Biogen, in collaboration with Spinal Muscular Atrophy Australia and Paralympian Dylan Alcott OAM, have recently launched the inaugural ‘Trailblazer Challenge’, aimed at bringing much needed support and solutions to the everyday challenges faced by adults living with Spinal Muscular Atrophy (SMA). In this interview, Julie Cini, CEO of Spinal Muscular Atrophy Australia, outlines why she started SMA Australia and the impact the Trailblazer Challenge will have on the SMA community.
- Can you tell me a little about yourself and how SMA Australia was created?
I started SMA Australia 6 weeks after the death of my first daughter Montanna to SMA type 1. There was no one to talk to when I went through her diagnosis and I didn’t want other parents to experience the same feeling of helplessness. Subsequently my partner was killed in a car accident when I was 13 weeks pregnant, and as SMA is genetic my 2nd daughter Zarlee was also born with Type 1 SMA and died 12 months later on Christmas Day 2007.
I lost the whole three of them in 2.5 years. I want people to see what I have done out if it though and the last 15 years has been spent supporting families through diagnosis, improving access to treatment and advocating for SMA to be added to the Newborn screening bloodspot panel to name a few.
I am passionate about what I do and love to help others. I’m a mentor now not only to those living with SMA but those supporting others with a rare condition. I’m lucky that my reach is now global and I’m excited about the SMA landscape and new generation SMA.
- What is Spinal Muscular Atrophy?
Spinal muscular atrophy is an inherited condition that is caused when nerve cells that service the muscles don’t work properly, causing muscle weakness and wasting. In its most severe forms, SMA can cause paralysis and difficulty with the most basic functions of life such as eating, getting dressed and mobility. There is no known cure for SMA and many adults with SMA live with the fear of functional decline and further loss of independence.
- Is it a common disease?
SMA is a rare genetic condition that effects one in 10,000 babies. SMA is also carried in 1 in 40 people – these people carry a copy of the altered gene that causes the condition although they don’t have the condition themselves. The faulty gene is passed on from both parents and each time they have a pregnancy they have a 1 in 4 chance of having a child with SMA.
- What is the Trailblazer Challenge?
The trailblazer Challenge is a first of its kind initiative with Biogen, SMA Australia and Paralympian Dylan Alcott OAM – designed to identify what day to day challenges face our SMA community and how we can solve these challenges for them.
- Why is this challenge so important for people living with SMA?
This challenge is so important because we need to provide better support for people living with SMA – their quality of life can be very poor and so this campaign is seeking to raise awareness about what those challenges are and then importantly, take the next steps in a virtual hackathon to solve those challenges and deliver meaningful solutions for people living with SMA.
- What challenges do they face on a daily basis?
The challenges facing our SMA community are so diverse and far reaching – showering, getting in and out of the car, getting something off a high shelf, going to the supermarket. All of these actions we take for granted, are extremely difficult and near impossible for someone living with SMA.
- What are you asking people to do?
If you are living with SMA, or have a family member of friend living with SMA – send us your challenge! Simply record the challenge you are facing on video and email it through to firstname.lastname@example.org
- Where can people go for more information?
I encourage everyone to jump on our website or Facebook page to learn more about the challenge. Visit smaaustralia.org.au or search “SMA Australia” on Facebook.
About the expert
Julie Cini, founded Spinal Muscular Atrophy Association of Australia after losing both of children to SMA in 2005 and 2007. In her life, Julie has faced incredible heartbreak including the tragic loss of her partner who was hit by a car in 2006, and her strength and determination has been channelled into ensuring those with SMA have the support, and resources they need to live their best possible lives.
Julie strongly believes in creating a future that encourages empowerment, resilience and compassions and by sharing her experiences, she hopes to encourage others to make that difference. Julie continues to leave legacies and in 2018 she successfully campaigned with the SMA community to have new treatments and a pre-genetic screening program made available for patients. Most recently in 2019, she successfully advocating for a new born screening heel test to be available for all babies at risk.
Image description: Headshot of Julie with short, brown and wavy hair, wearing a patterned blouse and necklace.