. The goal is to save couples the heartache of having a child born with one of those diseases.
To spotlight its efforts, the organization designated the first week in February as Jewish Genetic Screening Awareness Week and they are offering a discount to anyone registering for the screening this week. To apply for the genetic screening, applicants can complete the application on the JScreen.org website.
“Our goal is to screen hundreds of thousands of young people of reproductive age to save lives,” said Hillary Kener Regelmann, director of national outreach for JScreen.
Randy Gold and his wife, Caroline, had basic Jewish genetic testing done in 2004 before they had children. Their first child, Natanel, is a healthy boy. But their second child, Eden, was born with a rare genetic disease, Mucolipidosis type 1V (ML4). Among other things, the degenerative disease can lead to blindness, confinement to a wheelchair and a shortened life expectancy.
The unexpected birth defect caused the Atlanta-based Golds to establish JScreen in 2013 to help others avoid the same pain they experienced. Supported by funding from the Marcus Foundation, JScreen not only checks for various diseases but has a genetic counselor discuss the results in-depth with each couple.
“We wanted to give other couples the information they need so that they could make an informed decision on how they want to build their family,” Randy Gold explained. “When you have information that indicates the two of you have the same mutation, you have a 25 percent chance of passing it along to your child. When you know you both have the same mutation, you can then decide whether you would be comfortable with any number of options – including taking your chances or terminating the pregnancy if you find the fetus has the disease. You could also adopt a child, use a sperm or egg donor or use in vitro fertilization [IVF] and pre-implantation genetic diagnosis [PGD].”
Gold said he and his wife went through four rounds of IVF and PGD, after which they gave birth to their third child, Shai, a healthy baby girl.
“There are many families that have reached out to us to express their thanks and appreciation for giving them the ability to have a healthy child or a healthy grandchild,” Gold said.
One of them, Josh and Goldie Grinberg of Brighton, Mass., were married in 2017 and had genetic testing done by JScreen that found they were both carriers for Gaucher Disease, which is another common genetic disease in Ashekenazi Jews.
“That prompted our decision to do IVF so we could test the embryos,” Goldie, 24, said. They started the IVF process in 2019 and are still trying.
“There is a lot of uncertainty with IVF,” said Josh, 27. “Even though we may have an embryo with no genetic defects, there is no guarantee it will implant properly. We were told that with a healthy embryo there is only about a 70 percent chance of a live birth.”
But Goldie insisted: “We stand by our decision. It is worth the extra effort now rather than having a child with a disease that affects him his whole life.”
Stewart Ain, an award-winning veteran journalist, covers the Jewish community.