By Rachel Delaporte · Originally published 12 May 2021
Original article
Rachel Delaporte is 42 years old and has Spinal Muscular Atrophy type 1. She lives in Perth with her two fur babies and creates bespoke gifts for her hobby craft business Rach's Crafty Creations.
Spinal muscular atrophy is the biggest genetic killer of infants before the age of two.
Sounds scary right?! Well, it certainly is, and I live with it every day, like many others in Australia and all over the world.
I was diagnosed with SMA Type 1 at nine months old. My parents were told that I would not live past the age of 7.
Understanding what Spinal Muscular Atrophy is
It is a genetic disease where the signals that control muscle movement from the brain do not get through to the spinal cord, resulting in the muscles becoming much weaker and atrophied.
SMA affects every single part of my life. I need assistance from support workers to do everything from personal care to domestic help and community access. Thankfully with the support of NDIS I receive 24-hour care and live independently in my own purpose-built department of housing unit in Western Australia.
Fortunately for the SMA community, there are many new treatments available to help slow or stop the progression of the disease. However, these treatments aren’t available to anyone over the age of 18 in Australia. This is truly disheartening for every adult in Australia with this condition. It is extremely tough, knowing every day that you are getting weaker, and there are treatments out there, yet we are not able to access them.
[Clickability update, October 2026:
Adult access pathways have changed. Services Australia’s current SMA guidance includes adult authority applications for nusinersen or risdiplam. Eligibility is specific; discuss it with a specialist rather than assuming everyone qualifies.
]
Risdiplam on compassionate grounds
Recently my neurologist contacted me, asking if I would be interested in taking Risdiplam on compassionate grounds. This is an oral medication that is taken once a day, that has shown to slow and stop the deterioration of the disease. Some people have even noticed a gain in strength.
My neurologist had to jump through many hoops in order to access this drug for 3 of her patients in Western Australia. There were many criteria that we had to meet such as never have walked, and not being ventilator dependent.
It is bitter-sweet feeling as if I have won the risdiplam lottery, yet many of my friends with this disease cannot access it. I collected my first prescription of risdiplam on Thursday 28th January and started taking it the very same day.
Within 2 days I noticed changes. I was absolutely gobsmacked that changes occurred so quickly. I have more strength in my hands and arms, yet only slightly, but for me it's huge. I have so much more energy and am able to accomplish a lot more during my day.
[Clickability update, October 2026:
This is Rachel’s reported experience, not an expected treatment timeline or guarantee. TGA information about Evrysdi provides regulatory context; individual benefits, risks and monitoring require the treating specialist.
]
My progress
I have now been on risdiplam for a little over 3 months, and while I still have many days where I feel fatigued, I'm able to do things I haven't been able to do in years. I can brush my teeth independently, feed myself easier, pick up my phone from a high table and even sit on a normal couch for movie dates with my partner.
About 8 months ago I started up a little hobby craft business selling personalised gifts and diamond art. I'm finding I have a lot more stamina than I used to, and able to finish my craft projects faster and with more precision.
My hope for the future is that this life changing medication becomes available to everyone with Spinal Muscular Atrophy. It has completely given me a new lease on life, and I feel truly blessed to have been given the opportunity to access it.
Clickability editorial update: October 2026
Take the article as a prompt for your own specialist questions
Ask whether any current treatment pathway is relevant to your SMA type and history, what assessment is needed and how response will be monitored. Explain the daily activities that matter to you and seek clear information about possible benefits and risks. Do not change medication on the basis of another person’s story.
Keep clinical treatment and disability assistance distinct. Current PBS guidance concerns medicine access; an NDIS plan has a different role in everyday support. A historical mortality statement is not your individual prognosis.
Support the conversation without expecting the same response
Ask what assistance the person wants with appointments, questions and information. Notice practical changes they want to discuss, but do not measure them against Rachel’s timeline. Review daily support arrangements with consent while the clinical team manages treatment.
Questions readers ask
Are SMA medicines unavailable to every adult?
No. Current adult PBS pathways exist, subject to criteria. Official guidance
Does Rachel’s response predict mine?
No. Treatment response and monitoring are individual. Official guidance
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