For some, it's a comfort to find a name, if not a cure

By NANCY YOUNG
The Virginian-Pilot

Sandee Lefcoe had to wait 20 years before she learned why the weird things kept happening to her.

Like the flu shot she could feel trickling down inside the skin of her arm or when the anesthetic used near her eye numbed her chin instead. Then there was the pain in her joints and the feeling that things were shifting within them.

"Very strange things were happening to my body that the doctors could not understand or explain," said Lefcoe, who lives in Portsmouth. "It's not something you would see, but you sure do feel it."

Lefcoe has Ehlers-Danlos syndrome, a genetic disorder of the connective tissues, often marked by loose joints and unusually stretchy, fragile skin.

"I think of it in the context of glue," said Dr. Virginia Proud, director of the division of medical genetics and metabolism at Children's Hospital of The King's Daughters.

Ehlers-Danlos can cause a breakdown in collagen, which holds joints and tissues together.

There are several types of the disorder, including an unusual - but potentially fatal - kind in which weaknesses in blood vessel walls can cause them to burst.

With the syndrome, the joints can dislocate easily and become damaged. The skin bruises and tears and when you need to have stitches it's like "trying to sew up oatmeal," said Diana Harris, president of the Richmond-Central Virginia chapter of the Ehlers-Danlos National Foundation.

The foundation has organized a daylong symposium Saturday in Richmond for doctors - who can receive continuing education credits - and people with Ehlers-Danlos.

"It's the biggest way to foster awareness in the medical community," said Harris, who added that the disorder affects about 1 in 5,000 people, many of whom are never diagnosed. "They've got people in their practice with it, I'm sure they do."

Because collagen is ubiquitous in the body, problems with it can affect a wide variety of systems and cause a chain reaction of difficulties.

Still, some people with the condition may never have a problem - or only discover one when a lifestyle change, like taking up a new sport, brings it to light, Proud said.

Just being loose-jointed, for example, even if it is caused by Ehlers-Danlos, need not be a cause for concern, Proud said.

"It really depends on what kinds of problems those loose joints are causing," Proud said.

But, if you're seeking help for joint pain and you're loose-jointed, it would be a good idea to tell your doctor to see if they're related, Proud said.

Knowing a patient has Ehlers-Danlos can alter the way medical care is given. For example, according to the Mayo Clinic, a surgeon might opt to use adhesive tape or medical glue rather than stitches, which would be more likely to tear out of weak skin. People can also learn ways to take more care with their joints to minimize damage.

"Every second of a 24-hour day I have to monitor every movement I make," said Lefcoe, 63.

"It's very easy for something like a ligament or a tendon to shift."

Lefcoe said that Proud diagnosed her with Ehlers-Danlos after 20 years of searching for answers. While there's no cure, she said, she's glad just to know and thinks others would be, too.

"Just, first of all, putting an accurate name to what is happening is just this weight that has been raised, that I'm not some alien," she said.