I have been waiting to write this post for SO long that it almost feels overwhelming to actually sit down and do it. A little over a week ago now, I officially started taking Evrysdi, one of only three FDA-approved treatments for the disease that I have, Spinal Muscular Atrophy (SMA). It has been something that I have been working towards, in some way or another, for YEARS, so it’s extra-surreal to think it’s finally happening for me.

A little background – SMA is a genetic, progressive neuromuscular disease. This means that, over the years I’ve lost strength I used to have, and the ability to do things that I used to be able to – often without even realizing it until after the fact. SMA is also officially a rare disease, which means that treatments and research for it are pretty limited. For most of my life, there was no treatment – just therapies treating the symptoms, but nothing that actually treated SMA itself. Then at the very end of 2016, the FDA approved the first-ever treatment for SMA – Spinraza, a treatment that has to be injected into the fluid surrounding the spinal cord. Spinraza isn’t a cure, but is a treatment – it stops or slows progression of SMA, and some people do find themselves actually gaining strength.

It was incredibly exciting to learn about, but my excitement was dashed pretty quickly when I learned that our local neurology clinic (of a large, prestigious academic center!) had decided, point blank, to not treat adults, deeming that the risks weren’t worth the benefits. Now, I will say that the procedure is not risk-free – many adults with SMA have spinal fusions because of issues with scoliosis when we’re young; my spinal fusion surgery was done in middle school. That can make a spinal injection a bit of a trickier procedure, but I had “anecdata” from similar adults all over the US who were successfully getting treated with Spinraza.

I tried to discuss it further with my neurologist, but didn’t really feel like I was getting anywhere – she didn’t want to budge. It seemed impossible to me to help her to understand that to me, any potential benefit WOULD be worth the risks – that I didn’t think her making a decision about MY quality-of-life was fair, or right. I didn’t know how to make her understand the fear that comes along with living with a progressive disease, of not knowing what you might lose next, and when. Would it be my ability to lift my fork to my mouth, or to drink my coffee on my own? Would I need someone to start doing my makeup for me, or would I need to learn to use voice-dictation software because I’d no longer be able to type these posts? I already rely on others for so much, and I cling to every shred of independence HARD. The peace of mind that would come with knowing I could push these kinds of fears to the back of my mind is invaluable; it’s beyond words.

I felt like I was stuck. The thought of having to travel a few hours every few months for a potentially challenging procedure wasn’t really appealing to me – there’s enough logistical stress in my day-to-day life, the thought of adding something so huge as this just seemed incredibly overwhelming. But I wasn’t sure how to “appeal” her decision, either, and no one in the SMA community here in Pittsburgh seemed to know of any other neurologists that they could recommend. (I wrote a post a few years ago about all of this; you can read it here.)

And then in the middle of being stuck, I began to hear about a new drug that was in the middle of clinical trials – risdiplam. Risdiplam seemed to function a lot like Spinraza did – it slowed/stopped progression, and people in the trials were seeing gains in strength and abilities, too. And the best part about it was that it was a daily, liquid, oral medication. Something that could be taken at home, by yourself, without needed to go get any procedures done. I was very, very intrigued, and began to follow it’s progress through clinical trials more closely, and excitedly celebrated when Evrysdi (the brand name) was approval by the FDA last year. Then I got to planning how I could get access to it.

I decided to first try to start with my PCP. I’m so lucky to have a supportive PCP – he may not be an expert in SMA, but he’s willing to research, to talk to other clinicians, and to listen to me and my experiences. That sounds like it should be a given, but it’s actually a bit of a rarity with a rare disease, and I’m very grateful for it. He was willing to start the process, but unfortunately, my insurance required the script to come from a neurologist. So, it was time to pivot again. I was talking to another person I know with SMA in Pittsburgh who saw a neurologist in a different health system, but before I got in touch with them, the liaison at the pharmaceutical company was actually able to give me the name of two other neurologists in my health system who were already treating adult patients! (The pediatric vs. adult divide in treatment of rare diseases, or at least my own experiences with SMA, is very real.)

I couldn’t believe that there were other options of providers who I could see – so happy to realize that there were providers who did value my quality-of-life the way that I did, and who supported me getting treatment for SMA. (I didn’t actually even approach my previous neurologist about starting Evrysdi, because I was so disgusted by her unwillingness to even consider my own perceptions of risk vs. benefit for Spinraza. So perhaps she would have been ok with Evrysdi, but I wasn’t interested in working with a doctor who didn’t value my own experiences and opinions on my health. And the Spinraza discussion wasn’t the first encounter with her that rubbed me the wrong way, either.)

From there on in, the process was relatively smooth and quick! Getting insurance approval is never fast, of course, but it was relatively quick nonetheless – only a few months from my first virtual appointment with the neurologist. Once I got the call that I had officially been approved, I actually had the Evrysdi in my hand one week later, to the day. Taking the first dose was so incredibly surreal, I don’t even know how to really explain it. To go for years and years and years of your life not having any sort of treatment, and then having one that you just take at home, no big deal – it’s just such a cool thing, and one that I just can’t quite wrap my mind around.

I’m keeping my expectations low and realistic. As a very (very) basic scientific explanation of how it works, SMA affects two main genes – the SMN1 gene, and the SMN2 gene. The SMN1 gene is the “main” one, and the SMN2 is the “backup;” both genes produce the SMN protein that people with SMA don’t have enough of. Evrysdi boosts the production of the SMN2 (the backup) gene. So different people are affected by it differently, and kids see the most benefit because they haven’t lost as much yet, so they have less to regain. And I’m also being realistic about the timeline – I know it could be months before I really start to notice any changes, and some people have said they really started to notice things after a year! It’s a slow process, and this is a medication that I’ll be on for the rest of my life. So there’s no rush!

But overall, I’m feeling incredibly hopeful. I have noticed that when I do my daily Headspace meditation (more about that in this post), it feels like taking deep breaths comes a little bit easier to me – I probably wouldn’t have even noticed it without my daily Headspace habit! Even though it’s something small, it feels like a really good sign. I can’t wait to share more with you in a few months!