'Vanishing bone disease' has no cure
Posted September 28, 2010 5:31 p.m. EDT
Updated September 28, 2010 6:26 p.m. EDT
Los Angeles — She's painfully thin and moves with the stiffness of someone whose neck has been fused to her spine, but Laurie Harms is grateful to be alive.
"There are moments that I can't imagine not having been here," the 31-year-old said.
Harms has an incurable rare disease called Gorham-Stout Syndrome. Only about 200 cases have been documented worldwide.
"It's otherwise known as 'vanishing bone disease,' and it does exactly that," Harms said. "My bones have basically vanished in my neck and my skull."
Her symptoms started in her teens, but even on her wedding day, she still looked healthy.
After the birth of her daughter, Sky, the bones in her neck deteriorated, so that she could not hold up her head.
"I had a (tracheotomy). I couldn't talk," Harms said. "I was a paraplegic, basically. I couldn't move my arms."
After being rushed to a hospital in Los Angeles, doctors basically gave up. Harms would go home with a broken neck and her tracheotomy.
She might have died if a spinal surgeon had not stepped in.
"She was resigned to deteriorating and dying," spinal surgeon Dr. Frank Acosta said.
Instead, Acosta rebuilt her neck and spine.
"Her short-term future – I think, I'm cautiously optimistic," Acosta said.
Since most people with Gorham-Stout live only into their 20s, Harms' long-term future is uncertain.
But Harms and her family remain optimistic.
"When she came out of her first surgery, they gave her two years to live," her husband, Ryon Harms, said. "Now it's been almost eight years."