How a Rare Medical Condition Could Help Extend All of Our Lives

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A handful of girls seem to defy one of the biggest certainties in life: ageing. Virginia Hughes reports.

Richard Walker has been trying to conquer ageing since he was a 26-year-old free-loving hippie. It was the 1960s, an era marked by youth: Vietnam War protests, psychedelic drugs, sexual revolutions. The young Walker relished the culture of exultation, of joie de vivre, and yet was also acutely aware of its passing. He was haunted by the knowledge that ageing would eventually steal away his vitality that with each passing day his body was slightly less robust, slightly more decayed. One evening he went for a drive in his convertible and vowed that by his 40th birthday, he would find a cure for ageing.

Walker became a scientist to understand why he was mortal. "Certainly it wasn't due to original sin and punishment by God, as I was taught by nuns in catechism," he says. "No, it was the result of a biological process, and therefore is controlled by a mechanism that we can understand."

Medical science has already stretched the average human lifespan. Because of public health programmes and treatments for infectious diseases, the number of people over age 60 has doubled since 1980. By 2050, the over-60 set is expected to number 2 billion, or 22 per cent of the world's population. But this leads to a new problem: more people are living long enough to get chronic and degenerative conditions. Age is one of the strongest risk factors for heart disease, stroke, macular degeneration, dementia and cancer. For adults in high-income nations, that means age is the biggest risk factor for death.

A drug that slows ageing, even modestly, would be a blockbuster. Scientists have published several hundred theories of ageing (and counting), and have tied it to a wide variety of biological processes. But no one yet understands how to integrate all of this disparate information. Some researchers have slowed ageing and extended life in mice, flies and worms by tweaking certain genetic pathways. But it's unclear whether these manipulations would work in humans. And only a few age-related genes have been discovered in people, none of which is a prime suspect.

Walker, now 74, believes that the key to ending ageing may lie in a rare disease that doesn't even have a real name, "syndrome X". He has identified four girls with this condition, marked by what seems to be a permanent state of infancy, a dramatic developmental arrest. He suspects that the disease is caused by a glitch somewhere in the girls' DNA. His quest for immortality depends on finding it.

It's the end of another busy week and MaryMargret Williams is shuttling her brood home from school. She drives an enormous SUV, but her six children and their coats and bags and snacks manage to fill every inch. The three big kids are bouncing in the very back. Sophia, ten, with a mouth of new braces, is complaining about a boy-crazy friend. She sits next to Anthony, seven, and Aleena, five, who are glued to something on their mother's iPhone. The three little kids squirm in three car seats across the middle row. Myah, two, is mining a cherry slushy, and Luke, one, is pawing a bag of fresh crickets bought for the family gecko.

Finally there's Gabrielle, who's the smallest child, at just 12 pounds, and the second oldest, at nine years old. She has long, skinny legs and a long, skinny ponytail, both of which spill out over the edges of her car seat. While her siblings giggle and squeal, Gabby's dusty-blue eyes roll up towards the ceiling. By the calendar, she's almost an adolescent. But she has the buttery skin, tightly clenched fingers and hazy awareness of a newborn.

Back in 2004, when MaryMargret and her husband, John, went to the hospital to deliver Gabby, they had no idea anything was wrong. They knew from an ultrasound that she would have club feet, but so had their other daughter, Sophia, who was otherwise healthy. And because MaryMargret was a week early, they knew Gabby would be small, but not abnormally so. "So it was such a shock to us when she was born," MaryMargret says.

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How a Rare Medical Condition Could Help Extend All of Our Lives