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Monday, 4 June 2012

Ali McKean Stone

Ali McKean Stone - A five-year-old Ohio girl is in a desperate race for a cure to an extremely rare disorder that is fusing her body's muscles and joints into solid bone. Ali McKean Stone, Ali McKean of Bellevue suffers from Fibrodysplasia ossificans progressiva (FOP), or Stone Man Syndrome, a genetic disorder that claims one in two million by slowly hardening their body until they can no longer move.

'Her muscles and connective tissues are turning into bone,' Ali's mother Angela McKean recently told WNWO while holding her daughter who frequently smiled and squirmed on her lap.

'It will eventually, if no cure or treatment is found, it will inhibit all of her mobility. Basically she's freezing into a statue,' she said.

Out of an estimated 700 confirmed cases in the world, 2,500 have gone undiagnosed, reports FOP Action.

Most undiagnosed victims' condition will speed up with the unknowing trigger of bumps and bruises even surgery that hastens its process.

Surgery to remove the excess bone has shown to cause stronger bone to grow back in the area, as a kind of malignant healing, according to the American Academy of Orthopaedic Surgeons.

'Unfortunately, it took five years to get her diagnosed because a lot of doctors don't know about it,' said Ali's mother. 'So all of the procedures that they did to try to diagnose her just made it worse.'

Today Ali's parents say their daughter, the youngest of three, manages to keep a smile on her face and doesn't complain about her pain and discomfort.

But at five-years-old, she's not able to run and play like a normal girl, for fear of falling and exacerbating the bone growth.

'It's extremely frustrating because as a dad, daddies are supposed to fix everything, be able to protect their kids. How do you protect your child from themselves?' her father Gabe told WNWO.

Her parents are now on a mission to raise awareness and funding for their daughter's medical needs and a potential cure through their website,

'Right now there's really nothing that we can do but raise awareness and you know, hopefully, the doctors will see this. They'll research it and they'll know it's so easy to diagnose,' her mother said.

Not restricted by race, ethnicity or gender, today at least 285 known FOP cases are in the U.S. with 45 in the U.K.

Ali's parents say it was her big toe, born bent toward her others that could have immediately given her condition away to doctors had they been informed of FOP.

Other symptoms include flare-ups after bodily trauma, which includes viral illnesses.

During those flare-ups that cause prolonged discomfort new bone is being generated.

Doctors report that this can happen even without bodily trauma, though they are unsure why it will appear dormant or quiet at other times more than others.

The condition today is said to not improve but instead get worse as a person ages.

The most famous case is of Harry Eastlack who before his death in 1973 donated his skeleton in hopes it could help find a cure.

Left only able to move his lips, he died six days before his 40th birthday.

His bent skeleton, fused together requiring little assistance for its display - opposed to other skeletons which require ligaments and joints - is on display at the Mutter Museum in Philadelphia. Harry Eastlack,

As of Thursday, Ali's family have raised a reported $160 through their website.

A yard sale fundraiser within her community last weekend generated $3,000 giving the family further hope, however.

'Ali is 1 in 2 million, support the 1. Never underestimate the power of 1. You are 1. You can help make a difference,' her mother wrote on the site.

Currently 90 per cent of all funding for FOP research is independently raised by 12 to 15 families around the world, the American Academy of Orthopaedic Surgeons report.