COVER STORY
Genetic testing advocate Pauline Fine of Oak
Park holds a photo showing her family, including
a son and 'daughter who died of ,familial dysau-
tonomia, a genetic disease that strikes Jews of
Eastern European descent.
For The .Children- •
Jewish genetic diseases can be prevented.
Shelli Liebman Dorfman
'FOR. THE CHILDREN - I - PG!
Jewishgenetiediseses
-On be prevente.ti
Staff Writer
p
auline Fine never goes
anywhere without the
memory of decades of
caring for a son and daughter
with a genetic illness, the
anguish of their deaths — and
printed information to make oth-
ers aware of how they can help
ensure no other parent lives her
nightmare.
Two of her four children died
from the fatal Jewish genetic ill-
ness, familial dysautonomia (FD),
and Fine says she became an
incessant advocate, "doing every-
thing I could to try to save even
one family from this terrible
tragedy."
For many years, she has dis-
tributed pamphlets and fund-
raised for donations to benefit -
research and has prayed for a
cure for the devastating illness.
No cure has been discovered
yet, but advancements include
treatments that help improve life
quality for those affected, a suc-
cessful prevention procedure and
identification of FD carriers
through newly available testing.
• "Because of research and peo-
ple like Pauline and because
enough doctors were astute
enough to use the new testing, in
the year 2005, there were no
babies born in the United States
with familial dySautonomia," said
Maryon Weill, assistant executive
director of the New York-based
Dysautonomia Foundation.
FD is a progressively debilitat-
ing disease that causes dysfunc-
tion of the autonomic and senso-
ry nervous systerhs. It is one of a
group of illnesses that hit the
Jewish population — mostly Jews
of Eastern European descent —
especially hard. Tay-Sachs may be
the best known; others include
Cystic Fibrosis, Canavan Disease,
Fanconi Anemia, Glycogen
Storage (Type la)-Von Gierke
Disease, Bloom's Syndrome and
Gaucher Disease.
"Not all genetic conditions
more commonly identified in
Jewish individuals are severe or
lethal:' said Dr. Bernard Gonik, a
Detroit-based obstetrician-gyne-
cologist with a subspecialty in the
field of maternal fetal medicine.
"For example, Gaucher Disease is
quite variable in its presentation,
with treatment — although a not
cure — available."
A Bombshell
In the late 1950s, when pine
started having children, no test
existed for FD. Now, blood tests
can determine if parents-are car-
riers for a host of genetic illness-
es.
Almost immediately after the
birth of her first Child, Joel, Fine
knew something was wrong
because he couldn't swallow or
take nourishment.
"His pediatrician, [the late] Dr.
Samuel Bernstein, had had a pre-
vious patient with FD, so he rec-
ognized right away what it was:'
said the Oak Park resident.
. The Fines were stunned.
Unknown to them, Pauline and
her husband, Morris, were both
carriers of FD. As with other
Jewish genetic illnesses that are
carried through recessive genes,
Weill said,"a carrier has no
symptoms or warning signs." If
both parents. are carriers, there is
a 25 percent chance, with each
pregnancy, that the child will be
affected with FD.
Joel had three sisters — two
were born healthy; one also had
FD.
"The doctor didn't have to tell
me Susan had it',' Fine said. "I
Genetic on page 16
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