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.”
Over the course of two and a half hours, the group of Orthodox, Conservative and Reform spiritual leaders heard from the parents of children born with genetic diseases, from genetic specialists and from fellow rabbis who counsel couples on a regular basis. Statistics compiled by the JGDC revealed that one in five Ashkenazi Jews is a carrier for some disorder, and that less than half of all Jewish couples are screened before pregnancy.
The “Couples Aware” rabbi education program is a partnership between the JGDC and the New York Board of Rabbis, funded by a one-year $50,000 grant from the UJA-Federation of New York. This money will go to “the development of the curriculum and the development of materials and the workshops for area rabbis,” said Roberta Leiner, managing director of the Caring Commission at UJA-Federation.
For decades, it has been common for Ashkenazi Jews to be tested for Tay-Sachs, a degenerative disease that usually proves fatal by age 4. However, many other disorders that are found in the Ashkenazi Jewish community are significantly less known. Currently, the JGDC identifies 16 diseases that it recommends Ashkenazi Jews be screened for, including Canavan’s Disease, cystic fibrosis, Gaucher’s Disease and Mucolipidosis IV.
“I don’t think it’s going to stop there,” said Dr. Harry Ostrer, director of the Human Genetics Program for Pediatrics at New York University, and a member of the medical advisory board of JGDC. “I think the number is going to grow as we do more medical research.”
These 16 are autosomal recessive disorders, which means that both parents must be carriers of the disease to have a child who is affected. If they are both carriers, each pregnancy has a 25 percent chance of producing a child with the disease.
With the exception of Gaucher’s, which can have widely varying severity, “most of the diseases are devastating,” according to Dr. Susan Klugman, director of the Division of Reproductive Genetics at Montefiore Medical Center.
The Brooklyn-based organization Dor Yeshorim has been testing young couples in the Orthodox world for several decades. It currently tests for 10 genetic disorders. In order to avoid stigmatizing carriers, it does not reveal to a person if he or she is or is not a carrier — merely if he or she is “compatible” with a prospective partner. The organization recommends that partners who are not compatible avoid marrying each other, and will not test already engaged or married couples.
This approach drew criticism from some members of the crowd at Thursday’s event.
“It’s hard enough to find mates for marriage,” said Rabbi Haskel Lookstein, of Congregation Kehilath Jeshurun on the Upper East Side. “I don’t think anyone should make a decision based on this.”
Klugman, who led the rabbinical training, said, “It’s a common misconception that they shouldn’t have children.” In reality, said Klugman, “carrier couples have options. … The goal of genetic counseling is to help carrier couples determine the best way to build a healthy family.” Options that were suggested include in-vitro fertilization with pre-implantation genetic testing, fetal testing with the option of terminating the pregnancy, sperm or egg donation and adoption.
Randy Yudenfriend-Glaser was screened for Tay-Sachs disease during college. But when her first child, Lauren, was diagnosed with Mucolipidosis Type IV, at age 2, Yudenfriend-Glaser and her husband were floored.
“We had no idea that anything like this could happen,” she said. At the time, the only testing available for ML IV was to send a sample of amniotic fluid to Israel, and when Yudenfriend-Glaser got pregnant again, she did so, confirming that her second child was not afflicted. But results for her third child, Jonathan, were faulty, and he was also born with the disease. Today, Lauren and Jonathan are both in their 20s, and live in a residential home. Lauren has never been able to walk or talk, and has lost most of her vision. Jonathan has similar struggles but can take some steps with a walker.
Today, Yudenfriend-Glaser is the chair of the JGDC, “with the goal of getting the message of screening out to all Jewish couples,” she said.
After they heard from parents of affected children, the group of rabbis had a chance to talk about the practicalities and problems of discussing genetic diseases with couples.
“These are young couples, and we can’t underestimate the extreme cost of this,” said one participant, after Klugman told the crowd that testing could total up to $5,000 for all 16 disorders.
Marion Yanovsky, a board member of JGDC, said, “In the context of how much a couple might be spending on a wedding, I do not believe that the costs of these tests are great.” And, another audience member pointed out, “The cost of caring for a sick child is phenomenally expensive.”
Klugman expanded that many insurance plans cover genetic screenings, and there are also “labs out there that are doing this at philanthropic rates,” she told The Jewish Week. “Couples should either go to a doctor or genetic counselor” — never straight to a commercial lab, said Klugman.
Michael Stoler, founder of the Foundation for Medical Evaluation and Early Detection, announced a $90,000 grant last week, to cover individuals who do not have insurance or the means to pay for screening.
Some rabbinic participants in the session also mentioned the sensitivities in bringing up the issue when those who come to them for counseling may be converts, Sephardic Jews, adopted or uninterested in having children.
“I have couples who come to me, who already live together,” said Rabbi Michael Dick of Congregation Shaarey Israel in Rockland County. “They’re already 80, 90 percent” married, he said, concerned that such a couple would be unwilling to end the relationship, even if they were genetically incompatible.
But many rabbis may even encounter a further concern. “Couples come to us who may already be pregnant,” said Rabbi Diana Gerson, who led the rabbinic counseling discussion. “At that point, I’ve missed the opportunity to have that initial conversation.”
The JGDC has plans to host “Couples Aware” training session for rabbis around the New York metropolitan area, with five dates already set over the next six weeks, with additional sessions being planned in Connecticut and New Jersey next year. The organization hopes eventually to take the program nationally.
Rabbis at the event received a “Rabbi Learning Guide,” which included a pledge to discuss genetic testing during premarital counseling sessions, which they were asked to sign that day, as well as brochures for them to hand out to couples who come to their office for counseling.
“We now have the tools to ensure that our children are born without Jewish genetic diseases,” said Yudenfriend-Glaser. “Let’s make sure we use them.”