Aggregated News
Photo by Nathan Dumlao on Unsplash
Elizabeth Wraige remembers the first time she delivered the diagnosis. “Parents feel as if they’ve been hit by a sledgehammer,” she says. Her patient, a baby boy, had been born tiny and perfect to overjoyed parents six months earlier. But they had begun to feel something was not right. He seemed floppy and was not moving normally. Tests showed he had spinal muscular atrophy (SMA), the most deadly genetic condition in children under two, in which a deficit of a crucial protein causes motor neurons to die, and the body slowly loses the ability to move. Babies with untreated type 1 SMA, the most severe form, will never sit, crawl or speak and are slowly robbed of the ability to move, swallow and breathe. Most die before they are two.
“In that conversation, any hope that it was something that could be remedied was taken away,” says Wraige, a paediatric neurologist at Evelina London children’s hospital. “It was devastation.” She could offer only one shred of consolation: SMA, an incurable condition...