Therapy Developments, Gratitude, and Patience

A few days ago, I met with an occupational therapist to evaluate the effects of my Spinraza (nusinersen) treatments. So far, I have had six injections of this therapy, and I have noticed things like increased energy and flexibility in my muscles. Still, I don’t always notice these developments when I’m just going about my day-to-day life.

During these evaluations, however, my occupational therapist and I really are able to quantify the amount of progress I’m making. These tests require me to do things like flick a coin into a plastic cup, move a weight across a table, tear a piece of paper in half, and use a marker to draw a line through a maze.

When I initially started these tests in December 2017, I thought they were pretty pointless and frustrating. I had only had a couple of injections at that point, and most of the tasks that my OT asked me to do were beyond my physical ability. Yet since continuing my treatments and doing a few more of these evaluations, I’m in awe of how much I’m able to do now. During this most recent appointment, I even completed the marker test, whereas I could barely finish part of the maze during the last couple of evaluations. This time was the most I’ve been able to draw by hand in years!

As I reflect on how much progress I’ve made just in the last year, all I can express is gratitude. I’m grateful for the countless researchers who have devoted their time and energy to treating spinal muscular atrophy. They’ve made my life and the lives of others a little easier. I’m grateful for my parents who have sacrificed much of their time and energy to provide me with a strong quality of life. I’m grateful for the engineers and scientists out there who have made mind-blowing technologies that allow me and others with disabilities to live more independently.

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Yet even with so many things to celebrate right now, there are still many people in the SMA community who are frustrated and unsatisfied with the progress we currently have.

Last week, the FDA granted priority review for the gene therapy Zolgensma (previously called AVXS-101), which is designed to treat infant patients with SMA type 1. Pharmaceutical companies AveXis and Novartis both worked to move this initiative forward.

Even though this is great news for the SMA community that exemplifies SMA research’s continuing advancement, there are plenty of people who remain frustrated. I’ve seen a number of people on social media express frustrations about things like why the treatment will only be initially available for infants with type 1, why it’s so costly, and why we have to wait for it. I actually did a podcast episode with my co-worker Michael Morale about this investigational therapy, and in it, we discussed many of these questions and concerns.

While I do understand that factors such as the cost and availability of a potential treatment can be frustrating, I want to remind this community just how far we have come. When doctors diagnosed me with SMA type 2 in 1995, they told my parents that I wouldn’t live past my 18th birthday. When I was diagnosed, information and community support resources for individuals and families affected by SMA were extremely limited. Today, I work for a company that offers both on a daily basis.

I never thought that I would live to see an FDA-approved treatment for all SMA types, much less be one of the many people on this treatment. Even with the anxieties and skepticisms I had leading up to my first injection, I am now beyond grateful that I went through it. I’m healthier than ever before, and I can only imagine what kind of developments those of us with SMA will continue to see in the future.

Patience and gratitude are often the hardest virtues to put into practice, but I can honestly say that both have served me well. Though medical advancements and research news aren’t always exactly what we want them to be, I consider any of these advancements victories. For now, let’s just all be thankful that another treatment is on the horizon.

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Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.