SMA Stripes – Rare Diseases Day 2019

Some of you may know this already, but I have Spinal Muscular Atrophy (SMA). SMA is classified as a “rare disease,” which means that it affects fewer than 200,000 in the US at any time. Today, February 28, is Rare Disease Day – a day that celebrates and brings attention to those affected by a rare disease.

I haven’t written about SMA specifically for a while, and I thought that today would be a great day for a refresher post about me and my life! SMA is a genetic (recessive), progressive neuromuscular condition. Both my parents are carriers for the gene that causes SMA, but neither knew it – there was no family history of it. My sister and I both have SMA, and we both have Type II, which means childhood-onset. Type I is the most severe, and usually diagnosed as an infant. I was diagnosed right around 1 year old, because my parents noticed that I wasn’t crawling. Progressive means that it will get worse over time, but it’s a bit of a murky thing… it’s not really known when the losses will happen, or how much will be lost at any time.

I got my first wheelchair when I was three years old, and it was a pink and purple Mattel-branded Barbie wheelchair. I loved it, and for many years I was known as “the girl in the Barbie wheelchair!” I eventually graduated to a more grown-up wheelchair, though, and it’s crazy to me how much technology has changed since my Barbie wheelchair days. My chair now has a USB charger where I can charge my phone, and tells me what speed I’m going and how many miles I’ve driven! It also costs as much as a nice car.

Having SMA means that I need help with a lot of things in my day-to-day life. My whole “morning routine” relies on someone else helping me get out of bed, use the bathroom, take a shower, get dressed – luckily I can still do my own make-up and blow dry my own hair right now, because that would add another layer to my morning.

I still maintain my independence where I can, though. Even the little things feel really important when you rely on others for so much! I go to work every day (although I do need to be driven there), and spend a lot of my time just like anyone else – going to dinner with friends, binging Netflix shows, or making one-too-many Starbucks runs during the work day. 

I don’t like to compare my life to people without SMA, really, because it’s hard for me to compare to something I’ve never known. SMA affects my life a lot, but it’s still the only life that I’ve ever known, and I’m happy with my life! I do wish it were easier for me to do things, and for me to be independent, but I don’t spend my time dwelling on that.

I’m so excited to be able to share awareness of SMA with this SMA Stripes campaign on Rare Disease Day! I’d love for you to join me – it’s easy! You can access the custom filter on Facebook by:

  1. Start a story on Facebook
  2. Click on the “?” to find and select the SMA Stripes filter
  3. Take a photo / video using the SMA Stripes filter
  4. Save the photo, or share to your news feed/as a story

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