By Marshall Weiss, The Dayton Jewish Observer

Randy Glaser is the first to admit Jewish genetic testing is a frightening topic.

“When you advertise a program about BRCA (hereditary breast and ovarian cancer), you’ll have full attendance a lot of times,” Glaser, chair of the national Jewish Genetic Disease Consortium, said at a community information session cosponsored by the DJCC at the Boonshoft CJCE on Nov. 13.

“Women come running to that conference because they’re scared for themselves, they’re afraid of what could happen to them, what will happen to their family, to their sisters,” she said. “But when you talk about children and what people can pass down to their children, people get scared. They get scared and unfortunately they shut down.”

Of the 30 or so people who showed up for this evening program, virtually all were over the age of 50.

One of the youngest people in the room was panelist Rachael Cross of Dayton.

Her son, Joey, was born in 2007. He died 31/2 years later of Tay-Sachs.

“I knew something was wrong with my son probably at 10 or 11 weeks,” Cross told the group. “And I always just wondered why he didn’t respond the right way — he didn’t give me the eye contact that I craved.”

She said several of her friends who are doctors told her not to worry, not to be “that mom.”

Cross took Joey to doctors constantly. A neurologist wondered why Joey would angle his head. Thinking it might be an eye disease, he referred Joey to an ophthalmologist.

“So we went in, he was about 11 months,” Cross said, “and the first question he asked me after he dilated him was, am I Jewish. And I looked at him and said there’s only one disease I could really think of and that’s not possible because my husband’s not Jewish.”

“The most important point of today to get across is that all couples of childbearing age with any type of Jewish heritage should consider screening,” said Shari Ungerleider, JGDC’s program coordinator. “If one person in a couple has any Jewish heritage — interfaith couples, couples that really don’t consider themselves Jewish, have converted — everybody should be screened for Jewish genetic diseases.”

Glaser and Ungerleider came from New York for a day of medical rounds in the Dayton area with geneticists and OB/Gyns, a meeting with local rabbis, and the evening community program.

“Randy and I are both parents of affected children,” Ungerleider said.

Cross’ mother, Judi Grampp, arranged JGDC’s visit.

“All the diseases we’re talking about here are autosomal recessive diseases, which means both parents need to be a carrier of the same gene,” Ungerleider said.

If each parent is a carrier of the same disease, there’s a one in four chance of having a child with that disease for each pregnancy.

“All of them are devastating diseases,” she added.

“When you’re given the diagnosis that your child is not going to live beyond 5 or that long, you have to fill a lot of life in that short time, those short years with your child,” Cross said.

Screen before pregnancy
Ungerleider emphasized that screening before pregnancy is optimal; it gives the couple the most choices to have a healthy family.

“Typically the woman, if she’s Jewish, will be screened first, because she has a relationship with an OB/Gyn, and it’s easier insurance coverage,” Ungerleider said.

If the woman is not a carrier, the man doesn’t have to be screened. But if the woman is a carrier, the man would be screened for the diseases she carries.

“If the man is of Jewish heritage, he should be the one screened first,” Ungerleider said. “The screen is always more accurate when you’re doing it on the person who has the most Jewish heritage.”

She said that wherever a couple decides to get screened, they should have a physician, geneticist or genetic counselor read and interpret the report.

“It’s important to ask for a copy of your records, so make sure you keep that in a safe place,” she added.

The couple won’t have to be screened again for diseases they were already screened for, but with subsequent pregnancies, new diseases may be added to the screening panel, so they should be screened for the new diseases that have been added.

“Being a carrier doesn’t impact you at all except you can pass this gene on to your children,” Ungerleider said. “If you and your spouse are found to be carriers of the same disease, there are options for you to build a healthy family. Nobody should believe that they cannot have children or should not have children. Genetic counseling is probably the most important thing to help you determine the best option.”

Ungerleider said options for a couple in which both partners are carriers for the same disease are:

• Get pregnant on their own followed by prenatal diagnosis

• In vitro fertilization with pre-implantation genetic diagnosis

• Donors for sperm and egg that have already been screened for Jewish genetic diseases

• Adoption

• Choose not to marry (common in the Orthodox community)

“For people who say it doesn’t matter (if they’re carriers), it’s important to know when they choose to have that child, because some of these diseases have intervention early on, such as Maple Syrup Urine disease, there are dietary limitations, or diseases like Bloom syndrome,” Ungerleider said. You’ll also see the child for months and months or years and years of going from doctor to doctor wondering what is wrong with them.”

If the woman is already pregnant, she and the father should be screened as early as possible and at the same time, “because the turnaround time is about two weeks and you could be pretty far along into the pregnancy,” Ungerleider said.

Dr. Marvin Miller, a pediatric geneticist with Dayton Children’s Hospital and a panelist on the program, pointed out that genetic testing provides people with information about whether their risk is reduced or increased but does not provide absolute certainty about outcomes.

“Some of these tests are mutation tests,” he said. “And they don’t test for every mutation, they just test for the ones represented in Ashkenazi (Eastern European Jewish) people. Rare things happen.”

Educating rabbis
Cross said she grew up in the Jewish community thinking of Tay-Sachs as a Jewish disease.

“I married someone who was not Jewish and I never heard that it’s not a Jewish disease — that these are diseases in the general population — it just had a higher predominance in the Jewish community,” she said. “So to me, it’s the responsibility of the educators of Judaism to educate everyone to know that it is not just a Jewish disease.”

Ungerleider said JGDC’s meeting with Dayton’s rabbis was part of its initiative to meet with as many rabbis across North America as possible.

“When people marry, they typically meet with a rabbi for pre-marriage counseling sessions, and even if they are interfaith couples, many couples — even if they don’t use that rabbi — they might meet with a rabbi,” Ungerleider said.

“We try to meet with the board of rabbis in an area to help them learn about the genetics and how they might begin to introduce this to a couple.”

Panelist Rabbi Karen Bodney-Halasz of Temple Israel attended the meeting with the rabbis earlier in the day and also heard the JGDC’s presentation at a Union for Reform Judaism biennial.

“I know there are so many OB/Gyns who don’t ask the questions as far as what is your genetic history,” Bodney-Halasz said. “I ask couples if they recognize that it’s not something to be afraid of, but it’s something that can empower them as parents. It doesn’t mean they can’t have children. It simply means there are ways to ensure this is going to be a healthy pregnancy and the right decision for your family.”

Before Joey died, Cross and her husband adopted a girl.

“We chose not to pass that down,” she said.

For more information about genetic screening, go to JewishGeneticDiseases.org.

For the print version of the December 2013 Observer, click here.