It's a rare thing to witness scientific progress firsthand; to see the tangible result of years of research, testing, trial and error, and long hours spent in an effort to solve a problem. To look into the eyes of three year old Sofia Wylie is that rare occasion, as her young life is the direct, miraculous result of the first ever treatment developed for Spinal Muscular Atrophy (SMA).
For those who remember the Ice Bucket Challenge from a few years ago, that widespread fundraising effort was to fund research for a cure of Amyotrophic Lateral Sclerosis (ALS). SMA is a terminal childhood version of that disease that takes hold right from infancy and affects a child's ability to breathe, hold their head up, talk, eat, and walk, among other basic and crucial physical functions. Sofia was diagnosed with the worst form of SMA and started to show symptoms as early as nine weeks old.Â
Sofia's mother, Natalia Wylie, grew up in Gilford and like many awesome folks from the Lakes Region, spent much of her free time in the winters skiing at Gunstock. Having been classmates and friends through middle and high school, it's been devastating to watch, and hard to fathom the hardship that she, her husband, Jason, and their eldest daughter, Sammy, have gone through, but also profoundly inspiring.
"When Sofia was first diagnosed with SMA, we were told she would only live to be between 13 and 23 months old," Natalia said. "There was no treatment of any kind, there was no cure, there was nothing."
Desperate and in a helpless panic, Natalia and Jason headed to Boston Children's Hospital to attend a SMA clinic, where they were educated about necessary care that Sofia would have to receive, things to avoid, required equipment, and so on. While there for their first visit, they were told that there were treatments being developed for SMA that were still in the process of getting approved, and hurried to get Sofia on a list of potential recipients for an upcoming experimental treatment. The first child patient that was scheduled to receive a dose of either the treatment or a placebo in a blind study cancelled, opting for experimental gene therapy instead. Sofia was next in line, so the family brought her back to Boston to enroll in the study.
"We were involved in three years of this blind study for a new medication with no idea of whether she was actually receiving treatment," Natalia said. "We had a feeling she was getting the real doses though, because she started to show very noticeable signs of improvement. We found out later that Sofia was the first childÂ dosed in the final phase of the study, and she's now the literal poster child for Spinrazaâ„¢,Â the first ever treatment for SMA."
Spinrazaâ„¢ was approved two days before Christmas in 2016 and is showing tremendous promise for children who are fighting SMA. Initially told that she would likely not live to see two years old, Sofia is now three, and since beginning her treatment, has yet to plateau or regress. Her story has given many families hope that they too can fight this disease.
"She's come so far since she started treatment, from things as simple as breathing independently, holding her head up, and sitting up to play with toys, to using a manual wheelchair and walking using a walker," said Natalia. "She even takes dance classes at Edgewater Academy of Dance in Gilford."
SMA is the number one genetic killer of infants, and one in four people are carriers of the gene.
The Wylies have come so far in their quest to defend their daughter's life in the face of SMA, and want toÂ help contribute to the research that has helped to not only keep Sofia alive, but to also improve her quality of life. Fundraising for further study and spreading awareness about SMA has become a priority at the forefront of their lives, so they began planning the first Cure SMA: Hike for the Cure at Gunstock. Natalia and Jason are both avid skiers and frequent the mountain every year, so they're looking forward to holding the event here.
"We had planned to do a standard 5k at first, but then we thought, 'Hey, why don't we do a hike at Gunstock for something a little more unique and fun,'" Natalia said. "We both love it here and it's right in our backyard so it felt like the perfect location."
Participants will be hiking, walking or running to the summit of Gunstock on Saturday morning, beginning at 10 am (registration is at 9), and upon reaching the top, are invited to take the Panorama chair back down. This will be a timed - for fun â€“ event. For those who don't want to hike, there will be a one mile walk on paved roads throughout the resort as well. Participants are also welcome to enjoy an included barbecue at the Stockade Lodge, where there will be all kinds of great items raffled off, and beer from the Woodstock Inn & Brewery, with proceeds from beer sales benefiting Cure SMA as well.Â
Those unable to participate in Saturday's event are asked to consider donating to this worthy cause that has given not only our community, but families everywhere, hope that one day, we will cure SMA.
See you on Saturday, we can't wait!