A year after the worst day of her life, Debra Miller received a voicemail she couldn’t quite make out. In a thick accent, a man said something about research and left a phone number. She called but couldn’t get through. “I didn’t know what country code to put in,” she said.
Debra moved on, but the voice kept tumbling through her brain. She was desperate. Her first child, Hawken, had been diagnosed 13 months before with Duchenne muscular dystrophy. In blunt tones she would never forget, a doctor had told her that her 5-year-old boy would slowly lose the ability to walk and die by 18.
When she finally figured out the digits, a Dutch scientist explained he was launching a startup around one of the most counterintuitive ideas in modern genetics: that sometimes you can fix a broken gene by breaking it just a little bit more.
That strategy, known as exon skipping, would taunt Debra for two decades, always promising a therapy just out of reach. It prompted her to raise $1.3 million for the Dutch scientist and helped turn her fledgling advocacy group, CureDuchenne, into a powerhouse. Eventually, the idea spread far beyond the Netherlands and Debra’s home in Newport Beach, Calif., stirring tenuous hope for a life-altering treatment.
Exon-skipping drugs sparked a civil war within the Food and Drug Administration. Under pressure from advocates and companies, a top official overrode reviewers to approve the first of several candidates. One company, Sarepta Therapeutics, has since earned over $5.5 billion from from drugs that may or may not provide much benefit.
Throughout, by the fickle winds of scientific misfortune, mother and son remained waiting — until about two and a half years ago. That’s when Hawken enrolled in a clinical trial for a new exon-skipping drug Debra helped support. The results from him and 38 other patients have since stunned some of the field’s top experts.