Brian Cohen encourages students at the University of Pennsylvania Hillel to be screened for genetic diseases.

A Parent's Tragedy Becomes A Mission

-- Adele Schneider, M.D.

A parent’s worst nightmare: hearing from a doctor that your child will not live past age five. For Lois Victor, whose first child was born with Familial Dysautonomia (FD), this nightmare was horribly real. Because of her child’s shortened lifespan, doctors encouraged her to have another child. Nine months later, her second child was also born with FD. Both of Lois’s daughters died from this inherited disease, Debbie at age 8 and Linda at age 35.

It’s easy to think of a genetic disease as “something that happens to other people”...or something only to worry about when you get pregnant. For Jewish families of Ashkenazi (Eastern European) descent, however, the risk is very real, today. Most people have heard of Tay-Sachs Disease, but what about FD? Or Canavan disease? These and other “Jewish genetic diseases” remain prevalent in our community. All of them can lead to a lifetime of suffering and/or a shortened lifespan. However, there is hope for reducing births of affected children as a blood test is available which can screen for the 11 diseases in the Ashkenazi Jewish panel of diseases. For Lois Victor, her life’s mission has become raising awareness of this test and providing the screening to college students and young couples, free of charge, via The Victor Center at Albert Einstein Healthcare Network here in Philadelphia.

You might ask “why the Ashkenazi Jews?” One theory to explain the increased incidence in this population is called the “founder effect.” This results in a high frequency of a specific gene change or mutation in a population founded by a small ancestral group. The original larger population is markedly decreased in size by migration, isolation or perhaps a pogrom. Genes of the few "founders" of the new society are disproportionately frequent in the resulting population, especially if there is minimal gene dilution from intermarriage as was the case in years past. The single or few carriers in this population would then reproduce and generations later there would be many carriers.

Reducing the incidence of these diseases in the Jewish community means that you and your family members should be screened before you are even considering having children, so you can know your status and risk. It is up to the leaders of the Jewish community to come out with a loud voice to tell our young adults that these screenings are essential to make sure Jewish babies are born healthy. The success of Tay-Sachs screening in the 1970s was in large measure because of the community’s participation in education programs.

It has been estimated that approximately one in four Jews of Ashkenazi descent is a carrier of a change or mutation in a gene known to cause one of the inherited Jewish Genetic diseases. Fortunately, our genes come in pairs, and having only one mutated or altered gene in a pair of genes is compatible with perfect health. These individuals are called carriers. A carrier’s only risk is to pass on the altered gene to his/her offspring. Only if a child has inherited a gene mutation for the same condition from each parent, resulting in two non-functional copies, does the disease manifest. While in most families there is no history of a Jewish genetic disease, there continue to be carriers who inherit a gene mutation from their parents who themselves may not know they are carriers. These are primarily “autosomal recessive” genetic diseases and carriers may occur in several generations without the birth of an affected child. Most carriers have inherited the gene from a carrier parent. Therefore, if one carrier is identified in a family, that person’s siblings and cousins maybe at risk to be carriers and should seek genetic counseling and screening.

The Victor Center for Ashkenazi Jewish Genetics Diseases at Albert Einstein Medical Center in Philadelphia has taken on this task for the Jewish community with the Victor Center’s Kaiserman screening program that aims to educate, screen and provide genetic counseling to young adults prior to having children. Screening before pregnancy enables the couple to consider the largest number of options to have healthy children. At the present time most of the screening is done by obstetricians and gynecologists during pregnancy, and this timing forces the couple who are both carriers to make difficult decisions under very stressful circumstances.

The Albert Einstein Society provided seed money for this project in 1999. The Victor Center was established in 2002 and since then has been actively screening students on college campuses, primarily at the University of Pennsylvania. Newlywed (within 1 year of the wedding) and engaged couples are also offered free screening at the Einstein campus on North Broad Street.

In 2006 a Victor program was established at Tufts-NEMC. More Victor programs are planned in other cities to bring this model of education and screening with counseling to as many young people in the Jewish community as possible. Besides free campus screenings, the Victor programs go into the community to educate. Speakers are available to all Jewish communities who wish to host a program. In partnership with the recently formed \ Jewish Genetic Disease Consortium the Victor programs are able to extend the education programming country wide.

DNA, the material that carries our genetic information.

University of Pittsburgh was the site of the largest and most recent screening on a campus. On December 4th 2006, 187 students enjoyed free screening for 9 diseases at the Hillel Jewish University Center in Oakland on the Pitt campus. Adele Schneider, MD, Director of the Victor Center and Johannah Lebow, the outreach coordinator for the Victor Center worked with Shoshanna Rosen, a senior at Pitt and their Hillel staff to organize the screening. Assisted by the Genetics department at the University of Pittsburgh Medical Center (UPMC) and genetic counseling students from Pitt as well as community volunteers, this was the most successful campus screening to date.

College campus screenings have been shown to be an effective way of educating many young Jewish adults using their peers as the vehicle to spread the information. But the campus screening cannot be done unless there is a devoted group of student volunteers. Hillel staff support is essential. While the actual screening is free to students, they are required to do some fundraising which is a great way to raise awareness on campus.

Screening is aimed at all Jewish students irrespective of denomination or affiliation. The only requirements are to have Ashkenazi Jewish ancestry, be over 18 years of age and to show a student ID. Individuals who are part Ashkenazi Jewish are also encouraged to be screened as are those who may be married to a non-Jewish person. These disorders have higher carrier rate in the Ashkenazi Jewish population but do occur in the general population so screening is still essential for the Jewish partner. If the Jewish partner is found to be a carrier the non-Jewish spouse is screened.

As Lois Victor says, “My vision of the future is this: That all Jews of childbearing age are tested as a matter of course. That rabbis require testing before marriage. That physicians, family members, and community leaders promote testing. What better gift to give someone you love than a certificate for testing? These diseases are preventable. With one simple blood test, you can take responsibility for your life. I didn’t have that choice.”

For more information about the Victor Center and Jewish Genetic disease screening please check the Victor Center's website or call 215-456-8722 or 1-800-EINSTEIN.

Previous Columns

• March 2007: Can I Have The Keys?
• February 2007: Chain Link
• January 2007: Keeping up with child safety
• December 2006: Channukah Gifts and Meir Goyichrach
• November 2006: Strengthen Him So That He Does Not Fall
• October 2006: Redefining Success, One Year After Katrina, and Young Children & Prayer
• September 2006: First Day Of School and Preventing Cancer
• August 2006: Mazel Tov! It's A Girl and Parenting During War
• July 2006: Blessing of Family Reading and Jews, Academic Achievement & Perfectionism
• June 2006: Blessing of the Skinned Knee
• May 2006: After The Bar Mitzvah Project
• April 2006: The Four Parents

Raising A Mensch Section Editor: Dr. Flaura Koplin Winston parenting @ pjvoice.com, 
Dr. Flaura Koplin Winston is a practicing pediatrician, associate professor of pediatrics and Scientific Director of the Center for Injury Research and Prevention at the Children's Hospital of Philadelphia. She welcomes your comments, questions, contributions and suggestions for future columns.

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