During karate practice, Taylor Mullen heard a snap in her right leg and felt a fiery pain. Four years later, the pain hasn't diminished, but has instead taken on a life of its own. "It doesn't feel like a broken bone," says the 16-year-old. "It's worse, like someone is sticking knives into my legs. And it burns—it's the burning that gets to me." Taylor's parents, Nate and Chris, took her to a stream of specialists near their home in California, most of whom were as mystified as they were. Nothing was broken, MRIs and neurological tests indicated that Taylor didn't have nerve damage; casts and spinal blocks didn't help the pain or her increasing sensitivity to touch and temperature. Instead, the pain intensified, spreading to her other leg and up both thighs.
Taylor's limping became hobbling, and crutches were traded in for a wheelchair. Immobilized and in anguish, she stopped going to her freshman year of high school and eventually got out of bed only to go to the bathroom. As her friends dropped away and doctors shrugged their shoulders, the only thing she looked forward to was bedtime. "You don't hurt when you sleep," she says.
One of Taylor's specialists had diagnosed her with complex regional pain syndrome, also known as reflex sympathetic dystrophy (RSD), a rare neurological condition that affects skin, muscles, joints, bones and nerves. But the sporadic physical therapy (PT) he prescribed didn't improve her condition, and he recommended she stop. He also forbade her to research RSD online, knowing that she'd find misinformation about its prognosis. "Of course, Taylor Googled it immediately," says Nate. And while she did discover unsettling information about the severity of the syndrome, she also found an announcement about the opening of the Mayo Family Pediatric Pain Rehabilitation Center (PPRC)—a pediatric RSD treatment facility at Children's Hospital Boston at Waltham. Taylor emailed the clinic describing her dilemma, and immediately heard back. Although the clinic hadn't officially opened, the Mullins were on a plane to Boston within the week.
Taylor is the textbook RSD patient: a teenage girl who plays sports and happens to be double-jointed. In severe cases like hers, the affected area—usually a leg or arm—becomes so sensitive that even the touch of clothing on skin or air from a fan can induce shrieks of agony. RSD usually occurs after a seemingly innocuous injury, like a bump or bruise, but can also happen after a sprain, fracture or, more rarely, a medical procedure. Other times, there's no clear cause. "Many aspects of the syndrome are still a medical mystery," says David Leslie, MD, clinical director of the PPRC. "Pain is natural, and we need that response to let us know we're in danger. RSD is like a normal response to pain, only hugely amplified." When a part of the body gets hurt, signals sent from the injured area turn on a corresponding part of the brain in the sensory cortex. But with RSD, those signals don't stop firing. "It's like the signals have gone haywire," says Leslie.
Charles Berde, MD, PhD, executive director and founder of the PPRC and an expert in RSD, likens the disease to a phenomenon commonly experienced by amputees, known as phantom limb syndrome, in which physical sensations (from a nagging itch to serious pain) are still felt from the missing limb, as strongly as if it were still there. In fact, Taylor had asked her California doctors if they could amputate her legs to rid her of the pain—a prospect her parents would have supported had doctors agreed to it. "In Taylor's case, if physicians had actually cut off her foot, she'd still say her foot hurt," says Leslie.
While RSD is a complex condition, the PPRC's treatment approach is surprisingly simple: intensive physical and psychological therapy to retrain the brain and get it to "reboot" the pain response. "It's really the only disease you can exercise your way out of," says Leslie. Once patients regain normal function, their normalized movement somehow decreases the abnormal pain signaling. The rigorous (all-day, five-days-a-week) program aims to get patients not only up and walking, but also running, in just six weeks, so there's no time to waste. When Taylor arrived, a spitfire buoyed by the possibility of recovery, she could stand for three seconds before collapsing, partly from the pain and partly because her leg muscles had atrophied. Like the other girls in the program, Taylor had to put on socks—which she hadn't worn in years because wearing them was so painful—on the second day to start the desensitization process and help break the pain cycle. "That first day, they were all screaming and howling like you can't imagine, and we thought, 'What in God's name are they doing to these poor girls?'" says Nate. "It sounded like a torture chamber."
