48

Friday, May 10, 1985

THE DETROIT JEWISH NEWS

TAIT
S
ACHS:
The Genetic Killer

I

t wasn't easy for Gary and Bob-
bie Miller of Weit Bloomfield to
have two healthy children.
Gary, a certified public ac-
countant, and Bobbie, a realtor
associate, are both carriers of a Tay-
Sachs gene. The Millers have a one-
in-four chance that each pregnancy
will result in a child afflicted with
Tay-Sachs.
Tay-Sachs is a genetic disorder in
which there is an abnormal accumula-
tion of fatty materials in the cells of
the brain,.resulting in the gradual de-
struction of the brain. Just when a
child begins to sit up at five or six
months old, he gradually regresses. By
16 months, the child has frequent con-
vulsions and is blind. At 21/2 years, this
listless child can no longer swallow
food, and is fed through plastic tubes.
By the time the child is 4, he succumbs
to a gradual death with no memories of
a normal existence.
There is no cure for this tragic,
fatal disease which is 100 times more
common in the Jewish Askenazic (cen-
tral and eastern European ancestry)
population than in the non-Jewish cul-
ture. One in 25 Askenazic Jews are
carriers. But both parents must be car-
riers to produce a Tay-Sachs child.
, According to Dr. Lester Weiss, di-
rector of the Medical Genetics and
Birth Defects Center at Henry Ford
Hospital and the Detroit Metropolitan
Area Tay-Sachs Screening Program,
one in 900 Jewish couples are at risk.
There are possibly 20 couples in the
Detroit area at risk, based on the
Jewish population of 65,000 with
22,000 of child-bearing age.
High-risk couples, like the Mil-
lers, have a 25 percent chance of pro-
ducing a Tay-Sachs child. All healthy
offspring of high-risk couples have a
50 percent chance of being a carrier.
Carriers show no signs of Tay-Sachs
disease or any other disorder.
Tay-Sachs disease has been kil-
ling children for centuries. The disease
was first isolated by Warren Tay, a
British opthamologist in 1881. The
findings were expanded in 1896 by
Bernard Sachs, an American
neurologist. A major breakthrough oc-

Some simple tests
have reduced the
incidence of this
mainly 'Jewish' disease.

BY CARLA JEAN SCHWARTZ
Special to The Jewish News

curred in 1969 when Dr. John O'Brien
and Dr. Okada, of the University of
California at San Diego, discovered
that Tay-Sachs is caused by a missing
enzyme called Hex-A. Although there
is no cure for the disease, there is hope. •
The hope is prevention. A simple
blood test can determine a carrier. For
high-risk couples, a prenatal diagnosis
is available through amniocentesis.
This is a relatively safe and simple
procedure. About the 16th week of
pregnancy a needle is inserted into the
uterus, drawing out amniotic fluid —
the fluid that surrounds the fetus.
Fetal cells grown in cultures will iden-
tify if the unborn child has Tay-Sachs.
The results take two-four weeks.
An experimental procedure called
chorionic villus sampling (CVS) pro-
duces results in one-two weeks. In
CVS, tissue is taken from the placenta
about the tenth week of pregnancy.
The only group in Michigan permitted
to perform CVS by the Federal Drug
Administration is supervised by Dr.
Mark I. Evans, Director of obstetrics
and gynecology at Wayne State Uni-
versity, based at Hutzel Hospital.
Dr. Ralph Cash, chief of pediatrics
at Sinai Hospital of Detroit, has seen
several Tay-Sachs children in his
practice but not recently. "The disease
itself could be wiped out completely by
means of Tay-Sachs screening," states
Cash.
Genetic counseling and am-
niocentesis tests enabled the Millers to
have two healthy children. Without

any knowledge of Tay-Sachs disease,
there would have been another Miller
child — a child whose life would have
been dramatically shortened by a
genetic killer — Tay-Sachs disease.
Bobbie and Gary Miller first
heard about Tay-Sachs disease ten
years ago when Gary's sister- partici-
pated in a Tay-Sachs screening pro-
gram conducted by Sinai Hospital of
Detroit, the Genetic Counseling Clinic
of Henry Ford Hospital and the Jewish
Community Foundation. This mass
screening program has tested nearly.
6,000 people in the metropolitan De-
troit area. Gary's sister was identified
as a carrier, and she was advised to
contact all relatives to ask them to be
tested.
The Millers knew they wanted to
have children and a few months later
they participated in a mass screening.
They were told that the results were in
a "gray area" and they needed to be
retested.
"We knew something was up, but
we didn't want to think the worst, so
we sort of naively said, 'Well, we're in
this gray area,' " recalls Gary. For the
retest, the Millers went to the Henry
Ford Genetic Counseling Clinic. Bob-
bie remembers that five vials of blood
were taken — several more than at the
mass screening.
A few weeks later, Gary received a
phone call from Dr. Weiss, informing
him that he and his wife were both
carriers. "Immediately, I felt like
someone shot me. I was shaken," said

Gary. The shock carried to the entire
Miller family. Siblings and cousins
were tested and other carriers were
discovered.
For the Millers, the results meant
genetic counseling. It also meant that
every pregnancy would be clouded
with anxiety. But, Dr. Weiss reassured
the Millers that they could have a
healthy baby.
"We felt from an intellectual
standpoint so fortunate that they had
the testing and that we did not have to
experience this without knowing,"
says Bobbie.
Nine years ago Bobbie Miller had
amniocentesis with her first preg-
nancy. Waiting almost four weeks for
the results was very difficult. "It is a
tremendous mental burden," says Dr.
Donald Blitz, the Miller's gynecologist
and obstetrician for the last ten years.
When the Millers received the results
of no evidence of Tay-Sachs disease,
they were ecstatic.
The next pregnancies were not so
smooth. Four years later, Bobbie had a
miscarriage. "My gut feeling was that
the miscarriage was my Tay-Sachs
baby and everything was going to be
wonderful," said Bobbie.
But her intuition was wrong. Her
next pregnancy was within a few
months of the miscarriage, and the
amniocentesis test showed Tay-Sachs
disease.
The Millers' next decision was
carefully planned. This was a decision
they had discussed for nine years, but
never had to make.
Gary Miller cannot discuss the
experience. It is a blur — a fuzzy mem-
ory that he never wants to remember.
For Bobbie, it is a memory that will
never leave her. She had a therapeutic
abortion in the 22nd week of her preg-
nancy. Between silence and tears Bob-
bie says, "I have a lot of compassion for
a woman who has delivered a stillborn.
It is a tremendous loss and a difficult
experience."
But Bobbie is a determined and
optimistic person. After what she de-
scribes as a "mourning period," she
knew she was ready to try again. And
everything went perfectly. The Millers
have another healthy, beautiful child.