SMA Australia: Recent Episodes
Alba Prime
Spinal Muscular Atrophy (SMA) is a rare genetic muscle wasting disease that is the childhood version of motor neurone disease.
If you are newly diagnosed, or have just come across our page for the first time, we urge you to get involved, within the SMA community here in Australia. We would love to hear from you and are happy to support you on your journey.
We acknowledge that each person is different, and we endeavour to assist you and your requirements.
Presented by psychologist Marcia Braden PhD, this overview lays the foundations for understanding and supporting the neurological underpinnings of behavioural presentations associated with Fragile X syndrome. This was the introductory presentation by Dr Braden for a live Q&A webinar on supporting behaviours in young children with Fragile X syndrome, produced by Fragile X Association of Australia in collaboration with Fragile X New Zealand on 13 July 2025.
This presentation outlines:
the genetic basis of Fragile X syndrome
the neurological impact on cognition and behaviours which is caused by the lack of/reduced FMR1 protein for many individuals with Fragile X syndrome
neurological basis of traits associated with Fragile X syndrome: high anxiety; weakened short-term memory and attentional control; hyperactivity; and reduced executive function
overview of strengths and challenges in daily living associated with Fragile X syndrome
overview of behaviours which may result from the high levels of anxiety experienced by individuals with Fragile X syndrome
impact of elevated hyperarousal associated with Fragile X
neurological underpinnings of the behavioural cycle and interaction with the responses from parents/caregivers
reference to the ABCs of behaviour (Antecedent, Behaviour, Consequence) in supporting behaviours resulting from the neurobiology of Fragile X syndrome. This webinar/Q&A was presented on 13 July 2025, and hosted for Fragile X Association of Australia by Andrea Lee, Executive Director of Fragile X New Zealand.
We know the non-recommendation of both Nusinursen (Spinraza) and Evrysdi (Risdiplam) for the adult community has left many feeling deflated. We want to acknowledge this and also reassure you; we haven’t stopped in our quest to work with the relevant stakeholders to ensure that future submissions to the PBAC are the best representation of our adult community – but we can’t do this without YOU!
So we are hosting this follow-up webinar with Dr. Lauren Saunders, from St Vincent’s Hospital in Melbourne, and Jo Watson, the Deputy Chair and Consumer Rep for the PBAC.
We want to respond to your questions that you have regarding not being able to access treatment. Dr. Lauren will be answering any clinical questions, and Jo Watson, any questions you may have for the PBAC.
SMA Webinar Series Number 9: What about me? Accessing treatments for adults
We are asking YOU to submit questions to SMA ahead of the meeting so that we can address them on the Zoom call with everyone.
We also want to plan for the next steps and how you can be involved.This is really important moving forward – as the united voice of the community, with regards to access to treatment is vital right now.
We invite and encourage you to attend. These meetings have been organised to keep you in the loop and inform you what is needed moving forward.
Please feel free to share amongst the community for those we may not be in touch with, the greater the conversation we can have around this issue, the better we can help you to gain access to medicines.
Now that Newborn Screening (NBS) has been recommended, we turn our focus to the Australian states and territories, as this is where NBS gains funding. Each state has to allocate in their budget to pay for testing.
Some states are actively looking at funding NBS, whilst in other states it’s not even on their radar for funding, so we together as a team need to campaign as a team to highlight the need for NBS in each state.
As we have previously stated, a person’s postcode shouldn’t determine if they get screened at birth for SMA.
The Importance of a patient registry and why to participate
Guest: Robin Forbes
Visit http://smaaustralia.org.au for more information
In this episode, we speak to Australian Paralympian Champion, Daniel Michel about getting involved in sports with a disability.
Fiona Tolich
“My ultimate goal is to get access to treatment. New Zealand is the second lowest country in all of the OECD countries to get access to the expanded access program. We will keep fighting. My motto is we leave nobody behind. “ - Fiona Tolich
Fiona is 30 year old SMA diagnosed mother from New Zealand. In this episode, she talks about how SMA made her want to advocate for the basic human right which is having access to the most modern treatment and medicine for SMA.
Listen in to our discussion about the following topics:
Fiona shares her SMA journey and how it would have been treated earlier
How scarce SMA-related information is in New Zealand back in the days
How she committed herself in advocating for access to treatment and medicine for NZ
Information and support she gained from the SMA conference
Fiona is excited to bring home more stories of inspiration and helpful information about SMA management in May 2020 at the SMA Australia conference.
Check out the links below to know more about Fiona Tolich and SMA:
Facebook - https://www.facebook.com/fiona.maccallum.3
LinkedIn - https://www.linkedin.com/in/fionatolich/?originalSubdomain=nz
Cure SMA - http://www.curesma.org/
Call us (03) 9796 5744
Email us at reception@smaaustralia.org.au
Visit our website at http://www.smaaustralia.org.au
Facebook Page: https://www.facebook.com/SpinalMuscularAtrophyAustralia
James Ian
“Music for sure saved me...and helped me break out of my shell, and started writing songs that would resonate me overcoming challenges.” - James Ian
In this episode, James talks about his touching story of how music changed his life. Having SMA was never a blocking factor for living his life to the fullest. No matter how different others see him because of his condition, he nonetheless has a great support system through his family.
