Hutchinson-Gilford Progeria Syndrome, better known as progeria, is a highly rare genetic disease of premature aging. It takes a cruel toll: Children begin losing body fat and hair, develop the thin, tight skin typical of elderly people and suffer from hearing loss, bone problems, hardening of the arteries, stiff joints and failure to grow. They die at an average age of 14½, typically from heart disease resembling that of old age.
The children came from all over the world: 28 families from 16 countries, speaking over a dozen languages. They faced a grim prognosis: death at an average age of 13 from cardiovascular disease. Not the congenital heart defects we so commonly see in babies coming to Boston Children’s Hospital, but the kind of disease you might find in an 80-year-old: atherosclerosis, heart attacks, strokes.
The children represented three-quarters of the then-known world population with Hutchinson-Gilford Progeria Syndrome, or progeria—a rare, fatal genetic condition in which children seem to age prematurely. When they began arriving at the Clinical Translational Study Unit at Boston Children’s in 2007, most had already lost body fat and hair, had the thin, tight skin typical of elderly people, and were suffering from hearing loss, osteoporosis, hardening of the arteries, stiff joints and failure to grow.