Eight-month-old Bohdi is smiling again after becoming the first person in the world to benefit from a new treatment for a rare form of childhood epilepsy.

Bohdi was born with KCNT1-related catastrophic epilepsy, an ultra-rare genetic disorder that affects young babies and can be fatal. With only 18 cases ever recorded in Australia, there was previously no known effective treatment.

The condition caused Bohdi to experience up to 60 seizures a day, affecting his development and his ability to smile. The frequency of his seizures also meant he required around-the-clock medical care.

Dr Kavitha Kothur, Paediatric Neurologist at The Children’s Hospital at Westmead, collaborated with international researchers to identify a precision medicine that targets the genetic cause of Bohdi’s condition and works to stop overactive brain currents from triggering seizures.

The medication had previously only been trialled in healthy adults and required extensive assessment before it could be given to a child.

The new Innovative Therapies Pathway, developed by Kids Research in partnership with the Kids Advanced Therapeutics and Medicines and Therapeutics Committee at the Sydney Children’s Hospitals Network (SCHN), streamlined this process, enabling Bohdi to receive the treatment in just six weeks.

Within days of receiving his first dose, Bohdi’s seizures stopped.

“While it is still early in the treatment journey, the clinical outcome for Bohdi has been excellent so far, with a complete cessation of seizures, and improvements in his development,” Dr Kothur said.

“To see such an early response in a child with such a severe disease is extraordinary. This breakthrough marks the beginning of a new era in genomic medicine for families facing rare genetic conditions, including severe epilepsy.”

Bohdi’s mother, Stephanie, said:

“I will never be able to thank Dr Kothur enough for what she has done for my family. She never gave up looking for answers, and she gave us hope when we needed it most.”

“Her work changed our lives. Bohdi’s now like a completely different baby.”

The Innovative Therapies Pathway accelerates access to highly personalised therapies for children with rare, complex, and life-limiting conditions where there is an urgent clinical need.

The pathway brings experts together to rapidly evaluate potential therapies, assess safety and efficacy evidence, and address ethics, governance, and operational readiness concurrently, rather than through separate sequential processes.

Dr Michelle Lorentzos, Advanced Therapeutics Medical Lead at SCHN, said the pathway could transform how innovative treatments are delivered to children with rare diseases.

“We are entering a new era where highly personalised therapies for ultra-rare diseases are increasingly possible.

“This goes beyond a single medication or a single patient; it’s about a new way of delivering innovative treatments to children.

“Collaboration has been critical in identifying the right therapy and enabling rapid access to treatment for Bohdi, and the outcome reflects the expertise of Bohdi’s multidisciplinary care team, as well as the contributions of the Epilepsy Research Centre.”

Bohdi is the first child to be treated through the pathway, which is expected to enable other children with rare diseases to receive emerging therapies when established treatment options are not available.

The Kids Advanced Therapeutics Program is generously supported by Luminesce Alliance and Sydney Children’s Hospitals Foundation.