He’s a 3-year-old boy who enjoys the things every kid his age loves — riding his bike and scooter, playing football in the front yard with his dad, wrapping his arms around his parents to share a hug.
And Josh Scoble’s parents let him do all those things — even though they know that any bump or bruise he suffers can bring him closer to the inevitable day when he is imprisoned by his own body, his flesh literally turned to bone, his arms and legs and head and even his jaw locked in immobility.
“Eventually it will take over his entire body and he won’t be able to move,” Josh’s mom, Stacy Scoble, said in a heartrending report that aired on TODAY Thursday.
Rare but deadly
Josh has an extremely rare genetic condition called fibrodysplasia ossificans progressiva, or FOP. There are only about 700 confirmed cases worldwide — about one in every 2 million births. The condition, which causes bone to form from soft tissue, ultimately confines its victims to permanent immobility before taking their lives, usually by the victims’ 40s.
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“Every little bump, every surgery leads to this change in the tissue where it really becomes bone,” Dr. Nancy Snyderman, NBC’s chief medical editor, told TODAY’s Ann Curry as Josh snuggled against his mom in the show’s New York studio. “The concern is that your body can become frozen with bone.”
Although aware of the dangers from bumps and bruises, Josh’s dad, Dave Scoble, told NBC News that he allows the boy to play and be as normal as possible while he can still move around.
“As much time as he has left, I want him to know joy,” Dave Scoble said. “I’d rather have him look back and say, ‘I had fun,’ rather than ‘My parents didn’t let me do anything.’ ”
A bad mistake
Stacy Scoble and her husband, Dave, knew something was wrong as soon as Josh was born. His big toes were deformed and he had hearing problems. These are symptoms of FOP — but the condition is so rare that his pediatricians didn’t immediately recognize them.
At about 3 weeks of age, Josh developed a fever and doctors performed a spinal tap to rule out sepsis. The spinal tap caused a tumor to form. Fearing it was cancerous, doctors opened up his back to perform a biopsy.
Since then, Josh’s body has slowly continued to turn against him. He can still run and play, but he has trouble lifting his arms and recently he has begun to have difficulty moving his neck.
“It’s very difficult to know he might not be able to move completely,” Stacy Scoble told Curry. “It’s hard for him to reach his arms up. His entire back is fused.”
Tired from having gotten up so early to be on the show, Josh yawned and lazed against his mom, behavior that his dad said was unusual.
While the Scobles try to get as much out of every day with Josh as possible, they are also working to raise awareness about FOB. For the past two years, they’ve held an annual bingo fundraiser that has brought in $100,000 for research, almost all of which is taking place at the University of Pennsylvania.
But it’s a race against time for Josh and others like him. “It’s going to take time to develop those very specific and very safe treatments that we can bring to Joshua and other children around the world,” Dr. Frederick Kaplan, who heads the university’s FOP program, told NBC News.
“Josh is an amazing young man, given all the stuff he’s had to go through, most of which is pain that I don’t think any of us can probably understand,” Rice said.
As for the Scobles, not knowing what the future holds, they are are cherishing every moment with their son.
“He’s getting to the point where it’s hard for him to get his arms around our neck to give us a hug,” his mom said.
For more information about Josh and how you can donate to efforts to find a cure for FOP, the disease that is turning his muscles to bone, visit BingoForACure.com.
© 2013 NBCNews.com Reprints