The diagnostic process for spinal muscular atrophy (SMA) has evolved dramatically over the last 30 years. When my sister was diagnosed in 1988, the only way of confirming an SMA diagnosis was through a muscle biopsy. She had a thick scar along her thigh for the rest of her life – a reminder of the hours, weeks, and months of poking and prodding her little baby body was subjected to while my parents and doctors tried to figure out why she was a “floppy baby,” suddenly losing abilities she had just days prior.
In the 6 years between her SMA diagnosis and my birth, SMA became more understood, and the diagnostic process, if SMA was suspected, became a simple blood test. Because of my sister’s SMA progression, my parents noticed signs of the rare disease in me at the early age of just 4 months, though, to most outsiders, I still appeared to be developing normally. I was taking feedings fine, holding my head up, babbling, learning to use my hands, and squirming around like most infants that age. So what was there to notice?
Read about experimental therapies for SMA
Within the SMA community, there are a few discrete symptoms of SMA that are telltales. The symptoms that my mom noticed in me were fasciculations of the tongue and the fact that my third toes on both feet curved under the second toes. When my mom realized that my tongue was constantly dancing in my mouth, she knew I had SMA. At age 6 months, she had me formally diagnosed with a simple blood draw. Unlike my sister, I have no scars to prove my diagnosis.
In my infancy and toddlerhood, my physical abilities developed slowly or not at all. Unlike many with SMA, I didn’t have the experience of reaching big, physical developmental milestones and then suddenly losing those abilities. Rather, I just never attained them. I had the ability to sit unassisted, but only when positioned just so. I never crawled, stood, or walked.
By the age of 2, I had my first electric wheelchair. Nowadays, many toddlers have their electric wheelchairs, as they should. But in the 90s, though, giving a 2-year-old an electric wheelchair was almost unheard of.
Having the appropriate mobility device in toddlerhood allowed me to keep up with my peers. I was able to attend preschool, play outside with the neighbors, move freely about the house, and get into things I wasn’t supposed to, just as toddlers should. Because I had access to my wheelchair, I was able to engage in the community like most toddlers and was not losing physical abilities. Having SMA was just a “normal” part of life for me during my early years.
I knew I had SMA and would share that information with others in the same way a toddler recites his or her name, age, and favorite color. It wasn’t until I was older that I realized SMA was progressive.
At the age of 5, I had my spinal fusion and 2 different tendon-release surgeries at once. It seems like a young age to fuse one’s spine, but due to the severity of my curvature, my left lung was being compressed more every day; the spinal fusion was the only way of ensuring my lung function stabilized. There was a complication with the fusion, requiring a second surgery a few weeks later.
The combination of pain, a second surgery, and recovery time caused me to be in bed for a couple of months. When I was finally able to get back up in my wheelchair, everything felt harder to do. Well, everything except for sitting up straight. I was eventually able to regain most of my pre-surgery abilities, but this was the first time I realized I might not fully understand what SMA meant for my body.
Around the age of 10, I started losing mobility in my arms and jaw. Food suddenly became much harder to chew. I dropped my pencil more frequently, spilled food on myself almost every meal, and struggled to pick up my cup to get a drink. I had intense pain in my left shoulder and would randomly lose all function in my left arm. I didn’t understand what was happening. Neither did those around me.
Because my oldest sister also had SMA and could still complete all of these daily tasks I was suddenly struggling with, I often got compared to her. We didn’t know that SMA progression is unique to the individual and that even siblings can progress in drastically different ways. I received messaging that I wasn’t trying hard enough or I just wanted someone to do things for me. What I wanted was a sip of my drink and clothes that weren’t stained with food. If I had understood SMA better at that age, I likely would have felt a lot less shame.
By the age of 12, I lost all function in my left arm. I adapted and learned to be a righty, though my drawing ability was never the same. For the next few years, my strength was pretty consistent. My right wrist started contracting more and became painful.
At 15, I begged my mom and orthopedic surgeon to let me have reconstructive surgery on my wrist to save the function I had left. Neither wanted me to have the surgery because of the risks that come with anesthesia, but they eventually agreed; they understood that my little bit of independence was reliant upon this hand functioning. The surgery and recovery were excruciating, but it was worth it. Today, 12 years later, I’m typing this column with the wrist that was saved by that surgery.
In the years between my wrist surgery and starting nusinersen (Spinraza®) in 2018, my SMA progression was slow and steady. I had less energy, more foods became impossible to chew, my speech was less clear, driving my wheelchair was more difficult, and it felt like I typed slower every day. As someone with a full spinal fusion, getting Spinraza was no easy feat. It was traumatic and painful, but I knew I had to do it. I had to go through those procedures because it was my only chance of keeping the strength I had. To my surprise, I gained some strength while on Spinraza, in addition to the nerve pain. After becoming a parent at the beginning of 2020 and trying to work full time, the Spinraza procedures and recovery were becoming too much to manage.
In October 2020, I switched from Spinraza to risdiplam (Evrysdi®). I didn’t feel like I was as energized on Evrysdi, but taking a nightly oral medication that tastes like a strawberry CapriSun was much better than quarterly lumbar punctures.
Over the past 2-plus years of Evrysdi, I have not lost any muscle function. None. In fact, I have had slow and steady gains in strength: my speech is clearer, I can chew foods I haven’t been able to eat since I was 10, I can stay awake for 14-plus hours per day, I can type faster, and I can even sit up unassisted (an ability I lost when I was 8). Though I hoped SMA treatments would evolve to help me gain strength, I did not anticipate gaining function in my late 20s. Just as I slowly realized I was losing strength as a child and adolescent, I’m slowly realizing I’m gaining strength as an adult.
I’m glad I understand SMA progression now. I wish I had known about it as a child. For anyone working with SMA kids, I hope you will teach them how SMA can progress, how they may lose abilities suddenly, how it can look very different from their sibling or friend who has SMA, and how none of it is their fault. I also hope that SMA kids get to experience treatments that allow them to never personally experience the progression that can come with SMA.