Skylar is an angel... a beautiful, smart and inspiring boy, whose life was cut short at the age of 7 by a devastating genetic disease called Spinal Muscular Atrophy (SMA). Spinal Muscular Atrophy is the number one genetic killer of children under 2. One in 6,000 live births are affected by SMA. Spinal Muscular Atrophy is a disease of the voluntary muscles that allow kids to sit up, crawl, walk and even to breathe. SMA does not affect kids cognitively. Patients are typically very bright and social.
Our journey started approximately 13 years ago when Skylar was born. He was born perfectly healthy. He was a happy, chubby baby who was hitting all his milestones until 6 months old when he suddenly stopped being able to sit-up on his own. Being a big baby and extremely verbal and social, his doctor wasn’t concerned. However, by 9 months old, when he still wasn’t sitting up, mommy intuition set in. Our pediatrician made Skylar an appointment with a neurologist which was baffling at the time. What did Skylar's inability to sit up have to do with his brain? His brain was working perfectly fine, actually better than fine. At 9 months old Skylar was already speaking two syllable words and sentences.
However, after a short assessment by the neurologist and a quick blood test, our child was handed a terminal diagnosis. He was text book for Spinal Muscular Atrophy – his body was floppy and weak with no reflexes but his mind was sharp. We were absolutely blind sided, numb and lost. Not only were we suddenly faced with a disease with no known cure but if Skylar survived past 2, he would be serverly disabled requiring an endless sea of mobility and respiratory equipment.
I can still see his bright blue eyes sparkling with excitement: “Turtal agan Mama agan!" Beseeching me for the hundredth time that hour to press the button on his singing, toe tapping turtle because his fingers were too weak to activate the button.
At the time I was unaware that the turtle’s words “crazy bout you baby” foreshadowed the days ahead. Somewhere between “crazy and baby” and the ache in my finger, I knew that I was “crazy" about Skylar. Jim and I bravely dove into our new world to provide Skylar with the fullest life possible, knowing its culmination would ultimately be our shattered hearts...
By Skylar’s firt birthday our house was a menagerie of mobility equipment from floor sitters and playtables to wheel chairs and standers.
By two, Skylar was telling the technician in his sleep study about his “pulse-oximeter” and his “coughalator”.
By three, Skylar had racked up enough frequent flier miles on the helicopter transport to the emergency room to be awarded his own private hospital room at home complete with medical bed, oxygen tanks and enough respiratory equipment to rival the ICU.
After an especially long and life threatening hospital stay, Skylar came home to his first power chair. Off he went - running over toes, crashing into walls and having the time of his life, as any three year old with a driver’s license would do.
As Skylar’s body weakened, the equipment in our house and his team of doctors/therapists/nurses expanded drastically. But Skylar took life in stride and his spirit never diminished.
He spent 3 hours a day receiving respiratory therapy, 2 hours getting nutrition through a g-tube and another hour consuming enough medication to keep CVS in business, all the while giving his big brother a run for his money on Xbox, teaching his baby brother everything he knew, keeping Jim up to date on the latest sports scores and entertaining his classmates with his quick wit and powerchair rides. This was our new normal.
13 years ago, SMA was a relatively rare disease, but we quickly learned we were not alone - CureSMA played a vital role in our success as parents as we navigated Skylar’s extensive and overwhelming needs.
The day after Skylar’s diagnosis, a family was at our house offering emotional support and advice on how to face our new life. A week later a care package arrived with soft blankets and light weight toys that Skylar would have the strength to manipulate. Two months later Skylar was on a plane to Salt Lake City to participate in a research study and he was put on an FDA approved ALS drug (which was proving to be beneficial for children with SMA).
CureSMA provided a national support network of families dealing with the same crisis at their annual conference. For 3 days we gathered so Skylar could zoom around in his power chair with other kids just like him and we could meet with a team of doctors to hear the latest on physical therapy, orthopedic and respiratory care and the latest on mobility equipment so we could go home and educate our doctors and care givers who were still completely in the dark with regard to SMA.
But most importantly CureSMA gave us hope. Hope for a Cure. While the families met, researches from all over the world would gather for their annual summit. We would anxiously await their announcements at the Sunday closing ceremonies. We attended 6 conferences and each time we would sit on pins and needles waiting to hear of great advances and the announcement of a Cure.… Although in retrospect this was a naïve wish, the progress we have seen from our first conference to today is remarkable and is a testament to the donations that CureSMA has received.
Although Skylar’s fight ended when he was 7, his legacy lives on. He touched so many lives and brought so many people together – family, friends, doctors, teachers, caregivers, community members as attested by the 400 people who attended his memorial service and his 20 classmates that gather every year around his memorial tree on his birthday to share their favorite memories. He made us realize that no obstacle is too large to overcome if you meet it with passion, strength of conviction and optimism (which he did every day of his short life).
No parent should have to face the devastation of losing their child… so Jim and I continue to fight and do what we can to reach for a Cure. Through our painful journey we learned that there is no guarantee for tomorrow for anyone (healthy or not), life can be cut short in the blink of an eye, so we make the most of today and continue to HOPE for a bright future!
Thank you for supporting our family and Cure SMA. Together we are making a difference.
For more information about Cure SMA, please check out their website at curesma.org
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