August is SMA Pride / Awareness Month. Each week, I’m sharing a post about what my life with SMA is like.

SMA is (officially) a rare disease – it affects about 1 in every 6,000 babies born around the world. That “rare” signifier means a lot of different things. Obviously, rare means rare in number – you may be the only person you know with your disease. Rare often also means that there aren’t many (or any) treatments available for your disease. And for me, especially when I was younger, rare sometimes meant that even doctors didn’t necessarily know much about SMA.

I was born in 1988 – back then, there was definitely less awareness of SMA than there is now, both in general and in the medical profession. When I wasn’t hitting my developmental milestones like crawling, my parents took me in to the pediatrician, only to be told that I saw just a slow learner. They actually had to go pursue a second opinion to get me diagnosed officially. After my official diagnosis, we did get connected to the clinic at the Children’s Hospital that specialized in neuromuscular diseases, and they were wonderful at helping us learn more about SMA. But outside of that clinic, things were still dicey. People just didn’t really know what SMA meant, and more importantly, what it meant in terms of emergency medical treatment.

For example – when my sister got her braces tightened once, her teeth were INCREDIBLY sore – just so, so painful – and she didn’t eat much at all for a few days. What no one had told us was that for people with SMA, going too long without enough nutrition could be really dangerous. We go into metabolic acidosis really quickly – basically, your body doesn’t have enough to feed itself, so it starts breaking down your own muscle mass to convert into energy. When my parents took my sister to the ER, they were asking if she had drank windshield wiper fluid based on the results of her bloodwork! It took a while to get the right team to see her to realize that this was an SMA thing. And this was at the same Children’s Hospital where the neuromuscular clinic was!

Going from pediatric to adult care was a shock, too. SMA is typically considered a childhood disease (morbidly, historically many children with SMA did not live to adulthood, though that’s changed now), and so the number of specialists familiar with SMA is much smaller in the adult medicine field than the pediatric one. While I do think there’s more awareness now than there was 10 or 20 years ago, there’s definitely still a lot of room for growth. During an ER visit a few years ago for abdominal pain, the physician asked me if I had the type of SMA where I could still feel my legs… but there is no type of SMA that exists where you can’t feel your legs!

And sure, these seem like annoying or amusing stories. But it’s a lot more than that. When something goes wrong – and inevitably, with SMA, something is bound to go wrong – you learn that you have to be your own expert and your own advocate. After we learned about the risk metabolic acidosis, every single time I had to go to the ER, I had to really stress the importance of getting nutrition in. I go in with the assumption that they know nothing about SMA, and am incredibly explicit about my needs. I’ve really learned to advocate for my needs loudly, repeatedly, and with no shame.

Most of the time, that works for me (and I say this knowing I have an incredible amount of privilege – not every disabled person is believed the way that I usually am). But when I don’t know what is wrong, it makes it a lot trickier. I don’t necessarily know if my issue is SMA related or not, but going into an ER, there’s a high likelihood that I know more about SMA than the doctor who comes in to check on me. So I do a lot of my own research, reaching out to other people with SMA on Instagram and Facebook, and then arming myself with that knowledge when talking with the medical team. It’s why I think that finding a community, whether in person or online, is so important. It can be a lot to deal with when you’re already not feeling well and stressed and anxious about your health, and having other people to talk it out with – and to give you confidence to advocate for your own needs – is so helpful.

I know that I’m talking about advocating for my own needs from an SMA perspective, but honestly, I think this is good advice for anyone to remember. No one knows your body, and what you’re feeling, better than you. If you think that something isn’t right, you should absolutely advocate for yourself! Doctors are professionals, and they are medical experts, but they’re not experts in you. It should always be a team effort and a conversation. My experiences have really taught me that speaking up for my needs is valuable, SMA related or not.

I do think that slowly but surely, medical practitioners are becoming more familiar with SMA. I have a really great PCP who is willing to do his own SMA-related research when necessary, and reach out to other specialists, too. And obviously, I’m not afraid to do my own research and bring up my own thoughts and suggestions! Like I said, it’s a team effort. Things are getting better. But needing to be your own medical expert and advocate is just one more thing that I have to constantly keep in mind as part of my life with SMA.