Australian baby becomes first in the world to receive breakthrough epilepsy treatment
An eight-month-old Australian baby has become the first person globally to receive a precision medicine treatment for a rare, fatal genetic epilepsy. The treatment was administered after conventional medications failed to stop the infant's frequent and severe seizures.
Why it matters
This represents a significant milestone in precision medicine, demonstrating the potential for targeted genetic therapies to treat previously incurable, life-threatening conditions in infants.
A baby from the NSW Central Coast in Australia has made medical history, becoming the first person in the world to receive a precision medicine treatment for a rare and devastating form of epilepsy.
Eight-month-old Bohdi Higginson began having seizures at just three months old.
His mother, Stephanie Higginson, said his condition rapidly deteriorated, with 74 seizures recorded on his worst day.
"That was the worst day of my life," Higginson said.
"It was like my heart just got stepped on … and there's nothing I could do."
Bohdi was diagnosed with KCNT1-related catastrophic epilepsy, an often-fatal genetic disorder for which there was previously no known effective treatment.
Only 18 cases 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.
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