“Okay, I’d like to call for a time-out,” the attending announced in the operating room. “The patient’s name is Alyssa Silva…” Okay, breathe, Alyssa.
“…she is here for a lumbar puncture…” Deep breaths.
“…we have consent…” Inhale.
“…the injection is here…” Exhale.
“…okay, then. I think we’re ready to start.” You can absolutely do this.
Sunday, December 4th. 5:47pm.
It was another lazy Sunday evening at the Silva’s when my mother’s cell phone rang. On the other end of the call was my neurologist.
My mother quickly went into the basement where my father and she were to take the call together, and, with good reason, I became a little concerned. I couldn’t remember the last time my neurologist called, never mind on a Sunday evening.
Fifteen minutes later, they emerged from the basement together with tears in their eyes and said, “Boston Children’s Hospital wants you to participate in the Nusinersen Expanded Access Program.”
Stunned, I was laying motionless for a minute trying to process what I had just heard. Overwhelmed with every feeling a person could possibly feel, I broke down.
Nusinersen is a drug that has been proven effective to treat patients with spinal muscular atrophy. Although not yet approved by the FDA, my doctor informed me that I qualified for Nusinersen EAP which is a program sponsored by the pharmaceutical company, Biogen. Doctors have seen tremendous strides in infants and children during the clinical trial phases. However, there’s a catch to this for someone like me.
Over the phone, my neurologist explained some inconvenient circumstances (as I like to refer to them) that could happen if, in fact, I chose to proceed with the treatment. First, to his knowledge, I would be the first adult with SMA type I to receive this drug, and because of this, there would be no guarantee that Nusinersen would be at all effective. His uncertainties stemmed from the fact that my disease has progressed greatly over the years and my nerves may now be too damaged to reap the benefits of this drug. Furthermore, he explained that the drug is administered through a spinal tap, and because my body is so weak, I wouldn’t be able to receive anesthesia like the other patients have in the past. Given the nature of my scoliosis and the fact that I’d be awake, he warned me that this procedure would be painful and potentially not doable. They wouldn’t be able to make any promises until I was on the operating table.
Although the odds were somewhat stacked against me, I knew the only choice I had was to proceed with the opportunity. I’ve waited for this my entire life- I had to, at least, try.
I felt caught somewhere between reality and living a surreal existence in the days following that phone call. My body felt more paralyzed than ever as fear overcame me, and my mind became consumed by the thought of the treatment. Despite choosing to move forward, I realized I could potentially have everything to lose. Maybe not physically, but it didn’t take away from the fact that everything I’ve ever wanted and hoped for could crash and burn in just a couple of months. I felt scared and shaken at the core of my being. I wanted this so bad, but knew that there was a possibility I may never get it. What would happen then? What would happen if what I have always dreamed of was just that- a dream and nothing more? My disease has taken so much of me already- what if it took this away from me, too?
The more I thought about it, though, the more I realized that, regardless of the outcome from this procedure, I would carry the strength within me that has endured the toughest of times. I would hopefully, in some way, contribute to medical research and the promising future of SMA. Because, if this drug is effective, this could forever change the way in which adults with SMA type I live. So, I decided to remain hopeful, but also with a clear understanding that there would be a great possibility that this may not work. In spite of my fears, I found comfort in faith in knowing whatever is meant to be will take its course.
So, on Thursday, December 15, I went in for my first procedure. With eyes closed and deep meditative breaths, I kept one ear on the Christmas music playing faintly in the O.R. and listened closely to the doctors with the other, hoping they would find access to my spinal canal.
As I was laying still on the operating table, the fluoroscopy machine spun around my body. My fears, expectations, disappointments, and hopes laid beside me. “Okay, let’s insert the needle [into the spine] one more millimeter,” the attending said for the third or fourth time while referring to the images. Suddenly, I felt a massive electrical shock in my foot and flinched in a way that I didn’t even know my body was physically capable of.
“We’re in! It’s time for the injection, okay Alyssa?”
This is really happening.
**Disclaimer: While my goal is to remain as open and honest with you on this new journey, the opinions expressed here represent my own and not the SMA community as a whole. Should you seek medical advice regarding Spinraza, please consult with a medical professional. Thank you for following along!