health & wellness

Fragile X Syndrome

Treatment helps those with incurable genetic disorder that has links to autism.

Aldan and Camryn Silverton stand in front of the ark at Temple Beth El in Flint,
where they will celebrate their b'nai mitzvah in June.

N

Ruthan Brodsky
Special to the Jewish News

of many people know about
Fragile X (FXS) syndrome, and
even fewer knew about the condi-
tion 15-20 years ago. There were no clinics
in Michigan for diagnosis and treatment.
That was the scene when Aidan, the
21/2-year-old son of Jennifer and Dr.
Kimball Silverton of Grand Blanc, was
diagnosed with FXS, a genetic disorder
that is the most common form of inherited
intellectual and developmental disability. It
can affect both males and females.
Much has happened since then. Today,
Aidan, 15, is preparing for his bar mitzvah,
which he will share as his sister, Camryn,
becomes a bat mitzvah.
"I can't imagine celebrating my bat
mitzvah without him because we've always
done so many things together," Camryn
says. "Some of the prayers we recite togeth-
er, and Aidan recites one directly from the
Torah. I'll be by his side to help if he needs
it:'
Aidan has spent hours studying for his
bar mitzvah and has memorized almost
everything.
"I'm excited about seeing my family,
my cousins and aunts, and my friends all
together at the bar mitzvah," he says.
When Aidan was a toddler, Jennifer
noticed he was missing developmental
milestones: sitting, standing, walking and
talking all were delayed. Doctors respond-
ed that these delays were common in boys
and not to worry.

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May 30 • 2013

JN

The Silvertons' concerns persisted and
they pursued speech therapy for their son.
The speech therapist shared their concerns
and recommended they take Aidan to a
pediatric neurologist.

Diagnosis Of Fragile X

FXS is diagnosed through DNA blood
tests to determine if a mutated gene exists.
"When we first heard the diagnosis, we
were devastated," Jennifer Silverton says.
"We had never heard the term Fragile X,
and when we found out its characteristics,
we thought all our dreams for our son
were shattered. We were in shock and at
the lowest point of our life:'
There is no cure for FXS. Until very
recently, there was no health facility
in Michigan where FXS patients could
be treated. Parents, like the Silvertons,
traveled across the country, looking for
answers and seeking help for managing
their child's condition.
"Today, Aidan is at first-grade level aca-
demically and experiences some sensory
issues," says Jennifer, who left her position
working in TV news when Aidan was diag-
nosed. "However, by focusing on his abili-
ties and not concentrating on his disabili-
ties, we're planning Aidan's bar mitzvah
this June at Temple Beth El in Flint:'
Studies show that the prevalence of FXS
in males is approximately 1 in 3,600 to
4,000 and in females approximately 1 in
4,000 to 6,000. General population studies
found that approximately 1/260 females
and 1/800 males are carriers of the FMR1
gene worldwide. There are variations in

The Cohens: Joshua, Arline, Jeff and Allison.

some populations. For example, a large
Israeli study found that 1/130 women were
FMR1 carriers. There was no explanation
for the difference.
It took the Silvertons more than a year
to digest what FXS was, how it impacted
their son and how it would affect their
lives. They located the National Fragile
X Syndrome Foundation (NFXF) and
were connected to Jeffrey Cohen of West
Bloomfield, former president of NFXF and
now its director of governmental affairs.
"When Jenn called us, we were both
living in West Bloomfield and we both
belonged to Temple Israel," Cohen says.
"Our stories were similar. When our frater-
nal twins were toddlers, my wife kept tell-
ing me something was wrong with our son.
The doctors said he would catch up and I
listened to the doctors — not my wife. I
hear identical stories from others. It puts a
huge stress on a marriage.
"Our son was diagnosed with FXS in
1994, and it was the lowest day of our
lives," Cohen says. "The literature back
then recommended that the FXS popula-
tion be institutionalized, even though the
disorder covers a wide spectrum of dis-
abilities. We discovered the NFXF, founded
in 1990, and were in time to attend their
international convention. That's where we
found hope:'

Getting Treatment

Treatments are available to help children
and adults with FXS develop important
skills. Treatment consists of physical and
psychological therapy. Behavior problems

can be managed with the help of medica-
tions, such as antidepressants, stimulants,
antipsychotics or antiseizure drugs. Early
intervention has proven best to teach the
most necessary skills and to improve the
child's developmental rate.
"I left my job in a legal firm, established
my law practice at home and flew to
Albuquerque to meet Dr. Randi Hagerman,
who started the FXS Foundation," Cohen
says. "She and the foundation were so
helpful that my wife, Arline, and I joined
the board as our way to give back. Jenn
Silverton is now vice president.
"Our children are 24 years old now and
our son does well," Cohen says. "He has
good language and social skills, some self-
care skills and a great personality. He will
always require some degree of supervision
while living independently and working:'
To continue their quest for a cure, the
Cohens and family established the Rosen
Weingarden Fund that has awarded
$100,000 in summer research fellowships
to attract new researchers to the Fragile X
field.
Lori Edelson, a local
marriage and family
therapist, became inter-
ested in FXS when her
nephew in Vermont was
diagnosed with the con-
dition.
"For 30 years, I've
Lori Edelson
been in the mental
health profession and

Fragile X on page 44