August is SMA Awareness Month.

I figured I can’t be a person living with SMA and not at least acknowledge SMA Awareness Month while it’s on. If you don’t know what SMA is- that’s fine, let me give you a brief rundown.

Also known as a childhood motor neurone disease, Spinal Muscular Atrophy (SMA), is known as a “common” rare disorder. Estimated incidence rate varies wildly, but is approximately 1 in every 6,000 to 1 in every 10,000 live births. SMA causes progressive muscle wasting of voluntary muscles affecting abilities like walking, standing, and also muscles that affect sitting, breathing and swallowing. There are 4 types of SMA, which vary in severity and onset of symptoms. The most common form and most severe, is Type 1 and comprises 75% of all diagnosed cases.

“The landscape of SMA is changing rapidly”

I have SMA and I’m about to undergo genetic testing in the next few months to find out what type I am. I am expecting that I am Type 2 or Type 3, based on how SMA has progressed for me. To be honest, I don’t really wanna knuckle down too much in this article about what having SMA has been like for me in terms of how it’s developed and my day-to-day living – that might be something to write about in the future. I’d rather use this time to talk about some important things happening for SMA, that I think should be talked about during Awareness Month.

The landscape of SMA is changing rapidly. In 2017, the first treatment known as Spinraza (nusinersen) was approved by the FDA. This drug has been shown to not only halt progression of SMA, but in some cases can help some individuals regain abilities they previously lost. Biogen, the pharmaceutical company that developed the drug, have previously stated that research has shown that access to the drug can “provide a meaningful impact” in people’s lives with SMA.

​Before this drug, SMA had no options for treatment, and SMA was known as the number 1 genetic killer of children before the age of three in the United States; that is a statistic that is hopefully now changing. Spinraza has not only opened up a world of possibility for management of the progression of their SMA, but has opened the door to more treatments. Currently, there are human clinical trials for a gene therapy called Zolgensma and an oral drug called Risdiplam.

“No everyday person with SMA can access these drugs without huge financial cost”

The development and approval of these drugs opened up a world for me that a) I never thought possible in my lifetime and b) access to Spinraza nailed home to me, how easily access to medicine can divide the rich and the poor, and the real-world impact of that. All of these drugs are costly, priced in the hundreds of thousands of dollars per dose. No everyday person with SMA can access these drugs without huge financial cost.

​In Australia, you can only receive government funded access to Spinraza if you’re under the age of 18, meaning if you have SMA and you’re over 18, you can’t be funded access to the drug. SMA Australia have done a heck of a lot of lobbying to pressure the PBAC and the Australian Government to change this, but this unmet need has lit a fire in me that I wasn’t expecting.

I’ve always been an idealist and I’m pretty easy-going until you hit a moral issue that I care about. In this instance, I can’t seem to let go of the fact that people who can’t financially afford treatment won’t be getting treatment. It feels like something that should be happening in a dystopian movie, not in real life. It genuinely upsets and angers me when I see posts of parents in developing countries asking for the best way to get their loved ones access to treatment, knowing that in their own country, there’s little way to do this. The fact that it’s happening in Australia right now is not something I can let lie. This drug could be changing lives, right here, right now. I’ve done whatever I can to push awareness about it forward (you can read one instance here) and next month I’ll be traveling to Canberra to be part of the group lobbying for access to treatment directly at Parliament House.

So while there’s a lot of things to think about SMA and SMA Awareness Month, right now, my focus is there, on that unmet need, and I hope that next August, during Awareness Month, I’ll have better stories to tell about access to treatment in Australia.