From a SMA dad's perspective:
Hello, my name is Shawn O'Neill, father to Grace
Mackenzie, who was a Spinal Muscular Atrophy (SMA) type
1 patient. My beautiful wife Christine and I have been
through some sorrowing times prior to ever meeting each
other. Both our fathers, passed away at a young age.
My dad, James, passed away from a sudden heart attack,
and Christine's dad from diabetes.
When we married in December of 2008, our sorrows turned into smiles as we felt our darker
days were behind us,and becoming pregnant in April of 2010 was a sure sign.Our angel,
Grace, was born on December 17th. It was a normal birth, no complications, everyone
was overjoyed with our beautiful, blue-eyed girl.We took Grace home on the 19th, which is
when we started noticing something was wrong (weakness, not moving). We brought
our concerns to her pediatrician at her one month appointment on 17 Jan.
The pediatrician said we needed to see a neurologist immediately as she was concerned
Grace had hypotonia. After researching hypotonia throughout the night, we thought ok,Grace
is just going to be a slow developer. We were wrong...the next morning is when our world
came crashing down ...we were given the soul-ripping news that our angel might have
SMA (A genetic test a few days later confirmed that Grace has SMA).
There are truly no words to describe the helplessness, sadness, and anger we felt.
Why did this happen to us? What did we do wrong? Here was the light at the end of our
tunnel, only to find that she could be taken away from us within six months to two years,
which is the standard "death sentence" for a SMA type 1, patient.
SMA is a degenerative disease that affects 1 in 6000 babies. Approximately 1 in 40 people
carry the gene. There is no cure for SMA and there is no proven treatments to help slow
the progression of the disease. Slowly Gracie's body failed her.
Grace never was able to lift her head, sit up, roll over, crawl or walk. The brain in
SMA children loses its ability to control muscle function, yet the brain is still
cognitively functional, in essence, Grace is "trapped" inside this disease.
Even with all the appointments and care, Grace did it all with a smile, when one first
met Grace, the first comment usually was about her hair and her gorgeous big blue eyes.
Her eyes almost seemed like another way for her to "talk", its believed in SMA patients,
that their bright eyes are a looking glass into their soul.
SMA took its toll on Christine and I mentally, physically, financially, and
spirtuality. Without the blessings of family, friendship, and the compassion of others,
our lives would be even darker, and for that we're forever grateful.
From the moment we found out Gracie had SMA, we've taken a life long pledge to spread the
word on this terrible disease, so that no one further parents will be blind-sided and have
their spirits crushed, and their "light" taken away... Update: Grace Mackenzie O'Neill fought SMA until her passing on June 7, 2012. Within hours of being home from a month long stay in the hospital, talk of hospice, Gracie was determined to do things on her terms. She made it home, and now shines bright in the eternal clubhouse in the sky.
Gracie, thank you for 17 months of pure love, joy, smiles, and the greatest gift of learning value in life.