Knowing you're not alone!

As with many rare disorders, the toughest challenge for those confronting them, aside from the disorder itself, is sense of being alone.  "Our Journey With Ehlers-Danlos" is a sharp, hearfelt "web log" in the best sense. Filled with practical resources, "Our Journey" offers real hope in seeking to confront Ehlers-Danlos as a challenge, rather than letting the disease become an insurmountable obstacle. To its writers, we offer thanks!

Ehlers-Danlos: A Rare Profile in the News

Ehlers-Danlos is a very rare genetic disorder. Thus, it is rarely in the news. But, this profile from Salt Lake City's Deseret News really paints an extraordinary portrait of both the disease–and the courage of its sufferers. Here, writer Lois M. Collins captures the human struggle perfectly. Our kudos to her and the Deseret News.

Lacy Chambers, then 11, was playing volleyball when her shoulder slid out of its socket the first time. She had two surgeries over the next three years.

When she was 14, she was walking on the porch when her hip dislocated. That time, she was in a wheelchair for six weeks, able to leave it for only very small journeys. Two weeks after that, her other hip dislocated as she was getting up. She was placed in leg braces and a wheelchair for another six weeks.

Then her jaw dislocated, followed by her neck, her fingers, her wrists, her ankles and her knees. She was home-schooled for a while, deemed too fragile to risk public school. Every joint, it appeared, was at risk. Once, another student, jostling past in the hallway, grabbed her arm and the shoulder popped out again.

Kim Hansen was hospitalized for internal bleeding after a blood vessel ripped open when he was jogging. Another time, at work, a pipe hit him in the head and a blood vessel started leaking into his nasal cavity. Doctors had to do brain surgery, including tying off a carotid artery.

One day, playfully wrestling with his two young children, he sustained a little kick to the abdomen and was hospitalized for internal bleeding, which was expected to stop on its own. It didn't. He died from the damage to his organs. He was 36.

Though their symptoms appear to have nothing in common, both Chambers and Hansen had Ehlers-Danlos syndrome, an inherited condition caused by a defect in connective tissue. According to the national foundation that bears the syndrome's name, fragile skin and tissue and unstable joints are the result of faulty production of collagen, a protein that acts as "glue" in the body.

There are six major types of EDS, each designated by their symptoms. Chambers' hypermobility is an example of the most common form, which is also the most painful. Fully 95 percent of cases are hypermobile, or vascular, like Hansen's, or "classical," which is associated with scarring, "stretchy" skin, extensive bruising, slower wound healing and various internal-organ issues, according to Terri Keyes of the Ehlers-Danlos National Foundation. Vascular EDS is the least common of the three, but it is the one that can cause premature death.

"All types are woefully underdiagnosed," says Keyes. "Lack of diagnosis increases the health risks for people who have this, especially in surgery and pregnancy, as extra precautions need to be taken to reduce risk and increase the possibility of a successful outcome. Surgeries on undiagnosed vascular type are extremely risky," also true to some degree for all types of the syndrome.

The types do not change within families. A family with joint hypermobility EDS will not produce a child with vascular EDS, for instance. It's estimated that 1 in 5,000 people have EDS, which can afflict children or adults of any race and either gender.

Hansen's daughter, April Atwood, inherited his Ehlers-Danlos, while his son did not. But she has been affected in markedly different ways than her father. Her mother, Denise Groves, suspected the girl had inherited the condition because she bruised so easily. The first symptom appeared at age 14, when she got cramps that wouldn't go away. At Primary Children's Medical Center, doctors found that her area of vulnerability is her intestinal tract, which ruptures and bleeds.

"The doctor told me it was like sewing up Jell-O," Groves says.

At that time, she was hospitalized for six weeks fighting infection from the rupture.

But her mother says that in many ways Atwood has been lucky. She has been able to go everywhere. "She was on the swim team, because it's low-impact," Groves says of her daughter. "Running or team sports would have been out of the question."

