Guest Voice: The joy of being able to grow up

Joanna Buoniconti is a writer and editor based in western Massachusetts. She was diagnosed with SMA type 2 in 2000 at 10 months old. Aside from writing, she has a book editing business and contributes a monthly column about disability advocacy to a local newspaper. In her free time, she loves playing with makeup, reading romance novels, and belting out Taylor Swift lyrics every chance she gets.

I turned 26 in June. When I was diagnosed with SMA type 2, the average life expectancy for someone with SMA was about 25 years old. I’m not the greatest at math, but by all accounts, I’ve either surpassed or am getting close to what would have been my expiration date. And this fact has been weighing on my mind a little bit.

To help this make more sense, let me fill you in on what’s been going on in my life the past couple of years. In 2024, I obtained a master’s degree in publishing and started my own freelance editing business — which hasn’t been completely fruitful yet, but persistence is key for any long-term success. Or that’s what I keep telling myself.

Last February, I had my first kiss, and a few months later, I entered into my first relationship with the same guy.

To put it bluntly, in many ways, it feels like my life is just beginning. Fortunately, now there are treatments like Spinraza (nusinersen) and Evrysdi (risdiplam) that make the life expectancy rule that once was, irrelevant.

I experienced a glimpse of what my life today would look like without access to treatment in the year and a half between when Spinraza was approved in December 2016 and when I actually began receiving the treatment in October 2018.

I was extremely fortunate in the sense that my strength was consistent for the first 16 years of my life. Anyone who lives with SMA knows that, typically, losses in strength happen in waves. One of my doctors once told me that the average span of these waves was every five years.

I was an anomaly because I didn’t experience that at all. The loss in strength that overtook my body during that time span between Spinraza’s approval and my first dose was nothing short of a tidal wave. It happened practically overnight and consisted of one loss after another. One day, I had a little difficulty raising my right arm to apply my eyeliner and mascara. A few days later, that movement was gone. And once these losses began, they didn’t appear to want to end.

At the time, it felt like I was watching my own body slowly decay in front of my own eyes.

I can still vividly remember that after my first dose of Spinraza, it felt like my central nervous system had received a dose of caffeine. I had so much energy coursing through my body. After months — scratch that, probably years — of experiencing immense physical exhaustion, it was such a nice reprieve.

Similar to all good things, though, it didn’t last for as long as I wished it would.

I am almost seven years into my Spinraza treatments, and I still receive that fragile burst of energy following each injection. How quickly it follows the procedure usually depends on how invasive the procedure is at that time.

Spinraza has granted me a lot of things that I will be eternally grateful for. But, on the other hand, I spent the first 19 years of my life knowing that I was running against a racing clock. Subsequently, I have spent the last couple of years struggling with the fact that there will come a time when I’m no longer the ingenue in every room I enter.

While part of me feels like I’ve been 30 years old for the past 15 years, another part of me recognizes that there’s an unrecognizable beauty in being allowed to physically and mentally age, as time allows.

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