NSW baby Bohdi Higginson receives world-first epilepsy treatment

Consensus Summary

An eight-month-old baby named Bohdi Higginson from New South Wales became the first person in the world to receive a breakthrough precision medicine treatment for KCNT1-related catastrophic epilepsy, a rare and often-fatal genetic disorder. Bohdi began experiencing seizures at just three months old, with a worst day involving 74 seizures, and his condition rapidly deteriorated despite conventional treatments. Doctors at the Children’s Hospital at Westmead identified a genetic cause and administered an experimental treatment on April 21, after which Bohdi’s seizures stopped within three days. The treatment was developed through the Sydney Children’s Hospitals Network’s Innovative Therapies Pathway, offering hope for other children with rare conditions. Bohdi’s mother, Stephanie Higginson, described the transformation as life-changing, with Bohdi now smiling and returning home after months of severe seizures. The case highlights the potential of precision medicine to revolutionize care for ultra-rare diseases in New South Wales.