William was born in February of 2021. Three days after his birth, our family received a phone call informing us that his newborn blood work had come back positive for Spinal Muscular Atrophy (SMA), Type 1.
SMA is a progressive neurodegenerative disease that affects the motor nerve cells in the spinal cord and impacts the muscles used for activities such as breathing, eating, crawling, and walking. SMA is caused by a mutation in the survival motor neuron (SMN) gene 1 (SMN1). In a healthy, non-affected person this gene produces the protein that is critical to the function of the nerves that control the muscles. Those with SMA produce low levels of survival motor neuron protein, which results in the nerve cells not properly functioning and eventually not working at all. This leads to significant muscle weakness. While this diagnosis was difficult it provided us with answers for William's lack of fetal movement, difficulty breathing, and inconsistent body temperatures at birth.
William received a recently approved gene treatment, Zolgensma. This was a one-time treatment which would replace the non-working SMN 1 gene. Although William did start to do better with this treatment he continued to miss his developmental milestones. In 2022 he enrolled in a clinical trial where he started to receive a well-known/established treatment call Spinraza. Spinraza is another type of medication that is administered through spinal taps which occur every four months.
William has made great progress during this clinical trial and the additional medication has been very successful for him as well as other children in the trial. The trial ending in 2023 and we have been working with our insurance to continue to cover these injections moving forward.
So, what does this look like in our day-to-day life?
William just turned 4 years old. This in and of itself is a miracle as most children who are not treated pass away by the age of two. He does not bear a lot of weight through his legs. He gets around minimally with a walker, mostly he uses a wheelchair or butt scoots. He does not crawl or bear a lot of weight through his arms. He is not able to get out of bed independently and needs additional assistance with daily life. Due to his lack of muscle, he is very small and often has a hard time fitting into clothes.
His condition is most noticeable when he is around his peers. In general, he is very stationary and is unable to independently stand, run and keep up with other children his age. This makes it difficult to interact with peers his age, especially in a large group setting such as a playground.
He attends physical therapy two times a week, occupational therapy once a week, and a variety of other appointments.
Despite these obstacles William continues to take everyday head on. He loves the GREEN BAY PACKERS, playing with his brothers, and spending time outside. He does his best to play football and baseball and enjoys pretending to be Spiderman. He continues to work hard to develop new skills and keep up with his friends at daycare. William has a wonderful sense of humor and a smile that will light up a room. William is truly paving the future of SMA, we cannot wait to see what barriers he breaks next.