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

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.

Suchanek's diagnosis followed this pattern. He said he was born without problems until he got a lump on his head one day. His doctor thought it was cancer and had it removed -- which he still has the scar to show for it -- but the bumps returned within a couple months. His parents kept taking him to doctors thinking it was cancer but the symptoms weren't matching up, he said.

At one point, he was going to get chemotherapy -- which can cause toxic effects on the body, according to Kaplan -- but he got chickenpox one day before and had to call off the appointment.

"It ultimately saved my life," said Suchanek.

Then, his father, who would go to the bookstore every night to research his son's symptoms, came across FOP. He was taken to a geneticist by age 2, where he was diagnosed.

Joey Suchanek around age 8 Personal Photo

He said the flare-ups affected his growth and led to severe scoliosis, uneven hips and having his left leg shorter than the other. Some flare-ups he hasn't noticed, he said, while others can be painful for eight weeks until the bone stops growing. When he's had leg flare-ups, he's been unable to walk.

"The most painful part is the swelling, really intense swelling," he said. "It's really unpredictable," he said, adding doctors can't do much for him but give him estimates of how long it will last. "That's what makes it even more bizarre."

When he spoke to CBSNews.com, he was experiencing a hip and thigh flare-up that he said was extremely painful and required bed rest.

But that didn't stop him from answering Redditors. Suchanek would get questions that ranged from the curious -- such as whether his heart would turn to stone (it won't -- just the room around it may get constricted, he replied) to the downright vicious, from users who accused him of faking or asked why they should donate when only 800 people have the disease.

Why even respond to them?

"I wanted to show people that I can be very nice, but it doesn't (mean) that I won't fight back," said Suchanek. "It's like a bully. If someone stands up to him, maybe he will stop or think differently. It is worth a shot at least."

Suchanek is motivated to spread awareness through a Stop FOP Facebook page, a fundraising website, and awareness events arranged with Marist classmates, including a lacrosse game on April 20 and a campus Field Day on April 21. Proceeds from T-shirt and wristband sales and other donations will go directly to the International Fibrodysplasia Ossificans Progressiva Association (IFOPA) for research.

Grassroots campaigns like these can go a long way for treating a rare disease like FOP, according to Kaplan.

Eighty percent of funding for FOP research comes from fundraisers organized by families and physicians. One after another, Kaplan with gratitude mentioned names of people who organized family style barbecues which raise over $50,000 each year, bingo events, or a gas station owner -- Clark Crandall -- who donated a penny for every gallon his station sold. He raised over $150,000 for research, according to Kaplan.

Through these efforts, the researchers were able to discover the gene that caused FOP in 2006. They'd written books about the disease, but that one piece of information eluded them.

A couple of years earlier, a colleague had asked him if he had a magic lamp, what one piece of knowledge that can't be a treatment for FOP would he want. No doubt it was finding the genetic cause, Kaplan answered.

"It was a long, long struggle -- took 15 years," he said.

The discovery would create the window for researchers to make animal models with FOP, look at the downstream effects of the gene on the immune system, and potentially one day, pave the way for a cure. Trials remain ongoing.

The genetic discovery may also have far-reaching applications. For example, 15 percent of people with the common condition atherosclerosis -- a clogging of the arteries -- experience bone growth, according to Kaplan, and FOP's genetic root may explain why. Their research could also help veterans with combat injuries. When a person gets amputated, bone can form which makes rehab difficult. The ongoing studies could also provide more clues into the common bone-loss condition osteoporosis.

In part, that's why 20 percent of FOP funding comes from the National Institutes of Health. Some rare diseases aren't even researched at all because there's no funding, according to NORD.

"That's an example where funding for a rare disease can help us understand problems," Kaplan said.

But ultimately, his goal is "lessening the suffering and tragedy that people like Joey suffer."

Kaplan's met 95 percent of the 800 people diagnosed with FOP. Suchanek, who has seen the doctor a couple times, said his office has a picture of every person with FOP.

The doctor's involvement in the incurable disease began more than three decades earlier when training under an orthopedic surgeon because of interest in diseases like osteoporosis. During that time, a doctor asked him to see two very disabled adults with FOP. It affected him intellectually, and he wondered why this might occur.

It wasn't until 1988 when he met Dr. Michael Zasloff -- chief of the Human Genetics Branch at the NIH at the time -- that the disease would become his life's work. Zasloff asked about FOP, and Kaplan mentioned he had two patients with the disease. What followed was a four-hour conversation that he called one of the most interesting discussions he ever had. Zasloff wanted him to come work with him in a laboratory on FOP research, but Kaplan told him he had the wrong guy -- he wasn't a lab person.

"He said to me, 'You ever see a child who has this disease?'" Kaplan recalled. A patient was coming in from South Carolina the following week, so he came back and saw a little girl with the tell-tale swellings and had neck and posture problems.

"That had a profound, emotional effect on me," he said.

He compared the experience to going to the 9/11 memorial in New York City. People who visit can imagine that the worst terrorist attack occurred here, but they can't see it -- they're only intellectualizing what had happened. That's what he did with his two adult patients.

"Seeing that child that day was like seeing a plane fly into the building," said Kaplan. He knew if he didn't do something that child could end up disabled like the two adults he treated.

The next time Zasloff asked him if he'd research FOP with him, Kaplan told him he didn't think we even had a choice. They would go on to write 15 papers together.

Kaplan said his and Shore's lifetime goal is to be part of the work to develop the drugs and stop the disease from turning into a nightmare for people like Joey.

"It's been an honor to work with this community," he said.

The FOP community is a close group, according to Suchanek. They share advice through a Facebook group, where parents of young children with FOP talk about how to dress their child, arrange their bed, or what high school will be like.

"The only information people have is really each other," he said. "Doctors really can't tell you."

His life has not been without challenges. Suchanek told one Redditor that middle school and high school were "brutal" with him contemplating suicide, as kids didn't realize the pain their words could cause. People in college -- with some exceptions -- tend to be nicer, he said. Although he's always wanted to be a lacrosse player, Suchanek has realized over the years he physically can't do all the things he's wanted to do. But, he still gravitates to the sport, and is friends with members of the team.

One Reddit user asked him if he ever feared an early death.

"I fear that I will end it myself before I can see the real joys of life and I really want to be able to experience it all," he candidly replied. He then mentioned a list he's made of things he wants to experience, such as buying an expensive suit or going to the Super Bowl. Recently, he's been working on scratching off number 23 on the list by growing out and donating his hair.

But for now, he's devoting his efforts to the same goal shared by the researcher who has a picture of him in his office.

"I just want to get the word out and find a treatment," said Suchanek.

Rare Disease Day is Feb. 28, 2013. Find out more.

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