WASHINGTON - 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.
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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
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
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
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.”