A Short Film: The Jewish Genetic Disease Consortium

We invite you to watch this 13 minute film about the impact of Jewish genetic diseases on parents, children and families.  The video features the stories of a family who lost a child to Tay-Sachs, a family with two adult children with ML-4, and a woman living her life with Bloom’s Syndrome.

Please note: Since this video was made, the list of diseases affecting persons of Ashkenazi Jewish heritage has increased from 16 to 19 and a list of 16 diseases affecting persons of Sephardic or Mizrahi Jewish heritage has been developed.  

Despite the updates to the disease lists, the message of this video remains the same:  Persons of Jewish heritage who are starting or adding to a family should be screened for the appropriate genetic diseases before they become pregnant.

 

Jewish News One video and story on the grab_jnoneJGDC

 

NY Jewish Group Helps Parents Screen Genetic Disease

May 4, 2013

If you were at risk of having a child that could be unable to speak, walk or talk, wouldn’t you want to know? That’s the principle behind a program based here in New York that is educating Jewish couples about a series of rare yet devastating disorders.

This is Randy Yudenfriend Glaser. Her daughter, Lauren, is confined to life in a wheelchair. She can’t speak, and needs around the clock care. Lauren has Mucolipidosis Type 4, a genetic disorder found more frequently in Ashkenazi Jews than the general population.

Randy’s son Jonathan also has the disease. A pregnancy screening failed to detect his condition. The pain of caring for two disabled children led Yudenfriend Glaser to co found the Jewish Genetic Disease Consortium – which helps educate the public about the existence of these serious conditions.

Randy Yudenfriend Glaser, Jewish Genetic Disease Consortium: The reason we’re so passionate about it is that these diseases are not just children that look funny or have a learning disability. Many of these diseases such as Tay Sachs and Canavan disease, children die at very young ages. And they’re awful deaths. They regress, they decompensate, many of them become blind, they need feeding tubes, there are hospitalizations. Its really awful.

The program she helped create has a way to prevent that heartache: screening and education. The Jewish Genetic Disease Consortium wants Jewish couples thinking of starting a family to get screened by a doctor before they become pregnant. The goal is to find out if they carry the genes for one or more of the 19 screenable Jewish genetic diseases. If both parents carry a gene that corresponds with a particular disorder, they have a 25 percent chance of having a child that suffers from it.

Randy Yudenfriend Glaser: You have information, if you know if you’re a carrier, if you both carry you and your partner, you have knowledge. You can make a decision based on knowledge. I got involved because of this. That’s why our organization is unusual because its so passionate. A lot of us have children who have either died or who are living with one of these diseases.

And who else better to serve as educator than a rabbi? The JGDC works with rabbis like Deborah Bravo to help them provide premarital counseling on screening and options.

Rabbi Deborah Bravo: Typically we deal with Ashkenazic backgrounds, when two people come from an Ashkenazic background, or even one person does and there is a possibility that that second person’s relative somewhere along the line came from the same area as our Ashkenazic roots, its important for those individuals to be tested.

Options for at-risk couples include adoption or selective in-vitro fertilization, allowing doctors to select a fertilized egg that won’t produce a child with a disease. Once the woman is pregnant with an affected child, Bravo says, the options are limited to having the child or terminating the pregnancy.

Rabbi Deborah Bravo: When you stand under the Chupa and you’re wed to your partner you’re there for good and for bad. And we hope and pray that most of it is good, but it is important to know how to deal with the bad as well. So I definitely have taken that role much more seriously in the past couple of years as I have come in contact with it more and realized the importance that we as clergy can have in educating our couples.

Unfortunately the risk that a couple can have a child with one of these rare diseases can never be fully eliminated. But thanks to work of some passionate people, Jewish couples can at least understand the risks and how to mitigate them.

Quinn Bowman, JN1, New York