Friday, July 1, 2011

Progeria: The little known "Benjamin Button" disease

Her name was Meg, 23, featherweight and feisty.

Standing 3 feet tall, Meg didn't look like her peers. Bald and skinny, her body was aging rapidly because she had a rare genetic disease called Hutchinson-Gilford progeria syndrome.

People with progeria wrinkle and develop the same circulation and joint ailments as the elderly -- except most of them die by age 13.

Progeria affects 200-250 children worldwide, but research into the disease could offer clues on cellular function and how it affects human aging and other age-related diseases.

This week, a study about a possible treatment was published in Science Translational Medicine. Dr. Francis Collins, director of the National Institutes of Health, is one of the authors.

About 30 years ago, Collins, then a young Yale University doctor, met Meg. He realized there was little he could do for his patient, but he couldn't look away.

"It was compelling to try to understand why someone's body is melting away in the ravages of age," he said. "You couldn't be involved without marveling at it and wanting to do something to understand the situation."

Collins offered his concern and compassion, but there was no treatment for her disease.

Despite her grave prospects and appearance, Meg did not shy away from the public eye. Instead, she became an outspoken advocate for disabled people in Milford, Connecticut.

Long before it became customary to do so, "She got that town to become friendly to the disabled," Collins said. "She made it happen."

Just because she was diminutive, it didn't mean people could step all over her. Meg could also "curse like a sailor" in her birdlike voice, he said.

Meg Casey died in 1985, but she never faded from the doctor's memory. (read more)