Aug. 03, 2010 -- Olivia Court spent the first years of her life unable to run, jump, or even walk, but thanks to a revolutionary "second skin" suit, the 3-year-old British toddler can now run and play like other kids her age.
Olivia was born with a severe form of Ehlers-Danlos Syndrome (EDS), a rare genetic disorder that causes her joints to be hyper-flexible -- so flexible that her hips and knees would regularly dislocate when she tried to walk.
When wearing a revolutionary custom-made lycra suit however, Olivia's spine and joints are supported enough to prevent dislocation. Her progress has been so promising, that surgeons have delayed and will possibly cancel intensive surgeries to reconstruct Olivia's hip joints, the girl's mother, Lena Court, told ABCnews.com
EDS affects the body's ability to build collagen. While most people associate collagen with youthful-looking skin, these naturally occurring proteins are also essential for building ligaments, arteries, and other body structures.
Collagen is the mortar that holds your cells together, and when it is lacking, those with Ehlers-Danlos suffer from overly-mobile joints, super stretchy, paper-thin skin, easy ligament tears and ruptures in their internal organs and blood vessels.
Hypermobile, but Unable to Walk
Olivia's parents first noticed something was wrong with their little girl when she was slow to crawl and there was a mysterious "clunking" in her joints when she moved that could be heard from across the room, Lena Court said.
When Olivia's foot got stuck under the couch and easily turned all the way around, facing the wrong direction, her parents knew something was seriously wrong because Olivia didn't even flinch.
It was only after a slew of misdiagnoses -- several of which indicated that Olivia may never be able to walk -- and a number of unsuccessful surgeries, that the Courts were finally referred to a geneticist, who diagnosed the little girl with Ehlers-Danlos Syndrome.
Painfully intensive physical therapy had helped Olivia strengthen her muscles enough to allow her to take her first steps. But she still dislocated frequently and suffered from chronic fatigue.
Then a local club, the Earl Shilton Lions Club, agreed to do what the United Kingdom's National Health Service would not: fund an experimental Second Skin Lycra suit to support Olivia's growing limbs. That's when thing really started to change for her.
"Olivia [had] watched her friends running, jumping, climbing and playing whilst she laid on the floor," Court said. "She had never worn a pair of willies and kicked up the autumn leaves." With the new suit, which she wears eight hours a day, "the improvement in her is amazing. She still needs her wheelchair when she's out, but she can play for longer, and even run and jump," Court said.
"It is by no means a cure for her condition, there is no cure for EDS, but this Lycra Suit has…given Olivia a lease [on] life!"
The Downside of Flexibility
Lynn Sanders, 52, founder of the Ehlers-Danlos Syndrome network C.A.R.E.S., Inc. in Wisconsin, suffers from a similar form of Olivia's disorder, known as hypermobility EDS, which affects the joints and ligaments.
Sanders' EDS started when she was in her teens. She had joint pain and easy sprains. For the first thirty years of her life she was told she was merely having growing pains, or that she was a "klutzy kid."
"Because you can't see ligaments on an X-ray, I was always told that my bones were fine, so I was fine," Sanders says.
She suffered from severe joint pain, however, and though she was active in sports -- the hypermobility gave her a leg up, she says -- she was always getting sprains and injuries. She also experienced "horrendous" pain when her ligaments would tear, and once torn, they could not heal because they were so fragile.
At 18, she needed surgery for a tear in her wrist, the first of some 40 surgeries she's had to date to fix damaged ligaments.
Traditionally, the treatment for Sanders' type of EDS has been braces, physical therapy to strengthen the muscles supporting the joints, and painkillers, but surgeries using ligament grafts are becoming more common. Though these are temporary fixes and last about five years, they offer a measure of relief, Sanders says. There is no cure for EDS.
There are six formal types of EDS, depending on which kind of collagen in the body is affected. Olivia is still undergoing genetic testing to determine which form of the disease she has. It was only after Olivia was diagnosed with EDS that her mother, Lena Court , realized she too suffers from Hypermobility Syndrome, a type of EDS. So does her ten-year-old son Charlie.
Those with classical EDS are well known for their super-stretchy, but fragile, skin, while those with Sanders' kind will have joints that bend in both directions, and can be prone to dislocated joints.
"These are people who can roll over in their bed and dislocate their hip," says Dr. Gary Gottesman, a medical geneticist at St. Louis University School of Medicine. One patient he knows, he says, has even learned how to pop his joints back into place himself because dislocations occur several times a day.
"He's learned to live with it and uses it to his advantage in doing martial arts," Gottesman says.
Fatal Consequences of Lacking Collagen
The most difficult form of the condition to treat, says Gottesman, is vascular EDS, in which blood vessels and internal organs are weakened and prone to sudden ruptures.
In these cases, the condition is more than disabling, it can be fatal. On average, those with vascular EDS don't live past age 40 and repeated ruptures in their blood vessels or internal organs result in emergency operations, says Dr. James Black, associate professor of surgery at Johns Hopkins.
Traditionally, surgeons have shied away from pre-emptive surgery in these cases, waiting for a rupture to strike before operating, but Black has had some success with earlier interventions with grafts.
When Sanders started the Ehlers-Danlos Syndrom Network, there was barely any research being done on this disorder, despite the fact that it affects as many as one in every 10,000 people.
"There wasn't enough awareness," Sanders says, adding that many patients go undiagnosed for decades and others, especially with more mild hypermobility, never figure out what's behind their pain.
The network, inspired by Sanders' best friend, who died of vascular EDS, is volunteer-based, so all the money raised goes directly to funding research, primarily at Johns Hopkins, she says.
"The time they have to live is way too short," Sanders says. "I want to make a difference."
For more information on Ehlers-Danlos Syndrome, see the EDS Network's Website