Jasmin Floyd was on her way to kindergarten in northeastern Connecticut, buckled into the back seat of her mother’s car.
On the way, she called out, “Mommy, my neck hurts,” her mother, RoJeanne Doege, recently recalled. Doege said she peered through the rearview mirror and tried to reassure her, “Honey, it’s probably just how you slept.”
But it wasn’t – and, not long after that, Floyd’s father noticed that their 5-year-old’s neck was tilted ever so slightly to the side.
It was not the first time the girl and her family had been confronted with troublesome medical questions. Floyd had been born with an unexplained bunion on her big toe, and by the time she was a toddler, she had developed small bumps on her head and her spine. Doctors said the bumps were extra growths of bone, or osteomas, but that they were nothing to worry about, her mother said. Indeed, as Floyd grew, that bone fused and the bumps disappeared.
By January 1999, Floyd was on another quest for answers and, this time, she got one: a diagnosis of fibrodysplasia ossificans progressiva (FOP), a rare genetic disease that causes muscle tissue and connective tissue to turn into bone – gradually forming a second skeleton and making it nearly impossible to move.
“It was the hardest, darkest time of our lives,” Doege said. “We were helpless. There was nothing we could do. It was going to take on a life of its own.”
Since then, there have been bad mornings when the now-23-year-old from Danielson, Connecticut, has woken up with a tight neck or an elbow locked in place, then slowly but permanently lost the ability to move them.
By the time she was 7 or so, Floyd said, her shoulders had started sticking; gradually, she found herself unable to rotate them. She had to relearn how to ride a bike – and soon, how to do simpler tasks, such as switch on lights and turn on water faucets.
She now relies on a “reacher” to pick up things. She uses a long hairbrush to brush her hair and also to help pull on her shirts, laughing about the MacGyver-like skills she has acquired over the years.
“As I got older, I started to learn more about what FOP was,” she said. “Now when something happens, I know what’s happening and why it’s happening.”
But it does not make it any easier to live that way.
It was about a year ago, Floyd said, when her jaw started locking, which “has been the most traumatic thing I’ve ever had to deal with.” Now, she said, she can open her mouth about a centimeter.
“I’ve accepted it the best I can, but it’s not something I can put behind me,” she said. “I dread brushing my teeth. I never used to have any dietary needs, but now I have to avoid crunchy or chewy foods. My jaw gets tired easily.”
She calls each new issue a “new normal.”
FOP is a rare and debilitating disorder that plagues about one in 2 million people worldwide, according to data from the National Institutes of Health. It is caused by mutations in a gene called ACVR1, which regulates bone growth and turns cartilage to bone as children grow up.
Frederick Kaplan, Floyd’s doctor and head of the Division of Orthopaedic Molecular Medicine at the University of Pennsylvania’s Perelman School of Medicine, said he and his colleagues discovered the FOP gene in 2006. He said FOP patients have an overactive copy of the abnormal gene that sends signals to the body’s muscles and soft tissues – especially after an injury – telling the muscles to repair themselves by forming bone rather than muscle or scar tissue.
“The body thinks the injured muscles are fractures and heals them as if they were fractures,” he said. “So the extra bone that forms is normal bone, but it forms in the wrong place and it locks the joints.”
Any attempt to surgically remove that extra bone, he said, “leads to catastrophic explosions of new bone formation.”
Kaplan said patients with FOP are born with the bunion-like bumps – which are not bunions at all but malformations. He said the bumps are not an issue but are “a harbinger of things to come.”
Starting in the preschool years, FOP patients usually start to develop severe swellings in the body’s skeletal muscles that look like tumours.
These “flare-ups” can be triggered by the mildest injuries, such as bumps and bruises. But about 80 percent of the time, the flare-ups occur for no known reason at all, Kaplan said.
Kaplan explained how it happens: Intense inflammation erupts around the blood vessels in the muscles and destroys muscle tissue. Stem cells harboring the FOP gene are then awakened and start to divide and build a scaffold of sorts from connective tissue. The scaffolding turns to cartilage, on which the new bone begins to grow.
“FOP is a particularly cruel disease because, at a time when children are becoming adolescents and adults, at a time when they’re trying to become more independent, their bodies are betraying them because of this mutation and they’re becoming more dependent rather than less dependent,” he said. “People with FOP have normal minds, but they’re trapped in this prison of an extra skeleton.
“The other very difficult part of FOP is that you don’t know when the next flare-up is going to occur, how long it’s going to last, how painful it’s going to feel and how disabling it’s going to be.”
By 40 or 50, he said, most patients succumb to a restrictive chest wall disease. He said that the extra skeleton severely limits lung capacity and, ultimately, the overworked heart starts to fail.
Floyd, who has chronicled her struggles on her blog, “One Spirit, Two Skeletons,” said she has been sharing her story to inspire others and raise awareness about her disease.
At 23, she said, she now stands a bit off-balance and walks with a limp.
When she travels – which she likes to do on her own to reclaim some independence – she has to use a wheelchair or a scooter to get around, she said. Sometimes, she said, her jaw gets tired and she gets tongue-tied.
She said her greatest fear is the unpredictable and unsparing progression.
“I could wake up and not be able to unbend my leg,” she said. “I’ve had it happen where my elbow will lock at a 90-degree angle.”
Floyd said her most sudden flare-up was when she lost mobility in her jaw.
“I had eaten dinner and later that night before bed and I had pain in my jaw. That was it,” she said. “It was painful – not just physically but also emotionally. It gradually locked throughout the next few months.”
But despite her fears, Floyd said, FOP has been a motivation.
“Even though I have fears, I do my best to make things happen so I can experience something,” she said. “My motto is to try to as much as I can for as long as I can and not let anything stop me from achieving.”