NSW infant receives world's first precision therapy for deadly epilepsy

Bohdi Higginson, an eight-month-old from the NSW Central Coast, began experiencing frequent seizures at three months and was later diagnosed with KCNT1-related catastrophic epilepsy, a disorder with only 18 recorded Australian cases and no proven therapy. Pediatric neurologist Kavitha Kothur at Children’s Hospital at Westmead identified the genetic driver and, together with a multidisciplinary team, secured access to a novel drug that had only shown promise in animal studies.

The Sydney Children’s Hospitals Network’s innovative therapies pathway fast-tracked approval, and Bohdi received his first dose on April 21, with his final seizure occurring three days thereafter. Medical leads Michelle Lorentzos and David Harris highlighted the breakthrough as evidence that personalized treatment pathways can transform outcomes for rare diseases. Ongoing monitoring will determine the long-term safety and efficacy of the therapy, which could eventually be offered to other children with similar conditions.