14 October 10, 1975
THE DETROIT JEWISH NEWS
Familial Dysautonomia
A young Jewish couple,
both of Eastern or Central
European descent, are de-
lighted with the prospect of
having a family. When the
wife bears her first child,
doctors notice a fixed stare
on the infant's face. The
child has trouble with basic
instincts, sucking and swal-
lowing. The couple faces a
tragedy — a child affected
by familial dysautonomia.
Classified as a Jewish dis-
ease, since it affects one out
of every 10,000-20,000 Ash-
kenazic Jews, familial dy-
sautonomia is a disturbed
function of the autonomic
nervous system, that mech-
anism of the body that pro-
tects and regulates vital au-
tomatic body processes such
as heat and lung action,
digestion, blood pressure
and body temperature.
The autonomic nervous
system in a normal person
controls responses to pain,
heat, cold and reflexes such
as perspiration, tears and
salivation. However, in a dy-
sautonomic child, these res-
ponses and reflexes are ab-
sent.
Identified in 1949 by
Drs. Conrad M. Riley and
R. L. Day, familial dysau-
tonomia is often called
Riley-Day syndrome.
Compared to Tay-Sachs,
another so-called Jewish
disease since it only at-
tacks descendants of Ash-
kenazim, familial dysau-
tonomia cannot be
detected by prenatal mass
screening programs and
amniocentesis.
Physical symptoms de-
tected in a dysautonomic
child include a relative in-
difference to pain; inability
to distinguish between hot
and cold; the lack of tears
(which allows undetected
foreign objects to irritatethe
eye and cause corneal ul-
cers); absence of taste
buds; unstable blood pres-
sure; unstable body temper-
ature which may fluctuate
between 92-108 degrees;
uncontrollable vomiting at-
tacks; speech and motor dif-
ficulties; drooling; stunted
height; impaired swallow-
ing; skeletal defects and re-
peated attacks of pneu-
monia.
If the child survives in-
fancy, a period character-
ized by a high mortality rate
due to acute and chronic
pulmonary infections, the
following defects may be de-
tected: an awkward gait
when the child learns to
walk, spinal curvature, poor
performance in school, con-
vulsions and facial asymme-
- try. Parents of dysauton-
omic children may find
their maturation process is
delayed.
Deramtologic (skin) prob-
lems are also associated
with dysautonomic persons.
Some may develop sebor-
rheic dermatitis, a skin con-
dition attiributed to profuse
sweating and resembles
cradle-cap. Appearing on
the scalp and eyebrows, this
condition has been found to
continue until adulthood.
Breath-holding attacks
are common, and dysau-
tonomic persons are ad-
vised to avoid swimming
under water. The victim's
speech is often found to be
flat, nasal and monoto-
nous.
Dr. Victor McKusick, a
geneticist at Johns Hopkins
University, theorized that
this genetic accident — that
only Ashkenazic Jews are
affected — happened
hundreds of years ago.
According to Dr. McKu-
sick, in 1000 C.E. a Rhine-
land (Germanic) Jew was
exposed to a cosmic ray or
Tragic 'Jewish' Disease
ray from radioactive rock
such as granite. By a billion-
to-one chance, the ray
damaged one of the genes
that govern bio-chemistry
development in the em-
bryo's nervous system, leav-
ing a defect that impairs the
autonomic and sensory
functions.
Dysautonomia is trans-
mitted as a recessive gene.
Referring to basic biology,
all genes are found in pairs,
one from the mother, the
other from the father. To-
gether, these pairs of genes
are passed on to the child
and determine particular
traits such as hair or eye
(Continued on Page 15)
If you were born Jewish -
you could be a carrier of
dysautonomia.
What is dysautonomia?
Familial dysautonomia (dis-auto-NO-mia) is a rare,
often fatal, heriditary disease afflicting Jewish children
of Ashkenazi descent.
Basically, familial dysautonomia is a malfunction of
the autonomic nervous system — the system which con-
trols involuntary body processes such as heart rate,
digestive system and reflexes — and, to a lesser degree,
the central nervous system which controls voluntary ac-
tions. The disease afflicts boys and girls in equal numbers
and poses severe physical, emotional and social prob-
lems for the afflicted child in his relationship with other
children.
What are the symptoms of
dysautonomia?
Pamela, 4, may go blind because she does not have
enough moisture in her eyes to protect them.
Two year old Michael often passes out because his
lungs fill up with mucous; his mother must revive him by
clearing his lungs.
Other victims suffer from such diverse symptoms as
uncontrollable vomiting attacks, unstable blood pressure
and wildly fluctuating temperatures, as well as stunted
height, spinal curvature and frequent bouts with pneu-
monia.
sor numerous fund raising activities ; to allocate money
obtained from the various fund raising projects into re-
search to find means of controlling and eliminating the
disease; and to provide a continual flow of information
to members and all those persons — lay or medical —
who request information about the disease.
How you can help.
Research projects are currently being supported in
many fine medical schools and hospitals throughout the
United States, Canada and in Israel. Many worthwhile
requests for additional research grants can not be sup-
ported today, because there is not enough money to do
all that needs to be done. The research problems are
exceedingly complex, but each new bit of knowledge, as
it unfolds from the laboratories, is laying a foundation
towards more understanding of the basic cause of the
disease.
Your help today can give these
children hope for tomorrow
I
To: Dysautonomia Foundation, Inc., Michigan Chapter
26555 Evergreen, Suite 700
Southfield, Michigan 48076
Who are the carriers?
Statistics suggest that one in every 100 American
Jews may carry the defective gene that transmits the dis-
ease. However, a screening test that will enable the iden-
tification of carriers of the genetic trait has not yet been
developed. Detection of couples "at risk," together with
the development of a test for pre-natal diagnosis, could
eliminate this terrible disease.
Enclosed is my tax deductible contribution in the amount
of:
$36
$ 1 8
other
Please send me more information
What does the Dysautonomia
Foundation do?
Founded in 1951 by parents of afflicted children,
the Dysautonomia Foundation, Inc., is a non-profit, vol-
untary organization with headquarters in New York and
chapters throughout the United States and Canada.
The major functions of the Foundation are to spon-
$ 1 0
$ 5
Name
Address
L
t) GIVE TODAY FOR THEIR TOMORROW
Dysautonomia Foundation, Inc.
MICHIGAN CHAPTER
26555 Evergreen Rd. 700 Travelers Tower Southfield, Michigan 48076 Phone: (313) 444-4848