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When Gracie Lavigne was 2 years old, she lost her balance in a gravel parking lot outside a restaurant and took a tumble. It wasn't anything out of the ordinary for the boisterous toddler, and her mother, Denise, examined her for cuts and bruises without a second thought. But as her fingers brushed over Gracie's arm bone, she felt something strange: two hard bumps resembling knuckles. Fearing cancer, Denise dashed with Gracie to the closest hospital.
There, a medical evaluation revealed that Gracie had multiple hereditary exostoses (MHE), a disease in which benign (non-cancerous) bone tumors grow outward from bones. One in 50,000 people are born with the rare bone disease, almost all of whom have parents with the disorder. Not Gracie. "Statistically, I'm astronomically unlucky," says the now-18-year-old with a sigh. "I'm literally a mutant—my genes mutated."
Her bumps, as she called them, weren't painful at first, and each year more and more appeared. "We'd be watching TV, rubbing her leg and find one," says Denise. "She'd locate some too, and would be excited to show me her new find." The severity of MHE fluctuates drastically; multiple can mean as few as two tumors, but Gracie has a severe case, with around 80 growths all over her body.
At age 6, the bumps caused Gracie no pain, but at dinner one night when she was 7, Gracie stood up from her chair to retrieve a dropped fork and collapsed. Her ankle wouldn't move—it was stuck at a 45-degree angle. At the hospital, X-rays showed that one of the bone growths had completely chipped off and wedged itself into her joint.
She then had the first of eight surgeries to remove growths that were obstructing her movement or causing pain. One time, her mother noticed that Gracie propped herself up on pillows when she did her homework at the kitchen table. When her mom inquired why, Gracie answered that she couldn't raise her right arm high enough to rest it on the table when sitting flat on the chair. A doctor's visit identified a two-inch, branch-like tumor protruding from her humerus, the arm bone that runs from shoulder to elbow.
As her body matured, tumors flared up inside Gracie's joints. First, it was a painful growth in her knee pushing on a nerve. Then it was her wrist. Starting in sixth grade, Gracie's left hip ached on and off, but during her sophomore year, in the winter of 2007, the ache became constant. "I couldn't walk. I couldn't stand," recalls Gracie. Even sitting up for more than 20 minutes was intolerable, which meant she couldn't go to school. Instead, she took class by correspondence. After trying a string of pain medications including Tylenol with codeine, Valium, Cymbalta, oxycodone and OxyContin, it was finally methadone—an extremely strong opioid used to help people kick heroin addiction—that carried Gracie through the day. "It just took the edge off," she says. "The pain never disappeared."
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The methadone made her tired and dizzy, and she found it hard to focus on schoolwork. Confined to her bedroom, she kept herself busy by making jewelry and collages, but the isolation took a toll: "My mental state really went in the toilet," says Gracie. "I stopped hoping for things. I never thought about my future, because I didn't know what would happen."
Her parents were devastated. "Gracie was always a really happy, awake girl—a night owl," says Denise. "Once she was on the methadone, she'd fall asleep with her mouth open on a half-hour drive to a doctor's appointment, wiped out physically and emotionally." Determined to find a cure for Gracie's pain, the family made an appointment with Young- Jo Kim, MD, PhD, an orthopedic surgeon at Children's Hospital Boston.
Kim suspected that Gracie's MHE was causing her to suffer from hip impingement, a newly identified condition that's now believed to be a major cause of hip pain in young adults. In a typical hip, the joint works like a ball and socket, with the head of the thighbone fitting smoothly into the cup-shaped bone of the pelvis. "In hip impingement, the ball and the socket of the hip joint rub together, which can cause damage to the cartilage and serious pain," explains Kim.
Hip impingement is frequently undiagnosed. "The deformity that causes the impingement can be subtle and may not show up unless you get high-quality scans," says Kim. A special MRI confirmed his hypothesis: tumors on the neck of Gracie's thighbone were causing hip impingement (see photos at left). Left untreated, the friction could cause irreversible cartilage damage and osteoarthritis.
In the past, there weren't many options for teens with chronic hip pain. Hip replacement was considered a viable treatment only for adults; children and teens were given pain medication and bed rest. "Previously, many people would be told that there's nothing that can be done, and those people would just disappear back to their homes," says Kim. But advanced imaging and new surgical techniques have made joint preservation surgery an option for teens; the operation aims to halt damage to the hip joint before a replacement would be needed.
Kim trained in Switzerland with Reinhold Ganz, MD, who pioneered a new surgical technique for hip impingement in which the hip is deliberately dislocated, giving the surgeon access to the inside of the joint. "When we started doing this surgery, there was a lot of skepticism," says Kim. Opponents argued that dislocating the hip joint was too dangerous because it could damage the blood supply to the bone and destroy the hip. "It was kind of a taboo," he says. But the potential benefits were worth pushing the boundaries. "By being able to dislocate, you can treat the cause of the damage, and also see the damage caused by the deformity," he says.
In June of 2008, Kim worked on Gracie's problematic left hip, and everything went as planned. She was sent home with a 15-inch incision on her hip, and after a few weeks of recovery, the verdict was in: The horrible rubbing feeling in her joint was gone. While it's too soon to tell whether her hip will be pain-free permanently, Kim is hopeful that it won't return and that more tumors won't emerge elsewhere.
Now that Gracie feels good and has been weaned off the methadone, she's starting to think about the future for the first time in years. Able to take part in day-to-day life once more, she's starting to explore new activities, like yoga, which she always wanted to learn. With everything she's been through, it's hard for Gracie to put into words how it feels to be able to participate in life again. "Dr. Kim is my savior," she says simply.
Back in school in time for her senior year, Gracie is swamped with schoolwork but determined to succeed. Her hope is to go to Boston University to study business and art, and eventually open a boutique selling her own jewelry and trinkets by other artists. But for now, like all the other kids in her grade, she just needs to get through final exams. "She's becoming normal again," says Denise. "You can see it in her face. She's happy."
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