NPR · 17 hours ago

Sanfilippo Gene Therapy Got Early Support From Affected Families

When Eliza O'Neill was diagnosed at age 6 with Sanfilippo syndrome - a rare, fatal disease that slowly erases a child's ability to speak, walk, and live - her parents didn't wait for someone else to act. Her father, Glenn, reached out "on a whim to some strangers on the internet," and the viral video they made together raised two million dollars, helping fund the first human trial of a gene therapy that a lone researcher had nearly abandoned years earlier for lack of funding. That therapy, kept alive through the years by patient families who told the scientist simply, "You can't leave," was approved by the FDA in September 2024. Eliza, now almost 17, never regained her speech, but she goes to school, swims, and learned to float on a pool noodle this past summer - and her father says quietly, "I just feel proud of my girl." The story of Fayuvi's approval is also the story of what happens when grief refuses to stay private: when ordinary people decide that love, directed outward with enough urgency, can move science itself.