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By Samantha Craggs, CBC News
Posted: Dec 19, 2012 5:46 PM ET
Last Updated: Dec 19, 2012 5:45 PM ET
It will be a bright Christmas for Devin Scullion and his family now that the Hamilton 16-year-old, who is living with a rare disease that causes rapid aging, has a healthier heart thanks to his involvement in a U.S. drug trial.
"I think my mom is feeling proud, and I'm feeling amazing," said Scullion, one of only two children in Canada with progeria.
Most children with the disease die by their teens, often from heart attack or stroke.
But thanks to the ongoing drug trial, Scullion, of Hamilton Mountain, seems to be avoiding that fate.
Since the trial started 2½ years ago, his heart has gone from resembling that of an elderly person to being the healthy heart of a 16-year-old boy. His bones, his weight and even his hearing have also improved.
"Words can't really describe it, but I feel happy," he said.
Mom Jamie Madley said he is "improving every day. He's more energetic. He's healthier. There's more colour in his face.
"We were just hoping for improvement, but he's gone above and beyond."
Drug finding 'gives us hope,' doctor says
Scullion is taking Lonafarnib, originally developed to treat pediatric brain cancer. It proved ineffective for that purpose, but was found to lessen the impact of progeria.
The current drug trial through Boston Children's Hospital involves 28 children taking two pills a day.
Trial participants are noticing several health benefits, said Dr. Leslie Gordon, founder and director of the Progeria Research Foundation.
"It's a finding that gives us hope that something good could be happening here," she said.
The results have implications for everyone.
The progerin protein that affects Scullion and other children with progeria exists in all of us, Gordon said.
Learning more about how it works can tell us more about what causes heart disease in everyone, she said.
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