The Evrysdi Chronicles: Waiting for a Diagnosis

by Brianna Albers | October 12, 2020

Let me set the scene.

It’s 9 a.m. I’ve been awake since 6. My poor, sweet dad has been up since 5:30. We’ve been preparing for this gut punch of a medical appointment for weeks, but even so, neither of us are particularly thrilled with our lives right now. I want nothing more than to crawl back into bed.

We’ve been sitting in the waiting room for half an hour. Which is fine! I’m used to long wait times. But I’m especially congested today. I meant to take some Advil before we left, but it slipped my mind, which means I’m in for a long day of sinus pressure. I want to say I’m used to the pain, but it still makes me grumpy.

I sigh. I refresh Instagram, because I’m weirdly obsessive about watching every Instagram story. The clinic is eerily quiet. Is it always this empty in the morning? Or is it more COVID-19 nonsense? I keep flashing back to early mornings at the hospital, waiting for a nurse to call me back for pre-op. My mind knows that I’m here to a see a neurologist in the hopes of starting Evrysdi (risdiplam), but my heart thinks I’m headed for certain anesthesia-related doom.

Still nothing. Instagram is giving me FOMO. I switch to Twitter, because one of my Q4 goals is to tweet once a day. My timeline is full of political angst. I sigh again, closing the app.

I’m just about to open a book when they call me back.

I haven’t seen a neurologist in years. I have no idea what to expect, so I sit through the intake interview, wishing the developers of medical software would figure out a way to sync my medication list across providers.

Are you still taking fluoxetine? Yes. Cetirizine? Yes. A medication from years ago that you can’t spell to save your life? No, not anymore.

What do you like to do?

You’d think I’d be used to this question after 25 years of medical appointments. But it still strikes me as odd. What does that have to do with anything? I get the questions about smoking, recreational drug use, and sexual activity. But the leisure/recreation question always catches me off guard.

I do what I can. Isn’t that enough?

I stumble through my answer — I read, watch TV, play video games, hang out with friends. Dad mentions my book, and my master’s degree in community care, which piques the nurse’s interest. Disabled folks with graduate degrees really aren’t that rare, but we sure are treated like a special case.

Finally, the first of two doctors comes in. When I mention Evrysdi, he gives me a blank look. In his defense, I do butcher the pronunciation. But it raises more than one red flag. My dad looks at me, and I shrug, because it’s 9:15 a.m., my head is pounding, and I’m more than ready for my requisite post-appointment Bundt cake.

The doctor looks me over. Tests my nonexistent reflexes. Excuses himself, purportedly to fetch Doctor #2. Finally, after 15 minutes, both doctors step inside.

Doctor #2 gets straight to the point. “I’m not saying you don’t have SMA, but we need to verify your diagnosis before proceeding.”

What about the genetic test I had when I was a baby? They can’t find the paperwork. Doctor #2 says it again, and again, and once more for good measure: “I’m not saying you don’t have SMA, but …”

My mind recognizes that medical records are a mess. Insurance will deny my claim if I don’t have evidence of my diagnosis. It’s best practice, probably, and I’m overreacting because I’ve been up since 6 a.m. But my heart feels vaguely like I’m being gaslit. Of course I have SMA. What else could it be?

Doctor #2 ends the appointment by referring me to a genetic specialist. He’s not familiar with SMA, so he’s going to transfer me to the pediatric side of the clinic. I’m disappointed — I’ve been waiting for an oral medication for years, ever since Spinraza (nusinersen) was announced and I had to accept the fact that my spinal rods pretty much precluded me from treatment.

And I’m more than a little annoyed. I got up at 6 a.m. for something that could’ve easily been done via video call. No one can find the results of my genetic test. I’m going to spend the next several weeks being shuffled between medical professionals, only to get up at 6 a.m. for another in-person visit that probably could’ve been done virtually.

Doctor #2 says a genetic specialist and a scheduler from the pediatric side of the clinic will be in touch. It’s been a week and a half, and they still haven’t found the results of my genetic test. I haven’t received a phone call from the pediatric side of the clinic. I still have a sinus headache, and I’m still tired.

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