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Hidden Danger

A Jewish genetic disease comes
out of the closet.

George Cantor

Special to the Jewish News

hen Michael Klar of
West Bloomfield was
not quite 2 years old,
he began acting cranky and irri-
table. When doctors examined
him, they found that his spleen
was greatly enlarged.
He showed no other symptoms
of any diseases the doctors could
identify, including some very bad
ones. Finally, on a hunch, one of
them asked his mother, Nori, if
the family was Jewish.
"That's the first time I ever
heard of Gaucher disease she
says. "I didn't even want to let my
husband know. I was going
through chemo at that time, and
to have our youngest son come
down with a disease where bad
things might happen ... it just
seemed like it was too much to
handle."
Michael is now 10. He leads an
active, normal life, and aside
from the fact that twice a month
he must have an IV injection of a
drug called Cerezyme, there is no
evidence of illness.
"I'm seeing more patients now
than ever before who have been
identified as having Gaucher,"
says Dr. Leopoldo Eisenberg, a
hematologist who handles more
Gaucher cases than any other
physician in the Detroit area.
"But because it is a genetic dis-
ease, and the most common form
of it is associated with Jews of
Eastern European ancestry, there
is still something of an old-coun-
try stigma attached to it. Many
people don't want to know if they
have it. And once they find out,
they don't want anyone else to
know!"
Even though Gaucher is
believed to be the most wide-
spread genetic disorder affecting
Jews, most people are like Nori
Klar. They never heard of it until
they're told they have it.
That was certainly the case
with me, when Dr. Eisenberg told

W

October 6 2005

me that's what was making my
spleen swell to 20 times its nor-
mal size and my white blood cell
count plummet.
That was eight years ago, when
I was already well into my 50s. I
have been on Cerezyme ever
since. While Gaucher caused my
hip to fracture two years ago, the
overall results have been excel-
lent.
Dr. Eisenberg says that this
wide variation is not unusual.
"The disease takes different
courses, depending on the pene-
tration of the gene. The more
aggressive form can manifest
itself in infancy, while some peo-
ple can walk around with
Gaucher their entire life and
never know."
Gaucher was first identified by
a French medical student (for
whom it is named) in 1882. The
condition is caused by the lack of
an enzyme which enables the
blood to dispose of fatty sub-
stances. Instead, they accumulate
and the cells they form can go on
to attack the spleen, liver and
bone marrow — especially the
weight-bearing bones.
Before the development of a
treatment, the most common
course was to remove the
patient's spleen. But that only
addressed a symptom, and the
disease often would go on to
attack the liver. When undetect-
ed, it can make people tired, sub-
ject them to bleeding and cause
excruciating pain in the legs and
hips, with fractures often result-
ing.
"It took my two brothers who
are physicians to calm me down
when we got the diagnosis:' says
Nori. "But when I found out what
it was — and more important
that there was a treatment for it
— things looked a lot better. But
we still didn't tell our parents and
when I finally told my husband,
Mark, his face changed colors."
In order for Gaucher to be

Lois Huron, Allied Member ASID • 248-851-69891

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1034040

We wish our family & friends a very

healthy, happy and sweet New Year.

Hidden Danger on page 28

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