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News from Indystar.com Mar. 25, 2007
Doctor treats patients who share
his disease
About 1 in 5,000 people has Ehlers-Danlos syndrome, a connective
tissue disorder
SOUTH BEND, Ind. -- People struggling with rare diseases will fly
thousands of miles to find doctors who really know what they're
talking about.
More and more, those with the curious connective tissue disorder
Ehlers-Danlos syndrome have come to the South Bend office of
Dr. Mark Lavallee.
Lavallee is recognized as a national expert on the syndrome, whose
symptoms range from loose joints and fragile skin to risk of organ
rupture and fatal aneurysm.
But he also has something more to offer: personal experience with
the disease. When he was a youngster, an astute pediatrician figured
out that Ehlers-Danlos was the underlying cause of skin tears and
bruising that required frequent trips to the emergency room and even
cast his mother under suspicion of child abuse.
Lavallee, 39, went to South Bend eight years ago to found the
Memorial Sports Medicine Institute, a fellowship program for doctors
seeking to add that specialty to their credentials.
He has run the fellowship while building a primary care practice and
serving as team doctor for national and international weightlifting
teams.
He's also established South Bend as a national referral center for
Ehlers-Danlos patients.
But he's quick to downplay the label of "national expert" on EDS
with a quip about its rarity.
"If you have 10 patients with EDS, you're one of the world's leading
experts," he quips.
It's estimated that only about one in 5,000 people has the condition,
which is inherited and stems from defects in the genes responsible
for the body's most plentiful protein, collagen.
The glitches on the microscopic scale translate into some bizarre
symptoms for the people with Ehlers-Danlos. Depending on which kind
of collagen is affected, people will have different forms of the
disease.
Those with the so-called classical form, like Lavallee, have skin
that's very frail and stretchy and that can be pulled away from
their bodies like the nylon in stockings. Others have joints so
flexible they can bend their fingers back so far that they make a
90-degree angle with the back of their hands.
Because it's so rare, few primary care physicians are willing to
venture a definitive diagnosis of Ehlers-Danlos, treat its symptoms
or advise people on how to live with it.
So once EDS is suspected, doctors from across the country, Canada
and Mexico send patients to Lavallee, who's listed as a referral
source by the National Ehlers-Danlos Foundation.
There is no way to repair defective collagen in people with EDS and
make them normal.
So primary care involves helping people improve their general health,
manage their pain and stabilize their joints with exercise, Lavallee
said.
"There's no magic cure," he said. "I do a lot of goal-setting with
my patients."
Ultimately, Lavallee said, he'd like to help establish written
national standards of care for EDS.
By David Rumbach of the South Bend Tribune.
http://www.indystar.com/apps/pbcs.dll/article?AID=/20070325/LOCAL/703250469
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