Special Report

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Defying Dystonia from page A13

ous physicians over the course of years to
achieve a correct diagnosis of dystonia.
And Max's symptoms were not "typi-
cal" of the disorder, which can interfere
with walking, sitting, sleeping, eating and
talking. Dr. LeWitt found it "curious that
in most children with dystonia, symptoms
are bilateral [on both sides], but for Max,
they are on one side'

Treatment Options
"I was on medication for 20 years until
my neurologist suggested I stop taking it
because of possible side effects;' Chuck
said. "I was pretty much the same without
the medication as I had been with it." He
no longer takes medication or receives any
therapy or treatment.
Nearly 35 years later, Max has more
options. There is still no cure for dysto-
nia, but Dr. LeWitt began treating Max
while also referring him to a physician in
Houston.
Dr. LeWitt prescribed oral medication
to Max, and both he and the physician in
Houston administered injections of Botox
(botulinum toxin type A) in the muscles
of his abdomen, quadriceps, ankle and
foot. The medication causes weakness in
the targeted muscle to relax spasms, but
Max's mom said, other than some benefit
to Max's ankle, the injections didn't help.
Max also tried alternative treatments
including the Feldenkrais Method, used
to improve movement, flexibility and
coordination. Other treatments for dys-
tonia include physical and occupational
therapy as well as speech or voice therapy.
Complementary therapies involve relax-
ation techniques, body-mind techniques
such as yoga, meditation, controlled
physical exercise including Pilates and soft
martial arts, biofeedback and acupuncture
for pain relief.
Max took pain medications at times
for spasms in his leg, foot and ankle
and especially when abdominal spasms
became extensive.
Throughout it all, Sandy said, "We tried
not to stop doing all the fun things we
would regularly do, as difficult as some of
it was. Max kept going." But when he broke
his dystonic leg skiing, Sandy said, "He
was tasted and the spasms of pain were
out of control. After talking to every doc-
tor involved, no other choice was made
but to leave the cast on and put Max on
a regime of Vicodin and Valium until the
cast could come off. Between the over-fir-
ing of muscles in his quads and abs, and
the twisting of his leg, the forward flexion
[leaning forward] crept up on us:'

More Drastic Treatment
Max began occasionally using a wheel-
chair, out of school, in the sixth and sev-

A14

November 20 2008

Twins Max and Sophia

Herczeq of Farmington

Hills clown around in

Max's room.

enth grades, but by eighth grade, he used
it all the time.
"It felt kind of awkward to use it in
school: Max said. "But there was another
person there who was also in a wheel-
chair." Astoundingly, of the only 250,000
individuals in North America affected
with all types of the disorder, the boy
— who is not Jewish — also has dystonia.
Max's pals rallied around him. "Max has
an incredible group of longtime friends;'
Sandy said. "His friends and their par-
ents were awesome when it came to shlep-
ping around with Max and his wheelchair.
The chair even managed to get thrown
into a friend's pool. I could have cared
less. We just left it out to dry"
With Max's symptoms continuing to
progress, the doctor in Houston told the
Herczegs the only treatment option left to
Max was Deep Brain Stimulation Therapy
(DBS). This "therapy" is actually brain
surgery used to block signals in the brain
causing symptoms of dystonia that occur
when muscles receive faulty information
— most commonly in the basal ganglia
area involved in the coordination and
control of muscle movement — causing
them to contract involuntarily. The goal
of surgery is to decrease muscle spasms,
increase mobility and function and
decrease pain.
Some patients with dystonia receive sur-
gery on the specific nerves and muscles
affected; others receive brain surgery that
destroys abnormal brain tissue. The DBS
Max received is adjustable and revers-
ible, manipulating brain areas with non-

destructive electrical pulses.

What Else Can We Try?
Before proceeding with DBS, Dr. LeWitt
suggested that Max try the use of a device
called an intrathecal baclofen pump "as
an alternative way of treating Max's symp-
toms in hopes of not having to do the sur-
gery," Dr. LeWitt said.
Neurosurgeon Dr. Fred Junn at William
Beaumont Hospital in Royal Oak surgical-
ly implanted the pump and a catheter in
Max's spine to deliver medication directly
into the spinal canal. The pump worked to
an extent, stopping some spasms. "But the
catheter in my back kept falling out [while
still remaining under the skin]," Max said.
"It had to be replaced three times:'
That's when Sandy began searching for
a doctor to perform DBS on Max.
"I actually ended up finding him on the
Internet," she said of Dr. Ron Alterman,
director of functional and restorative
neurosurgery at the Mount Sinai Medical
Center in New York City, well-known for
his work with DBS for Parkinson's disease,
torsion dystonia and tremor. "He has a
whole neurosurgical team designated
to DBS in children. We learned his team
has performed DBS for dystonia on more
children than any other doctor, other
than a French neurosurgeon (Dr. Philippe
Coubes)."
In May 2006, Max and Sophia celebrat-
ed their b'nai mitzvah at Congregation
Shaarey Zedek in Southfield. Max used
crutches.
"That December, my whole family went

to New York to meet Dr. Alterman and
for a mini-vacation;' Max said. "Then we
went back in February for me to have the
surgery"

Brain Surgery
"I was reluctant about Max having brain
surgery, with all the risks involver Chuck
said. "But Max was not satisfied with his
quality of life. He's fearless and impressed
me with his courage'
Max said, "I was OK with it because they
said I would be able to walk:'
Dr. Alterman explained, "There have
been very few successful treatments for
dystonia. [Some] medications can be
effective but can also have significant side
effects such as drowsiness. Botox can be
effective for focal dystonias, but is imprac-
tical for generalized dystonia such as Max
has.
"So, with little doubt I can say that DBS
is the most effective therapy for child-
hood onset generalized dystonia currently
available and that children with the DYT1
mutation consistently respond;' he said.
"Moreover, our most recent publications
in Neurology (2007) and Brain (2008) sug-
gest that the earlier we intervene, the bet-
ter the results:"
Max's surgery was performed in two
parts. "First, I had the brain surgery and
two weeks later I went back as an outpa-
tient and had a battery put into my chest;'
Max said. "A month later, the battery was
turned on."
According to Minneapolis-based
Medronic, the company that produces the

