Disability Pride Month may be over (HOW is July already done?!), but that just means it’s time for August and SMA Pride / Awareness Month. (I’m going to refer to it as SMA Pride Month from here on out, but want to acknowledge that it began as SMA Awareness Month.) Since the Q & A post for Disability Pride Month went over so well last week, I thought that I’d do a similar one about all things SMA.
I made up the questions for this post, but I’d love to hear any questions you have! Please leave them in the comments for future SMA posts this month!
What is SMA?
SMA – Spinal Muscular Atrophy – is a genetic, progressive, neuromuscular disease. It’s recessive, which means that both of my parents are carriers for the gene, though they aren’t affected themselves, and there’s a 1 in 4 chance that any kids they have would have SMA.
There are different “types” of SMA, but they’re really just related to the age at diagnosis and severity. Type 1 is when you’re diagnosed as an infant – it’s the most severe, because the loss of abilities and strength happens at a super young age. Now, many states have added SMA to their newborn screening, which means babies are diagnosed really soon after they’re born – and they can start treatment sooner! Type II is what I have – it’s typically diagnosed sometime in childhood. I was around 2 years old when I was diagnosed, after my parents noticed I wasn’t hitting the typical developmental milestones. It was before easy genetic testing, so I had a muscle biopsy done to get my diagnosis (I still have the scar to prove it!). Type III is diagnosed sometime in adulthood, and is the least severe. Typically, people with Type III can walk (or used to be able to walk), though of course it varies. Basically, the types are broad categories and there’s LOTS of variation within each.
Are there any treatments for SMA?
Yes – there are! For most of my life, there weren’t any treatments that were actually for SMA. There were medications/therapies/equipment that treated the effect that SMA had on my body, but didn’t do anything to actually treat SMA. But relatively recently, that changed, and there are now THREE FDA-approved SMA treatments.
Spinraza, a spinal injection done every few months, and Evrysdi, a daily oral medication, both help to stop/slow the progression of SMA. Some people also see gains, too, but it’s not guaranteed. Since it slows progression, the younger you start taking the medication, the better. Zolgensma is the final approved treatment, and it’s actually gene therapy – it replaces the function of the non-working gene. It can only be given to children 2 years old or younger. I’m honestly the least knowledgeable about this treatment because I knew I wouldn’t be eligible for it.
I’ve been taking Evrysdi since April – you can read the post I wrote about the experience.
What does SMA mean for my life?
I need help with a lot of basic things that most people take for granted. The things you do every day without even thinking about them – getting in and out of bed, using the bathroom, taking a shower, getting dressed, blow-drying my hair – I need help with all of those things. It might sound like a lot, but it’s pretty normal for me!
And I want to be clear that just because I need help doesn’t mean that my life is sad, or unfulfilled! There’s also a lot that I can do. I have a job, I write here, I’m really involved in the community here in Pittsburgh and in the disability community (in Pittsburgh and online). I love checking out new restaurants and coffee shops with friends, movie nights on my patio, and playing with my dog Lily.
Bonus question: Have you read How Lucky? There’s a character with SMA!
I’m adding this because I got it a few times during my Instagram Q & A. I haven’t read it yet but it’s on my list!
Don’t forget to leave any SMA-related questions or things you’d like to learn more about in the comments!!