Beyond Tay- Sachs
Conversation with Stan Michelman and Lois Neufeld
Jewish Genetic Disease Consortium
By Cindy Mindell
(CJL) One in five Jews of Ashkenazi descent carries an inherited genetic mutation that could cause a serious disease in a descendant, or even the early death of an offspring.
There are now 11 genetic disorders identified as occurring more frequently in the Ashkenazi-Jewish population than in other ethnic groups. The not-for-profit Jewish Disease Consortium comprises several U.S. organizations that each works to combat a specific disease through research and education. Together, the JGDC brings one voice to increase awareness to the medical profession, Jewish leaders, and the Jewish community at large.
The JGDC also facilitates genetic testing for carrier status, which can ultimately prevent or greatly reduce the birth of affected children. Today, a simple test can determine whether one carries any of the 11 genetic mutations.
Co-chairs Stan Michelman and Lois Neufeld spoke with the Ledger about their organization and the importance of testing.
Q: How did each of you become involved in this effort, and how did the JGDC come about?
SM: I lost a grandson when he was 4 1/2, to Tay-Sachs, and got involved in the national Tay-Sachs Foundation. The foundation joined with other disease groups and formed the Genetic Disease Foundation, that raises money for all diseases. The GDF became one of the consortium's founding members.
LN: A friend in my building had a relative born with Canavan Disease. She asked me whether I would sit in on a Canavan Foundation board meeting, then invited me to another meeting, and by the time I was finished, I was hooked. I joined the foundation, eventually became president, and started thinking about all the genetic diseases.
All are autosomnal recessive-gene diseases, and all the associated organizations want the same thing: Help people acknowledge the existence of the disease, learn about it, and get tested. I met Stan in 2003, and we organized a symposium in New York City for all the organizations' leaders, where it became obvious that we all shared goals, frustrations, and ambitions. In 2005, nine of the 11 organizations decided that it made sense to pool resources and knowledge about these devastating diseases, and engage the medical profession, rabbis, and the public at large, as one voice.
The consortium has developed at breakneck speed since. It is completely volunteer, made up of the presidents of all the disease organizations, the majority of whom actually has a child affected by one of these horrific diseases. Each participant works on his or her own disease organization, and brings that drive to the consortium.
SM: Because JGDC represents so many groups, it makes it easier for other organizations to work with us - we are representing all the diseases and hundreds of thousands of potentially affected people, and we're giving information in a clear, concise message.
Q: What does the JGDC do?
SM: We run two main programs: Grand Rounds, and community screening events.
Grand Rounds is an educational program for doctors, and we have run it in several dozen hospitals in the Tri-State. We have a professional explain why these diseases exist in the Ashkenazi- Jewish community, and have a member of an affected family speak. In that way, the medical professionals are getting the facts on the diseases and seeing their impact. All it takes is one affected child to make you realize the impact of these diseases. We have been getting requests from around the country to expand the program.
At community screening events, participants can be tested for the diseases, either with a blood test or a saliva test. The actual screening is a very helpful thing, but the educational value of it is also significant. Our recent Westchester County screening brought people from as far away as Virginia and Boston. Parents and grandparents who learn about the screening encourage their kids of child-bearing age to participate.
SM: We started handing out postcards to doctors who want educational information, and within a month got more than 1,000 requests.
LN: After this kind of presentation they really understand it, we're amazed at the requests we're getting
Q: How did the Ashkenazi-Jewish population become so vulnerable to these genetic mutations, and how are the diseases inherited?
LN: Going back hundreds of years, Jews tended to stay where they were, for fear of moving on and getting killed. It was like "Fiddler on the Roof: the baker's daughter would marry the tailor's son, and there was a lot of inbreeding over time. These mutations cover the globe: We get calls from all countries saying, "We were just diagnosed with..." and they'll name a Jewish genetic disease, "and how can that happen? We're not Jewish." But people migrated. It can be quite shocking when you tell some of these people that there is a Jewish mutation in their family.
I just got an e-mail from a woman in Poland who has a child with Cystic Fibrosis and was on a website where she found out about other Jewish genetic diseases. She asked whether we might be able to work with her because she wants to have another child but is frightened because she might be a carrier of another disease. They don't do this kind of screening in Poland, so we're trying to find out whether the saliva testing kit can survive transport.
SM: At an annual Tay-Sachs conference, there was a young non-Jewish woman from Ohio with a Tay-Sachs child, and it took a year for her to be diagnosed, because it's a Jewish disease and no one thought to test for it.
Even if you have two affected parents, there is a one-in-four chance in each pregnancy to have an affected child. There is an early test, at 10 weeks, to determine if a child is affected, so that the couple has the information to make a decision. We don't give advice, but we can refer people to a genetic counselor.
We recently offered screenings at a genetics seminar in Englewood, N.J. Two dozen people were tested and 10 were found to be carriers, an alarmingly high rate, since our our screening rates usually come in at 20 percent.
Q: Who should be tested?
LM: Every generation of Ashkenazi Jews needs to be tested until the medical profession learns to turn off the mutated genes.
SM: A lot of people who are tested already have an unaffected child, and want to have additional children and think they're safe, but in the time lag between the first and next pregnancy, there may be 10 more diseases that are discovered. So people should be tested before each pregnancy.
LM: The consortium stays on top of that from the forms screening participants fill out when they're tested. So we have contact information, and two to three years from now, if we have more diseases to be tested for, we will get back to those people with updated information.
SM: We have rekindled awareness of these diseases. So many people thought that Tay-Sachs was cured and that it was the only Jewish disease out there. We have gone to so many conferences and symposia and handed out literature.
Awareness is essential. I went up to one older man who said, "I don't need it." I said, "I thought that too until I buried my grandson." Even if you're tested and the mutations have disappeared, they can skip a generation.
One simple test gives 11 answers, and the new saliva test makes it easy for every person to be tested. People will eventually be able to do it at home. Our medical advisory board says it's just as accurate as a blood test, though there are one or two Tay-Sachs mutations that aren't picked up.
Q: Are there mutations specifically common to the Sephardic-Jewish population?
LM: There are a few, but we're not there yet as an organization. We will be broadening our services and bringing in Sephardic Jews. We will also be screening for BRCA1 and BRCA2 genetic mutations [breast cancer 1 and 2], which we're not set up for yet, because those are inherited in a different way.
We try and partner with other organizations that are testing for other diseases. We keep on honing the consortium, and want to eventually bring everything we know to every ethnic group, and then move on internationally. We know what some of the other ethnic groups' mutations are, but bringing that information into the consortium will take some time. But when those groups are ready to do testing, we'll share our knowledge with them.
The Jewish Genetic Disease Consortium hosts community screening events and free genetic screening events for college students. For more information on the diseases and testing, visit www.jewishgeneticdiseases.org. Says Michelman, "The life you save may be your grandchild's."