Fibrodysplasia ossificans progressiva

It sounds like a cross between a Greek myth and a horror movie. Instead, it's a rare affliction that turns muscle into bone and people into statues.

Fibrodysplasia ossificans progressiva strikes an estimated 1 in 2 million humans, and there are just 600 known cases in the world -- 25 of them in California, where a new center has opened in San Francisco to demystify FOP and help anyone who has it.

"It is the cruelest disease that I've encountered," said orthopedist Frederick Kaplan, an expert on FOP. "It imprisons people. It's like a molecular terrorist attack."

Some people with FOP are frozen forever into unwieldy positions - - U- shaped, arms folded, legs crossed, bent sideways. Others can't stand, while still others can't sit.

"Basically, I'm like a piece of wood," said 49-year-old Sandi Lee, who lives in the San Bernardino County town of Apple Valley and has spent 20 years in bed. "I don't bend from my head to my foot."

Once, to her dismay, she was mistaken for a mannequin.

Most FOP research -- which could benefit people with more common bone ailments, such as arthritis or osteoporosis -- is being done in Kaplan's lab at the University of Pennsylvania in Philadelphia. And now, in San Francisco, the world's second consultation center on FOP is taking shape.

Patients often die in 30s or 40s

The center was inspired by Dr. Joseph Kitterman, a neonatologist at the University of California at San Francisco.

"I happened into it by chance," said Kitterman, the center's 68- year-old founder. "Unhappy chance -- but that's the way it goes."

Five years ago, his step-grandson was diagnosed with FOP at age 17.

"I never heard of it until then," Kitterman said.

The disease is treacherous and unpredictable. Caused by a mutant gene, FOP gradually converts muscles, tendons, ligaments and other connective tissue into bone, fusing joints and making movement impossible.

It usually shows up in the first or second decade of life -- often in the form of nodules and tumorlike masses on the neck, back and head -- and works its way down the body, forming a second skeleton in much the same way an embryo develops.

FOP patients typically die in their 30s or 40s, sometimes choking or suffocating as rabid bone growth spreads through their chests or throats.

Kaplan estimates there are 3,000 total cases in the world. He's met 500 of the 600 people known to have FOP. They remind him of the unfinished sculptures in Michelangelo's "Captives," where "the body is trying to escape from the marble," or of Gregor Samsa, the young man in Franz Kafka's "The Metamorphosis" who wakes up one day and discovers he's a cockroach.

"It takes away so many of the things we all take for granted," said the 53-year-old Kaplan. "To get dressed, feed ourselves, even the ability to chew or tend to ourselves when we go to the bathroom."

50% chance of passing it to kids

University of California freshman Vincent Whelan, an 18-year-old from Fresno with FOP, recalled his first encounter with the disease.

"It was really scary," said Whelan, who was almost 9 at the time. "I was in my grandpa's pool, in the deep end. My legs hurt and I couldn't swim. I thought I was going to drown."

He developed a limp that has never gone away.

His parents suspected a pulled muscle. A pediatrician and an orthopedic surgeon were stumped. There were X-rays, MRIs and much speculation. Finally, a rheumatologist came up with the correct diagnosis: FOP.

"After the diagnosis, I felt a real sense of calm," said Vincent's mother, Carol Zapata-Whelan, 48. "Thank God, it's not muscle cancer, I thought. It was really the calm before the storm."

FOP is a thoroughly nondiscriminatory disease, in which race, gender, geography and ethnicity play no role at all. People with FOP seldom have children, but face a 50 percent chance of passing it on if they do.

Until a cure is found, those who have the disease face a life of "physical bondage," as Kaplan put it.

Scripps Howard News Service

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