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104
CELEBRATION
:• CONNECTION,
.DIRECTORY
in our Classified Section
Slow Improvement
A rare Jewish genetic disease takes a young life,
but researchers are closing in on the cause.
RUTHAN BRODSKY
Special to the Jewish News
T
mother, [Sandy]" explains Rachel's
father, Dr. Keith Reich. "My wife
told him about Rachel, her slow .
growth, her lack of coordination, her
problems with swallowing.
"Maybe he made the diagnosis
because there's a large Ashkenazi
Jewish population in the Chicago
here is no cure for familial
dysautonomia (FD). It is a
rare and sometimes fatal
disease that affects only
Jewish babies of Ashkenazi descent.
Some 545 cases have been
diagnosed worldwide in the last
30 years: one-third in Israel,
two-thirds in the United States,
Rachel Reich died Aug. 6.
and a scattered few in other
countries.
It is present at birth in male
and female babies and signals a
dysfunction of the autonomic
and sensory nervous systems,
the systems that control such
basic functions as blood pres-
sure, body temperature, swal-
lowing and digestion.
There are no warning signs
or symptoms in carriers.
Moreover, unlike the better-
known Jewish disorder, Tay-
Sachs, there is no current pre-
natal diagnostic or carrier test.
Medical research hasn't found
the gene that carries it.
The good news is that
progress has been made in the
last several years and the gene
site is now narrowed down to a
small area. The search contin-
ues and at annual FD fund-
' raisers across the country,
speakers plead for more money
to continue the research.
area and he was aware of the disease.
FD patient Rachel Reich died this
"I only wish it had been recog-
summer at the age of 14. Originally
nized earlier. We could have prevent-
from the Detroit area, her family
ed some of the early problems that
moved to Chicago when Rachel was
had an impact on the rest of her life
4. She had been very ill in her early
— the ulcerated eyes, the pacemaker,
years with bouts of pneumonia, irreg-
and the degeneration of the kidneys."
ular heartbeats and ulcerated eyes.
Rachel's parents are both carriers of
Her parents knew something was
the gene that causes FD. The Reiches
wrong from infancy and sought help
embody the statistic that most of us
from local physicians and specialists
don't think about when we read that
across the country.
one out of every 30 Ashkenazi Jews
One week after moving to
carries the defective gene. One in
Chicago, Rachel was diagnosed with
every 900 Ashkenai Jewish couples is
familial dysautonomia. "The general
at risk. If an at-risk couple conceives
pediatrician listened to Rachel's
a child, there is a 25 percent chance
the child will be born with FD.
"I don't think there would be that
kind of misdiagnosis today," says Dr.
Gary Trock, director of child neurology
at Beaumont and St. John hospitals in
metro Detroit.
"Most children are rigorously exam-
ined and receive regular medical care,"
he said. "Symptoms such as an
unsteady gait, lack of response to pain
and temperature, breath-holding
episodes, and difficulty swallowing are
unlikely to fall through the cracks
today.
"The medical community is more
aware of genetic diseases in general
and in particular those found in spe-
cial communities such as larger
Jewish populations in urban areas,"
Dr. Trock added.
Sandy Reich quit working; taking
care of Rachel became her full-time