Rare disease therapies more feasible, but access remains limited

Will it work?

It was the question everyone around Susannah Rosen kept asking. Since infancy, she’d lived with a rare neurologic disease. She’d struggled to walk and talk, only to have the degenerative disease mostly rob her of those skills. Hardly a day passed without her suffering seizures, leaving her in need of constant care.

But in October 2022, Susannah’s family had reason to be hopeful. Scientists had developed a bespoke treatment for her, a snippet of genetic code targeting the gene at the heart of those symptoms. And a doctor had just injected this therapy into the 8-year-old’s spine. From there it would wend its way to her brain.