|
 Fragile
X: The Story of Luke
Shutdown of one gene changes a little boy's trip through
life.
by Amanda Gardner, HealthDay News, November 19, 2003
For more articles like this
visit
https://www.bridges4kids.org.
When Luke Solotaroff was a month old, he still did not have the
muscle strength to suck his mother's breast or a bottle.
His parents had to use a tiny tube, one-tenth of an inch in
diameter, to coax sustenance into his baby mouth.
By the time Luke was 2 1/2 years old, the situation was no
better. His legs were so flexible they could be tied behind his
head. He was also developing distinctive features: large,
protruding ears and an oval face. And while he laughed and
screeched, he didn't form any words.
Luke's parents, Paul Solotaroff and Elaine Stillerman, took
their son to several well-known neurologists, who handed down a
smorgasbord of incorrect diagnoses, everything from autism to
cerebral palsy to something called pervasive development
disorder.
Finally, as Luke approached the age of 3, the Solotaroffs got
their answer: He had Fragile X syndrome, a hereditary condition
that causes mental impairment. The Solotaroffs had never heard
of the syndrome, but were now told that it had no cure and was
the second leading genetic cause, after Down syndrome, of mental
retardation. The Fragile X mutation may affect one in 2,000
males and one in 4,000 females.
"With my kid, there is such obvious intelligence lurking behind
those eyes," says Solotaroff, a Brooklyn, N.Y., writer who has
just published an article about his son for the November issue
of Men's Journal. "It seemed that all we needed to do was find
the person holding the right key, so we kept looking and kept
looking and never for a minute thought that that person wasn't
out there or that Luke was a door needing three or four keys. It
was just a question of knocking on the right door."
In scientific terms, Fragile X can be deceptively simple. "It's
one gene. It stops functioning so the body is missing a single
protein [the FMR protein]," explains Dr. Michael Tranfaglia,
medical director of the FRAXA Research Foundation in
Newburyport, Mass. and father of Andy, a 14-year-old boy with
Fragile X. "The net result is that the synapses overfunction in
a specific way."
In human terms, of course, the story is nowhere near that
simple, which is partly what Solotaroff wanted to convey in his
recent article.
"I wrote a story about what life is really like in the trenches
of a cognitive disorder, how the heart is constantly being
cudgeled and, at the same time, somehow deepened by the
experience of fathering a kid who so desperately needs you," he
says.
On the one hand, Solotaroff describes his son, who is now 5, as
"ebullient. He is the happiest person I know."
But he also describes him as a "need machine." Luke operates on
little sleep and is in constant, albeit happy, motion: bouncing,
jumping, flapping his arms.
"He'll wake up at 3:45 ready to party, wanting to have breakfast
and watch his first video," Solotaroff adds.
A doctor once likened Luke's brain wiring to "a jack with 10
phones plugged in." Fragile X kids, Solotaroff explains "are
unable to filter the important from the completely
insignificant." The result is this "overlong stream of
information that you are trying to make sense out of while the
world is blowing by you," he adds.
But because Fragile X kids are so sensitive and because there
are so many nerve endings in the mouth, even the act of brushing
Luke's teeth, his father says, "is an act of courage comparable
to what Siegfried and Roy did every night."
Solotaroff has taken another apartment where he can work and
also sleep through the night twice a week. He and his wife,
Elaine, take turns doing night duty for their son. The constant
focus on Luke has taken its toll on their relationship.
"What we've really lost with each other is the capacity and
opportunity to have fun," Solotaroff says. "One or another of us
says 'I feel like a wildly overpaid hospital attendant.'"
Drugs can control various symptoms of Fragile X (for example,
the seizures or the hyperactivity) but "it is really hit or
miss," Tranfaglia says. None of the drugs are specific to the
disease so they can actually exacerbate some symptoms while
improving others.
The frustrating but ultimately hopeful thing about Fragile X is
that it involves a single gene. This makes the disease
potentially curable. Not only is it a single gene, but it's a
gene that causes a particular synaptic process to be excessive.
It's easier to block an excessive function with a drug than to
make up for a deficiency, Tranfaglia explains.
A compound called MPEP that blocks the MGluR5 receptor, which
controls the errant process, is being tested in a mouse model
and Tranfaglia's organization is trying to find a pharmaceutical
company to take it to clinical trials.
In the meantime, Luke has started on a combination of drugs that
allows him and, by extension, his parents, to finally sleep
through the night. Solotaroff has his fingers crossed but isn't
counting on anything.
Except his relationship with his son.
"I never thought I was capable of that kind of intensive
hands-on fathering. I thought I would be a good batting
instructor for my kid. I thought I'd be a serviceable jump-shot
coach. I thought that I would teach him my sardonic way of
seeing the world," Solotaroff says. "It never occurred to me
that I could connect with someone who couldn't talk."
"What I've learned is that I am capable of responding to this
creature in ways that I didn't know I was capable of responding
to anyone or anything including my own work," he adds. "I've
never loved anyone or anything as much."
"It's primal, and I know this is true of other Fragile X
parents. There is something about their vulnerability, about
their defenselessness that brings out the mother or father bear
in you," he says.
More information
To learn more about Fragile X, visit the
FRAXA Research Foundation or
the National Fragile
X Foundation.
SOURCES: Paul Solotaroff, writer, Brooklyn, N.Y.; Michael
Tranfaglia, M.D., medical director, FRAXA Research Foundation,
Newburyport, Mass.; November 2003 Men's Journal
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