Surgery helps some Ehlers-Danlos patients; but multi-systemic effects remain
This is a remarkable story about Kelly Koep, a young lady with Ehlers-Danlos Syndrome, who is beating the odds. Her surgeon, Dr. Fraser Henderson, is still taken aback at the extent of the disabling conditions he sees in more than 500 EDS patients. EDS expert, Dr. Clair Francomano, says, “There’s a lack of knowledge in the medical community about the many manifestations of this condition.” Learn more in this informative Washington Post article.
By Jeff Leen, Washington Post
“Mildred Burke had one of the strongest necks in the world.
A champion pro wrestler in the 1930s and the first female athlete to earn $1 million, Burke was only 5-2, but her bulging neck measured 14 inches around. To entertain the crowd, she would lie on her back in the center of the ring and lift her body off the mat using only her head and neck, in what is known as a “bridge.” She was featured in “Ripley’s Believe It or Not” for performing 80 neck bridges at one time.”
Mildred Burke’s great-granddaughter has one of the weakest necks in the world.
Kelly Koep, 27, of Grant’s Pass, Ore., has Ehlers-Danlos syndrome, or EDS, a genetic disorder that interferes with the synthesis of collagen. Once thought to be extremely rare, EDS was identified at the turn of the 20th century and comes in six forms that range from mild to severe.
Evidence suggests that the most common form, which often results in double-jointedness, occurs in one in 100 people; about one in 5,000 have more severe cases, which sounds like a nightmare out of science fiction: The ligaments in the body cannot hold the bones together.
Koep’s is one of the most severe cases. Over the years, she has repeatedly dislocated elbows, knees, shoulders and — four times — her jaw. “I’ve always been that kid who could do weird, contortionist sorts of things,” she said. “I can basically fold my back in half and rest my shoulder blades on my butt.”
More recently, the increasing instability in her spinal column required her to wear a neck brace and to use a wheelchair. She got up only twice a day, to use the bathroom. There was concern that her loose vertebrae might be compressing the arteries in her neck, risking stroke.
“It felt like my head was so full of pressure that it was going to explode from the inside out,” she said.
On Christmas Eve last year, she came to Doctors Community Hospital in Lanham, Md., for a 31 / 2–hour surgery by Fraser Henderson of the Metropolitan Neurosurgery Group in Chevy Chase.
Two days after the surgery, in a hospital hallway, she was able to walk more than 200 feet for the first time in more than a year.
“I immediately felt better after the surgery,” she said. “For three years I had been thinking there was no other answer. I’m only in my 20s; I’m not even 30 years old yet. That was so depressing. And now to think I’m going to get a little bit better. I’m going to get part of my life back.”
More than growing pains
Early on, Koep’s parents recognized that she was different.
As a toddler, she dislocated her elbow when she fell out of bed. She dislocated it again while being carried by a relative. That didn’t look good: Her mother, Wendy Koep, had also been a pro wrestler.
“The second time it happened, the hospital accused my mom of child abuse,” Koep recalled. “They held her at the hospital and called Child Services on her. They couldn’t believe her. Finally, they got ahold of my doctor.”
Always, it was just loose joints, growing pains. Her hips and feet gave her trouble when she walked. Then the parade of sprained ankles, dislocations, subluxations. She was always on crutches at school. She was strong, like her great-grandmother — the same body type, compact and stocky. But even though she was stronger than the boys, she couldn’t play sports because of her weak joints.
Fifth grade was knee braces, sixth grade was ankle braces, seventh grade was a back brace. She had trouble breathing, and they said she had athletic asthma. She got blurred vision. She couldn’t concentrate in class. At 16, she dropped out and ran away from home. Eventually, she came back, got her G.E.D., learned to meditate and beat back her depression. “I realized my life wasn’t going to get better until I made it better,” she said.
In 2005, when she was 19, an orthopedic surgeon told her she probably had a condition called EDS, hypermobility type. It was incurable, and surgery was not recommended.
She researched EDS on the Web and didn’t find much. Loose joints have been around forever, but EDS was named only at the beginning of the 20th century, after the two physicians who first described it, Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France. It was not until 1998 that the criteria for an EDS diagnosis were established.
In 2006, Koep and her mother attended a conference of the National EDS Foundation in Austin. “Everything they were speaking about sounded exactly like me,” Koep recalled.
She resolved to live as best she could. She was careful to sleep flat on her back, and she did exercises to strengthen her muscles. She went to beauty school, and after graduating she and her boyfriend started a new life in Las Vegas, where she worked at the spa at the MGM Grand.
But her condition followed her. “It was too hard for me to work in the salons and hold up blow driers,” she said. So she became a cosmetology instructor.
One day she took an ill-advised ride on a roller coaster.
“I couldn’t walk straight” afterward, she said. “I had so much pain I couldn’t even see straight. That roller coaster could have killed me.”
One doctor in Las Vegas thought it was multiple sclerosis. Up to this point, she thought that EDS affected only her joints. Now she thought, “Is it possible that EDS is affecting my spine?”
Another doctor, an expert in brain and spinal abnormalities, told her it definitely was. “He said the ligaments in my spine were loose and not holding up my head, and he said it was causing a spinal-cord compression.” He prescribed a brace. “He said I might have to wear the neck brace for life and deal with the disability.”
She moved back to Oregon to live with her mom, her condition clearly worsening. She suffered from tremors. “I was getting so many neurological symptoms that I couldn’t even live my daily life. I got to the point where I started choking so bad I almost died a few times.”
Five years had gone by since she had done her initial research on EDS.
