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When Jonathon was just a few months old, his mum Megan Beit was told her son wouldn’t live until his first birthday.
Doctors had just discovered he had a devastating genetic condition, which robs children of their ability to walk, breathe and swallow – and eventually, usually takes their lives after just a few years.
But then, Jon had a dose of the world’s most expensive drug.
And he’s not only alive, aged two-and-a-half, but learning to walk.
“When you’re told your child will never walk and they’re in a frame and moving their legs it’s incredible,” Mrs Beit said.
“If you looked at him 12 months ago you wouldn’t think he was the same child.”
Jon has a condition called spinal muscular atrophy (SMA).
There are three types and type one, which he has, is the most severe.
It affects the nerves in the spinal cord, which control all the muscle movement of the body.
Shock diagnosis after worries
After he was born at the end of 2019, Mrs Beit, from Bywong near Canberra, said something was different compared to when she had her other children, Lily, 14, and Imogen, 12.
“He didn’t lift his head, he had a weak cry and a little cough – we used to make fun of it not knowing,” she said.
“I could feel that something was wrong.”
At first, Mrs Beit, a teacher, was brushed off by doctors, with one nurse telling her “all babies are different”.
Jon’s regular three month check-up was cancelled by the COVID-19 outbreak.
It wasn’t until she insisted on seeing her GP in person and was referred to a paediatrician, that doctors realised something was wrong.
“I knew it was serious… my husband was waiting in the car with the girls, and she said, ‘Is he here? You need to call him in,'” she said.
She was told her son had SMA, a type of motor neuron disease, and he had to be rushed to Randwick Children’s Hospital in Sydney immediately.
“I think I just was crying,” she said.
The family, including husband Andrew, 45, were warned not to Google search the disease – even though they’d never heard of it.
Doctors told Mrs Beit Jon’s life would likely be very short if nothing was done.
“He said without treatment he will probably not make his first birthday,” she said.
“I couldn’t believe it. I just said, ‘Do anything you can do’. It was horrible.”
Wonder drug costs $2.5m
There is no cure for the condition – but new drugs available over the past few years have offered dramatic improvements.
The latest drug, called Zolgensma, costs $2.5 million, making it the world’s most expensive.
Doctors applied for the Beit family to have it as part of treatment overseas, which wouldn’t have cost them anything.
But they were not allowed to travel to Chicago in the US because of the COVID-19 travel ban.
So instead, Mrs Beit said the Australian Government funded it in Sydney.
Jon had the valuable dose via an infusion in October 2020, aged nine months.
And while there were some side effects, once he’d recovered from those, he began to progress like never before.
“He’s been hitting goals and excelling beyond what we thought was possible,” Mrs Beit said.
That includes taking his first steps in the past few weeks, with the help of a walker.
However, he still can’t eat, as he cannot swallow properly, and he can’t talk.
He uses an iPad to communicate – which he is great at, his mum says.
“Intellectually, he’s very smart,” she said.
“He loves animals – he’ll come and feed the chickens.
“Aside from the physical disabilities, he’s such a normal toddler – he’ll even have tantrums.”
His mum hopes he’ll be able to go to a normal school in a few years.
Hope for a ‘classroom’ of children
Meanwhile, other families can now get the same drug for a little over $40, after it was put on the Pharmaceutical Benefits Scheme (PBS) at last month’s budget.
Prime Minister Scott Morrison said the “wonder drug” will save a “classroom” of kids each year – around 30 babies are born with SMA annually in Australia.
“This is going to give life-changing and life-saving treatment to many Australians who don’t even know they will need it yet,” he said.
Julie Cini from charity SMA Australia, who campaigned for the drug after losing two children to the condition, said the funding was “transformational”.
The Department of Health confirmed Zolgensma will be listed on the PBS from May 1 for the treatment of spinal muscular atrophy.
“The listing is expected to benefit around 20 patients each year. Without PBS subsidy, the treatment may cost more than $2.5 million,” a spokeswoman said.
“Under the PBS, the cost will be $42.50, or $6.80 for eligible patients with a concession card.”
From November 1, the government will also fund pre-pregnancy genetic testing for SMA and two other genetic conditions.