August is Spinal Muscular Atrophy (SMA) Awareness month, so each year in August I like to do posts throughout the month talking about SMA. This year, I’ll be posting each week on Wednesdays with SMA-related topics. If there’s anything in particular that you’d like a post on, let me know – either leave a comment or send me an e-mail at theheatherreportblog@gmail.com.

I thought that I’d start out the month with a general post – an FAQ all about SMA.

SMA is a genetic, neuromuscular disease. Both of my parents were (unknowingly) carriers – because it’s a recessive gene, both parents have to be carriers for a child to be affected by SMA, and even then, it’s a 1/4 chance that a child will be affected. It basically affects my entire body, through the nervous system, and results in weak muscles. It’s progressive, which means the muscle weakness gradually gets worse over time. There’s really no set time frame or schedule, though, for the progression.

There are a few different types of SMA. Type I is infant-onset, and it typically progresses the fastest. Type II (what I have) is childhood-onset, but there’s a big range of when in childhood, and the severity. Type III, typically the least severe, is diagnosed during adulthood. And these are all general categorizations, but the dividing lines are vague, especially for people on the cusp when they’re diagnosed.

My parents noticed that I wasn’t meeting my milestones – I wasn’t crawling like I should have. The doctor initially wasn’t concerned, but my parents pushed for me to be seen by a specialist. Now there is genetic testing done via a blood test, but back then they did testing via a muscle biopsy (I still have a scar on my thigh, but I don’t remember it because I was so young).

Some people with SMA (especially those with Type III) are able to walk at some points throughout their lives, but I have never been able to. I never crawled, but I did kind of scoot around on my knees a bit as a kid if I had a surface to hang onto/lean on, like a coffee table. But since SMA is progressive, like I mentioned, I stopped being able to do that sometime during my childhood.

I need help with a lot of the basic things that most people take for granted. I need help getting in and out of bed, using the bathroom, taking a shower, getting dressed… anything that requires strength! But that doesn’t mean that I rely on someone 24/7, either. When I’m at work (in non-pandemic times), I’m pretty self-sufficient during the day (other than using the bathroom) and don’t have anyone there to help me. I was a fixture at my Starbucks, and went there on my own. So it’s a mix.

There are currently two FDA-approved treatments. Zolgensma is a gene therapy treatment for children under two years old (I don’t know a ton about it because I was well over the age of eligibility when it was approved). The second is Spinraza – it’s an intrathecal injection, which basically is like a spinal tap. It’s technically approved for all types and ages of SMA, but I haven’t been able to get it. It doesn’t necessarily help gain back losses (though some people have had gains), but it should slow or stop progression.

The good news, though, is that there’s a new treatment that is scheduled for a decision from the FDA later this month! It’s a daily, liquid medication, so as long as it’s approved for all ages and types, there’s a good chance that I’d be able to get it.