Ehlers-Danlos Syndrome Bracelets

Karyn Badgett and all three of her children were born with Ehlers-Danlos Syndrome, a hereditary connective tissue disorder.

But none of them knew until eight years ago.

Alana, the oldest child, began hollering out in pain in the night at age 6. She suddenly stopped walking because each step hurt. Her pediatrician attributed the changes in Alana to growing pains.

Karyn accepted that answer at first. But the more she observed Alana, the more she wondered what was happening to her daughter. I noticed that when I got around her knees, the temperature seemed hot and they looked swollen,†she said.

Finally, Milton S. Hershey Medical Center in Pennsylvania, where the Badgetts were living at the time, ran tests on Alana. Fluid had pooled up behind her knees and her kneecaps were dislocated. Her right hip was out of position too.

“How it happened we had no idea,†Karyn said.

In between the blood tests, MRI scans, heart tests and a diagnosis, the school called to report that Alana was dragging her left leg on the playground and had no strength to control muscles in her leg.

Soon a group of specialists at Hershey produced an explanation Karyn had never heard of: It has to be Ehlers-Danlos Syndrome.

Most surprising of all, Karyn and Alana were both diagnosed with the condition at the same doctor 's appointment.

Karyn 's own physical history helped the experts reach the diagnosis. Dislocations, torn ligaments and broken bones were a consistent pattern in her life all that time she had thought it was because she was clumsy or accident-prone.

Almost every year I had something casted,†she said.

The realization that her genes were responsible for her daughter 's suffering was hard for Karyn to accept.

A year later the guilt grew even bigger: Kennedy, her other daughter a toddler at the time and her son, Zachary, were diagnosed with the same condition, a hypermobile type of EDS.

“I really held on to this big burden,†she said.

Alana was placed in what looked like a polio brace and the pain went away.

A mystery illness

Historically, some people have made a career out of having EDS.

Once headlined in circus side shows as India Rubber Man or Elastic Lady, contortionists with EDS drew crowds by stretching their rubbery skin and twisting like pretzels.

They had the classical type of EDS, which is the easiest to diagnose because its traits are the most pronounced and unusual. But this is only one manifestation of a complex, multidimensional disease.

Genetic mutations create distinct, but related, disorders that fall under the same name, with symptoms ranging from mild to life-threatening. What 's common among the six types of EDS is a defect in collagen, a protein that knits muscles, skin and ligaments together.

Clearly a rare condition, EDS shows up in one of every 5,000 births. Because of its bizarre manifestations and a lack of understanding among medical professionals, getting a diagnosis sometimes takes 30 years and by then much damage might have occurred. Physicians might miss the diagnosis because they are looking for a narrow set of features. Some people with EDS have died as a result or been left unattended until a traumatic event reveals what 's going on.

Children with EDS sometimes arouse suspicion. Some parents of EDS children have been accused of child abuse because their children are injured severely or frequently.

Though harmful and frowned upon today, some people such as Garry Stretch†Turner still make a living doing acts. He made it into the 2007 special edition of Ripley 's Believe It or Not for pulling his neck skin over his mouth.

But elongating the skin for a captive audience only makes the condition worse, according to Dr. Mark Lavallee, co-director of the South Bend Sports Medicine Fellowship in Indiana who also has classical EDS. Two other types of the condition are representative: hypermobility and vascular type EDS.

Unexplained joint pains and double-jointedness can be troublesome for people with hypermobility EDS. They might hold down jobs as construction workers or models, but wrestle with physical instability. Getting up from a chair can cause their kneecaps to slide out of place. Rolling over in bed can cause their shoulders to dislocate.

The deadliest type vascular EDS attacks internal organs. Organ and blood vessel ruptures are a risk. Super-elastic skin isn 't a characteristic of this type. A blood test or skin biopsy can detect vascular EDS.

