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November 16, 1990 - Image 48

Resource type:
The Detroit Jewish News, 1990-11-16

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Dysautonomia clouds
the future of these
Jewish families.



Special to The Jewish News

Rachel Reich, age 5 1/2 and afflicted with dysuatonmia, sits on her father's lap.



achel Reich is no
stranger to hos-
pitals. She's been
on the inside ma-
ny times in her
five years, leapfrogging from
one medical crisis to another.
Her parents, Keith and
Sandi Reich, former
Detroiters now living in
Chicago, describe their
daughter as a sweet, happy,
well-adjusted little girl — full
of love and energy — a real
trouper. But they always have
to be on guard; Rachel is a
walking time bomb.
At any moment, she can
become deathly ill. Her blood
pressure can drop precipitous-
ly. Her lungs can fill with
fluid. She can have an attack
of uncontrolled retching and
Her autonomic nervous
system — the body's regulator
of temperature, breathing,
heart rate and digestion —
functions erratically. Excite-
ment, agitation or a good cry
can trigger a dangerous
And even if Rachel wanted
to shed a tear or two, she
can't. She has none.
Rachel suffers from a ge-
netic disease called familial
dysautonomia — a rare and
often underdiagnosed neuro-
logical condition associated
with Jews of Ashkenazi des-
cent. The disease occurs when
the neurological development
of a fetus short-circuits,
possibly due to a problem
with a nerve growth
developmental arrest," says
Dr. Ralph Cash, a Detroit
area pediatrician who sits on
the medical advisory board of

the national FD Foundation.
"The development of the
autonomic nervous sytem is
abnormal and slows down or
ceases sometime late in
And as with any "short cir-
cuit," things can go haywire
at anytime. "It's like the en-
tire nervous system suddenly
forgets how to behave," says
Dr. Felicia Axelrod, director of
the Dysautonomia Treatment
and Evaluation Center at the
New York University Medical
Center. Dr. Axelrod manages
some 400 dysautonomia cases
around the world.
The characteristics of
dysautonomia are varied.
Cases can range from mild to
severe, but share common
symptoms: no overflow tears,
a lack of response to pain and
temperature (a child could be
seriously injured or burned
and _not know it), absence of
taste buds, unstable blood
pressure and body
temperature, uncontrollable
vomiting attacks, repeated
pneumonia, impaired swal-
lowing, poor muscle tone and
skeletal defects, often leading
to curvature of the spine.
One early indicator is if a
full term infant has trouble
Since dysautonomic chil-
dren don't swallow properly,
any liquid they consume is
often misdirected and
aspirated — taken into the
lungs — causing the chronic
"What shortens the lives of
dysautonomia victims is the
lung damage:" says Dr. Alex-
rod. "The major cause of
death is aspiration
The disease used to have a
high mortality rate. Fifty per-
cent of all children with
dysautonomia would die by

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