NSW baby makes history after new epilepsy treatment

By Chantelle Al-Khouri

Topic:Epilepsy

Bohdi Higginson started having seizures at three months old in his life daily now

In short:

Bohdi Higginson was told he has a rare genetic disorder that often kills after seizures began at three months.

Doctors in Sydney found the gene change that caused Bohdi's epilepsy and a possible medicine made abroad.

Bohdi had his last seizure three days after his first treatment dose on April 21.

A baby from NSW Central Coast became the first person ever to get a precision‑medicine cure for a severe epilepsy type.

Eight‑month‑old Bohdi began having seizures when he was three months old.

His mother Stephanie said his health got worse fast, with 74 seizures on his worst day.

It felt like my heart was stepped on and I could do nothing.,

Stephanie Higginson with her son, Bohdi. (ABC News: Timothy Ailwood)

Bohdi was diagnosed with KCNT1‑related catastrophic epilepsy, a deadly genetic disease with no known cure before.

Only 18 cases have ever been recorded in Australia.

'Constantly seizing and drowsy'

Bohdi was sent to paediatric neurologist Kavitha Kothur at Westmead Children’s Hospital when he was four months old.

Dr Kothur said his seizures could last minutes, were unpredictable and happened often.

He would be unresponsive, stiff, jerking and drooling, Dr Kothur explained.

Dr Kothur said regular medicines did not work and Bohdi was missing milestones, which broke the family’s heart.

Seeing a child go from healthy to constantly seizing and sleepy in intensive care for almost a month was heartbreaking, Dr Kothur said.

Dr Kothur called giving the treatment “exciting” but also “scary”.

The doctor warned the disease usually ends in early death or severe disability for most children.

Hospital staff quickly found the gene change behind Bohdi’s epilepsy and a possible overseas treatment.

The treatment had good results in animal tests but had never been used on a child with epilepsy before.

A team of specialists reviewed the treatment through Sydney Children’s Hospitals Network.

The team used SCHN’s new innovative therapies pathway to speed up access to promising medicines.

Ms Higginson said she and her husband were scared but felt they had no other choice, making Bohdi the first patient.

"The alternative was losing my son. So we thought, why not? Let’s try it," she said.

A world first

Bohdi got his first dose on April 21 and had his final seizure three days later.

Dr Kothur said it was the best news of her whole career.

Bohdi’s last seizure came three days after his first treatment dose.

SCHN medical lead Michelle Lorentzos said the last time she saw Bohdi he could not keep his eyes open and had stopped smiling.

Seeing this baby now babbling, moving his head, kissing his mum and doing normal baby things is truly magnificent, Dr Lorentzos said.

Bohdi keeps getting the medicine and will be watched to see long‑term effects.

Dr Lorentzos calls Bohdi’s improvement after the treatment “quite magnificent”.

Minister for Medical Research David Harris said the breakthrough proves the new pathway works across the state.

"Our health system is getting better at matching treatment to each person," Mr Harris said.

"Having fast pathways is a win‑win for everyone," he added.

Ms Higginson said her son’s world‑first status feels both scary and special.

"It took us ten years to have a baby, and now my son leads the way with this medicine. I always knew he was special, but he is even more amazing than I imagined," she said.

Future of precision medicine

Bohdi’s mother repeats that her son’s world‑first status feels both scary and special.

Precision medicine means tailoring treatment to a patient’s own genetic make‑up.

In Bohdi’s case, scientists used his genetic test to pick a drug that targets the exact problem causing his epilepsy.

Dr Lorentzos said the innovative therapies pathway could help other children with hard‑to‑treat conditions.

"If we have a pathway that speeds assessment and delivery of treatments for children, it could change the lives of hundreds of thousands of kids in NSW," she said.

Ms Higginson hopes the medicine will later be available to other children who need it.

"Keep fighting for your children; I will never stop fighting for him," she said.

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