Group aims to help sufferers of rare disease

Meghan Rudisill takes her time getting out of bed every morning - sometimes relishing a moment with no pain. She can't sit long either, or stand long, since the tail of her spine often dislocates and threatens to cut her spinal cord.

"You get used to pain and discomfort," Rudisill said.

But she finally knows why. The Scottsdale 26-year-old has a rare disease that causes a defect in her collagen and connective tissue. It's called Ehlers-Danlos syndrome, or EDS, and in some forms is life-threatening but is often overlooked or undiagnosed.

Rudisill is president of the Phoenix metro branch of the Ehlers-Danlos National Foundation, which holds monthly meetings offering support and information for patients and their families, as well as fundraisers.

She recently met a new advocate for her condition: Denise McGinley, the new director of Mercy Gilbert Medical Center's orthopedics-neurology unit, whose goal is to educate the public and doctors about the disease and encourage more research.

"The disease really needs some exposure in a big way," said McGinley of Gilbert.

McGinley has personal experience with the disease - it took the lives of two of her children. Her oldest son, Tim, died almost four years ago at 27, and Jon died five months later at 25.

Since, McGinley has focused her efforts on reaching out to doctors to teach them about the illness and that victims of EDS aren't hypochondriacs as they are often mistaken.

Doctors often assume patients are exaggerating symptoms or their illness, she said, because they often appear healthier than they are, and their test results can be normal.

There are six kinds of EDS. The hypermobility form that Rudisill has, and which affects one in 10,000 to 15,000 people, affects the joints and causes dislocations in every part of the body.

Patients live with pain and often can't work or need aids due to injuries caused by the dislocations.

The only test to diagnose it involves testing the ability for the patient to dislocate their joints and flex farther than the typical person.

McGinley's sons were born with the vascular type of EDS, affecting one in 100,000 to 200,000 people and the only version that cuts anticipated lifespans to 30 or 40 years.

It's often harder to detect since it affects the collagen and connective tissue of organs and arteries. Often diagnosis comes following a catastrophic event, when an organ or artery bursts.

Tim died suddenly of a ruptured aneurysm, and Jon died following five bowel perforations.

The illness is hereditary. Tim's daughter Maeve, now 4, has inherited EDS. She is doing well.

McGinley and Rudisill plan to work together to raise awareness of the disease, help those who may have the disease, and plan events to raise money for research and the foundation. They both get calls from sufferers who can't get their doctors to diagnose them.

While there are six types, common symptoms include a thin skin that is sometimes translucent or stretchy, urinary or bowel issues, the feeling of being "clumsy" or getting into a lot of accidents, and bruising.

Vascular patients at times have no ear lobes and features that include a thin nose and large eyes.

The Phoenix group also raises money when it's selected as a recipient by shoppers on www.igive.com.

For information, visit www.ednf.org, or contact Rudisill at edsphoenix@yahoo.com or McGinley at (480) 728-9461.