Patients from around the globe hungry for answers seek out Lavallee. Besides his work with severe cases of EDS, he also teaches people doing their fellowship in sports medicine to consider the possibility of EDS if a patient has dislocated his shoulder at least five times. Excessive joint motion, joint pain and a family history of organ ruptures are clues.

“It can masquerade as so many other things,†he said, such as juvenile rheumatoid arthritis.

X-rays won 't reveal the weak tissue around a joint. But after a joint takes enough beating, the damage can become clear on an MRI. Sometimes it takes a geneticist to make a definitive diagnosis.

This is a syndrome with no cure. When a patient is diagnosed with it, doctors sometimes throw up their hands. Lavallee said patients should seek out a doctor who can tell them how to manage pain, strengthen joints, avoid the early onset of arthritis and prevent organ ruptures.

Getting a medic-alert bracelet that describes the condition can also prevent mishaps, such as an EMT dislocating both shoulders when yanking a person with EDS out of a car, said Lavallee, a former firefighter.

The Badgetts, who now live in Albuquerque, all wear such bracelets. Each bracelet varies in its warning because each case is so individual. The bracelets for Alana and Kennedy say the girls are subject to dislocations. Their brother Zachary 's bracelet says he is prone to bleeding complications. And mom 's bracelet says she is sensitive to anesthesia.

Life goes on

Coping strategies vary from person to person.

Lavallee remembers stretching his skin to the max to reveal his scars to doctors making their grand rounds.

When he was diagnosed with classical EDS in the fifth grade, doctors at Johns Hopkins prescribed a sedentary lifestyle. Schools in the 1980s didn 't offer adaptive physical education for people with disabilities.

He got fat. Then he got miserable.

Today, Lavallee says weigh lifting saved his life. In time, he got into Olympic weight lifting, rock climbing and mountain biking.

“I 'd rather get hurt and have more scars, than not live life to the fullest,†he said.

The Badgetts take it a day at a time. They want their children to have no regrets about their childhood, but team sports and public schools haven 't worked out well.

“My children ride their bikes; my son has been on a snowboard,†Karyn said.

But everything has its consequences. Alana fell off her bike and sustained three tiny puncture wounds in her left arm. The blood gushed and was hard to stop. An X-ray showed no broken bones or dislocations. Two weeks later, her arm looked blue and tingled painfully.

What would have amounted to road rash for a typical kid led to extensive injuries for Alana because of her soft, pliable tissue. A cactus needle, doctors surmised, had severed a nerve in her arm and partially torn an artery. Rebuilding Alana 's arm involved two surgeries totaling 11.5 hours.

Today, left-handed Alana has to work around numbness in her fingers and weakness in her forearm.

“I still let her ride her bike,†Karyn said. I truly believe children are resilient for a reason.

She has learned not to panic when Alana, 14, Zachary, 11, or Kennedy, 9, gets hurt. She takes a deep breath, administers basic first aid, and either calls the pediatrician or drives to the urgent-care clinic.

But frequent trips to the clinic can raise eyebrows.

“People look at you like you 're doing something wrong,†she said, but she said the family 's pediatrician has been very understanding.

Because the Badgett children rarely show visible signs of disability, school workers and classmates don 't always comprehend their needs.

Once Zachary 's physical-education teacher urged him to go out for soccer because he was such a good kicker. He had never had joint problems before only skin and bleeding issues so his parents reluctantly agreed. The first time Zachary punted the ball his foot got caught on a root and he dislocated his hip. For the next nine weeks, he had to wear a cast from his ribs to his knees.

About 21/2 years ago, Karyn and her husband Fred decided it was easier to homeschool the kids than try to get the schools to accommodate them.

Karyn is happy to see that her children haven 't given up. Despite all she has been through, Alana has a beautiful, free spirit.†She likes Christian rap music and takes hip-hop classes.

“I can 't raise the kids in a shelter. I think that 's more unhealthy,†Karyn Badgett said. So far, they have found more joy than injury as long as they 're cautious.