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Stop FOP: Student raises awareness for incurable disease that turns his muscle to bone

Joey Suchanek, 20, of Poughkeepsie, N.Y., is shown in this undated personal photo. Suchanek is raising awareness for a disease he shares with only about 800 people in the world, FOP.
Personal Photo

Twenty-year-old Joey Suchanek and researcher Dr. Frederick Kaplan share the same goal -- stopping FOP.

Suchanek, a student at Marist College in Poughkeepsie, N.Y., has fibrodysplasia ossificans progressive (FOP), a rare and incurable disease that causes connective tissues in the body to turn into bone.

Only about 800 people worldwide have been identified with the condition.

Suchanek had become the face of awareness campaigns at his school to raise money for research. To get more attention for the cause, he decided to bare himself to the Internet masses with a deeply personal Ask Me Anything (AMA) post on social news giant Reddit:

"My name is Joseph Suchanek and I have an extremely rare disease that only 800 people in the world have called Fibrodysplasia Ossificans Progressiva or FOP or "Stone Man's Disease" where my muscles and tendons turn into bone. AMA."

"I am a 20 years old college student that proudly attends Marist College. My left arm is frozen in a 90 degree angle and confined to my side. My right arm is also in a 90 degree angle, but I am able to fold it to reach my face and feed myself. I am unable though to stretch my arms out. When I was younger, bones grew near the ribs locking them into place. As i grew older, it caused to me to get severe scoliosis."

He added pictures for proof, and a slew of questions ensued. For two days, Suchanek responded to nearly every query he received, and by 4:00 a.m. one night, enough users had "upvoted" his AMA to Reddit's front page, where hundreds of thousands of visitors could see it.

"I knew what I was getting into," the 20-year-old told CBSNews.com. "I tried to respond to every single one of them. That's always been my motto, take care of everyone."

FOP is an ultra-rare disease that affects about one in two million people, explained Dr. Frederick S. Kaplan, chief of the division of molecular orthopedic medicine at the University of Pennsylvania School of Medicine in Philadelphia.

He and Dr. Eileen Shore, also of the University of Pennsylvania, are considered the top experts in the world on the disease. They co-directs the only center in the world devoted entirely to FOP. They are featured in the Rare Disease Research Hall of Fame , which was part of Rare Disease Day USA on Feb. 28.

FOP is a "catastrophic sabotage of the body's skeletal system," Kaplan told CBSNews.com.

He said that 100 percent of people with FOP are born with a malformation in the big toe that almost looks like a bunion. Interestingly, that toe is the last thing to grow in an embryo, he added. Newborns typically show no other problems, but by infancy, parents may suspect there's a problem if their child appears stiff or doesn't crawl.

Around ages 2 through 5, painful swelling that looks like lumps or tumors may suddenly appear. What's actually happening is an immune system response that attacks the skeletal muscle, tendons and ligaments, eventually destroying the tissue, according to Kaplan. That's the beginning of what's called a flare-up. Instead of scar tissue forming from this destruction of muscle, something in the immune system triggers the formation of new pluripotent stem cells, which link up with nearby cartilage, turning the cells into bone instead of new muscle.

"It's almost as if with FOP, the body is giving the wrong signal," he explained.

Sometimes steroid medications like prednisone given within the first 12 hours of flare-up may slow it down or make it go away, according to Kaplan, but it's no guarantee, and many flare-ups are not amenable to these drugs.

These flare-ups, which can be very painful depending on the location of the bone growth, can be caused by an injury -- like bumps or bruises -- or a trigger that activates the immune system. Even childhood immunizations can cause flare-ups, or an injection during a trip to the dentist could lead to bone growth that locks the jaw permanently.

That's problematic because FOP is so rare and many doctors have never seen it. They may misdiagnosis the growths as cancer and order a biopsy or chemotherapy. Some doctors may try to remove the extra mass or bone through surgery. But, Kaplan explained that these invasive procedures just lead to more painful bone growth.

"It's truly, truly, truly catastrophic," he emphasized.