Susan and Brad Stillman grew concerned following their son Benjamin’s birth in September 1998. He was fussy and congested, had difficulty breastfeeding and didn’t take to the bottle.
The parents brought him to the pediatrician and then to a hospital pediatric care unit near their home in Rockville, Md., a suburb of Washington.
Benjamin soon was diagnosed with Riley-Day syndrome, now called familial dysautonomia, a genetic disease of the autonomic nervous system that disproportionately strikes Ashkenazi Jews.
When the Stillmans got married in 1995, they were tested for Tay-Sachs disease, the only genetic disease prevalent among Ashkenazim for which screening was available, and neither parent was found to be a carrier or to have the disease.
“Ignorance was bliss,” Susan Stillman said. “We had no idea we were carriers for FD.”
Today, tests are available for 19 chronic conditions that are known as Jewish genetic diseases, including familial dysautonomia. Testing capabilities have risen dramatically: Just one year ago, individuals could be tested for 16 conditions; in 2009, the number was 11. Among those conditions, in addition to FD and Tay-Sachs, are cystic fibrosis, Gaucher disease, Canavan disease and Niemann-Pick disease.
Organizations dealing with Jewish genetic diseases are intensifying their efforts to educate Ashkenazim of childbearing age about the need to be screened for all 19 conditions with a single blood test, and to update tests that have already been conducted. The experts view this as a serious communal health issue, with one in five Ashkenazim estimated to be a carrier of at least one of the 11 diseases that could be tested for in 2009.
A study by New York University’s Mount Sinai School of Medicine in Manhattan found that significant numbers of New York-area Ashkenazim —one in every 3.3 — are carriers of at least one of the 16 diseases tested for last year.
A carrier rate of one in 100 for an individual disease would be “of concern,” said Dr. Adele Schneider, director of clinical genetics at Philadelphia’s Victor Centers for Jewish Genetic Diseases.
As with any genetic disease, when both parents are carriers, each of their children will have a 25-percent likelihood of being affected; the more diseases for which each parent is a carrier, the greater the odds of the children being affected.
“If you and your spouse find out that you’re carriers, you may not want to take that one- in-four chance,” said Karen Litwack, director of the Chicago Center for Jewish Genetic Disorders. “It’s a terrible ordeal for parents to go through. From a Jewish community standpoint, there’s a general consensus that education and outreach will, hopefully, prevent this kind of thing from happening.”
Experts in Jewish genetic diseases are seeking to promote awareness of the potential problems, because screening before a pregnancy can offer options for preventing or dramatically reducing the chance of a child being born with a disease. The four main alternative options are utilizing a sperm donor; utilizing an egg donor; pre-implantation genetic diagnosis (in-vitro fertilization of the mother’s egg, analysis of the embryo, and implantation only if the embryo is healthy); and even aborting a fetus affected by both parents’ disease-carrying genes.
“Screening is protecting future generations,” said Randy Yudenfriend-Glaser, who chairs the New York-based Jewish Genetic Disease Consortium. She is the mother of two adult children with mucolipidosis type IV, one of the known Jewish genetic diseases.
“When you’re young and getting married, you don’t want to know about it because it’s scary,” she said. “But you should want to know about it.”
Experts also emphasize the need for each carrier to be screened prior to each pregnancy to account for additions to the screening panel in the interim.
Several organizations are expanding their outreach to rabbis and Jewish communal leaders to enlist their help in persuading prospective parents to get tested. Even doctors don’t push sufficiently for testing, representatives of these groups say.
The Victor Centers’ survey in April of 100 Atlanta-area obstetricians, gynecologists, primary care physicians and pediatricians found that only 51 percent routinely recommend preconception screening, and just 34 percent recommend updated screenings between pregnancies. Not a single respondent reported recommending screening for more than six of the 19 known diseases.
The findings were “stark” and “very worrisome,” said the Victor Centers’ national project director, Debby Hirshman.
The agency’s Atlanta Jewish Gene Screen program has secured the agreement of area rabbis to distribute fact sheets to the 17,000 congregants expected to attend High Holiday services next month.
The Jewish Genetic Disease Consortium, with the support of the New York Board of Rabbis, last September inaugurated a clergy awareness program.
Several rabbis have taken the effort to spearhead educational efforts into their own hands. Rabbi Peter Kasdan, a Reform rabbi from New Jersey who has moved to Florida in retirement, has made it a requirement that couples undergo testing before he performs their weddings. Rabbi Larry Sernovitz of Philadelphia’s Old York Road Temple-Beth Am, whose son was born with familial dysautonomia, successfully lobbied the Union for Reform Judaism to host a session on Jewish genetic diseases at its upcoming convention in Washington. Rabbi Joseph Eckstein, who lives in New York, lost four children to Tay-Sachs disease, and in the 1980s he founded Dor Yeshorim, a Brooklyn-based organization that promotes screening in Orthodox communities.
In August, the Victor Centers rolled out an iPhone and iPad application it has developed with information on Jewish genetic diseases.
The outreach efforts mean a lot to Stillman. Last week, she spoke about her situation during a panel discussion at the 31st IAJGS International Conference on Jewish Genealogy in Washington. Stillman described her son as a sweet, loving child. Benjamin, who is entering the eighth grade, plays piano and plans to celebrate his bar mitzvah in September. But he’ll always have to eat through a feeding tube and to receive daily medication.
Stillman isn’t sure if Benjamin can live independently, marry or have children.
“I don’t know how long my child will live. I can’t look too far down the road—only half the kids live to age 30,” she said of those diagnosed with familial dysautonomia. Her presentation at the genealogy conference, Stillman said, had one goal: raising awareness.
“It can happen to you,” she said. “I am a regular person. It happened to me.”