Life Before and After Spinraza, Part 1

Life Before and After Spinraza, Part 1

Alyssa Life One Cup At A Time

If I asked you right now to tell me what your life’s defining moments were, what would you choose?

Would it be something that left you feeling content and hopeful? Or would it be something more dark and gloomy?

Each of us has moments when it’s almost as if we’re watching a playback reel of our life and can say, “That right there! For better or worse, that moment changed me.”

I was recently doing an interview for an upcoming project when the correspondent asked me to describe the moment in which I realized the extent of my disease. It was certainly a difficult question considering SMA is all I’ve ever known — and I have a terrible memory. Once the interview was over (I was unable to answer this question), I consulted my parents and they, too, didn’t know the answer. They reminded me that I always took my disease in stride and never once questioned my limitations. I always knew I had a disability, and I always knew there were certain things I couldn’t do, but I never let it get to me.

However, this conversation rested in my mind. What were my moments that defined life with SMA? I sat with these thoughts for a while, and later realized that many were of the dark and gloomy kind. This wasn’t to say contentment and hope didn’t play a pivotal role in my life. It was just that the moments that were a little less cookie-cutter perfect and more blessed-in-the-mess of life were those that I could point to and say with confidence: That changed me.

The summer of 2015 was when one of my life’s most defining moments (until that point) unfolded. I remember the exact day I noticed something was changing: It was the final day of May. My breathing had become more labored, and my body had begun to feel weaker. But I shrugged it off thinking I had overworked myself. Days later, I went to my yearly SMA clinic appointment, and the results confirmed increasing weakness. Again, I kicked this fear under the rug and desperately tried to convince myself this would pass.

It didn’t, and weeks later, I reached my breaking point— or my defining moment, if you will. It was July, and I was sobbing uncontrollably into my mother’s arms. As I unwillingly accepted this new reality with her, I blubbered the words, “There’s so much I want to do, so many people I want to help in my lifetime, and SMA won’t allow me.”

In that moment, our hearts broke. We shared the pain of this devastating truth together and, suddenly, the reality of this disease became all too real. A reality that suddenly changed me.

Sometimes the things you don’t want to hear or accept end up being the biggest lessons or most defining moments for a person. That summer changed me at my core. Circumstances weighed heavy on my shoulders as I carried that memory, and it shifted my outlook on life. Things weren’t going to ever get better, I thought. SMA was a fast-acting monster wanting to leave nothing but destruction in its warpath. However, what I failed to recognize in that defining moment was that, just because a certain experience in life changed a person, it didn’t mean there wasn’t room for more defining experiences.

3 comments

  1. Louis Cowan says:

    I would like to know if there is a research group looking at the S.M.A.-L.E.D DISEASE..(lower extremity dominant) I have been diagnosed by three prominent doctors with this disease and given no hope of treatment or cure for this disease…IS THERE ANY RESEARCH BEING DONE ON THIS CONDITION??? And how may I find out of any individual who is involved in research of this disease???? sincerely awaiting a reply>>> Louis Cowan

    • Ashley says:

      Louis,
      There are tons of doctors out there that leave SMA patients with no hope but the important thing to remember is they are not God and there is ALWAYS hope! Last June I had a neurologist tell me that is no hope and nothing will come down the pipeline for at least the next 10 years but I refused to believe him. 6 months later Spinraza came out and he was writing up an order for it. I would get in touch with the Stanford Neuromuscular Disorders facebook group. https://www.facebook.com/groups/617436221603700/
      Katharine Hagerman PhD has helped answer several of my questions and is very optimistic. I’m not familiar with L.E.D. but Spinraza was approved for all SMA patients so hopefully it could help you. Gene therapy is also in the works and hopefully will be available within the next year and a half.

    • Gyula Acsadi says:

      Dear Louis,
      There is basic research on the role of BICD2 in various neuronal functions, including the interaction of this protein with dynein for molecular transport in axons of nerve cells. There are publications showing that the mutations in BICDN2 causes a spectrum of various neurological diseases, not only SMA-LED, which is very rare.
      Unfortunately, there is no clinical trial posted at this point for the treatment, but keep up the hope since genetic engineering is expanding very fast!
      Please forward my greeting to you family!

      Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21.
      Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
      Storbeck M1,2,3, Horsberg Eriksen B4, Unger A5, Hölker I1,2,3, Aukrust I6, Martínez-Carrera LA1,2,3, Linke WA5, Ferbert A7, Heller R1, Vorgerd M8, Houge G6, Wirth B1,2,3.

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