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. 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. SMA affects approximately 1 in 11,000 babies,
and about 1 in every 50 Americans is a genetic carrier. SMA can affect any race or gender.
Skylar 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. 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 scheduled Skylar 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 in short sentences. After a quick assessment and a simple blood test, Skylar was handed a terminal diagnosis. He was text book for SMA. His body was floppy and weak 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 severely disabled requiring an endless sea of mobility and respiratory equipment.
By Skylar’s 1st birthday, our house was a menagerie of mobility equipment from floor sitters and tables to wheel chairs and standers. By 2, he was telling the technician in his sleep study about his “pulse-oximeter” and his “coughalator”. By 3, Skylar had racked up enough frequent flier miles on the helicopter transport to be awarded his own 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 returned home to his first power chair. Off he went, running over toes, crashing into walls and having the time of his life, as any 3 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, and 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 power chair rides. This was our new normal.
17 years ago, SMA was a relatively unknown disease, but we quickly learned we were not alone - CureSMA (formally Families of SMA) 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 would gather 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 learn about the latest physical therapy techniques, orthopedic devices, respiratory treatments and mobility equipment. Then we would 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... In retrospect, this was a very naïve wish during Skylar's short life. However, the landscape is changing rapidly for the SMA Community. Cure SMA has been pivotal in the research and development of new drug therapies and treatments. In December 2016, the FDA approved Spinraza, the first ever treatment for all types of SMA and in May 2019, the FDA approved gene therapy for SMA patients under 2 which is completely changing the course of the disease.
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 continue to gather 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.
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, 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
Please join our team and make a tax deductible donation to Cure SMA today.
Cure SMA is playing a pivotal role in changing the course of SMA. To date, they have invested over $62 million in research.