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SMA Doesn’t Hold Me Back – It Propels Me Forward

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 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?