Freshman year, Shoshana Rosen took a test that determined her future.
While working as a camp counselor in Pennsylvania, Rosen participated in a genetic screening program run by the Victor Center for Jewish Genetic Diseases in Philadelphia. The test revealed that Rosen carries the gene for Cystic Fibrosis (CF), an inherited chronic disease that affects the lungs and digestive system of about 30,000 people in the United States. CF is one of many fatal genetic diseases prevalent among Ashkenazi Jews (Jews of Eastern European descent).
Jonathan Finger and Shoshana Rosen.
As a carrier, Rosen has a 25 percent chance of producing an affected baby if her future husband is also a carrier for CF. Rosen's plans to marry Jewish put her at an increased risk for passing on the genetic disorder.
That's because 1 in 4 Ashkenazi Jews is a carrier for a Jewish genetic disease which could be as treatable as Gaucher's Disease Type 1 or as devastating as Tay-Sachs Disease for which there is no cure. Babies born with Tay-Sachs usually die before the age of 5. Without prior screening, young couples run the risk of being genetically incompatible and facing heartbreaking consequences.
When Rosen learned all this, she took the cause of genetic testing awareness to heart and in 2006, her senior year at the University of Pittsburgh, she brought the Victor Center to campus to educate students about Jewish genetic diseases. Nearly 200 young people, including Rosen's boyfriend, received genetic counseling and were screened for nine different diseases free of charge. Rosen's boyfriend tested negative for the CF gene.
Rosen is now 24 years old and working as the youth director at a Reform temple in Delaware. She and her college boyfriend, Jonathan Finger, are still dating and can consider marriage free of fear from transmitting CF to their children.
"The good thing about getting testing young is that it's of such low consequence," says Rosen. "What about couples who get tested when they are already engaged? What do they do then?"
Dr. Adele Schneider, clinical director of genetics at the Victor Center says that promoting awareness early about Jewish genetic diseases is the first step toward eradicating them. She's worked with many Hillels to sponsor genetic counseling sessions for Jewish students on campus. Penn Hillel hosted the Victor Center for a cross-campus genetic screening for Jewish students from University of Pennsylvania as well as nearby Temple University and Drexel University. Awareness campaigns by several Jewish organizations have also been launched at schools in New York, Arizona, California and Massachusetts. And Yeshiva University offers screening for its students through Dor Yeshorim, an anonymous testing program developed by an Orthodox rabbi in the 1980s.
While instances of Jewish genetic diseases have declined significantly since the Jewish community first embraced screening in the 1970s, there still remains a great lack of awareness within the Jewish community according to Michelle Gilats, genetic counselor for Children's Memorial and the Chicago Center for Jewish Genetic Disorders.
"We want young people to know that this opportunity [for early screening] exists," explains Gilats.
In Illinois, the Chicago Center offers four screenings per year, which include a dinner presentation, for just $90. Gilats explains that cost is far below the thousands of dollars some laboratories charge for genetic testing, which many insurance companies will not cover unless an individual is pregnant or thinking of becoming pregnant. The screenings also help to educate the community about how Jewish genetic disorders are inherited and why they exist.
"Judaism is not just a religion, but an ethnic background," says Gilats. "All ethnic groups have higher rates of different illnesses."
Because Ashkenazi Jews were an isolated population for nearly 1,000 years, tending to marry among each other with little migration in or out, genes mutated at a higher rate. The result is higher concentrations of certain diseases and disorders within Ashkenazi ancestry.
Robin Fiddle Posnack and her family have been struggling with one Jewish genetic disease for more than two years. Posnack's son, Jack, was the 601st child to be diagnosed with the Jewish genetic disease Familial Dysautonomia (FD), also known as Riley-Day disease, in February 2006. Posnack, already a mother to a healthy son from a previous marriage, told a Westchester County, New York, newspaper that her doctor didn't screen for FD when she became pregnant again by her second husband in 2005. A blood test for FD had been developed four years earlier. As it turns out, both Posnack and her identical twin sister Mandy are carriers. Neither one had any idea until Jack started showing symptoms at birth. Posnack noticed that her son did not shed tears, not even during his bris (ritual circumcision). A barrage of tests over the next eight weeks revealed the devastating news.
Avi Buchbinder and Leah Metz.
Children with FD are lacking a vital protein that affects the sensory and nervous systems. Without that protein, basic functions such as swallowing and breathing are a struggle. FD patients, like Jack, cannot regulate their own body temperature and blood pressure, something a healthy person does automatically. Jack also feels no pain, which makes him vulnerable to a host of other health issues. The good news is that new research has found babies diagnosed in 2006 (as Jack was) have a 50% chance of living to age 40 (the average lifespan for an FD patient is 15 years).
Leah Metz, 23, and Avi Buchbinder, 24, want to avoid the pain Jack's family has endured. The couple will be married this summer and underwent genetic counseling in December at the urging of a friend through the Chicago Center.
Because Metz, a agraduate of UC Irvine and Buchbinder, a Northwestern University graduate student, are of Ashkenazi descent (though Metz's mother converted to Judaism) there was some concern about the health of their future children. To their relief, bloodwork on Buchbinder determined he is not a carrier for any genetic diseases and so even if Metz is, there is no risk of producing an affected child together.
"We wanted to be prepared so that we don't have to worry when we're ready to have children," says Metz.
Read about the ethics of genetic screening in Learn Something Jewish.
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