New asfotase alfa injections put Maxx Darby on his feet

A RARE condition saw Maxx Derby easily break bones throughout his childhood. Now, after becoming the first Australian to receive asfotase alfa injections, he’s back on his feet and has even landed a new job.

Maxx Darby, 23, is back on his feet after becoming the first Australian to receive asfotase alfa injections to treat the rare condition hypophosphatasia. Pictured with his dad Paul. Picture: David Caird

MAXX Darby has long stopped counting how many bones he has broken.

His first was when the then four-year-old slipped at the front door in the rush to greet visitors. He spent the next three months in a plaster cast from his waist to knees.

On his fifth birthday Maxx skidded on wrapping paper, breaking his femur.

There have been the broken ribs he didn’t even know about until routine scans weeks later illuminated the crack.

Maxx Darby, 23, was born with a rare condition in which he is lacking the minerals that make bones strong. Picture: David Caird

The last break was sustained on a nightclub dance floor.

It’s not a matter of being a klutz or unlucky to that has caused him to break one to three bones each year.

The 23-year-old was born without the key ingredients that make bones strong.

His parents Raelene and Paul were told their boy would not survive his first birthday after the diagnosis of the rare condition hypophosphatasia.

For the past four years his doctors have fought to have Maxx access a new daily treatment which replaces the essential missing ingredient in his skeleton, on compassionate grounds.

Just 18 months after becoming the first Australian adult to start injections of asfotase alfa, Mr Darby no longer needs to use crutches or a wheelchair to walk.

He no longer spends each day in pain. He is planning to start work in construction alongside his Dad, and for the first time can let himself daydream about overseas adventures he will take.

“I’ve got my sense of freedom back,” Maxx said.

“I was always told nothing could be done. But now everyday life is so much easier.

“I want to see the world now.”

While every day brought a constant mixture of sharp and dull pains, and enduring fatigue, Maxx has always made a point of just getting on with it.

Maxx Darby, 23, with his dad Paul. Picture: David Caird.

He spent a childhood patiently watching from the boundary line, or manning the score board, when his mates played football. Only his symptoms could be treated.

These same mates would piggyback him home after a night out when they got older, or push him down the street in a shopping trolley to get home from the nightclubs.

Monash Health Professor Peter Ebeling, Head of the Department of Medicine at Monash University School of Clinical Sciences, had heard about a potential treatment being trialled in the US when Maxx came to him four years ago.

Diagnosed infants were previously given a 20 per cent chance of being alive after five years.

But clinical trials were showing this drug increased their chance of life to 80 per cent chance.

Both Prof Ebeling and Maxx’ childhood doctor, Royal Children’s Hospital clinical geneticist Professor Ravi Savarirayan, started lobbying the government to allow affordable access to the drug.

“We’re treading new ground with this precision medicine,” Prof Ebeling said.

“We hope that his bones will be as strong as other people’s eventually. It’s transformative.”

With the Pharmaceutical Benefits Advisory Committee now considering an application to have the drug subsidised, there is growing infants could receive it soon after birth as a life saver.

Ms Darby said she was hopeful other families could be spared her family’s pain.

“Because he has always been in pain each day, he didn’t realise the amount of pain he was in until it was taken away,” she said.

“He’s alive now. The drug has opened up his whole world.”