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Amanda, William and William Jr. Shirk
Patient Spotlight Family
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Our journey with SMA began in Fall 2018, when my son William was about 9 months old. Up until that point, he was the most perfect happy baby who met all of his milestones right on time, a great eater, a great sleeper, rolled over and all across the room, sat up… as he got closer to his first birthday he still had no interest in crawling and would not bear any weight on his legs. Even his pediatrician chalked it up to him being a super chunky, calm, content baby who just needed a little more time to support his weight. So, we tried not to worry and hoped for progress. He began early intervention physical therapy 1x per week and we soon were incorporating PT into almost every part of his daily routine—playtime, bath time, meal time; he was constantly working those muscles, yet he wasn't really improving. In fact, we began to notice that he could not reach his arms over his head, he would fall over more frequently when in a sitting position and seemed floppy when we held him. After another visit to the pediatrician, we took him to see a pediatric neurologist and neuromuscular specialist at Children's Hospital of Philadelphia who, after a few rounds of testing, sorrowfully told us that our sweet 15-month-old little boy has a rare, serious genetic disease called Spinal Muscular Atrophy, or SMA…. But today on this diagnosis day, March 12, 2019 while our hearts are broken into a billion tiny pieces, we also have SO MUCH HOPE because NOW there is treatment… a life-saving treatment, with more just on the horizon! But time is of the essence...children with type 2 SMA, like William, may live full lives depending on the severity of symptoms. Earlier treatment means better outcomes!
Less than 4 weeks later William was lucky enough to receive the first ever treatment for SMA, Spinraza, which was administered through a series of injections into his spine. By the time he received treatment he had lost the ability to roll over or reach his arms high enough to his mouth to feed himself, but, while it sounds crazy, literally in just a few days after his first treatment he started rolling over again and over the next several weeks, slowly started gaining more and more strength. He's started to reach higher, kick harder and sit without falling over! We soon started exploring the single-dose gene therapy, Zolgensma, approved by the FDA just 2.5 months after his initial diagnosis! And in July 2019 at 19 months old he received it. Less than a month later, he was bearing weight on his legs with support and those hands that could hardly reach his mouth a few months ago he can now get up over his head. Since, he’s only gotten stronger every day. He works hard with about 2 physical therapy and 2 occupational therapy appointments every week, as well as 8-week sessions of aquatic therapy on and off, we’ve gotten the slew of equipment from new braces every few months to wheelchairs to walkers, respiratory treatment, PT benches and balls and harnesses… but this kid is determined, he always has a smile on his face. About 4 months after receiving gene therapy he was able to cruise along furniture and take small steps with a walker, about 4 months after that he started crawling and about 2 months after that on May 12, 2020, at 2.5 years old, he took his very first step on his own and has only continued to get stronger since. Today, 4 year old William rarely uses his wheelchair anymore, he is in a regular preschool classroom, navigating the room, opening his own markers, using the bathroom himself, playing on the playground and making friends! And while we still have a journey ahead of us, as many daily tasks are still very difficult for him, he is determined to be independent. Our little boy always has a smile on his face, he is so brave and his fighting spirit will let nothing stop him.
Much of this is owed to incredible families before us and amazing research organizations like CureSMA who have made strides in finding an end to the monster that SMA is without early detection and early treatment. We have an amazing team of doctors and therapists at CHOP, as well as therapists through the Montgomery County Intermediate Unit who follow him closely and work with him to help him continually make immense improvements. Because of them, my family never had to hear the words, "take him home and love him" or "there's nothing we can do." Instead, we had hope from the day we received William’s diagnosis, my son quickly received treatment that halted his progressive muscle weakness, we heard the words “he will walk one day”, and today my son walked all the way downstairs from his bedroom to our kitchen to grab a snack on his own.
Less than 4 weeks later William was lucky enough to receive the first ever treatment for SMA, Spinraza, which was administered through a series of injections into his spine. By the time he received treatment he had lost the ability to roll over or reach his arms high enough to his mouth to feed himself, but, while it sounds crazy, literally in just a few days after his first treatment he started rolling over again and over the next several weeks, slowly started gaining more and more strength. He's started to reach higher, kick harder and sit without falling over! We soon started exploring the single-dose gene therapy, Zolgensma, approved by the FDA just 2.5 months after his initial diagnosis! And in July 2019 at 19 months old he received it. Less than a month later, he was bearing weight on his legs with support and those hands that could hardly reach his mouth a few months ago he can now get up over his head. Since, he’s only gotten stronger every day. He works hard with about 2 physical therapy and 2 occupational therapy appointments every week, as well as 8-week sessions of aquatic therapy on and off, we’ve gotten the slew of equipment from new braces every few months to wheelchairs to walkers, respiratory treatment, PT benches and balls and harnesses… but this kid is determined, he always has a smile on his face. About 4 months after receiving gene therapy he was able to cruise along furniture and take small steps with a walker, about 4 months after that he started crawling and about 2 months after that on May 12, 2020, at 2.5 years old, he took his very first step on his own and has only continued to get stronger since. Today, 4 year old William rarely uses his wheelchair anymore, he is in a regular preschool classroom, navigating the room, opening his own markers, using the bathroom himself, playing on the playground and making friends! And while we still have a journey ahead of us, as many daily tasks are still very difficult for him, he is determined to be independent. Our little boy always has a smile on his face, he is so brave and his fighting spirit will let nothing stop him.
Much of this is owed to incredible families before us and amazing research organizations like CureSMA who have made strides in finding an end to the monster that SMA is without early detection and early treatment. We have an amazing team of doctors and therapists at CHOP, as well as therapists through the Montgomery County Intermediate Unit who follow him closely and work with him to help him continually make immense improvements. Because of them, my family never had to hear the words, "take him home and love him" or "there's nothing we can do." Instead, we had hope from the day we received William’s diagnosis, my son quickly received treatment that halted his progressive muscle weakness, we heard the words “he will walk one day”, and today my son walked all the way downstairs from his bedroom to our kitchen to grab a snack on his own.