Everyone and their mother is talking about Zolgensma (AVXS-101). Just like what happened with the release of Spinraza (nusinersen), people everywhere are sharing links to news stories on the groundbreaking new medication. I feel more or less the same as I did in 2016 when Spinraza first hit the market. It’s surreal. Part of me doesn’t believe it, or perhaps it’s just that a piece of me is scared to trust it.
I’ve always joked that I wouldn’t know how to function as a regular, run-of-the-mill, healthy adult. I know my way around prescription refills and can advocate for myself in a pinch, but when it comes to things like baby showers and the IRS, I’m clueless. I don’t even know how to tie my shoes. Can you imagine setting a 23-year-old loose on the world without basic life skills? I barely passed home ec.
It’s fun to think about cures, what they represent, the life I might’ve had if it weren’t for that pesky little SMN gene. Maybe I’d be a world traveler. Or perhaps I’d be exactly who I am today with some additional upper-body strength. Maybe I’d have the apartment of my dreams with floor-to-ceiling windows and lots of plants or I’d be married with kids.
There are all sorts of possibilities, and it’s entertaining to run the different scenarios, but at the end of the day, they are just hypotheticals. I told my dad about Zolgensma, and once the magnitude of it sank in, he immediately jumped to a full-blown, irreversible, side-effect-free cure. “Everything would change,” he said, to which I replied, “I’m not going there yet.” I don’t see the point.
Zolgensma is amazing. So is Spinraza. I don’t mean to downplay the importance of these treatments, because they are life-changing. I know people who have benefitted greatly from Spinraza, and I do not doubt that Zolgensma will be similarly helpful. They point to the future of neuromuscular disease, which is to say they offer hope. But I can be excited and wary at the same time. I can look forward to future developments and embrace the reality of my life as it is right this second.
A few weeks ago, my counselor asked me how I thought therapy was going. I’m nearing my one-year anniversary of starting acceptance and commitment therapy, and I was more than happy to tell her that I’ve noticed changes — and big ones at that. We then talked about what I wanted to focus on going forward. I thought about it briefly, but I pretty much knew the moment she asked.
I’ve written previously about finding a balance between optimism and realism, and with the announcement of Zolgensma, I find myself in that same, worn-out conundrum. I would love to walk, have a “normal” life with a “normal” body and a “normal” social life. I don’t see any harm in dreaming of those things, running the different scenarios, imagining myself as the able-bodied figure skater I wanted to be as a kiddo. But at the end of the day, a dream is just that. And while I’m dreaming, life is passing me by.
I don’t want to have SMA. And maybe someday I won’t. Perhaps Zolgensma will be approved for adults with SMA and gene therapy will change my life. I’m not discounting that possibility, but I’m also not counting on it. All I have is this moment — this body, weak and skinny — but somehow, against all the odds, alive. And that, miraculously, is enough.
Mary Oliver puts it perfectly: “Tell me, what is it you plan to do / with your one wild and precious life?”
Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.
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