Pennsylvania scientists have located the gene that triggers a rare skeletal disease, giving an 8-year-old Glen Burnie boy and his family hope that a cure may be found in the coming years.
Fibrodysplasia ossificans progressiva is a condition that turns muscle and other connective tissues into bone and immobilizes joints over time. Doctors think it affects about 2,500 people worldwide, though only about 500 cases have been confirmed.. Glen Burnie resident Wayne Gopshes is just one of three people in Maryland and 230 in the United States with the disease.
"Overall, I hope we get a cure, and that means getting my child's life back" Wayne's mother, Traci Gopshes, said Monday, less than a day after getting a phone call with the news. "He'll be able to do everything he can imagine."
The most common early symptom of FOP is a congenital malformation of the big toe. The condition is often mistaken for bunions and many families, like the Gopshes, opt for surgery to remove the growths, according to the International Fibrodysplasia Ossificans Progressiva Association.
Those with FOP suffer from painful fibrous nodules typically found on the neck, back and shoulders which eventually mature into bone, according to the IFOPA. Even small bruises can be troublesome.
Identifying the "skeleton key," the gene that causes FOP, has been the focus at the University of Pennsylvania's Center for
Research in FOP and Related Disorders for the past 15 years, said the center's co-director, Frederick S. Kaplan.
"We finally, after 300 years, know the genetic cause of FOP, a disease we've been desperately trying to fix," he said. "We don't have a cure, we don't even have a treatment, but we have the intimate knowledge we need to come up with that treatment and that cure."
The discovery is also important for others with more common skeletal conditions such as osteoporosis and bone cancer because this knowledge could help develop treatments for those diseases, he said.
For Wayne, the news means a better chance for a more normal life. Mrs. Gopshes said some of the effects of FOP may not be able to be reversed, but a treatment or cure in the coming years may be in time to stave off some maladies in the lower extremities that come around the onset of puberty.
Wayne, a first-grader at Woodside Elementary, already has had to give up riding two-wheel dirtbikes because a fall could cause bruises that eventually turn to bone. He learned of the breakthrough Sunday night from his mother, who received the news in a phone call.
Mrs. Gopshes tempered the good news with the reality that a cure may still be years away. Still, Wayne couldn't help but be optimistic Monday.
"I feel good," Wayne said. "I'll be able to do everything.
I won't have to worry about getting hurt."
Mrs. Gopshes said she is buoyed by Wayne's outlook.
"I don't think Wayne doubts there's going to be a cure," she said. "In his mind, he believes that they're going to make him better."
Wayne attended kindergarten at Glendale Elementary, but moved to Woodside this year so he could be in a smaller learning environment under the supervision of a school health aide. He takes part in all his classes, even gym, but he must be careful not to fall or get hurt when playing with the other kids.
"Wayne is just a great, great addition to our school," said Principal Janine Robinson. "We're so excited to have the potential for a cure for him. It brought tears to my eyes."
Zack Gopshes, 11, said he enjoys playing basketball or softball with Wayne, but he hopes things will be different in the future.
"I'm glad they found it because they're closer to a cure," he said. "Then if he falls, he won't get a bump, and he would actually be able to run and stuff."
Even with the risks, Mrs. Gopshes said she wants Wayne to live as normal a life as possible while he can.
"I will do whatever he wants if it's important to him," she said. "I don't want to mislead him, but I want him to be hopeful."
Wayne's most recent request is for a bicycle that looks like a dirt bike but has training wheels.
Mrs. Gopshes said she also hopes the news of this breakthrough will make people more aware of FOP.
"It's ironic that 600 people with FOP help to unlock the key to more common bone conditions," she said. "This gene will be used by scientists all over the world."