An eight‑month‑old baby from the NSW Central Coast has made global medical history, becoming the first person in the world to receive a precision‑medicine treatment for KCNT1‑related catastrophic epilepsy, a rare and often fatal genetic disorder. Please confirm all medical information with a trusted source.
Bohdi Higginson began experiencing seizures at just three months old, and his condition deteriorated rapidly. His mother, Stephanie Higginson, said Bohdi suffered 74 seizures in a single day at his worst point.
Only 18 cases of KCNT1 epilepsy have ever been recorded in Australia.
Bohdi was referred to paediatric neurologist Dr Kavitha Kothur at the Children’s Hospital at Westmead when he was four months old. She said his seizures were long, unpredictable and frequent:
“He would be just unresponsive, stiffening, jerking, drooling.”
Conventional medications were failing, and Bohdi was losing developmental milestones a devastating experience for his family.
“Just seeing a child who was completely well … to a child who is constantly seizing and drowsy on the bed in intensive care for almost a month,” Dr Kothur said.
The precision‑medicine treatment marks a breakthrough for a condition that previously had no effective therapy, offering hope to families affected by this severe genetic epilepsy.
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