Listen in to our discussion about the following topics:
James shares his SMA diagnosis journey
How music became a huge part of his life
James’ style and influence of music and his album!
How his songs in his album were created
SMA conference in Australia
Make sure to check out and support James Ian and his album called “The Labor of Love”
Song in the intro: https://www.youtube.com/watch?v=5qfaizGGG8o
Spotify: https://open.spotify.com/album/2SgQExsOK7vSi7dZOE6Ioq
Twitter: https://twitter.com/jamesianmusic?lang=en
YouTube: https://www.youtube.com/channel/UCAZW7oh7MqxihkkIj9kXBDQ
iTunes/Apple Music: https://itunes.apple.com/us/album/the-labor-of-love/1204076181
Cure SMA - http://www.curesma.org/
Call us (03) 9796 5744
Email us at reception@smaaustralia.org.au
Visit our website at http://www.smaaustralia.org.au
Facebook page: https://www.facebook.com/SpinalMuscularAtrophyAustralia
Sook Yee
"My son started painting when he's 2 years old, and we use that as a therapy." --Sook Yee.
Sook Yee is a Malaysian mom whose son has SMA. Doctors believed her son had only one year to live. Now that her son just celebrated his ninth birthday, Sook Yee finds a way to empower people in her SMA advocacy.
Sook Yee explains how she inspires parents in Malaysia with children with SMA.
Here are the highlights of her interview:
Practising the best standard of care is vital to every child’s journey with SMA
Motivating her son to enjoy his past time, such as painting, and made that a symbol to inspire others
Raising funds from his son’s paintings with the help from Unicef and Petronas in Malaysia
Taking advantage of radio and newspaper to spread information on the best standard of care for SMA
Continued search on websites and countries containing information dealing with SMA
Giving importance on attending SMA conferences to connect to people with the same experience
Sook Yee’s son has no Facebook page yet but they were able to set up a Facebook group called “Brandon Growing Up with Spinal Muscular Atrophy”.
Discover more in this podcast how Sook Yee is inspired her by her son’s happy disposition to continue her amazing advocacy of SMA. Sook Yee can’t wait to share valuable information on SMA management in May next year for SMA Australia conference.
Cure SMA - http://www.curesma.org/
Call us (03) 9796 5744
Email us at reception@smaaustralia.org.au
Visit our website at http://www.smaaustralia.org.au
Facebook Page: https://www.facebook.com/SpinalMuscularAtrophyAustralia
Al Freedman
“We’re lucky to have our kids to however long we have them, and that’s how I feel about my son… think about what our kids can do.” - Dr. Al Freedman
Having a support system from friends and families for our people who are diagnosed with SMA is the most wonderful way we can build a better community for them.
We are joined by Dr. Al Freedman who is a psychologist by profession and a loving father to his son, Jack, who has SMA.
Listen in to our discussion about the following topics:
Dr. Freedman’s inspiring story about his son, Jack (0:54/ 3:41)
What advice we can share to families with children diagnosed with SMA (1:30)
Global SMA conference by Cure SMA (3:30)
The SMA Community and Support Groups (5:02)
Upcoming SMA conference with Dr. Freedman in Australia (5:49)
Peer-to-peer discussions between kids with SMA (6:55)
Stigma around SMA (Spinal Muscular Atrophy) (8:08)
Parenting advice from Dr. Freedman (8:56)
And there are more discussions at the end of this episode!
Know more about Dr. Al Freedman at http://www.drfreedman.com/
Cure SMA - http://www.curesma.org/
Call us (03) 9796 5744
Email us at reception@smaaustralia.org.au
Visit our website at http://www.smaaustralia.org.au
Facebook Page: https://www.facebook.com/SpinalMuscularAtrophyAustralia
Zolgensma drug by Avexis brought into Australia
Roche - https://www.roche.com/research_and_development/what_we_are_working_on/neuroscience/approaching-sma.htm
Parliament date to be announced, looks like some time in August 2019 (Awareness Month)
Gala in Melbourne and Brisbane. Purchase tickets here: https://smaaustralia.org.au/get-involved/upcoming-events
Please contact us if you would like to see a Sydney event
Be SMA Aware App currently in development. Please share what are things that you are struggling with and need support with.
Currently working on a dedicated SMA Conference for May 2020 (potentially on the Gold Coast)
Newborn Screening fact sheet:
https://www.facebook.com/SpinalMuscularAtrophyAustralia/photos/a.370736359243/10157422001809244/?type=3&theater
Today's guest is Liliana Bulfone and Julie discusses the PBAC process and Spinraza.
Contact us at reception@smaaustralia.org.au or call (03) 9796 5744
Visit our website at http://www.smaaustralia.org.au
Facebook https://www.facebook.com/SpinalMuscularAtrophyAustralia