Gabriel Oppenheim: Raising the efforts to find a cure

You're a little kid. And like all little kids, you see your bed as more than a place to sleep: You see it as a trampoline. A cushioned launch pad from which to leap toward the sky. So you leap, of course. And if you land on target, pillowed and blanketed, there's no problem. And hey, even if you miss, what's the worst that can happen? Your body takes the bruise, and you move on.

It's never been that way for Ian Cali, a 16-year-old sophomore at Newark Academy in New Jersey. When he was younger, he also liked hopping on his bed. And one time, he missed the landing just a bit, and his jaw took a shot. And his body responded to the blow, sending its forces, so to speak, to heal the area.

But for Ian Cali, that was just the problem -- his body responds almost too well to exterior pressure. And when he takes even the slightest hit, his muscles and tissues and tendons turn to bone, forming a second skeleton inside the first, locking his joints until he can't move.

So Ian Cali remembers the time he took a spill on the bed because his jaw moves only eight millimeters now. "Which isn't a lot," he said, "but it's the difference between being able to eat myself and being fed."

The game of millimeters marks the life of anyone with fibrodysplasia ossificans progressiva. It sounds like a complicated disease, but really, the name says it all. Those with FOP have bodies whose fibrous tissues progressively ossify, or turn into bone. And while exterior trauma can accelerate the process, ossification eventually occurs no matter what, freezing the body in a random pose, often by a person's mid-20s. No cure has been found yet, and the average patient lives 45 years.

If the disease sounds cruel, its treatment can be worse. FOP first shows itself in the form of lumps around a child's body. These lumps can appear to doctors to be cancerous lesions, even though they're actually small formations of new bone. Unfortunately, when confronted with such lumps, many doctors order biopsies, which only speed up bone growth in FOP patients.

In fact, 87 percent of patients with FOP are initially misdiagnosed, according to a study in the November 2005 issue of Pediatrics. On average, it takes four years for someone with FOP to get an accurate diagnosis.

Doctors don't recognize FOP because it's so rare, occurring through genetic mutation in one of every two million births. Currently only 2,500 people in the world are estimated to have the disease. And that, I'm proud to say, is where Penn comes into the picture.

Because out of those 2,500 estimated cases, only 600 have been diagnosed. And almost every single patient of those 600 has been seen and cared for by Dr. Frederick Kaplan, a professor of molecular orthopedics at Penn. Indeed, Penn hosts the world's largest laboratory dedicated to the study and treatment of FOP.

And just last month that lab made a stunning announcement: They had found the gene whose mutation causes FOP, the first breakthrough on the path to a cure. So Dr. Kaplan, along with his 15-year partner Dr. Eileen Shore, held a press conference on Penn's campus, inviting patients to attend.

"People were crying out of happiness, and I was just standing there, with a blank look on my face, just in awe of the whole thing," said Cali, whose 19-year-old brother attends Penn. "And my mom leaned over and asked, 'Are you alright?' And I said, 'Yeah, I'm just too happy to cry.'"

Ian Cali understood: The gene, what Dr. Kaplan calls "the skeleton key," holds the secret to a cure. And not just to FOP but potentially to several bone-related disorders, including osteoporosis, if doctors can harness the gene to produce bone when and where they need it.

But in order to do that, Dr. Kaplan's lab will need more research money. And currently, it receives very little -- a bit more than $1 million annually. And the government, through the National Institutes of Health, contributes only one-fourth of that funding. The rest comes from small fundraisers run by patients and their communities.

Ian Cali's friends in Mountain Lakes, N.J., raise $18,000 to $20,000 every year through a garage sale. A group in Scotland held a barn dance to raise funds. A gas station owner in Santa Maria, Calif., donated a penny for every gallon of gas sold for six straight years, raising $177,000.

But it's not enough. The government and philanthropists will have to get behind the FOP cause and fund further research for a cure. Barn dances and gas stations can't do it all, and Dr. Kaplan is ready to move forward. To a day when every kid can take at least one bedtime tumble and forget about it the next day.

Guest columnist Gabriel Oppenheim is a College sophomore from Scarsdale, N.Y.

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