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ORCHARD MALL Maple at Orchard Lk. Rd. 855-4065

Rare Genetic Disease
Strikes Ashkenazi Jews

CAREY LONDNER

Special to The Jewish News

S

oon after giving birth
to her daughter Susan
ten years ago, Joan
Stein [not their real names]
knew something was wrong.
But her attempts to find out
what that "something" was
were difficult and
frustrating.
"This was our first child,"
Stein explained in a tele-
phone interview. "We were
taking her to the pediatri-
cian on a regular basis.
"Her eyes were crossed.
She was not bearing any
weight on her feet . She
would be limp. The doctor
said she was spoiled, and not
to pick her up all the time."
The Steins then took their
daughter from doctor to doc-
tor. A friend recommended
she see a neurologist, and
"the neurologist didn't know
what it was either," Stein
recalled.
Finally, at age 15 months,
Susan was taken to Mt. Sinai
Medical Center in New York
City for a complete medical
workup, taking biopsies of
her eyes and skin. "Ironical-
ly, there was a geneticist
from Hadassah Medical
Center [in Jerusalem] at Mt.
Sinai," Stein said, who di-
agnosed Susan as having
mucolipidosis.
That geneticist turned out
to be al* ssistant to Dr. Gi-
deon Bach, who heads the
genetics department at
Hadassah. Bach was the
first to publish findings on
the genetic disease
Mucolipidosis IV, the rarest
and most recently discovered
of the genetic diseases found
most commonly in
Ashkenazi Jews.
Only about 20 patients
have been diagnosed with
the disease, which was first
described in 1974, in the
United States to date, accor-
ding to the National Foun-
dation for Jewish Genetic
Diseases.
Stein was stunned to
discover that her daughter
had inherited this rare
disease which she had never
heard of before.
"This was a total shock,"
she said. "This is a genetic
disorder, but nobody in the
family knew of anything like
this."
Susan's symptoms seemed

'

Carey Londner is a staff writer
for MetroWest Jewish News in
East Orange, N.J.

64

FRIDAY, APRIL 27, 1990

to match the description of
the illness given in founda-
tion literature. Children
with the ailment are normal
at birth and develop signs of
central nervous system dete-
rioration during the first
year of life.
The earliest sign is
clouding of the corneas, and
there is also crossing of the
eyes. There may be mental
retardation and a deteriora-
tion of motor skills.
According to the founda-
tion, these physical and
mental difficulties stem from
a defect in the breakdown of
complex fatty substances
called gangliosides at-
tributed to Mucolipidosis IV.
For the disease to be in-
herited, both parents must
be carriers of the ML — IV
gene. Although both parents
are normal, being carriers of
the gene, they have a 25 per-
cent risk for an affected child
with each pregnancy.
There are prenatal tests
for ML-IV, but no tests at
present to determine
whether an individual may
be a carrier, Stein said. This
is the focus of research being
conducted on ML — IV
Bach.
"At present, no specific
therapy is available for this
disease," the foundation lit-
erature states. "However,
optimal supportive care and
medical management can
significantly improve the
quality of life for affected
children."
Susan's attempt at a better
life are focused around at-
tending a special vocational
school, receiving physical
therapy four times a week
and occupational therapy
three times a week. Aca-
demically, "she's recogniz-
ing letters, recognizing
numbers, her name, primary
colors, identifying people in
the family, identifying
animals," her mother says.
"Socially and emotionally,
she doesn't know what it's
like to be a healthy child, so
she's a happy kid the way
she is. She doesn't go to
movies, because her atten-
tion span wouldn't allow
that. She enjoys watching
Sesame Street because
there's a lot of diversion."
When the experience of
having a handicapped child
becomes difficult, the Steins
have several sources of
strength and support. They
are active in the
Mucolipidosis IV Founda-
tion, founded by Lynn
Goldblatt about six years