These are just a few of the stories we’ve collected to illustrate different aspects of Jewish genetic health and how the Center can provide education and support.
If you have a story about how you’ve been impacted by a Jewish Genetic Health
issue or the Norton & Elaine Sarnoff Center for Jewish Genetics, we would
love to hear from you. Please email Sarah Goldberg at SarahGoldberg@juf.org.
Rabbi Aaron Melman
Jillian and her family.
From the moment you become a parent all you want to do is protect your child. During this past week’s Associate Board meeting, I was intrigued by the very special story of Art Kessler. He shared his personal battles with a rare Jewish genetic disease and
the great lengths he and his wife went to protect their children from inheriting this disease.
At the age of nine, Art began showing mild symptoms of Dystonia, a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. As Art grew, so did his symptoms. His feet started turning
in and he experienced arching in his back among other very painful symptoms. One thing he said that really stuck with me was that he never considered himself disabled because he could do everything anyone else could. His strong will and positive mentality will stick with me forever.
Several years later Art, now married, and his wife posed the question: what about kids? With the same unstoppable attitude he’s clearly exuded his entire life, he and his wife underwent PGD IVF. This is a form of IVF that allows you to screen embryos not yet
implanted, for potential genetic disorders such as Dystonia. This level of medical technology amazes me. Through this process they were able to conceive two children without the risk of passing on the Dystonia gene. And today, through new treatments, Art is living with 80-90% less symptoms.
Art’s story really showed me the importance of disease prevention and the role genetic testing can play in our lives. It got me thinking about my own journey.
Nearly 10 years ago I lost my father to cancer. Not a day goes by that I don’t miss him dearly. But, I must confess that I also worry about what role genes played in his cancer. Like Art and his wife, I would do anything to keep my daughter from inheriting such a
gene. That’s why the Center for Jewish Genetics is so important and one of the reasons I decided to join the Associate Board.
Two years ago, I was told my insurance wouldn’t cover the pricy genetic tests unless I was already pregnant. At the time, I didn’t know about the Center for Jewish Genetics and the programs they offer. In fact, I didn’t know much about the tests, the process
and what it all meant. So I waited to get tested until we were pregnant with my daughter. But, in those two weeks, while we waited for the results, I thought a lot about this little miracle I was carrying around. And, any woman who has been pregnant knows you spend about 99% of those 40 weeks thinking, worrying,
eating, peeing and worrying some more…So I did what any pregnant woman would do, I thought a lot…what if I was a carrier? What if my husband was a carrier too? What if we pass a genetic disorder on to our child? Thankfully I was not a carrier and the testing stopped there, but unfortunately, it doesn’t always end
this way for other families.
There are many people with stories like Art’s. Many with stories about cancer. My hope is that through organizations like the Center for Jewish Genetics we can help educate people and arm them with the information they need to better understand and help
prevent these diseases.
- Jillian Segel, Associate Board member
Ellie and Jeremy Forman. Photo courtesy of
Joel Wintermantle, Chicago Tribune.
“Organization screens for 19 conditions that could otherwise develop in children” January 02, 2013|By Karen Schwartz, Special to the
For Ellie and Jeremy Forman, getting married involved much more than walking down the aisle in fancy garb and saying their "I do's" in front of family and friends this past July.
Jeremy, 34, an entrepreneur, and Ellie, 29, a community relations manager for Mesirow Financial in the River North neighborhood, underwent genetic testing in August at Anshe Emet Synagogue in Chicago.
"Jeremy and I come from mixed Jewish backgrounds — both Ashkenazi and Sephardic," Ellie Forman said. "My mother's parents are from Spanish and Greek descent, and Jeremy's mother was adopted as an infant, so we don't know a lot about his background on her side."
They did know, however, that Jeremy's blood tests at birth showed he is a carrier for beta thalassemia, a blood disorder more common among Greeks and other Mediterranean ethnic groups and in Southeast Asia. Both parents must be carriers for a child to develop
"Given that I'm half-Greek and he is a carrier for this Greek disease," she said, "we knew that genetic testing would be very important."
For years, many pregnant Ashkenazi women have been screened for a battery of genetic diseases, including Tay-Sachs, which invariably leads to extreme disability and early death. Now, more Jewish couples are undergoing screening before starting families.
The Forman’s underwent testing through the Center for Jewish Genetics, which was founded in 1999 and is the only nonprofit organization of its kind in the Midwest. Headquartered in the Jewish Federation Building at 30 S. Wells St., the Center receives funding from
individual donors, the Michael Reese Health Trust, Jewish Federation of Metropolitan Chicago and from various foundations and corporations.
The Center sponsors genetic counseling for couples — typically between ages 25 and 40 — who are tested at synagogues throughout the city and suburbs, either before or after they get married. Most are Ashkenazi Jews, who descend from Central or Eastern Europe,
because many of the genetic disorders for which they are screened occur more frequently in their population.
