A New Gene Therapy, an Old Hard Truth

Medicine is so often about playing the odds. Give a 60-year-old a new hip and she might enjoy 20 more years of tennis, but give one to a frail 85-year-old and he’ll die on the operating table. A cabinet full of inhalers helps open the lungs of someone with emphysema, at the cost of swollen feet and bruised, shaky hands. If a two-year-old isn’t talking, her parents could start expensive behavioral intervention, or wait six months and see if she comes around.This is the calculus that doctors do, ideally aided by their own experience, their patient’s preferences, and the collective wisdom of the scientific literature.But what if there are no studies to turn to, no doctor’s intuition, no odds on which to base a rational decision? That’s the dilemma faced by some 350 million people who have a rare disease.Helene and Roger Karlin unwittingly joined that community 18 years ago when their infant daughter, Lindsay, was diagnosed with Canavan disease. She was born with a genetic fluke that would gradually damage the bundles of white matter in her brain.Read more at...Only Human, January 2013.