“I got back on the Internet and I started Googling around,” she said. “This time there were results all over the place. Facebook was just a huge network of EDS people talking about special surgeries. A lot of them have the same problem I have with my spine. The main surgeon that everyone was researching was Dr. Henderson. That is how I first heard about him. From a Facebook group.”
‘A lack of knowledge’
Fraser Henderson received his bachelor’s and medical degrees at the University of Virginia. As a lieutenant in the Navy, he was a surgeon on a ship in the Mediterranean in October 1983 when mangled survivors of the Marine Corps barracks bombing in Beirut were brought in. He received the Navy Commendation Medal for his work that day.
He was a surgical director at the National Naval Medical Center in Bethesda, a brigade neurosurgeon in Desert Shield and Desert Storm and a fellow in neurosurgery in London before becoming a professor of neurosurgery at Georgetown University Medical Center.
He estimates he has seen more than 500 EDS patients over the past decade. He said 95 percent of them have been women and they are usually inordinately bright and extremely knowledgeable about their disorder.
But despite his experience, he is sometimes taken aback at the extent of the disabling conditions he sees.
“I’ve seen many cases where I literally wanted to run away,” he said. “Some patients have been so critically ill that no one would touch them. Many of them have been to university programs and had been turned away. And I was very concerned myself as to whether I could take care of these most severe cases.”
Henderson is one of a small group of doctors working to educate people about the disorder. A colleague in the effort is Clair Francomano, a geneticist at the Greater Baltimore Medical Center. She calls EDS “really kind of an orphan” disorder and points out that there are no firm data on how many people are affected.
“There’s a lack of knowledge in the medical community about the many manifestations of this condition,” she said.
Misdiagnoses are common because the symptoms can be so varied. Collagen is in many different systems in the body, including the joints, the spine, the heart, the eyes and the skin. Henderson has seen patients with as many as 30 symptoms. He believes that EDS is more common than previously thought, with many people unaware that they are living with the condition.
“None of this information was around, really, more than 14 or 15 years ago, and it’s still not being taught in medical school,” Henderson said. “We were taught that the condition was very rare and we would probably never see a case.”
The Internet has shaped things for the better.
“So many patients are finding their diagnosis by looking it up,” Francomano said. “They put their symptoms into Google and those lead to the Ehlers-Danlos National Foundation and videos by Dr. Henderson and myself and other doctors. They find us.”
Henderson said surgery is not a panacea and should be a last resort in extreme cases where physical therapy has failed, such as Koep’s.
“Dealing with issues one at a time, we have been able to return most of these people to a reasonable life,” he said. “Many have gotten married, gone on to school, taken good jobs. Many patients don’t return to full-time employment, but their lives become more livable.”
The surgery used in Koep’s case is a standard part of the neurosurgeon’s repertoire, he said. He relieved the pressure in her head and fused her skull, C-1 and C-2 vertebrae with a titanium plate and screws.
“What’s difficult about Koep’s case is the fact that in EDS the bones tend to be more delicate, therefore placement of the screws to stabilize the spine is difficult,” he said.
Because EDS is a multi-system disorder, surgery addresses only one aspect of a larger problem, Henderson said. “With the surgery, we can fix certain aspects, we can mitigate the problem, but it doesn’t mean there aren’t other issues.” Many patients require more than one medical or surgical intervention.Henderson recently completed a study of 22 of his EDS patients two years after they had surgery. He found that 14 had improved performance, five had no change and three were worse than before due to other aspects of their condition. Asked by a third party if they would do the surgery again, all responded that they would.
Much better than before
Eight weeks after her surgery, Koep was still feeling much improved. She could get out of her chair regularly and walk around, doing without the neck brace for most of the day.
“It’s amazing,” she said. “I don’t have the pressure in my head anymore. And I am able to walk.”
But only with a limp. Her right hip, always loose, had popped out of joint after the surgery, requiring physical therapy. And she had bladder and bowel problems related to a lower-back spinal condition that may require more surgery.
“It’s like one thing gets fixed and the other thing goes out,” she said.
She still had some neurological symptoms, such as tingling in her hands and arms, and she will return for a follow-up visit with Henderson later in March. She knows that EDS is an ongoing condition.
But her life after surgery is much better than it was before, she said.
For others, too, the surgery has been life-changing. Mackenzie Mathis Spencer, 23, found Henderson after years of being told that her extra flexibility, headaches and dizziness were nothing. Or were MS. Or fibromyalgia. Growing up in Spartanburg, S.C., she had been a cheerleader and an avid dancer. But then her arms started getting weaker — she could barely hold a pencil — and five days before her 18th birthday, she was barely able to walk.
The day after her birthday, a neurologist told her mother, “You know MacKenzie is faking it. She couldn’t smile if she was in so much pain.”
Her mom began searching the Web and talking to friends in Spartanburg. A friend of a friend told her mother about EDS, and eventually she got to Henderson.
He was frank.
“You have very severe neurological symptoms,” he told her. “I’m not sure what we’re going to do.” And then he put his arm around her and said the words she treasures to this day: “I don’t know what we’re going to do next, but I’m going to do everything I can so you can have your life back.”
He operated on her lower back in June 2009. Two weeks later, he corrected a brainstem deformation she also had and fused her spine from the base of her skull through the first three vertebrae in her neck.
One month later, she was able to dance again. Two months after that, she had her first public performance in two years. She ended up graduating from high school as valedictorian.
Last year, she graduated — after just three years — with a 3.88 average from the University of South Carolina Upstate and took a job as a health-care consultant in Washington. That same month she got married.
“It’s something that I never expected to happen,” she said. “I never expected to get my life back.”
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