Progeria research gives hope to Hamilton teen

It's being hailed as a scientific advancement in an otherwise mysterious illness, and a Hamilton teen is a part of it.

Devin Scullion was one of 26 participants in drug trial for rare disease

Jamie Madley and her son Devin Scullion are heartened by new advancements in progeria research. (Samantha Craggs/CBC)

It's being hailed as a scientific advancement in an otherwise mysterious illness, and a Hamilton teen is a part of it.

Devin Scullion, a 16-year-old Mountain resident, is part of a more than two-year drug trial proven to alleviate some of the symptoms of progeria, a disease that causes rapid aging in children.

When Devin was born, doctors told his mom Jamie Madley to essentially "take him home and enjoy him while he's here." So the advancements are a ray of hope for the family.

"It's encouraging to see him as healthy as he is," Madley said. "I believe without this trial, he wouldn't be here."

Madley first noticed a difference in Devin in August 1996, when he was born two months premature and still weighed more than four pounds. He also looked different from other babies in the nursery.

In some respects, he advanced quickly. He gained weight like an ordinary baby. When he was four months old, he could hold onto her fingers and walk.

Rare disease

Then came the diagnosis. Madley still remembers how old he was - "four months, three weeks, two days."

Progeria is so rare that only about 200 children in the world have it. There are only two in Canada, Madley said.

It causes decreased muscle and bone density and makes children prone to heart attack and stroke, which is how most of them die.

Because of its rarity, little was known about the disease in 1999, when the Progeria Research Foundation was formed, said Dr. Leslie Gordon, the foundation's founder and medical director.

"There was nothing out there - no research, no resources, no place to go," Gordon said. "There was absolutely no prospect of treatment and no understanding of what the disease was."

Reduces hardening of arteries

Because of this, Madley and Devin were happy to take part in the drug trial at Boston Children's Hospital.

"We were excited," Madley said. "Whether or not it worked, somebody was doing something."

Progeria causes a loss of body and bone mass. Children with progeria usually die from heart attack or stroke.

While the drug has not caused the weight gain researchers hoped, it has reversed the hardening of arteries by 35 per cent.

Ordinarily, a child with progeria may have vascular stiffening like that of an 80 or 90-year old.

"This brings it down to what a 40-year-old's would be," Gordon said.

Originally a cancer drug

The drug, Lonafarnib, was originally developed to treat pediatric brain cancer. But it proved ineffective, said Dr. Mark Kieran, director of pediatric medical neuro-oncology at Boston Children's Hospital and Dana Farber Cancer Institute.

The current trial, which involves about 26 kids with progeria, involves taking two pills a day for the last two and a half years.

There are some side effects, such as nausea and diarrhea. But the benefits have been worth it, Devin said. His weight has increased from 24 to 31 pounds, and "I feel a lot healthier."

Two more trials are about to start, one that combines three drugs and another that combines four. Money for the research is fundraised through campaigns. That includes everything from road races to online donations, Gordon said.

"There are a lot of supporters out there willing to get behind these kids."

Biological clock

There is reason for the world at large to pay attention to progeria research, Kieran said. Researchers have discovered that everyone creates a small amount of perogeron, which "stays in our cells and tells us how old we are.

"What is the biologic clock that tells your cells when it's time to stop living?" he said. "Many people believe progeron may be a part of that."

Progeria aside, Devin is "a normal 16-year-old," Madley said. He attends Cardinal Newman high school. He collects model airplanes and likes to play video games.

This advancement "is nothing short of a miracle," Madley said. "It's amazing how far we've come in 12 years."

The results of the study were published this week in the journal Proceedings of the National Academy of Sciences.