BISHOPVILLE, SC (WIS) - It's known as one of the most disabling genetic conditions in the world, but it's so rare many people have probably never heard of it. That was the case for a Midlands family whose child was diagnosed with what some refer to as "Stone Man Syndrome" shortly after his birth.
From the outside, Aidyn Prescott of Hartsville had all the hallmarks of a happy 10-month-old.
"He was the product of a normal delivery, did very well," Dr. Solomon Budhram of the Children's Group, P.C. in Hartsville said.
But shortly after his birth, Aidyn's mom, Javette McWilliams, realized something was off.
"I noticed a lump in his spine," Williams said. "It started from the bottom of his back."
Doctors ran tests and eventually performed a biopsy on what they thought was a tumor, but Javette would soon learn that was a mistake.
"I should have never let them cut on him, but we didn't know," Williams said. "It wasn't our fault, and it wasn't the doctors fault. We didn't know."
They didn't know that little Aidyn was born with a condition only one in every two million people share: Fibrodysplasis Ossificans Progressiva, known for short as F.O.P.
"Most clinicians are not aware of this. I was not," Dr. Budhram said. "If you read on it, usually the first words you'll see are catastrophic disorder."
Dr. Budhram says there are very few early signs of F.O.P., but the most common is often found on the foot. "Short big toe. Usually in this condition, and it's classic."
Researchers say F.O.P. is caused by a single-gene mutation that was discovered back in 2006. The mutation causes muscles, tendons, and ligaments to gradually be replaced by bone, creating what many refer to as an extra or double skeleton.
"He could be playing right now, and tomorrow he won't be able to use that left arm because his elbow is frozen," Dr. Budhram said.
Dr. Budhram adds F.O.P. is inherited, but there's often no family history.
"These kids are born normal, they develop in their mom's wombs normally. They form their normal skeleton," Dr. Budhram said. "The genetics of that gets shut off when you're born because there is no more skeleton to form. The problem with these kids is that that switch can get reactivated and any trauma causes an inflammatory response that turns that area into bone."
Which means Aidyn's early biopsy actually progressed his F.O.P.
"He's got extra bone that's over the scapula area here. The scar is here. Here's where it got worse and then it progressed," Dr. Budhram said, pointing to the affected areas on Aidyn's back.
And that progression has only continued. We recently checked back in with Aidyn months after our initial visit.
"He's had another bridge of bones actually cross from his shoulder blade to his arm," said Aidyn's mom, Javette.
But the now 17-month-old hasn't stopped smiling. He's also trying really hard to get around.
"He scoots instead of crawls, of course, so he uses his right arm to scoot across the floor," McWilliams said.
Aidyn's mom and grandmother say the worst part of his condition is the spontaneous painful swellings known as flare-ups, a side effect of F.O.P.
"You feel helpless because at this point being that he doesn't know how to talk, you don't know if he's actually in pain when he's crying or if he's just frustrated," Dolores McWilliams, Aidyn's grandmother, said.
And the worst part for them is watching this happy-go-lucky baby and not knowing what's next.
"It's heavy on my heart," Javette said. "Whether it's now or later I'm going to have to explain to him there's certain things, kids running up and down the street, he can't do that."
Doctors say the average life expectancy for someone with F.O.P is 40 years old, and currently there's no effective treatment or cure. However, Aidyn's family is holding onto hope that will change sooner rather than later.
"I'm hoping that one day they will find a cure, and I'm hoping that this will get out so more people will hear about it and know the signs and symptoms for their own family members," Dolores said. "Awareness is key."
Aidyn's family says they are trying their best to keep him in a bubble since any bump or bruise can possibly lead to additional bone formation. They add that's more difficult now because he's really trying hard to walk.
Dr. Budhram said while mobility for F.O.P. patients is gradually limited over time, their cognitive development is not. He adds many F.O.P. patients go to college and get degrees.
Researchers are actively working to find effective treatments to slow down the progression of F.O.P. and ultimately do hope to find a cure.
According to the International F.O.P. Association, the national non-profit supports research of this condition, there are currently 800 reported cases worldwide and only 285 in the United States. If you'd like more information on that organization visit www.ifopa.org.
Meanwhile, Javette McWilliams said much of the equipment needed to support Aidyn is not covered by insurance. If you'd like to help you can visit their GoFundMe page, www.gofundme.com/AidynMehki.