OUR SERVICES
Spinal Muscular Atrophy Australia Inc. is Australia’s peak body, providing Australians living with Spinal Muscular Atrophy and their families with best practice information care options, resources and choices for themselves or their children, when living with the condition.
SMA Australia has been supporting families for near 20 years since it’s foundation in 2005. Evolving from one-on-one family support to a national advocacy campaign to gain access to treatments. We continue to bring together the SMA community, through peer-to-peer support programs, as well as developing best practice outcomes for those living with SMA in Australasia. Our advocacy efforts have created options for families, past, present and future.
The SMA landscape in the last six years has drastically changed. It once was one of little to no hope – and many parents were told to take their child home and loved them till they died as there was nothing they could do – to one of hope and joy as families are now accessing treatments that are life changing.
Historically, we know that SMA is the number one genetic killer of babies under the age of two years of age and there was no known cure for SMA – nearly half of those born with Type 1 died before the age of two, and children with Type 2 generally died before adulthood. This was more than devastating for many families.
Treatment advancements saw the first drug, Spinraza, become available on the Pharmaceutical Benefits Scheme (PBS) in May 2018 for those with Type 1, 2 and 3 under the age of 19 years. Fast forward to today in 2023 and we now have three treatments available on the PBS for children, following the listings of Evrysdi (Risdiplam) (August 2021) and Australia’s first gene therapy treatment, Zolgensma (May 2022). On the 1 August 2022, Spinraza became the first reimbursed treatment to be made available on the PBS for SMA adults in Australia, and in October 2023 this was joined by Evrysdi (Risdiplam); providing the adult SMA community two treatment options. These treatments are not only changing lives, they are saving lives.
We are now seeing ‘New generation SMA’ where those children treated don’t look any different to their peers of the same age. There is no wheelchair because they can now walk and there is no aide to help them at school because their muscles have developed normally with treatment.
Over the last near six years, the diagnostic advances have been rapidly making a difference also.
In the May 2018 federal budget, the Australian Government announced $500 million towards genomics research: the Genomics Health Futures Mission, starting with a $20 million study of reproductive genetic carrier screening, called Mackenzie’s Mission. On 1 November 2023, we saw this pilot study become a reality, and free reproductive genetic carrier screening is now available to all couples in Australia who wish to have it. All Australians, not just to those that could previously afford the $385 test, are now able to make informed choices about their reproductive plans prior to deciding to start a family or in the early stages of pregnancy.
The Newborn Bloodspot Screening (NBS) pilot program in NSW/ACT saw over 202,000 babies screened and a handful of those detected for SMA through this program. In 2022, the NSW Health Department committed permanent funding to this program. In January and May 2023, the WA and QLD governments expanded their NBS programs to include SMA. With all other Australian States/Territories committing funding to add SMA to their own programs in early 2024, there will be many more cases that will be picked up at birth and the life outcome of all future babies who are diagnosed with SMA will be changed.
Spinal Muscular Atrophy Australia Inc. is a not-for-profit, registered, tax exempt charity with deductible gift recipient (DGR) status. The charity receives no Government funding and relies on sponsorship, events and generous donations so they can provide their support services to their SMA families. The charity is governed by a voluntary committee of management.
