Losing A Child
W
The Reichs enjoy a family visit to Detroit — Alex, Keith, Rachel and Sandi.
the age of 5. But with early
diagnosis and advancements
in treatment, many dysauto-
nomic children are living well
into adulthood and enjoying
relatively normal lives.
Statistically, dysautonomia
is as common as a better
known "Jewish" genetic
disease — Tay-Sachs. One out
of every 30 Ashkenazi Jews
is a potential carrier of the
autosomal recessive condi-
tion. Both parents must have
the defective gene in order to
have an afflicted child.
Unlike Tay-Sachs though,
there is no way, as yet, to
identify the genetic defect in
a dysautonomia carrier. The
"marker" is unknown.
However, medical science is
on a needle-in-a-haystack
genetic search for the faulty
culprit. A major research pro-
ject is under way at Harvard
University.
And a recent medical
breakthrough looks promis-
ing. The identification and ex-
perimental repair of the gene
carrying cystic fibrosis offers
some hope, says Dr. Axelrod.
"Once you get down to the
gene level, the possibilities
are enormous," says Dr. Alex-
rod. "We'd have the oppor-
tunity to do prenatal diag-
nosis, wide-spread screening
programs for carriers and
give very good genetic
counseling. And if you truly
do isolate the gene, you could
give replacement or genetic
therapy and help all of those
children who are affected."
In the meantime, the risk of
conceiving a dysautonomic
child remains a crapshoot.
And that's what scares Judy
Fertel-Rich and Ken Rich of
Farmington Hills. For Judy
and Ken, each role of the
chromosomal dice could come
up snake eyes.
Their likelihood is very
high, about 12 percent, says
Dr. Axelrod, because of an
unusual set of circumstances.
Judy, 27, and Sandi, 32, are
sisters. Ken, 29, and Keith, 33
are brothers. No known
evidence of the disease ex-
isted in the families before
Rachel was born. But two
sisters married to two
brothers means a commonly-
shared gene pool that has
already produced one
dysautonomic child. No one
wants to produce another.
"We're not planning any
children right now and I'm
not big on taking risks," says
Judy, a law student. "I've
seen how this affects our
whole family. We adore
Rachel and we think positive-
ly about the situation. But it's
been so devastating for my
parents and brothers. For that
reason, too, I would be ner-
vous about having a child. It
might put them through it
again."
"I let Judy know that we're
supportive of any decision
they make. I think she's very
wary of having a child
without knowing the conse-
quences. Nobody understands
that better than we do," adds
Sandi.
Current literature indicates
a breakthrough may occur
within the next three years.
But what if the Richs want
children before the telltale
gene is mapped?
"There might come a time
when this issue becomes
paramount. Then we'll have
to hit it head on," adds Ken,
an attorney.
Sandi and Keith are also ex-
tremely hesistant to have
another biological child
without a known genetic
marker. They have a perfect-
ly normal, healthy 2 1/2-year-
old son, Alex, who was con-
ceived and born before
Rachel's diagnosis was made.
In effect, says Sandi, they
took a big risk without know-
ing it.
Rachel's diagnosis came a
little over a year ago from a
pediatrician in Chicago, even
though the Reichs had paid
numerous visits to
developmental and genetic
experts.
"We saw so many
specialists up and down the
East Coast. I knew that if we
could get her to the right per-
son, the doctor would know
what it was," says Sandi.
One specialist even con-
cluded the little girl had a
mild case of cerebral palsy.
"I don't harbor bad feelings,
but they blew it big time,"
says Keith, a rheumatologist.
"We would go into these ex-
ams and I would hear Sandi
ask the same questions. 'Why
doesn't she cry tears? Why
does she flush? Why does she
pass out?' Three of the classic
symptoms of dysautonomia.
And they knew we were
Jewish. They overlooked the
obvious."
The diagnosis stunned the
Reichs. They were told most
children afflicted with
dysautonomia don't live past
age 5.
"I spent the next three
weeks in mourning," says
Sandi.
The Reichs flew to New
York with Rachel to see Dr.
Axelrod, who offered them a
hen you enter Oak-
land County Circuit
Judge Hilda Gage's
private chambers at the cour-
thouse in Pontiac, photos and
memorabilia line the window
sill that runs the length of
her office — a pictorial record
of important people and
events in her life. Among
those framed smiles is a pic-
ture of a sweet-faced little boy.
Robbie Gage died from
dysautonomia-related com-
plications 16 years ago this
month. He was 6 years old.
While time has softened the
pain of loss, Judge Gage often
thinks about her youngest
child.
"You never really get over
the loss of a child," she says.
Judge Gage has two
daughters, too, one of whom is
mildly dysautonomic and pro-
bably would've gone un-
diagnosed except for Robbie.
The other is a lawyer in
Chicago who specializes in
medical and genetic ethics.
Robbie died before he could
benefit from some of the ad-
vancements medicine has
made in monitoring and
treating the symptoms of
dysautonomia. For his
pediatrician, it was a heart-
rending case.
"He was a charming little
boy, . and so desperately ill,"
says Dr. Ralph Cash. "His
parents would've turned the
world upside down for him if
There were
indications right
from the start that
Robbie wasn't well.
Judge Gage
couldn't feed her
newborn son with
a bottle. His back
arched in pain
when he would
swallow.
they could, and when he had
his sudden cardiac arrest in
the middle of the night, they
had to stand by helplessly.
But there really was nothing
that could've been done."
There were indications
right from the start that Rob-
bie wasn't well. Judge Gage
couldn't feed her newborn son
with a bottle. His back arched
in pain when he would
swallow.
"I had to feed him teaspoon
Judge Hilda Gage lost a son to
dysautonomia.
by teaspoon," recalls Judge
Gage.
Her son's condition wasn't
diagnosed until he was 18
months old. Robbie was
undergoing allergy tests for
what doctors thought was
asthma. His response to those
tests was unusual and gave
rise to the diagnosis.
Judge Gage says she had
never heard of dysautonomia
before that, but became all-
too-intimately familiar with
the disease, its symptoms and
the general lack of knowledge
on the part of the medical
community.
"Robbie had been hospital-
ized 33 times in his six years.
Each time we would bring
him home until the next
crisis. He would get a cer-
tain look and you would know
it was coming. He would start
vomiting and couldn't stop.
He'd get dehydrated. Nobody
had warned me that his
system could just turn off."
There were times when
Judge Gage would rush her
son to the hospital and have
to explain to the medical staff
about Robbie's disease and his
particular needs.
"If I was lucky, the nurses
would listen to me," says
Judge Gage. "They don't like
to listen to the mother."
Robbie needed constant at-
tention — round-the-clock eye
drops to prevent damage from
a lack of tears, lung suction-
ing and drainage, intravenous
feedings.
But during those times that
her son was well, "he was
fabulous. An unbelievably
sweet child with lots of
friends. He would pretend to
be a football player. He'd run
around the house tackling
imaginary foes. I guess he
wanted to be a jock. Maybe he
is in the world he's in now." 0
THE DETROIT JEWISH NEWS 49