Luca Cacciotti becomes first person in NSW to try drug that could slow progress of motor neurone disease

What started as some weakness in his ankle and a slight limp has progressed to Luca Cacciotti needing a wheelchair to get around. A new drug treatment has given him hope for the first time in months.

When Luca Cacciotti was diagnosed with motor neurone disease eight-months ago, he felt like he had been “hit with a sledgehammer”, but for the first time since that day, he feels a sense of hope about his future.

The day he was diagnosed with the MND – which has no cure, causes weakness in the muscles, and eventually leads to paralysis – his world was turned upside down.

“I was kind of expecting it, I’d had symptoms for about a year before that,” he said.

“But it was a huge hit, it was like a sledgehammer, my life changed forever in that moment.”

What started as some weakness in his ankle and a slight limp has progressed to Mr Cacciotti needing a wheelchair to get around.

Dr Steve Vucic and Luca Cacciotti at Concord Hospital. Picture: Tim Hunter

But after testing revealed his type of MND was linked to a rare genetic mutation – he became eligible for a new drug designed to slow, and possibly even stop, the progression of the disease.

The drug is called Tofersen and is administered three times in the first month and then monthly after that. But the problem is the price, costing more than $15,000 per dose, it is not covered by the Pharmaceutical Benefit Scheme.

Knowing the breakthrough drug could slow down the progression of Mr Cacciotti’s disease, neurologist Steve Vucic fought for him to be the first person in the NSW public health system to receive the treatment – and at zero cost under compassionate grounds.

“Hopefully we will be able to slow down the disease and maybe improve things like strength and breathing,” Dr Vucic said.

Luca Cacciotti is being treated with Tofersen, a new drug that has been administered for the first time in a NSW public hospital. Picture: Tim Hunter.

“He’s a courageous young man and it’s been very inspiring to see a 42-year-old man battle this debilitating disease.

“He’s taken on something very difficult so well, and his fight and spirit have been amazing.”

Mr Cacciotti said the drug, which is injected into the spine via lumbar puncture, has given him a new sense of hope following what’s been an incredibly tough few months.

“I know that most people don’t have a treatment like this, so it’s given me a glimmer of hope, it’s given me something to hold on to,” he told the Saturday Telegraph.

“Other people may not have that sense of hope so as awful as this is, I feel lucky at the same time.”

Dr Vucic said based on studies out of the UK and the US, it would take about 12 months of Tofersen use before he could establish whether the drug has worked for Mr Cacciotti.

While he admits his first treatment at Concord Hospital was painful, Mr Cacciotti said he had no hesitation in returning for his second dose this week.

“The pain is nothing in comparison to the outcome,” he said.

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