Spinal muscular atrophy: a toddler with SMA walks thanks to a 2.5 million dollar ‘wonder drug’, which is the most expensive in the world

When Jonathon was only a few months old, his mother, Megan Beit, was told that her son would not live to his first birthday.

Doctors had just discovered that she had a devastating genetic condition, which deprives children of their ability to walk, breathe and swallow and ultimately usually takes their lives after just a few years.

But then, Jon had a dose of the most expensive drug in the world.

When he was just a few months old, new mom Megan Beit was told by doctors that her son, Jonathon, would not live to his first birthday because he was born with a genetic condition called SMA.
When he was just a few months old, new mom Megan Beit was told by doctors that her son, Jonathon, would not live to his first birthday because he was born with a genetic condition called SMA. (Supplied)

And not only is he alive, he’s two and a half years old, but he’s learning to walk.

“When you’re told your child will never walk and they’re on a frame and moving their legs, it’s unbelievable,” Ms Beit said.

“If you looked at it 12 months ago, you wouldn’t think it was the same child.”

Jon has a condition called spinal muscular atrophy (SMA).

There are three types and type one, which you have, is the most serious.

"When you're told that your child will never walk and he's in a frame and moving his legs, it's unbelievable," Mrs. Beit said.
“When you’re told your child will never walk and they’re on a frame and moving their legs, it’s unbelievable,” Ms Beit said. (Supplied)

It affects the nerves in the spinal cord, which control all muscle movement in the body.

Diagnosis of shock after worries

After she was born in late 2019, Ms Beit, from Bywong, near Canberra, said something was different compared to when she had her other children, Lily, 14, and Imogen, 12.

“He wouldn’t lift his head, he had a weak cry and a little cough, we used to make fun of not knowing,” he said.

“I could feel something was wrong.”

Doctors initially ignored Ms. Beit, a teacher, and a nurse told her that “all babies are different.”

Jon’s three-month regular checkup was canceled due to the COVID-19 outbreak.

It wasn’t until she insisted on seeing her GP in person and was referred to a pediatrician that doctors realized 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,'” she said.

She was told that her son had SMA, a type of motor neuron disease, and needed to be rushed to Randwick Children’s Hospital in Sydney.

When he was just a few months old, new mom Megan Beit was told by doctors that her son, Jonathon, would not live to his first birthday because he was born with a genetic condition called SMA.
Mom Megan Beit with Jon when he was born in 2019. (Supplied)

“I think he was just crying,” he said.

The family, including husband Andrew, 45, were warned not to Google the disease, even though they had never heard of it.

The doctors said that Ms. Beit Jon’s life would probably be very short if nothing was done.

“He said that without treatment he probably won’t make it to his first birthday,” he said.

“I couldn’t believe it. I just said, ‘Do what you can.’ It was horrible.”

There is no cure for the condition, but new medications available in recent years have offered dramatic improvements.

The latest drug, called Zolgensma, costs $2.5 million, making it the most expensive in the world.

The doctors requested that the Beit family receive him as part of treatment abroad, which would have cost them nothing.

The doctors said that Ms. Beit Jon's life would probably be very short if nothing was done.
The doctors said that Ms. Beit Jon’s life would probably be very short if nothing was done. (Supplied)

But they were not allowed to travel to Chicago in the US due to the COVID-19 travel ban.

So instead, Ms Beit said the Australian government funded it in Sydney.

Jon received the valuable dose through an infusion in October 2020, at the age of nine months.

And although there were some side effects, once he recovered from them, he began to progress like never before.

“He has been reaching goals and excelling beyond what we thought was possible,” said Ms. Beit.

When he was just a few months old, new mom Megan Beit was told by doctors that her son, Jonathon, would not live to his first birthday because he was born with a genetic condition called SMA.
Jon got the valuable dose through an infusion in October 2020, at the age of nine months. (Supplied)

That includes taking her first steps in recent weeks, with the help of a walker.

However, he is still unable to eat as he cannot swallow properly and cannot speak.

He uses an iPad to communicate, which he is excellent at, says his mother.

“Intellectually, he’s very smart,” he said.

“He loves animals, he will come and feed the chickens.

“Apart from the physical handicaps, he is such a normal child that he even throws tantrums.”

His mother hopes that he will 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 just over $40, after it was included in the Pharmaceutical Benefits Scheme (PBS) with last month’s budget.

Prime Minister Scott Morrison said the “wonder drug” will save a “classroom” of children each year: around 30 babies are born with SMA annually in Australia.

When he was just a few months old, new mom Megan Beit was told by doctors that her son, Jonathon, would not live to his first birthday because he was born with a genetic condition called SMA.
Megan said her son Jon is smart and lively. (Supplied)

“This will deliver life-changing and life-saving treatment to many Australians who don’t even know they will need it yet,” he said.

Julie Cini of the SMA Australia charity, which campaigned for the drug after losing two children to the condition, said the funding was “transformational”.

The Department of Health confirmed that Zolgensma will be listed on the PBS from May 1 for the treatment of spinal muscular atrophy.

“The list is expected to benefit about 20 patients each year. Without the PBS subsidy, treatment can cost more than $2.5 million,” a spokeswoman said.

“Under PBS, the cost will be $42.50 or $6.80 for eligible patients with a concession card.”

Beginning November 1, the government will also fund pre-pregnancy genetic testing for SMA and two other genetic conditions.

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