Lacy Chambers, on the other hand, gave up gymnastics and violin because of the stress on her joints. With hypermobile joints, children are sometimes encouraged to stay home from school to avoid injury, and her mom, Dawn Lynn Heuer, briefly home-schooled her for that reason.

When Atwood was younger, she bruised so easily that her mother was afraid officials would "grab me for child abuse. It happens to families." Even a friendly touch on the arm can leave finger-shaped bruises.

Groves learned vigilance with her daughter. It was hard to differentiate between a stomach bug and a crisis, but if intense cramping lasted very long, they'd head for the hospital. Groves remembers car rides where she was shaking hard, worried that the emergency room doctor would, like so many others, be unfamiliar with Ehlers-Danlos or know only of one type. "There are certain tests you have to be careful with," she says. "You can't shove things down her throat or start poking. The tissue is so fragile it can rupture easily. A little lack of knowledge could kill her."

During Atwood's first bout in the hospital, the doctors took a tissue sample and sent it to an EDS specialist out of state, who checked it for the genetic markers and confirmed the diagnosis, something only possible with vascular EDS. The other types are diagnosed based on family history and symptoms, says Dr. Mark Lavallee, a national expert on EDS from South Bend, Ind., who is board-certified in family medicine, sports medicine and nonoperative orthopedics.

Lavallee himself has the classical type of EDS. He likens it to having skin made of tissue paper, where others have construction paper. When the average person falls and gets an abrasion, he says, someone with classical EDS gets a much larger, more troublesome wound, difficult to sew up because the needle tears the skin. That form is also marked by noticeable scarring, bony protrusions and some dislocations of joints, though not to the extent of someone with hypermobile EDS. And while bleeding is a huge problem for those with vascular EDS, it's not insignificant in the other types, either.

There's no prevention for the genetic disease, and experts are trying to develop diagnostic tests for the nonvascular forms of EDS, Lavallee says. They're collecting blood and tissue samples, but the task is complicated because the body produces 11 different types of collagen from skin and nails to tissue and tendons, all found in multiple locations on various chromosomes.

There's also no disease-specific treatment.

"A lot of it is common-sense things like diet and exercise and not smoking and avoiding activities that will wear out the joint," he says. "The other is strength training. The muscles are fine, it's tendons that are problematic. If you keep the muscles strong, there's less laxity and dislocation." Lifting weights tends to strengthen tendons and ligaments, too, he says, and "a thicker and stronger tendon is better than a weaker, flabby tendon." But it has to be mild strength training.

An aortic complication is often present for those with classical or hypermobile EDS, so he urges caution with breath holding and strength training for those patients. "We monitor blood pressure diligently and get contrast to look at the baseline aorta and internal organs."

The foundation is making a huge effort to educate the public and physicians, Lavallee says. They've created medical reference guides and are doing outreach to conferences for rheumatology, for instance. They produced an educational CD, patient education resources and more. Their Web site, www.ednf.org, is packed with information.

Atwood hasn't had to rush to the emergency room since she graduated from the children's hospital. But she and her husband recently moved to Atlanta, which has left her mom feeling unsettled. "When she moved in September, I spent most of my time crying. I miss her, yes, but I'm scared to death."

EDS is something patients, properly diagnosed, learn to live with. They teach themselves to avoid as many of the episodes as they can. When Chambers feels like her ankles are particularly weak, she puts on ankle braces until they feel more stable. Some days she does well and on other days her joints are "really loose" and she has a lot of pain.

EDS did provide her with one bonus. She started receiving treatment at Shriner's Hospital for Children and along the way befriended a physical therapy assistant who was working there while he went to college. They stayed friends, though they drifted apart as her condition stabilized. Years later, they got reacquainted and they are now married with their own little boy.

Elijah is 10 months old and they're watching him for signs of EDS. The type she has confers a 50-50 chance a child will inherit it.

She's also maintained a sunny disposition, despite chronic pain. "There's nothing I can do about it, so why not be happy?" she tells her mom.

"I know my limitations and things I should avoid. That's how I control it."