Major Newborn Screening Changes after Fatal Genetic Disorder Deemed Treatable


In 2017, Rachael and Jonny Casella lost their daughter, Mackenzie, to spinal muscular atrophy (SMA), the leading genetic cause of infant death.

Mackenzie was just 7 months old when she passed away.

Rachael and Mackenzie
Mackenzie and Rachael, before Mackenzie passed away. Source: Instagram

Spinal Muscular Atrophy, a neuromuscular disorder, causes the loss of lower motor neurons and progressive muscle wasting. The condition occurs in one in 10,000 births. Without treatment, babies have a life expectancy of about nine months.

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Rachael, Jonny and Mackenzie. Mackenzie lost her life to spinal muscular atrophy at just seven months. Source: Instagram

For the majority of expecting mothers, a genetic screening test for SMA, was not readily available. There is one but it is costly and testing for Spinal Muscular Atrophy was not on the free newborn screening list.

However, this will soon change, across Australia, following a very successful gene therapy trial. Queensland, New South Wales, ACT and Victoria are all planning to include screening for SMA and another fatal disease, SCID, in their free newborn screenings that take place after birth. 

This is amazing news for all expecting parents as it means they will be able to determine if their baby has SMA and prepare for what this means.

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Mackenzie and Evelyn are just two of the babies who have lost their battles with SMA. Kenzie’s story here. Evelyn’s story here

The newborn screening changes (which we break down below) have come thanks to a global trial that has confirmed that SMA may be potentially treatable with the right gene therapy.

Gene therapy to treat SMA considered very successful 

The global trial, which started in 2018 includes 29 babies with SMA. Of those 29 babies, four were treated at Sydney Children’s Hospital.

Of the babies, ALL of them reached 18 months and the majority achieved their developmental milestones, such as sitting independently and walking.

This is such beautiful news, especially as, prior to this therapy, an SMA diagnosis meant you would most likely be saying goodbye to your baby very soon.

As Associate Professor Michelle Farrar, who led the Sydney portion of the study, said,

Five years ago there was no therapy and, for the most common and severe form of SMA, the day you’d diagnose them was the best they’d ever be.

It was a real heart-sink to diagnose those kids.”

The shift from SMA diagnosis being a condition that led to discussions about palliative care to being treated through a one-off infusion therapy is huge, especially for parents who do discover their babies may have it.

It is a major breakthrough to be able to transform a condition that’s lethal into something we are screening for free and treating.”

The final results of the trial of the gene therapy, which is sold as Zolgensma and now listed on the Pharmaceutical Benefits Scheme, were published in Nature this month.

Positive results for Australian family 

One of the little girls who took part in the study was Alessia Sharpe. She was diagnosed with SMA in 2018 and qualified for the gene therapy trial before she turned one month old.

Alessia is now a bright and happy nearly-four-year-old. After gene therapy, she learned to crawl within a normal time frame and now loves to ride her scooter and climb on play equipment. Five years ago, this was unheard of for a child with SMA.

As Alessia’s dad, Adam tells The Age,

She’s not going to break the 10-second barrier in the 100 metres, but development-wise she’s fine – maybe a month or two behind physically.” 

Alessia is not only growing leaps and bounds but she’s also going to be a big sister very soon with Adam and, Alessia’s mum, Adriana, expecting their second child.

‘Life-changing for families’

Another mother with first-hand experience in spinal muscular atrophy is the CEO of Spinal Muscular Atrophy Australia, Julie Cini. Two decades ago, Julie lost both of her daughters to this heartbreaking condition.

The newborn screening for this condition, as well as SCID, is ground-breaking. As she said,

That’s going to be life-changing for families. You used to have a diagnostic odyssey because it’s a rare condition not widely seen; diagnosis could take months.

But getting an answer within three weeks of life – that’s phenomenal, that’s saving lives.”

Genetic screening changes

Below is a breakdown of the changes set to take place:

  • In NSW and ACT: All babies will now be offered free screening for SMA and another rare genetic disorder, Severe Combined Immunodeficiency Disorder (SCID). You can read the NSW government statement here.
  • In Queensland: The newborn screening program, which currently screens for 25 newborn conditions through a heel prick at birth, will include SMA and SCID by May 2023. You can read the statement from the QLD government here. 
  • In Victoria:  These conditions are expected to be added to the screening program over the next four years.
  • In Western Australia: WA is in the process of conducting a trial to determine if these tests will be included in the future.

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Avatar of Jenna Galley

Born and raised in Canada, Jenna now lives in Far North Queensland with her tribe. When the mum-of-three is not writing, you can find her floating in the pool, watching princess movies, frolicking on the beach, bouncing her baby to sleep or nagging her older kids to put on their pants.

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