A 22-year-old eastern Ontario man is bed-ridden and fighting for his life against a rare genetic disorder that was not diagnosed nor could be treated in Canada.

Charlie Smith of Athens, Ont., has Ehlers-Danlos syndrome, or EDS, a degenerative disease that deforms the body's connective tissues and causes chronic pain.

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The family, Charlie Smith, his mother Christine and his sister Jessica Covey, all suffer from EDS but Charlie's case is more severe. (CBC)

The syndrome causes mutation of the body by creating a defect in the synthesis of collagen, which helps tissues reject deformations.

Smith's sister, Jessica Covey, and his mother also have the disease but his case is severe. In January, he started losing consciousness, having seizures and now he cannot stand or walk, said his mother, Christine Smith.

"He's 22 years old. He should be doing things that other 22-year-old boys are doing," his mother said, while fighting off tears. "He should be dating and going to movies."

Smith's neck tissue is especially weak, which is why he now wears a neck brace 24 hours a day.

'I'm hoping to be back on my feet in no time.' —Charlie Smith

"It's essentially an extreme hyper-mobility of his skull on top of his spine and it's causing his head to slide forward and compress his brain stem on his vertebrae," said his sister, who also wears a neck brace to help support her neck and head.

No diagnosis or treatment in Ontario

No Ontario surgeon is willing to treat EDS, according to the family, because it is "too complicated."

None could even diagnose the type of EDS Smith has due ot his cranio-cervical instability, the family added.

So an EDS support group helped point the family to a specialist in Maryland that can help make Smith's neck and head stronger through surgery.

But provincial health insurance is not willing to cover the procedure, the family said, nor the costs of travelling south of the border, which the family estimates will cost about $60,000.

That is money they do not have.

They are trying to raise at least $35,000 to help cover the costs and they have raised almost $10,000 as of Sunday.

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Christine Smith, who also suffers from Ehlers-Danlos syndrome, says she is heartbroken when seeing her son bed-ridden. (CBC)

"We've met with doctors who won't even consider the expert's opinion to the point that we can't even apply to OHIP for out of country coverage," Jessica Covey said.

But people in nearby Brockville, Ont., are now fundraising to help the family. They continue to raise money for Charlie Smith, who is scheduled to have surgery at the end of November.

Smith's family has a video of him dancing last year. It was his favourite thing to do, Christine Smith told CBC News, before his illness left him bed-ridden.

When asked about dancing while lying in his bed, Charlie Smith said, "I'm hoping to be back up on my feet in no time."

Corrections

  • An earlier version of this story stated the family was seeking $90,000 to help them cover the surgery costs. The surgery costs $60,000 and the family is looking for at least $35,000 of help.
    Oct 04, 2013 1:36 AM ET