NSW baby first in world to receive breakthrough epilepsy treatment

Eight-month-old Bohdi Higginson from the NSW Central Coast has become the first person globally to receive a groundbreaking precision medicine treatment for a rare and severe form of epilepsy. Bohdi began experiencing seizures at just three months old, and his condition rapidly worsened, with his mother, Stephanie Higginson, describing his worst day as having 74 seizures.

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That was the worst day of my life. It was like my heart just got stepped on … and there's nothing I could do.

Diagnosed with KCNT1-related catastrophic epilepsy, a genetic disorder with a high fatality rate and previously no known effective treatment, Bohdi's case was particularly dire. Only 18 instances of this condition have been recorded in Australia. Conventional medications proved ineffective, and Bohdi was losing developmental milestones, a devastating reality for his family.

Paediatric neurologist Kavitha Kothur at the Children's Hospital at Westmead noted that Bohdi's seizures were unpredictable, frequent, and could last several minutes, leaving him unresponsive. The condition typically carries a poor prognosis, often resulting in infant death or severe disability.

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He would be just unresponsive, stiffening, jerking, drooling.

Doctors identified the specific genetic mutation causing Bohdi's epilepsy and a potential treatment developed overseas. While the treatment showed promise in animal studies, it had never been administered to a child or an epilepsy patient. Dr. Kothur described the decision to proceed as both "exciting" and "scary."

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Just seeing a child who was completely well … to a child who is constantly seizing and drowsy on the bed in the intensive care for almost a month.

After assessment through the Sydney Children's Hospitals Network's innovative therapies pathway, Bohdi received his first dose on April 21. Remarkably, his seizures ceased just three days later. Dr. Kothur called it the best news of her career, signifying a world-first success for this novel therapy.

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It was exciting but at the same time, it was also scary because we didn't know whether it would work or it would harm.