Eight-month-old Bohdi Higginson became the first person in the world to receive a precision medicine treatment for a rare and devastating form of epilepsy at a Sydney hospital, after a new pathway was used to push an experimental therapy through the system. The case puts the machinery of medicine on full display: a child in crisis, a family with little room to maneuver, and a hospital network deciding which treatments get accelerated and which children wait.
Who Pays for the Delay
Bohdi, from the NSW Central Coast, began having seizures at just three months old and 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. His mother, Stephanie Higginson, said his condition rapidly deteriorated, with 74 seizures recorded on his worst day. She said, "That was the worst day of my life," and, "It was like my heart just got stepped on … and there's nothing I could do."
Dr Kavitha Kothur, a paediatric neurologist at the Children's Hospital at Westmead, referred Bohdi when he was four months old. She said his seizures could last several minutes and were both unpredictable and frequent. "He would be just unresponsive, stiffening, jerking, drooling," she said, describing "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." Conventional medications were not working, and Dr Kothur said Bohdi was losing developmental milestones.
The prognosis was grim. Dr Kothur said most children with the condition die in infancy or suffer severe disability. That’s the kind of sentence families get handed when the system has no answer and the clock keeps running.
What They Call Innovation
Doctors and researchers at the hospital identified the genetic change driving Bohdi's epilepsy and a potential treatment that had been developed overseas. Dr Kothur said the treatment had shown promising results in animal studies, but had never been given to a child, or patient with epilepsy. "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," she said.
A multidisciplinary team assessed the treatment through the Sydney Children's Hospitals Network's new innovative therapies pathway, designed to fast-track access to promising treatments. That’s the apparatus speaking in its own polished language: a pathway, a process, a fast track. Ms Higginson said she and her husband were terrified but felt they had little choice, making Bohdi the first recipient of the program. "The alternative was I was going to lose my son. So, we thought, why not? Let's give it a go," she said.
Bohdi received his first dose of the treatment on April 21, 2026, and had his final seizure just three days later. Dr Kothur said it was the best news of her whole career. SCHN medical lead for advanced therapeutics Michelle Lorentzos said the last time she saw Bohdi, he was unable to keep his eyes open and had stopped smiling. "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," she said.
The System’s Favorite Word: Access
Bohdi has continued receiving the treatment and will need ongoing monitoring to determine its longer-term effects. The hospital’s new pathway is being rolled out across the state, and Minister for Medical Research David Harris called the breakthrough an endorsement of that process. "Our health system is getting better at tuning itself to individual needs," he said. "Having these pathways in place that we can speed up that process is a win-win for everyone."
That language sounds tidy. The reality is messier. A child with a rare disorder needed a special channel to reach a treatment that had never been given to a child with epilepsy, while the family faced the brutal arithmetic of no good options. The hospital’s own experts had to identify the genetic change, find the overseas treatment, and push it through a new assessment route before the first dose could be given.
Ms Higginson said her son's world-first status was both daunting and special. "It took me and his dad 10 years to have a baby, and for my son now to be leading the way in this medication. I always knew he was special, but he's just proven that he's even more special than I could ever [have] imagined," she said. She added, "There is hope ... miracles do happen," and, "Just keep advocating for your children because I'll never stop advocating for him."
Precision medicine means tailoring treatment to the genetic characteristics of an individual patient. In Bohdi's case, researchers used his genetic diagnosis to identify a treatment specifically aimed at the abnormality causing his epilepsy. Dr Lorentzos said the innovative therapies pathway could ultimately benefit other children with conditions that are currently difficult to treat. "If we have a pathway like this where we can streamline our process of assessing and delivering treatments for children, then that could actually change the lives of … hundreds of thousands of children within New South Wales," she said.