Bit by bit, patients overcome their natural fears of using a hurt part of their body. Tearful, yelping girls retrain their bodies to stand, swim, walk and even play sports. Despite the discomfort, Taylor quickly gained strength, wore shoes for long stretches and put more and more weight on her legs. With each exercise, she was retraining her brain to stop accepting or sending errant pain signals, which, in turn, would eventually decrease the amount of pain she felt. "You power through the pain," she says, while squeezing Play-Doh in her fist to distract herself from the throbbing in her leg. "It might be hell for six weeks, but my life would have ended if I didn't try this."
Sometimes, the girls' pain decreases soon after they start the rigorous PT regimen, but for most of them, it's about learning how manage it. "We try to take away the fear around the pain and teach them not to focus on it," says Judy Gaughan, RN, PPRC clinical coordinator. It's also about teaching patients that their pain is due to improper signaling rather than a real injury, so they can learn to let go of it. "We teach them to think, 'I have this pain but it will get better and I will go on with my life,'" says Gloria Chiang, PhD, PPRC psychologist. "Stress exacerbates pain, so they learn relaxation, guided self-imagery and deep breathing to let them know they have some control over the pain. Once they change their thinking about it, their anxiety decreases and they can move better without having quite as much pain."
Psychologists also address the residual effects of living with such an unusual, highly debilitating condition, including depression. Many patients had thought—or been told—they'd been suffering from a purely psychological disorder and needed help overcoming the disbelief of friends and family. "I thought I was crazy for years," says Taylor. "It messes with your whole mind."
At first glance, the PPRC seems chaotic and confusing. When the girls are pushing themselves to get through an exercise or group activity, their shouts and tears evoke the Salem witch trials: these young, healthy-looking girls seem possessed by pain. Other times, the clinic could pass for summer camp: girls giggle while playing board games, race each other down the halls and scamper around doing crabwalks. "They're either crying or laughing," says Gaughan, who's been the target of many a camp-like prank, often courtesy of Taylor. "They actually have a blast a lot of the time."
"It's amazing for these kids who have the same strange disease to meet each other and say, 'I'm not some kind of freak after all!'" says Leslie. "They see others like them and that they're all in this together." Still, the clinicians do their most to encourage friendly competition and have been amazed at how the girls have pushed each other to keep going. Every achievement is greeted by whoops and cheers from the clinical team and other patients (when Taylor first moved her big toe, the room erupted in applause). And when the girls get worn out and morale drops, the team breaks out the big gun: Leslie, who is their biggest cheerleader and not afraid to show it. He races them on wheeled stools and lets himself be body-checked into walls. "I'll do anything to get them moving and having fun doing it," he says. During a recent scavenger hunt around the hospital, girls wheel-barrowed him down the hall in order to get the next clue. He even made good on a promise that if a particular patient walked, he'd walk on his hands through the hospital lobby.
Children's doctors are also conducting research in hopes of better understanding RSD and other chronic pain conditions. A team, led by Alyssa LeBel, MD, in Pain Medicine and Neurology, and David Borsook, MD, co-director of the Pain Group of the Department of Radiology, recently conducted the first functional brain imaging study of children with RSD. (The same team has also used brain imaging to study phantom limb patients.) Their images show that pain physically changes structures in the brain and alters brain patterning. The findings are preliminary, but support a new way of looking at pain, which is that when pain persists, the problem may not just be faulty signaling from nerves in the affected limb; it could be occurring in the brain itself. Lebel hopes to relate future RSD studies to other conditions, like arthritis, fibromyalgia and headaches, to understand how chronic pain impacts many aspects of brain function and how treatments can restore normal patterns of brain activity. Also, a planned research program will examine factors that influence outcomes of multidisciplinary rehabilitative treatment.
According to Berde, about 80 percent of the hundreds of patients he's seen with RSD have significant reduction of pain after treatment; one of his former patients is even running marathons. The future isn't clear for Taylor yet. When she packed up to fly home after six weeks, she could run and jump and was looking forward to continuing a strict exercise regimen back home. But her pain is still intense enough to cause her to gasp, and it's unclear when, or if, it will fully disappear. "I'm happy that I'm up and walking, but the pain still scares me," she says.
Despite this fear, she's recovered more than her ability to walk—she's learned how to cope with pain and regained her faith in her ability to get better. She's also gotten her moxie back. Before leaving, Taylor asked if she could burn her wheelchair in a symbolic bonfire in back of the hospital. Doctors ruled that it posed a fire hazard, so she donated it for another patient to use. "I'm motivated now," she says, "I can bear the pain better. I know it's mind over matter."