"When we started in 1999, you were only tested for four medical conditions, and now, we're testing for 18 because of advancements in genetics and technology," said Karen Litwack, director of the Center for Jewish Genetics.
In 2012, the center tested 250 people, and in 2013 it expects to double that number thanks to a significant donation from a private foundation," Litwack said.
The 18 disorders that the center screens for are autosomal recessive, meaning both parents must be carriers for a child to be affected, and include Canavan disease, cystic fibrosis, familial dysautonomia and Tay-Sachs disease.
The Forman’s tested negative for those disorders. But based on their medical histories, they were also screened for beta thalassemia and factor XI deficiency, Ellie Forman said. They found out they were both carriers of factor XI deficiency, otherwise known as
hemophilia C, which can lead to an increased risk of bleeding after surgery or an injury.
"I'm glad to have this information because it allows us to go into child rearing with a lot of confidence," she said.
In addition to genetic screening for couples, the Center for Jewish Genetics offers an up-to-date list of genetic counselors in the Chicago area who offer testing for genetic disorders and hereditary cancers, such as BRCA gene mutations, whose carriers are at
higher risk of developing breast and ovarian cancer, according to its website.
The BRCA gene mutations increase a woman's risk of developing breast cancer from 12 to 60 percent and ovarian cancer from 1.5 to 40 percent, said Scott Weissman, a licensed genetic counselor at North Shore University Health System in Evanston who is on the
Center's advisory board.
"However, among Ashkenazi Jewish individuals, 1 in 40 people carry a BRCA mutation, making it over 10 times more prevalent in the Jewish population," Weissman said.
Ashkenazi Jewish women with a first- or second-degree relative with breast or ovarian cancer may be at an increased risk for carrying a BRCA gene mutation and should seek genetic counseling, said Weissman, who helps patients draw a medical history of their
"Exploring an individual's family history can help people determine what their risk is so they feel empowered about their health," Weissman said.
This story originally appeared in the
In 1999, I along with a few others founded the Center for Jewish Genetics. We founded the Center with the goal to educate the Jewish community about Jewish genetic disorders, and to assist carriers of mutant genes to understand their family planning options.
Later we added subsidized genetic screening.
In 2013, genetic technology has advanced to a point that we can literally “change Jewish history.” One in four Ashkenazi Jewish is a carrier of one of the “Jewish genetic disorders,” and most do not know it. Science has now developed ways that we can test for these
defective (mutant) genes with a simple blood test. The Center staff can then assist individuals who are carriers with their family planning decisions and help them avoid passing the mutant gene to their kids – hence “change Jewish history” by eliminating the these Jewish genetic disorders.
When the Center was founded, my wife and I already knew that our son Art Kessler had Dystonia – one of these disorders. At the time there was no technology available that would allow Art and his wife Wendy to be sure their natural born children would not inherit the
mutant dystonia gene. Since the time of their marriage, new technology called PGD (Pre-implantation Genetic Diagnosis) has been developed to avoid this situation. With the assistance of PGD, Art and Wendy have given birth to two children who are not carriers of the Dystonia gene.
We have stopped the dystonia gene from being passed on to subsequent generations in our family.
That is how the work of the Center has changed the lives of my children and grandchildren as well as hundreds of families. We are “changing Jewish history” – one family at a time. It is an honor to be part of such an important endeavor.
An International Patient
"My Dutch husband and I live in Europe. Interested in starting a family, we looked throughout the Netherlands, Belgium, and Germany for a place to have Jewish genetic testing done. Unfortunately, not one of the doctors we spoke with were aware of this
kind of testing. My GP said that I had to prove a family history of genetic abnormalities if I wanted a Rx for genetic testing, and even then, the labs were only equipped to test for, at most, 18 conditions. Each test would cost around €40. I knew from my research that while there are 19 more common genetic
conditions for Ashkenazi Jews, most centers in the U.S. test for at least 80 conditions. Beyond the exorbitant rates for just 18 tests in Europe, it seemed unreasonable that I would need to prove a “family history” since the reason I was getting tested was because of my Ashkenazi heritage. I assumed that
Ashkenazi genetic testing would be most available and affordable in Europe!
When I was back in the U.S. for a visit, I called various genetic centers to inquire about getting tested. Even if the tests were available to me while on holiday, without American health insurance, the tests were just too expensive.
Ready to “give up” and just pay the exorbitant amount for 18 tests in Europe, I connected with Aishwarya Arjunan at The Center for Jewish Genetics. Aishwarya coordinated the Jewish genetic testing for me – all 83+ tests including the 19 disorders on the
Ashkenazi panel – and made sure that it was offered to me at a reasonable rate. I was so relieved to have Aishwarya advocating for me, ensuring the lab sent the tests in a timely manner (before I flew back to Europe!), and following up with me when my results arrived to explain the Jewish genetic disorders,
whether my husband would need testing, and if I had any questions. Aishwarya was incredibly generous with her time; she was professional and compassionate. My husband and I are beyond thankful that my results came back negative. We are so grateful for our health, the peace of mind, and for Aishwarya and the