Hey there! It’s Nikki, Katlyn’s personal assistant. If you’ve ever emailed us, you probably got to chat with me a bit, so hello again! I’m here to write a blog post because it’s August, SMA Awareness Month.
You may remember hearing what SMA is from reading about it on our rare disease day post (if not, you can check it out here), but August is a whole month dedicated to it. A whole month about a disease not many people know about. It’s crazy though because about 1 in 40 people are carriers for the SMA gene. Being a carrier doesn’t affect your life though unless two carriers have a kid, and then there’s only a 25% chance they will be born with SMA. Apparently I’m a product of small odds. Yay!
SMA (Spinal Muscular Atrophy) is a genetic disorder that affects most muscles in the body, making them weaker. People with SMA typically get weaker over their lifespan due to muscle deterioration. For some, it happens quickly; for others, there are periods of time where it feels like you haven’t lost anything in years. Then, all of a sudden you lose something, out of nowhere. When I say “lose something”, I mean losing an ability, something you once were able to do and now you cannot. Like walking, standing, being able to hold a cup with one hand, reaching your hair to put it in a ponytail, etc. It’s so different for everyone because SMA comes in different forms.
There are 3 main types of SMA (and a few other types I know very little about so I won’t mention those since I don’t want to make an oops), and each type is characterized by the degree of severity. So, type 1 is the most severe and type 3 is the least severe. However, due to the recent emergence of drug treatments for SMA, the different types are slowly becoming obsolete. There’s no cure, but that doesn’t mean there’s no hope.
Currently, there are 3 drugs FDA approved for the treatment of SMA! One of these is for babies only and remarkably changes how their symptoms progress, and the other two are used to help stop the progression of weakened muscles. That means hopefully no more losing things for people who have access to these treatments, yay!
Ultimately, whether you’re on treatments or not, SMA sounds a bit dreary, but it’s not! Don’t get me wrong, it’s not a walk in the park (another wheelchair pun, yes), but it’s not a miserable thing. The worst part is probably being treated differently. People often walk on eggshells around me like I’m fragile or act the exact opposite and think they can ask me anything about my disability at any given time. I don’t mind talking about it at all, but context is key and my least favorite question when I first meet someone is, “What happened to you?”.
Despite SMA, I have a life, and many people with the disease do too! I drive, have a job (shoutout to KATLYN my biggest supporter), play soccer, volunteer, and do a bunch of other stuff. It can be hard sometimes, but isn’t that life?
Thank you for joining in with me on some awareness this month.