In love, married - and contemplating starting a family.
Nikki and David Bernstein will be tested for a panel of nine Jewish genetic diseases at the third annual screening sponsored by the newly renamed Jewish Genetic Diseases Center of Greater Phoenix. The testing is set for March 11 at the Ina Levine Jewish Community Campus in Scottsdale.
Married a little more than a year and a half, Nikki, 35, who grew up in the Valley, and David, 37, who grew up on Long Island, met in Manhattan and moved to Phoenix to start their life together. Nikki works in real estate development, David is a physical education teacher in Scottsdale; both are of Jewish-Ashkenazi descent.
Nikki says her doctor recommended that the couple be tested for the group of diseases shown to be prevalent among Ashkenazi Jews. She says that the information will help the couple make informed decisions as they consider pregnancy.
"We'll know where we stand if anything has been passed on from our families," adds her husband.
This is the third year the screening is being made available to Valley residents. The project has been expanded to test for nine diseases, compared with the original four - Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, Gaucher disease, mucolipidosis IV, Niemann-Pick disease and Tay-Sachs disease. The subsidized fee is $50; if tested privately, costs would exceed $2,500.
Communal partners involved in initiating and implementing the project include Jewish Family & Children's Service, Council for Jews with Special Needs, the Young Leadership Division of the Jewish Federation of Greater Phoenix, the Deutsch Family Shalom Center at Temple Chai, Hadassah Valley of the Sun Chapter and St. Joseph's Hospital and Medical Center. Funding has come from grants from the Jewish Community Foundation, St. Joseph's Hospital and Medical Center as well as private donations, including a grant this year from the Desert Foothills Jewish Community Association.
The project, recognized with the 2006 Belle Latchman Community Service Award, has also recently incorporated as an independent nonprofit corporation and is pursuing affiliation as a constituent agency with Jewish Federation of Greater Phoenix.
The new status will elevate the profile of the project and enhances its credibility, says Andi Minkoff, who founded the program with her husband, Sherman.
Ann Bogle, a genetic counselor who will participate at the community event for the third year, emphasizes the importance of testing young couples, such as the Bernsteins, before they begin their families.
"It is optimal to test young adults," she says. Bogle explains that the diseases tested are autosomal recessive: If both parents carry the gene for one of the diseases, there is a 25 percent risk that they will have a child with the condition; if only one parent carries the gene, there is a 50 percent risk that the child will be a carrier.
Bogle says that if individuals or couples know that they are carriers, they can choose to consider new reproductive technology before they start their families. Medical techniques, such as pre-emplantation genetic diagnosis, allow for testing in vitro, using a cell or two from a fertilized egg to test for genetic dissonance.
"Couples can make a decision very early on," she says of the process, avoiding the heartbreak of giving birth to a child with a fatal disease or debilitating disability or confronting the wrenching decision of terminating a pregnancy.
"This is so satisfying," she says of the effort to reach and test young adults of childbearing age.
Carol Talmon, one of the group of phlebotomists who have offered their services to the screening each year, agrees. "I understand both the medical and emotional importance of identifying carriers," says Talmon, an Ashkenazi Jew with family members who are Tay-Sachs carriers. "I would love for the day to come when everyone became aware, and no longer will we have to watch the suffering of children and families from these diseases."
The center's mission, say the Minkoffs, is to raise awareness, educate and provide communitywide screening.
This year, say the Minkoffs, the educational component of the program has been streamlined. Information will be mailed to participants, who will be asked to pre-register and make an appointment for the testing. They will be asked to read the information prior to the March 11 event when Bogle and other genetic counselors as well as Rabbi Darren Kleinberg, spiritual leader of KiDMa-The Southwest Jewish Community, will be available to answer questions and address concerns. In previous years, an educational forum was held at the event.
Participants sign an informed consent form before proceeding with the test.
Kleinberg, father of Laila, 4, with another child on the way this spring, was tested last year. His wife, Debra, had previously been tested.
He reiterates the importance of testing before pregnancy and explains that some rabbis, himself included, now require that couples be tested before they marry.
"It is one of those things you need to know before you decide to have a family," he says of the screening, which will show an individual's predisposition to the panel of diseases.
He also says that Jewish law allows for procedures, such as pre-emplantation genetic diagnosis, that would help assure that couples give birth to healthy children.
"We are empowered to use all the (medical) tools we have so that we can choose between life and death," he says. "We have a responsibility to bring into this world the most healthy children we can."
Becca Hornstein, CJSN executive director, notes the need for medical and spiritual resources as part of the program.
"The decision to test is a weighty one," she says. "You have to be prepared to deal with the results."
Participants receive test results by mail; those testing positive will receive a telephone call from one of the medical professionals associated with the program and information about seeking out additional counseling resources.
Approximately 200 people have been tested by the center to date, with 34 individuals identified as carriers of one of the diseases, say the Minkoffs.
The Bernsteins, recognizing the emotional impact of testing positive, say that being tested and confronting possibilities intellectually will help them deal with the emotional aspects.
"It will give us perspective," says Nikki Bernstein, "and help us make the right decision for our family."
Details
What: Jewish Genetic Diseases Education and Screening Event
Who: Jewish Genetic
Disease Center
When: 10 a.m.-4 p.m.
Sunday, March 11
Where: Ina Levine Jewish Community Campus, 12701 N. Scottsdale Road, Scottsdale
Cost: $50 for those under the age of 45; $300 for those age 45 or older; pre-registration required by March 5.
Contact: Kathy Rood, Jewish Family & Children's Service, 602-452-4627
