Celebrating Skylar's 21st Birthday with 21 Miles - 20 Miles Down, 1 Mile to Go
Skylar is an angel, a beautiful and bright boy whose life was cut short at seven by a devastating genetic disease called spinal muscular atrophy (SMA), the number one genetic killer of children under two. SMA is a disease of the voluntary muscles that allow kids to sit up, crawl, walk, and even breathe. SMA does not affect kids cognitively. Those affected 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 does not discriminate. It affects every race and gender.
Skylar was born perfectly healthy. He was a happy, chubby baby who was hitting all his milestones until six months old, when he suddenly stopped being able to sit up. His pediatrician was not concerned about him since Skylar was exceptionally verbal and social, already speaking in short sentences. However, when he still was not sitting up at nine months old, Skylar's pediatrician scheduled him with a neurologist. After a quick assessment and a simple blood test, Skylar was handed a terminal diagnosis. His body was floppy and weak, but his mind was sharp. We were blind-sided, numb, and lost. Not only were we suddenly faced with a disease with no known cure, but if Skylar survived past two, 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 wheelchairs and standers. He told the technician in his sleep study about his "pulse-oximeter" and his "coughalator" by two. By three, Skylar had racked up enough frequent flier miles on the helicopter transport to be awarded a private hospital room at home, complete with a medical bed, oxygen tanks, and enough respiratory equipment to rival the ICU. After an exceptionally lengthy 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 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, and nurses expanded drastically. But Skylar took life in stride and his spirit never diminished. He spent three hours a day receiving respiratory therapy, two hours receiving his 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 life was our family's new normal.
Twenty years ago, SMA was a relatively unknown disease. Still, we quickly learned we were not alone - Cure SMA (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 lightweight toys that Skylar would have the strength to manipulate. Two months after that, Skylar was on a plane to Salt Lake City to participate in a research study, where the doctor prescribed an FDA-approved ALS drug, showing promise for children with SMA. Cure SMA provided a national support network for families managing the complexity of this diagnosis at their annual conference. For three days, we would gather so Skylar could zoom around in his power chair with other kids 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. Afterward, we would go home and educate our doctors and caregivers, who were still completely in the dark concerning SMA.
Most importantly, Cure SMA gave us hope. Hope for a Cure. While the families met, researchers from all over the world would gather for their annual summit. We would anxiously await their announcements at the Sunday closing ceremonies. We attended six conferences, and each time we would sit on pins and needles, waiting to hear of significant 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 three new FDA-approved drug therapies. In December 2016, the FDA approved Spinraza, the first-ever treatment for all types of SMA. In May 2019, the FDA approved gene therapy for SMA patients under two, which is completely changing the disease course. In August 2020, the FDA approved a third treatment, Evyrsdi, an oral medication for adults and children two months and older.
Although Skylar's fight ended when he was seven, his legacy lives on. He touched so many lives and brought so many people together – family, friends, doctors, teachers, caregivers, and community members. Skylar continues to bring our family and friends together today, and we are thankful for all the people who keep Skylar's memory burning bright. Skylar made us realize that no obstacle is too substantial to overcome if you meet it with passion, the strength of conviction, and optimism.
No parent should have to face the devastation of losing their child, so we 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!