Baby gets world-first treatment for seizure condition under NSW Government plan

An eight-month-old boy has become the first person to receive a new type of treatment for an extremely rare form of epilepsy.

Bohdi was born with KCNT1-related catastrophic epilepsy, an often-fatal condition that causes young babies to suffer up to 60 seizures every day.

WATCH THE VIDEO ABOVE: NSW baby first in world to receive breakthrough epilepsy treatment

KCNT1 is also extremely rare, making Bohdi just the 18th Australian to even be diagnosed with the condition which had no known effective treatment.

But that was until he became the first baby to receive a special type of treatment for the condition under the NSW Government’s Innovative Therapies Pathway.

Research that led to the treatment was led by paediatric neurologist at The Children’s Hospital at Westmead, Dr Kavitha Kothur, who found medication which had only been trialed in adults.

Kothur and other experts helped to use the “precision medication” to target the genetic cause of the condition and helps stop overactive brain currents from triggering seizures.

“Within days of starting the new medication, Bohdi’s seizures stopped and for the first time in months he no longer required around-the-clock care,” the NSW Government said.

“Bohdi has since begun smiling again and has been able to return home.”

Bohdi’s mother, Stephanie Higginson, said she 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.”

Bohdi is just one of many kids suffering from rare conditions across the state, which the Innovative Therapies Pathway hopes to provide personalised treatment to.

“We are entering a new era where highly personalised therapies for ultra-rare diseases are increasingly possible,” Medical Lead for Advanced Therapeutics at Sydney Children’s Hospitals Network, Dr Michelle Lorentzos, said.

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

The state’s minister for medical research, David Harris added the pathway has “the potential to become a global model for paediatric rare disease care”.

“We are reaching an incredible point with precision medicine, where treatments can be tailored to the individual genetic causes of disease, offering hope to families who have previously had very limited options when it comes to treatment.

“Bohdi’s breakthrough treatment highlights the strength of NSW’s medical research system and the impact on people’s lives when discoveries are translated rapidly and responsibly into patient care. It can be truly life changing.”