HEALTH & FITNESS
wellness/on the cover
THE WILL TO OVERCOME
from page A27
friend who has CP [cerebral palsy]."
Subia describes his symptoms as
"more of an ache than a pain. My
muscles stiffen up, especially overnight.
At night, I'll get cramps in my legs or
arms," which afflicts Horenstein as well.
Cruelly, "there's nothing to be done"
to stop the disease's progression, Subia
says.
Neither is on medication.
Both men did take part in an unsuc-
cessful 2003-2006 clinical trial of the
drug Zavesca, which was adminis-
tered at New York University School
of Medicine and Cleveland University
Hospital.
"I got Joe involved in the study," says
Subia, who had consulted one of its
co-directors, Dr. Barbara Shapiro, M.D.,
PhD., associate professor of neurology
at Case Western Reserve School of
Medicine in Cleveland.
Trying To Treat
Horenstein was encouraged when some
of his symptoms appeared to diminish.
However, he was taken off the drug when
he developed tremors in his hands.
"Tremors can be part of the disease
itself, but the Zavesca also causes trem-
ors in about a third of the patients who
take it," says Shapiro.
"We did not find any statistically sig-
nificant benefit of Zavesca," she says,
"although some of the investigators had
Mike Subia: "My legs began to hurt and that's how I found out."
"Much research is directed at optimizing drug
delivery into the nervous system as well as
insights into the molecular processes that
underlie neurodegeneration in Tay-Sachs."
Dr. John Fink
the impression there was improvement in
some of the patients' speech."
Shapiro also studies the best anti-
depressant medications to use for the
one-third to half of LOTS patients who
have psychiatric problems. Mental ill-
nesses, such as psychosis and bi-polar
disease, "are part of the disease itself, not
just a reaction to it," she says.
"Some medications patients should
avoid, while others are relatively safe and
beneficial," Shapiro says.
Research to combat LOTS is ongoing,
according to Dr. John Fink, M.D., pro-
fessor of neurology at the University of
is specially fitted so that he can propel
"walk" the three blocks to Friday and
his wheelchair to a position right behind
the steering wheel. Both men use hand
controls to drive.
Saturday services held by the small
Orthodox minyan to which he and his
family belong.
Although Horenstein, who lives alone,
can work on cases out of his house,
he must travel to the Oakland County
As the disease progresses, "We don't
"Much research is directed at optimiz-
ing drug delivery into the nervous system
as well as insights into the molecular pro-
cesses that underlie neurodegeneration in
Courthouse complex to defend the
indigent criminals he works with. He
has two adopted children and is a son
do as many things together," says
his wife, Alice Subia, who is from the
Netherlands. "Air travel is harder."
Tay-Sachs," says Fink.
"Although it will take some time, these
approaches will ultimately lead to real
of the late Hy Horenstein, who ran Hy
Horenstein's Delicatessen for more than
50 years.
"It's made me a little more respon-
sible," says son Sam, 14, who attends
Eton Academy in Birmingham while
treatments for this condition," he predicts.
That research could possibly be
stepped up as President Barack Obama
Subia has an office close to home
and regularly drives to see customers.
He is also able to use his wheelchair to
his sister Julianne, 12, is at Hillel
Day School of Metropolitan Detroit in
Farmington Hills. "I kind of relate to a
promises to lift the limits on stem cell
research imposed by the Bush adminis-
tration.
A28
Febr uary 26.2009
The Adjustment
Michigan, who sees patients with late-
onset Tay-Sachs disease once or twice
a year.
❑
What Is Late-Onset
Tay-Sachs Disease?
Late-onset Tay-Sachs (LOTS) dis-
ease is a rare form of Tay-Sachs
disease, a lysosomal storage
disorder caused by the absence
of the enzyme Hexosaminidase A
(Hex-A). LOTS was first recog-
nized in the 1970s during a rou-
tine Tay-Sachs carrier screening.
Investigators have discovered
very low levels of Hex-A in older
children and adults whose symp-
toms include lack of coordina-
tion, slurred speech and muscle
weakness. Approximately
one-third of affected individuals
suffer from depression and other
mental illnesses.
Symptoms typically present in
adolescence, but many individu-
als are misdiagnosed with other
muscular or neurological diseases.
Accurate diagnosis of LOTS is
made through enzyme assay and
DNA analysis.
As a recently recognized rare
form along the Tay-Sachs con-
tinuum, the course of LOTS is not
completely known. Life expec-
tancy is probably not reduced
although it is a progressive
disease.
The disease is transmitted
through heredity. Both parents
have to carry the Tay-Sachs gene
for there to be a possibility of
transmission to their child.
The genetic mutations that
cause both forms of Tay-Sachs
are most common in people of
Ashkenazi Jewish heritage. But
the mutations also appear in cer-
tain French-Canadian communi-
ties of Quebec, the Old Order
Amish community in Pennsylva-
nia and the Cajun population of
Louisiana.
Since there is no cure, it's
important for at-risk couples to
undergo genetic testing to de-
termine if they are carriers.
❑
Information compiled from Web
sites of the Mazor Guide to Jew-
ish Genetic Diseases, National
Tay-Sachs & Allied Diseases As-
sociation, and the Genetics Home
Reference Guide of the National
Institutes of Health.