An 11-year-old boy who loves playing baseball will keep up with the game for as long as he can, even though his muscles are slowly turning into bone. There are only 800 documented cases worldwide, which comes to about one in every 2 million people and, on average, leaves a patient dependent on a wheelchair by the time they are 30.
Because it is so uncommon, it took several doctors and one of the world's leading experts in the matter, Doctor at the University of Pennsylvania, to pin down exactly what was wrong. The disease slowly turns soft tissue muscles, ligaments, joints and cartilage into bone, creating a second skeleton over the existing one.
Over time and as there is new bone growth, it severely limits mobility and eventually results in death. This happens when cartilage holding an individual's ribs together solidifies, making it difficult, if not impossible, to breathe.
It is caused by a genetic mutation in the ACVR1 gene, which is a part of the body's repair mechanism, according to the US National Library of Medicine. That means every time someone with the disease is injured or even gets sick, the part of their body that would go to repair it does so with bone instead of scar tissue.
'It can happen even when someone just gets a shot at the dentist,' Doctor. Doctors aren't sure what triggers the mutated gene, but so far there is no cure or treatment.The only thing a patient with the disease can do is avoid illness and injury, which could result in sped-up bone growth, and treat the pain.
However, Doctor said children only get one childhood, so even though they should be cognizant of their disease, they should not let it keep them from living their life. 'It's a catastrophic disease that robs children of their independence,' he explained. 'However, it's always astonishing to me that it doesn't impact a patient's mind or spirit.'
Doctor said this is the case with Caleb, who he described as 'amazing.'
'We all only get one life, we can't put that on hold. Caleb really embodies that, because while he's careful, he's out there and continuing to play baseball and be a kid,' he explained. 'We can't just live in a bubble.'
No one knows exactly how the disease will progress, as it is different in every individual with the condition. So each time Caleb hurts himself while playing baseball, the injury could accelerate new bone growth in that part of his body, making it harder for him to move.
'For most people, they are at least partially wheelchair bound by the time they turn 30, and the average median life span is 50,' Doctor said. Caleb was diagnosed with the disease when he was seven and his parents took him to the doctor after noticing that he was losing the ability to move his neck around.
They did some research, and found that, though rare, all of his symptoms pointed to FOP. Though they went to the doctors immediately, it took the family three years to have him successfully diagnosed. Initially, doctors believed he had a skeletal condition called Doctor File-Syndrome (KFS), which causes abnormal fusion of bones in the spine.
But then, Caleb started complaining to his parents about pain in his knees, and told his mom 'there's a bone on my knee,' Stephanie told CR-CO. That's when Doctor tested for the FOP genetic mutation, and after months of back and forth, the family got the positive diagnosis.
'We were devastated,' his mother told . 'Eventually it could take his mobility, it's the worst possible diagnosis.' Currently, Caleb suffers pain most days, but continues to play non-contact sports, like baseball. If he's injured at all, that could cause new bone growth and speed up his immobilization, but Stephanie told the Gazette: 'We want him to be able to play baseball while he can.'
Even now, he's had to give up playing catcher, which was his favorite position, and his mom said he sits out at least every other inning to keep him from tiring out, risking injury, or putting too much stress on his joints.
On July the year anniversary of his diagnosis, his parents organized a home run derby in his county, with all of the money going to help find a cure for FOP. Before the event even took place, it had raised close to $30,000. The event, which was a Home Run Derby and Skills competition, was the first of what his parents hope to be an annual Bombers for Bones event.