How Rare Disease Patients Are Rewriting The Rules Of Medicine

TL;DR

Families of rare disease children are bypassing traditional medicine by funding research, lobbying legislation, and pioneering personalized gene therapies to save their kids.

Key Points

• 1.CNBC anchors Becky Quick and Matt Quail went public about their daughter Kaylie's SYNGAP1 diagnosis after nine years of silence. SYNGAP1 causes autism, seizures, developmental delays, and intellectual disability; sharing their story is part of a media initiative called CNBC Cures.
• 2.Florida's Sunshine Genetics Act, championed by legislator Adam Anderson after losing his son Drew to Tay-Sachs at age four, offers free whole-genome sequencing to newborns. A New York Presbyterian study found 3.2% of babies — over 100,000 annually — are born with clinically actionable conditions that early screening could address.
• 3.KJ Muldoon became a landmark case when doctors developed a custom CRISPR-based gene therapy for his CPS1 metabolic disorder in just six months, from initial conversation in October to first infusion in February. The unprecedented speed and accelerated regulatory approval made medical history; today KJ is thriving and has begun walking.
• 4.Rich Horgan founded a nonprofit biotech to create a personalized gene therapy for his brother Terry, who had an ultra-rare form of Duchenne muscular dystrophy, but Terry died days after the clinical trial in 2022. Terry said in messages read after his death that he participated not for himself but for future patients; Horgan's work now targets tens of thousands of patients.
• 5.n-lorem, founded by Dr. Stanley Crooke, designs free antisense oligonucleotide (ASO) therapies for diseases affecting 30 or fewer people, costing roughly $1.2 million per life. Eleven-year-old Susannah Rosen, who has a nano-rare KIF1A mutation affecting only a few dozen patients worldwide, has seen pain relief after three years of treatment, though her regression continues.
• 6.Beast Games winner Jeffrey Allen plans to use his $10 million prize and public platform to fund research into creatine transporter deficiency, which affects his son Lucas and only an estimated 500 known cases worldwide. John Crowley's earlier story parallels this — he left his career, founded Novazyme, sold it to Genzyme for over $100 million, and helped develop an enzyme therapy that turned Pompe disease from a death sentence into a survivable condition.