SMA Doesn’t Hold Me Back – It Propels Me Forward
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My name is Juan, but I’m also known to many as a Rebel in a Wheelchair. When I was 2 years old, my parents found out I had spinal muscular atrophy (SMA). At the time of the original diagnosis my parents were told I had Type 1 SMA, the most severe form of this rare genetic disease, and wouldn’t live past age 5.
Despite this news, my parents hoped for the best and kept my condition a secret from me – even when physicians later re-diagnosed me with Type 2, a less severe form of SMA. They showed me unwavering positivity, love and smiles, and raised me to believe I could do anything I put my mind to without limitations. As a 36-year-old adult, I now look back and believe that growing up in this supportive environment was part of the reason why I did live past the age of 5. For all I knew, I was just a regular kid, living a regular life.
For a bit of background on SMA, people living with the disease do not produce enough survival motor neuron (SMN) protein, which can cause an irreversible loss of motor neurons and progressive muscle weakness. Of the most common forms of SMA, Type 1 is the most severe and can potentially impact breathing and swallowing abilities, and Type 3 being a less severe form that can affect walking abilities.1 In my personal experience with SMA, I started using a wheelchair when I was very young, though I never saw it as a limitation. I liked to think of it as my personal vehicle for exploring the world – a transportation system to take me wherever I wanted to go, not to keep me from places.
Still, it wasn’t always easy for me to keep a positive outlook, especially as I entered my teenage years and began coming to terms with the reality of my disease. I tried talking to healthcare professionals about managing my SMA, but at the time, there weren’t any options available to help slow the progression of the disease. I felt frustrated, sad and even betrayed by my parents for telling me I could grow up to pursue my dreams. I became aware of the fact that my doctors and family felt I wasn’t going to live long enough to accomplish anything worthwhile. Unable to envision my future, I was angry at anyone without a disability who could live a so-called “normal” life.
Eventually, my angst turned into a full-blown rebellion that led to a downward spiral. It took hitting rock bottom to realize I needed to make some serious changes and take back control of my life and future. I have since pursued a career as a clinical psychologist, life coach and transformational speaker to help at-risk teens achieve their full potential. Helping these young people overcome their hurdles has brought me so much joy in life.
With this positive shift in my outlook, I decided to reinvestigate steps I could take to potentially slow down the progression of my SMA. I had heard about SPINRAZA® (nusinersen), the first prescription medication approved to treat children and adults with SMA, but had held off on trying it because initially I worried that it wouldn’t work or that I might experience side effects. Please see full Prescribing Information and Important Safety Information to learn more about SPINRAZA.
However, after experiencing a pinched nerve that caused a temporary loss of function in my left arm, I realized that without intervention, my disease could eventually lead to a permanent loss of motor function. That’s when I talked to my neurologist about SPINRAZA. We discussed what a treatment plan would look like and he outlined the potential risks, like monitoring for bleeding and kidney damage and common side effects including lower respiratory infection, fever, constipation, headache, vomiting, back pain and post-lumbar puncture syndrome. For me, the benefits outweighed the risks and I began treatment with SPINRAZA in 2017. Since then, I believe I have maintained motor function and even gained new muscle strength. I feel like I can squeeze my hands tighter and keep my head steadier, even in the car; these small advances have made a world of difference for me. This of course has been my personal experience and individual results may vary.
Today, I love my life and feel immensely grateful to my family for supporting me at every step of my journey – even when times were tough. I’m excited about the future, too. I’ve developed wonderful friendships and met my girlfriend, with whom I hope to have a family one day – this is really important to us. I also continue to meet with my physician to track my progress and discuss my treatment plan. My physician also talks to me about the latest data in SMA, which for me is another reason why I stay on SPINRAZA. As a 36-year-old, it is important to me that there are adult data becoming available on SPINRAZA.
Over the years, I’ve learned that sharing my story in counseling is one of the most powerful tools for inspiring change in my clients. This led me to write and publish my first book, ”REBEL in a Wheelchair,” which I hope will help me reach even more people. My message to anyone out there living with a disability is this: Try to focus on how the universe has blessed you. If you are already going to stand out, why not stand out in a beautiful way?
SPINRAZA® (nusinersen) is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients.
IMPORTANT SAFETY INFORMATION
Increased risk of bleeding complications has been observed after administration of some similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs.
Increased risk of kidney damage, including potentially fatal acute inflammation of the kidney, has been observed after administration of similar medicines. Your healthcare provider should perform urine testing before you start treatment with SPINRAZA and before each dose to monitor for signs of this risk.
The most common possible side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome.
These are not all the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.
Before taking SPINRAZA, tell your healthcare provider if you are pregnant or plan to become pregnant.
Please see full Prescribing Information.
This information is not intended to replace discussions with your healthcare provider.
- Cure SMA. Types of SMA. Available at https://www.curesma.org/types-of-sma/. Accessed: March 2021.