Rare Disease Day and SMA

Every year on the last day of February, we celebrate Rare Disease Day – a day dedicated to raising awareness, engagement, and support for those living with or caring for someone with a rare disease. My disease, Spinal Muscular Atrophy (SMA), is one of those rare diseases! I put up an Instagram question box yesterday, and am answering a few of the questions that came up. I’ll also be answering more on Instagram, so make sure you’re following along there too!

How is it possible that some doctors don’t know about SMA?

I loved getting this question, because it means that me sharing about my life and SMA has helped more people learn about it – enough that they find it commonplace! That’s seriously amazing. But because SMA is a rare disease, the reality is that most doctors aren’t familiar with it. When I’m in a healthcare setting with a new provider, I’ll often say that I have SMA, a neuromuscular disease, and that it’s similar (but not the same as!) Muscular Dystrophy.

Sometimes, this will help them understand a little better. And sometimes, they’ll pretend to be familiar but ask questions that show me they don’t actually have a clue (like the ER doctor who asked me if I had the type of SMA where I still had feeling in my legs, which is… not a thing. SMA doesn’t affect sensation in the legs! People with SMA have full feeling in their body). But the reality of living with a rare disease is that it’s not extensively covered in medical school or medical textbooks. Which is why I, as the patient, am often the expert in these cases.

Honestly, it’s not the fact that doctors don’t know about SMA that bothers me. It’s when they don’t know about SMA but still tell me that I’m wrong about my knowledge and experiences! I wish more doctors saw patients as part of the healthcare team – that we could work together, each sharing our own areas of expertise, to come up with the best treatment plan. And I do have some doctors who are great about this! It’s just more the exception than the rule right now.

How is treatment going?

I’ve been on Evrysdi since 2021 – you can read my post about starting treatment here. Even now, years later, I’m a little bit in shock and so grateful that a treatment for SMA even exists, because it’s not something I ever thought would happen in my lifetime.

On the whole, treatment is going well – I feel stronger and less tired at the end of the day, and I’m much less worried about losing the strength and abilities that I have now, since the treatment is mostly intended to stop progression in adults. But it hasn’t been completely smooth sailing! Because the intent of the treatment is to stop progression, most of the studies are done on kids, because it’s much easier to track those milestones. For adults like me, who have already had significant progression, it’s much harder to definitively study. So while we know Evrysdi is safe for adults, the rest of it is still a little murky.

Which is why last August, I found myself feeling almost like I had before I got my feeding tube years and years ago – and I realized that I had unintentionally lost some weight! After doing some research in Facebook groups and talking to a few other adults, I learned that many of us actually had to increase calories and protein while on Evrysdi. So I talked to my doctor, adjusted my feeding tube rate, and slowly but surely started to feel better again. This is exactly why it’s so important to be an active part of your healthcare team as a patient – and why I think it’s so important to find a community, whether in person or online.

Can you talk about the transition from pediatric to adult care providers?

I wish I had a better answer for this, but honestly, it’s tough. Because so many people with SMA get diagnosed as young children, I’ve found pediatric providers much, much more knowledgeable than those on the adult care side. So it can be a little bit challenging when switching to adult providers, because they don’t have the same depth of knowledge.

Mostly, I recommend asking around for recommendations. Ask your pediatric providers, ask your community, and ask yourself if you feel comfortable with the new provider! It’s okay to hop around a bit until you find the right fit for you and your care. Often, I find a doctor doesn’t need to be an SMA expert, but just needs to be willing to listen, do a little research, and think creatively.

And I highly recommend not waiting until the last minute! I know the thought of finding new providers can be so daunting when you feel comfortable and understood with your current care team. But pediatric hospitals will only admit you for so long, and you don’t want to be in a situation where you’re in the ER, need to be seen, and don’t have a relationship with any adult provider yet – that will just make an already stressful situation one million times worse. If you start early, you can make sure you find the right fit with the right doctors before anything serious comes up.

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