CLOSE-UP
Preventing A Killer
The Jewish community plans a frontal assault
on the deadly Tay-Sachs disease.
ADRIEN CHANDLER
Special to The Jewish News
A
ost people have heard of it
before — Tay-Sachs disease
— a rare, incurable, fatal
genetic disorder most com-
monly assocaited with Jews
of Eastern European or Ashskenazi
descent.
It's a disease that, in essence, suf-
focates- an afflicted child's nervous
system, choking its senses to death
with fatty "garbage" since the en-
zyme to dispose of the fat cells is not
present.
Tay-Sachs is insidious — it doesn't
show up in the parents, who are nor-
mal, healthy people. Instead, it lurks
in the genetic codes that get passed
from parent to child and may not sur-
face for generations. In the past, the
only clue that Tay-Sachs might be a
threat was a prior incident — the
birth of an affected child.
But with modern testing pro-
cedures, both before and during
pregnancy, "there's absolutely no
reason for a Tay-Sachs baby ever to be
born again," says Detroit pediatrician
Dr. Ralph Cash.
Dr. Cash, who is on staff at Sinai
and Children's hospitals, is one of
several Detroit area medical profes-
sionals determined to help stamp out
Tay-Sachs. On Jan. 15, Sinai Hospital
and The Jewish News are sponsoring
free screenings for potential Tay-
Sachs carriers — for the community-
at-large and for the Orthodox
community.
The general screenings will be at
the Maple/Drake Jewish Community
Center and at United Hebrew Schools
from 11 a.m. to 2 p.m. The Orthodox
screenings, using a different repor-
ting system, will be held 10:30 a.m.
to noon at Beth Jacob School for Girls,
1 p.m. - 2:30 p.m. at Yeshiva Gedolah,
and 3:30 - 5 at the Jimmy Prentis
Morris Jewish Center.
The pre-screening process is sim-
ple; the disease is not.
Robin Gold, genetics counselor at
Sinai, says all that's needed to test for
Tay-Sachs is a blood sample drawn
22
FRIDAY, JANUARY 6, 1989
from the arm. It takes about two
weeks to get the results. What experts
are looking for is the presence of the
telltale enzyme Hexosaminidase-A, or
hex-A for short.
A normal person has 100 percent
of that enzyme, a carrier about 50 per-
becomes a gangliocide or nerve killer
that Dr. Cash says coats the tissues
and short-circuits the passage of elec-
trical impulses carried by nerve cells,
blocking the cells' function.
As an autosomal recessive disease
(genetic, but not sex linked), Thy-
Donna Campbell
cent, an affected baby has none.
The accuracy of the hex-A blood
test has recently improved, so doctors
are urging people in high-risk groups
to be retested if a test was done five
or more years ago. "It's such a horri-
ble disease that it's worthwhile to get
it done a second time, especially if
there's a concern about childbearing'
Dr. Cash says.
'My-Sachs is one of the group of in-
herited disorders called storage
diseases. This particular condition is
one of the Lipidoses or having to do
with fat metabolism. When the hex-
A enzyme, which metabolizes nerve
cell related fat, is lacking, the fat or
lipid builds up in an abnormal
amount in the nervous system,
especially in the brain. The fat then
Sachs is transmitted much like eye or
hair color. Dr. Cash says both parents
must be carriers in order to have a
Tay-Sachs baby. Based on standard
genetic rules, a high-risk couple (both
carriers) has a 25 percent chance of
producing an affected baby with each
pregency, a 50 percent of producing a
Tay-Sachs carrier with each pregnan-
cy, and a 25 percent chance that an
infant would be normal. If only one
parent is a carrier, the couple won't
produce an afflicted baby, but has a
50-50 chance of passing on the
disease.
In the Detroit area, as well as na-
tionwide, the likelihood that an
Ashkenazi Jew is a carrier ranges be-
tween 1/25 and 1/30. In the general
population, it's approximately 1/300.