Baby Bohdi Seizure-Free After World-First Epilepsy Treatment

Bohdi Higginson was having up to 74 seizures a day when his parents faced an impossible choice: try an experimental treatment never given to a human, or watch their baby slip away.

The NSW Central Coast baby started seizing at just three months old. Within weeks, he was diagnosed with KCNT1-related catastrophic epilepsy, a genetic disorder so rare only 18 cases have been recorded in Australia.

"That was the worst day of my life," said his mother Stephanie Higginson, recalling the day doctors counted 74 seizures. "It was like my heart just got stepped on, and there's nothing I could do."

Conventional medications weren't working. Bohdi was losing the ability to smile, to keep his eyes open, to do anything babies should do.

Then doctors at the Children's Hospital at Westmead found hope. Researchers identified the exact genetic mutation causing Bohdi's seizures and a treatment developed overseas that had shown promise in animals but never in humans.

Dr. Kavitha Kothur, Bohdi's paediatric neurologist, called the decision to proceed both exciting and terrifying. A multidisciplinary team fast-tracked the treatment through a new innovative therapies pathway designed for exactly these situations.

"The alternative was I was going to lose my son," Stephanie said. "So we thought, why not? Let's give it a go."

The Ripple Effect

Bohdi received his first dose on April 21. Three days later, he had his final seizure.

"To walk in and see this gorgeous, babbling, beautiful baby who's controlling his head and kissing his mum and really just doing everything a baby should be doing, is really quite magnificent," said Dr. Michelle Lorentzos, who leads advanced therapeutics for Sydney Children's Hospitals Network.

The breakthrough represents more than one family's miracle. The innovative pathway that saved Bohdi could help hundreds of thousands of children across New South Wales access cutting-edge treatments for conditions currently considered untreatable.

Precision medicine tailors treatment to a patient's specific genetic makeup. In Bohdi's case, doctors matched his unique genetic diagnosis to a therapy targeting exactly what was going wrong in his brain.

It took Stephanie and her husband 10 years to have Bohdi. Now their baby is leading the way for other families facing similar heartbreak.

"There is hope," Stephanie said, "miracles do happen."