Leslie Gordon and her husband, Scott Berns, could not figure out what was ailing their infant son, even though they were both pediatricians. The baby was failing to gain weight as he should, had cut no teeth and was losing his hair.
The diagnosis, when it came in the summer of 1998, was devastating: Sam had progeria, a rare genetic condition that resembles the aging process sped up. Gordon had never heard of it. She and Berns dropped everything and set about trying to learn more.
The news over the next week was bleak. Although progeria is a mysterious illness, some facts about it are undisputed. There was no cure and no treatment. Their son would get sicker and sicker, and there was nothing they could do. The average age at which children with progeria died was 13.
There weren’t even any drugs in the pipeline. There was almost no research going on, says Gordon. “There was no funding. There was no central resource for families. It seemed like a huge void of nothing.”
In one way that’s unsurprising: Only 80 children in the world are known to have progeria. But the science void was something that Gordon could tackle. She quit her pediatrics residency to set up the Progeria Research Foundation, with the goals of finding a cure and providing support for affected families.
Gordon’s team and other researchers in this field have one mantra: Understanding progeria won’t only help a few children and their families. It will also help unlock the secrets of the aging process we all experience.
New evidence suggests they are at least partly right. Progeria does have parallels with normal aging, at least in one key aspect: how blood vessels deteriorate. And aging blood vessels lead to two of the major causes of death, heart disease and stroke. “We have not had a brand-new avenue for studying aging and cardiovascular disease in some time,” Gordon says. “Progeria gives that.”
‘A stab in the dark’?
Progeria was first described in 1886 by the British doctor Jonathan Hutchinson and then in 1897 by his countryman Hastings Gilford. (The full name of the best-known form is Hutchinson-Gilford progeria syndrome. That’s what Sam Gordon has.)
Children with progeria develop normally for the first year, but then their growth begins to slow. Soon they develop problems that are usually limited to elderly people. Their bones weaken, their joints stiffen and they may get dislocated hips. Their skin becomes less elastic and creases into wrinkles. They often lose their hair.
Like many old people, children with progeria tend to die from a heart attack or stroke. The walls of their blood vessels thicken and stiffen, and can accumulate cholesterol-laden plaques and calcium, a direct cause of high blood pressure and heart disease.
Children with progeria do not get dementia or memory loss, nor are they more prone to cancer, the other main disease of aging. That apart, progeria resembles aging gone into hyperdrive. So the question has always been: Is progeria relevant to what happens to us as we get older, or is it just masquerading as aging?
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