It is one of the most expensive drugs to ever hit the market, but at $3.5 million per one-off dose, it can mean the difference between life and death for a baby born with spinal muscular atrophy (SMA).

Zolgensma, a gene therapy, is approved by the Therapeutic Good Administration (TGA) but is currently facing a Pharmaceutical Benefits Advisory Board (PBAC) decision on whether to list it for subsidy on the Pharmaceutical Benefits Scheme.

One in 35 people carry the gene mutation for SMA.

SMA leads to paralysis, breathing difficulties and death within months for babies born with Type I, the most serious form. About 30 babies a year, an entire classroom of children, are born with SMA each year.

Reena McIntosh was diagnosed with SMA at five months and her parents accessed Zolgensma through an overseas program when she was 16 months old.
Reena McIntosh was diagnosed with SMA at five months and her parents accessed Zolgensma through an overseas program when she was 16 months old.

Leading a trial of Zolgensma in NSW is Associate Professor Michelle Farrar from the University of NSW and Professor Ian Alexander at The Children's Hospital at Westmead.

Zolgensma, by pharmaceutical company Novartis, uses a modified, harmless virus to target the non-working gene by replacing it with a new, working copy of a human spinal motor neuron gene, therefore blocking the degeneration that marks the disease.

"We are treating the root cause of the problem. They are missing a gene, which is causing their disease, and we are giving that gene back to them," A/Prof Michelle Farrar said.

"The gene is delivered inside a virus that doesn't cause a disease in its own right, and doesn't get into your DNA and change you as a person. It sits in the cells outside your DNA and makes what you're missing."

Julie Cini’s daughter Montanna Brownlaw died of SMA at 10 months old in 2004.
Julie Cini’s daughter Montanna Brownlaw died of SMA at 10 months old in 2004.

The catch is babies with SMA need to receive the drug in the first few weeks of life before the irreversible damage starts, but without newborn screening, few parents even know their babies have the disease until it is too late.

If the tiny window of opportunity is missed, life expectancy in the severe forms may not reach two years and lesser forms will leave children disabled.

NSW and the ACT currently have a pilot program for infant screening for SMA but other states do not, so where you live can affect a baby's chance of survival says Julie Cini, who lost both her baby daughters to the devastating disease.

"Montanna was born in August 2004 and she died in June 2005 aged nine months, and Zarlee was born on December 2006 and died on Christmas Day 200 aged 12 months and 12 days old," Ms Cini told The Sunday Telegraph.

Julie Cini’s second daughter Zarlee Brownlaw also died at 12 months of age in 2007.
Julie Cini’s second daughter Zarlee Brownlaw also died at 12 months of age in 2007.

The Victorian mum, who has since devoted her life campaigning for treatments and newborn screening for SMA, said the drug was a game changer.

"Oh my god I have seen kids on it and I cannot believe my eyes. After watching my children die before me and now seeing children that have access to it, early, those children you can't tell they have SMA all," she said.

"It is phenomenal, it's transformational, I can't believe my eyes."

Hospitals already offer newborn bloodspot screening (NBS) to babies in all states and territories for conditions like cystic fibrosis, but not SMA.

Federal health Minister Greg Hunt has urged all states and territories to add SMA to the existing screening.

Ms Cini estimates it would only cost an extra $10 per child to add SMA screening to the existing program.

"There are children who are missing out. The earlier you get access to treatment the better outcome and better quality of life. Best results in the NSW trial are showing those who were treated with Zolgensma in the first six weeks of life," Ms Cini said.

Rachael and Jonathan Casella welcomed their first child Mackenzie in 2017 unaware she had SMA. She was diagnosed at 10 weeks of age and died at age seven months.

Rachael and Jonathan Casella with Mackenzie, who died of SMA in 2017.
Rachael and Jonathan Casella with Mackenzie, who died of SMA in 2017.

Neither couple knew they were carriers and have spearheaded a program for preconception screening, but they also believe newborn screening is a must for all parents across the nation.

Mackenzie Casella died of SMA when she was seven months old.
Mackenzie Casella died of SMA when she was seven months old.

"I can't state the importance of SMA being on the heel prick test, even though we want to see genetic carrier screening, while that is still being developed, not everyone will do it,"

Ms Casella said.

"With SMA is it one condition that starts at birth and once you start losing function you don't get it back again. If it is not on the heel prick test, you don't get the option to give treatment before a baby displays treatment.

"I strongly encourage all the states and territories to add SMA onto the heel prick test.

