Celebrating Rare Disease Day

Today is Rare Disease Day – a day that acknowledges and celebrates the estimated 300 million (!!!) people with rare diseases. SMA is one of those diseases, so I’m one of those 300 million.

Growing up, having SMA really did feel rare. I never felt totally alone, because my sister also has SMA, so I always had someone to talk to and share my experiences with. But outside of her, I only knew a few other people with SMA, and I wasn’t really close to them at all. It can be strange growing up with a rare disease. In some ways, it’s totally normal – it’s the only life that I’ve ever known, and so it doesn’t feel odd or weird to me, it just is. But in other ways – it’s not like I didn’t know that I was different!

But SMA also felt rare medically. For the vast majority of my life, there was no treatment for SMA. You could kind of treat the symptoms, or the side effects – breathing equipment to help my lungs, physical therapy to stretch my muscles, spinal fusion surgery in middle school to fix my worsening scoliosis – but nothing actually treated SMA itself. And because SMA is progressive, it meant that over time, I’d lose more and more strength and abilities. It always happened slowly and gradually – so much so that I wouldn’t often even notice what I had lost until years later. It was an afterthought in the back of my mind, like – oh, huh, I guess I did use to be able to raise my arm above my head – but with no memory of when, precisely, that had changed. Just this constant looming specter over my life. I didn’t think about it often, but it was always there.

In the last few years, though, things have changed for me. The first thing to happen was that I found an incredible SMA community online. From people I now call friends to people I admire from afar, finding that community has been SO important to me. It’s not even about having a place to go to for advice (although that’s nice, too) – but being able to talk to other people who have the same shared experiences, and not needing to explain or teach, is just such a relief. Finding people like Alyssa, like Heather, like Shane Burcaw, like Alice Wong… it was life-changing.

Medically, things have changed majorly, too! We went from having zero treatment for SMA to having three FDA-approved options! I started taking Evrysdi in April last year, and it was such a milestone for me. There’s no guarantee I’ll get back strength that I’ve already lost, but knowing that I don’t have to worry about when I’ll stop being able to feed myself, or have a sip of my coffee, or drive my wheelchair? That’s so, hugely important to me that it’s almost impossible to put into words. Starting Evrysdi has been life-changing, too.

I’m happy to celebrate Rare Disease Day, but also to celebrate the fact that because of the community I’ve found, I don’t feel rare anymore. And I hope that everyone else celebrating Rare Disease day today gets to experience that, too.

Leave a Reply