Wednesday, February 26, 2020

Rare Disease Day: SMA Spotlight

Every year at the end of February, I like to do a refresher post on SMA in honor of Rare Disease Day, which is February 29th this year.
Spinal Muscular Atrophy, or SMA, is one of the many rare disease that we recognize as part of Rare Disease Day - there are over 6,000 diseases that are categorized as rare! But SMA is the one that affect my life, so it's the one that I'm going to highlight. I want to just give a little bit of a reminder of what SMA is, and how it affects my life.

SMA is a recessive, genetic disease, which means that both of my parents are carriers, and there is a 1 in 4 chance of any kids they have having SMA. Both my sister and I have SMA, but in some families, some siblings are affected by SMA and others are not - it's just the luck of the genetic draw. SMA also has different "types," which really just indicate the severity of the disease. Both by sister and I are Type II, which is kind of the middle of the road. People with SMA Type I are affected as infants, and people with Type III are usually not diagnosed until later in their lives, as adults. I was diagnosed a little after my first birthday - not an infant, and not an adult.

SMA is also progressive, which means it gets worse over time. When I was younger, I definitely had more arm strength - never a lot, but I could, for example, raise my hand in class. Now, raising my hand over my head is something that I definitely can't do any more. And the rate of progression seems to be pretty variable - there's no way to know when, or how much, my SMA is going to get worse. It seems like it will stabilize for a while, and then slowly get worse... but so slowly that it's not something that I really realize until later.

And of course, having SMA means that I need help. Getting out of bed, using the bathroom, getting in and out of my wheelchair, taking a shower, brushing my hair, brushing my teeth... all things that I need help with. Basically, everything that most of you do without a second thought, I can't do on my own. So my definition of independence is probably a little different than yours!

But all in all, I think what having SMA has taught me is that people are adaptable, and people are resilient. I don't spend my time being sad for myself because I have SMA - it's just my life, and it's the only one I've ever known.

Click here to find out more about Rare Disease Day, and click here to learn more about SMA.

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