“I’ve seen about a thousand patients worldwide with FOP,” says Fred Kaplan, a professor of orthopaedic molecular medicine in the Perelman School of Medicine. “Most of them are immobilized by the time they are 20. But this patient was not.”
Kaplan is arguably the world’s most prominent doctor treating FOP, fibrodysplasia ossificans progressiva, a condition that causes people, beginning at an extremely young age, to form a “second skeleton.” Starting as young as age 2, patients with FOP begin to have their muscles, tendons, and ligaments transform into bone, often due to minor injuries.
With ribbons, sheets, and plates of unwanted bone forming over time, joints all over the body lock up. As a result, most people with FOP are confined to a wheelchair by age 30. The lockups can make it difficult to talk or even breathe. Life expectancy is brief, with most not making it through their 50s, even in best-case scenarios.
Yet the patient, Andrew Davis, who Kaplan saw for the first time at 21, had none of this. He’d never experienced a “flare-up” of intense inflammation that is a hallmark of FOP. But Davis’ genetic information clearly shows that he has FOP. And something Kaplan and his colleagues found in that genetic information could also be the key to developing a treatment that keeps others from the grip of FOP.
“This is a unique person, a unique patient,” Kaplan said.
Read more at Penn Medicine News.
