Since I was a child, the hope for a cure or treatment for spinal muscular atrophy (SMA) was something my family and I continuously prayed for from the beginning of my diagnosis. We understood the magnitude of complications this disease could cause the body to go through.

A chance of stopping the progression would ultimately allow those suffering from SMA an opportunity to live life more comfortably. A treatment that could expand the life expectancy of one afflicted by this disease, would be huge. We all know that life is precious, and every day is a gift. However, when you’re told by medical professionals life expectancy could be cut in half compared to the average person, it’s difficult to avoid panic.

Nevertheless, for me, after many years of praying and god preserving my health and strength, I’m grateful, and fortunate enough to receive a breakthrough treatment in the SMA community. 

Continue Reading

In  2018, I heard of a treatment medication called Spinraza®. This was a minor invasive treatment injected through the spine. And although I was hearing great things about its effectiveness, I didn’t believe it was the best option for me. My scoliosis is on the severe side of the spectrum. Poking needles near that area on a monthly basis sounded too risky for me. However, for those it was working for, I’m happy for them, and their outcomes with it. 

My brother, who is a physician assistant, encouraged me not to lose hope. He explained that now medical science knows what to target, an increase of medication options for treatments will be more likely in the near future. 

My brother was correct. When 2020 rolled around, we received word about a new treatment called, Evrysdi®. The most encouraging thing about this treatment was the impact it was having on infants and toddlers.

I was hearing stories of toddlers walking, and adults seeing improvements as well. At this point, I knew I had to get my hands on this treatment. And, from what I understood, the medication was supposed to take the motor neurons we have left, and splice them. More production of motor neurons will help give our brains the appropriate signals to use our voluntary muscles. It involves a lot more science behind it, but it was enough understanding for me to jump on the bandwagon and get this medication.

Therapies for treating spinal muscular atrohpy

The medication is given orally, through a syringe, once daily. On January 4, 2021, I received one of the most enlightening phone calls of my life. The pharmaceutical company called to confirm my first prescription of Evrysdi®. I was overjoyed. I didn’t know how to compose myself over the phone. I shed many tears of gratitude. It was the most surreal moment of my life. Especially with how quick the process had gone. This medication is extremely expensive, and I didn’t expect to receive it without a fight. So many fears, doubts, and unknowns were lifting off of my shoulders. My future wasn’t envisioned as this dark, scary place no longer, but rather a place of warmth and room for more hope. 

I’ve currently been taking the medication for a year now, and it’s been a great blessing. I’ve had minimal side effects, and I’ve seen several improvements in my speech, neck stiffness, and core strength. It also has improved my overall stamina. Any little bit of change is appreciated. And, although it hasn’t produced significant advancements, I can rest better knowing it has ceased progression. That’s monumental.