MANALAPAN, N.J. (CBSNewYork) — A young boy battling a rare disease may have found some hope in an experimental treatment.
Watching 7-year-old James Anthony Raffone run around his Manalapan yard, you would never know he was sick.
“He is the love of my life, just one happy boy and that’s my goal,” Karen Raffone told CBS2’s Meg Baker.
“He’s funny, cute, and sometimes annoying,” sister Julia said.
But James has a mutation of a disease called Duchenne muscular dystrophy. It’s so rare that only 21 others in the U.S. have it, all of them are young boys. James’ body is unable to produce a protein to repair muscle tissue.
“As muscle tissue declines and breaks down it is replaced by fibrotic tissue and fat that will eventually weaken everything and shut his body down,” Karen said.
“His first year of nursery school his teacher noticed that his motor skills were delayed, a little behind,” James’ father said.
There is no cure and James will likely be in a wheelchair by his early teens.
“It’s been a roller coaster ever since. It’s a devastating diagnosis to get, every mom’s worst nightmare for a doctor to say there is nothing we can do,” Karen said.
James sleeps in a hyperbaric chamber for 8-10 hours a night.
The experimental treatment the brave first grader is receiving has sparked a new research study at the University of Minnesota.
“We are pioneering some very hopeful therapy that we need help funding,” his father said.
Doctors have found the oxygen treatment that helps his tissue repair. James’ parents started the Jar of Hope organization to raise awareness and funds to give the boys a chance at life.