BOZEMAN, Mont. — A local family is looking into gene therapy to treat their 4-year-old who is living with the rare Hunter Syndrome.
The syndrome affects fewer than 500 young boys in the U.S., and many of them don't live past their teen years.
"He could continue on the path he's on now and keep going, or he could wake up tomorrow and not remember how to feed himself, forget how to walk and forget how to laugh, “ said Kristen Musick, the mother of 4-year-old Rowan.
Shortly after the family moved from Houston to Bozeman two years ago Rowan was diagnosed with the disease.
Musick said it was the most horrible thing they'd never heard of.
"It just turned us upside down -- completely," Musick said. "You never want to hear that your child has a terminal illness.”
The disease affects almost exclusively boys who are missing an enzyme that breaks down cellular waste, and when that waste builds up, it damages their bodies.
The physical symptoms are an enlarged head, enlarged forehead and claw-shaped hands to where they can't extend their fingers all the way. They can also have a bent spine and have similar learning disabilities like autistic children.
Besides the costly pharmaceutical bills and the disease’s rarity, Musick said the scariest thing is not knowing how the disease will manifest in Rowan.
According to Musick, they were fortunate enough to find help in Bozeman.
Rowan currently takes therapeutic swim classes at Eagle Mount to help with his upper body mobility. He has also been getting weekly infusions at the Bozeman Cancer Center for an enzyme replacement therapy done through a port in his chest. His mother said it helps keep him mobile.
But the Musick family is now betting on gene therapy.
"They have found a potential cure for this, but because it's such a rare disease it won't be funded by any drug companies because it doesn't reach enough people," she said.
The family is currently working with the nonprofit Project Alive to get Rowan signed up for the first clinical trial in Pittsburgh.
Musick told NBC Montana the gene therapy has the potential of helping Rowan and other boys with Hunter Syndrome generate their own missing enzyme.
"It gives these kids a chance at a full life," she said.