My Evrysdi Journey So Far

On December 23, 2016, I celebrated my birthday, marking a momentous occasion: the FDA had approved Spinraza as the inaugural treatment for spinal muscular atrophy (SMA). I recall lying in bed, scrolling through Facebook and various social media platforms, when the announcement flashed before me. It was the news I had eagerly anticipated for years.

Finally a treatment for SMA

During my childhood, doctors at the SMA clinic consistently informed us that treatments remained distant or were on the brink of release. Now, there are numerous treatments tailored to various stages of spinal muscular atrophy, catering to both adults and infants alike.

It's hard to put into words how I felt when I saw that announcement on my birthday. It was like receiving the best gift, especially on my special day. I felt hopeful, thinking about how it could positively change my body.

Throughout my life, I've wished for treatment for my condition. Therefore, it felt incredibly wonderful and amazing to learn that something was finally approved and on the horizon for everyone with spinal muscular atrophy.

That treatment wasn't for me

Spinraza entails administering spinal injections every few months. Unfortunately, testing revealed that my spinal fusion surgery had not provided sufficient space for the doses to be injected via interventional radiology. I was presented with alternatives, such as a port in my head or neck, but I promptly dismissed them, unwilling to undergo such procedures.

Despite my disappointment, I remained hopeful. During those appointments discussing Spinraza, another new drug called Evrysdi/Risdiplam emerged as a topic of conversation. The oral medication, soon to receive FDA approval, provided a glimmer of hope as a treatment that patients could administer at home.

In a year, another treatment becomes available

It took about a year before Evrysdi became accessible for SMA patients to administer at home. A FAM representative was assigned to assist me in navigating the insurance process and arranging delivery from the specialty pharmacy.

In 2020, I promptly received approval and began taking the medication. Once more, I found myself brimming with excitement and a hint of uncertainty regarding what this new drug might bring. I harbored concerns about potential side effects. Despite the drug undergoing testing and trials, its novelty meant there were many unknown variables regarding its efficacy for adult SMA patients.

Nevertheless, the most crucial thing was that sense of hope, reminiscent of what I experienced with Spinraza.

Improvements within a week

In October 2020, I began taking Evrysdi. Initially, the first few days didn't reveal many changes. However, about a week later, I started feeling a bit more energetic throughout the day.

By the end of the first month, I noticed significant improvements. I could move my arms more freely, feeling less resistance from gravity. Tears welled up in my eyes because it was actually working—I was making progress! My voice sounded stronger and clearer, and I found myself less winded during longer conversations with friends and family.

A plateau in improvement

In the following months, my gains seemed to plateau until I began noticing a significant decline in my strength. It felt like a sudden reversal—a complete 180. My arms became so weak that lifting them felt nearly impossible. Concurrently, I started experiencing unexplained episodes of high heart rate. As I dealt with increasing weakness and tachycardia, I wondered if Evrysdi caused these side effects. Given that it's a new drug, we couldn't completely dismiss such possibilities, could we?

My doctors tried removing other medications to find the cause of the rapid heart rate and discomfort, but the symptoms continued. Sadly, in March 2020, my doctors and I decided to stop Evrysdi to regain strength and ease arm weakness. Tasks like brushing teeth and using a wheelchair became difficult. My doctor agreed stopping the medication was best and suggested examining my heart thoroughly.

Was I having a reaction?

After stopping Evrysdi, it took weeks for me to return to my normal baseline. However, the tachycardia persisted, leading to multiple visits to the emergency room over the subsequent months. I underwent various tests—EKGs, echocardiograms, and blood work—all showing my heart was in excellent condition. However, medical professionals uncovered that nerves around my heart exhibited erratic behavior, alongside a prior undiagnosed condition of sleep apnea.

It's still uncertain if Evrysdi triggered these heart-related symptoms, and I still face issues post-medication cessation. Having been off Evrysdi for over a year, I find myself contemplating the possibility of resuming the treatment.

Want to try again

As I see my weakness and deterioration gradually progressing due to my condition, I'm keen to give Evrysdi another try, now that I'm more aware of my heart condition and the tachycardia. I plan to discuss the prospect of restarting the medication with my new SMA neurologist in February. I'm excited to document my journey with Evrysdi if I choose to resume treatment and share it with all of you.

It's amazing to witness the many advancements in the SMA community, with new treatments constantly emerging. While I wish these treatments had been available during my infancy, I'm immensely grateful that the next generation of SMA patients now have the chance to halt the disease's progression before it's too late. What has your experience with Evrysdi entailed?