"It is unfair babies don't get access to the best types of therapy because a state doesn't have a heel prick test."

Rachael and Jonathan Casella with their two-week-old son Izaac, who was conceived via IVF to eliminate the SMA gene defect. Picture: Sam Ruttyn
Rachael and Jonathan Casella with their two-week-old son Izaac, who was conceived via IVF to eliminate the SMA gene defect. Picture: Sam Ruttyn

One such baby is Oakley Gough who was born in Brisbane just five months ago. Queensland does not have a screening program.

Oakley appeared prefect at birth, but by eight weeks of age, she was diagnosed with SMA. She was given six months to live and currently requires ventilation to breathe.

She receives the current therapy called Spinraza that slows the damage, but her parents Kate and Grant Gough are hoping she can still get Zolgensma if the PBAC approves it for subsidy on the pharmaceutical benefits scheme, however PBAC will not meet before July.

Oakley Gough was diagnosed with SMA when she was eight weeks old.
Oakley Gough was diagnosed with SMA when she was eight weeks old.

The catch 22 for Oakley is if the drug is approved, it will only be available for babies under nine months of age and Oakley may just miss out.

"She was diagnosed at eight weeks of age but a lot of the damage was already done. She was feeding, breathing, moving normally but fast forward to eight weeks of age and all of that was impacted, she now requires machines to help her to breathe and feed. We've been told she will never walk," mum Kate Gough said.

The PBAC has questioned the cost of the drug versus existing therapies like Spinraza, despite Spinraza requiring a lifetime of four-monthly injections directly into the spine.

Novartis has argued Zolgensma is one the first gene therapies and a one off treatment, close to a cure if administered early enough and, over a lifetime, costs less than existing treatments.

Grant and Kate Gough with daughter Arabella and baby Oakley, who has SMA.
Grant and Kate Gough with daughter Arabella and baby Oakley, who has SMA.

Spinraza, was approved last year on the PBS but it equates to around $5.2 million a decade for a patient. Oakley has Spinraza four times a year.

"Zolgensma is a once off treatment instead of a lumber puncture every four months (for Spinraza) imagine that for a toddler? It's ongoing medical trauma for Oakley," Ms Gough said.

Reena McIntosh was diagnosed with SMA at five months of age.
Reena McIntosh was diagnosed with SMA at five months of age.

Reena McIntosh was diagnosed at five months of age in 2019. Her mum Katie McIntosh, from Ipswich in Queensland was offered Spinraza.

"We were told she was unlikely to ever be able to walk," Ms McIntosh said.

"In NSW she would have been screened and got treatment earlier."

Reena's parents managed to get access to Zolgensma through the Medical Treatment Overseas Program and imported it from the United States on compassionate grounds. Reena had it at 16 months.

Aviana McElvee is now confined to a wheelchair.
Aviana McElvee is now confined to a wheelchair.

"She can now sit up now and has continued to progress with her motor development. And she no longer has to have the lumber puncture every four months for Spinraza," Ms McIntosh said.

"Screening is so important and it has been so frustrating. If she had been screened at birth we'd have known in a week. Every day the child is losing motor neurons and that mean that muscle is dying," Mr McIntosh said.

Bethan McElvee's daughter Aviana was diagnosed at three months, but by then, too many motor neurons has been damaged.

Four monthly lumber puncture injections of Spinraza have saved her life, but is wheelchair bound and will be on it for the rest of her life.

"Screening would have made a huge difference, if it was picked up at birth she would be walking and eating normally.

"She had the heel prick test for other diseases at birth, if only when they did that they had tested for SMA, since it is the biggest genetic killer of infants, we are shocked it's not on the newborn screening test," the Darwin mum said.


Originally published as Push to get $3.5m drug approved to save kids' lives

Kate Gough with her daughter Oakley, who has SMA. Picture: Nigel Hallett
Kate Gough with her daughter Oakley, who has SMA. Picture: Nigel Hallett
Reena McIntosh, 2, with parents Katie and Clayton.
Reena McIntosh, 2, with parents Katie and Clayton.

Interactive: Where you can still get a house for $500k

Premium Content Interactive: Where you can still get a house for $500k

Here’s where you can still get a house for less than $500,000

Queen's sorrow as PM sums up sadness

Premium Content Queen's sorrow as PM sums up sadness

Scott Morrison speaks to the Queen on Prince Philip's passing

Blue-eyed surfer becomes dad-of-50 in sperm bank glitch

Premium Content Blue-eyed surfer becomes dad-of-50 in sperm bank glitch

There are now fears he could have fathered dozens more