On September 11, 2015 Alexander Enderlin came into this world smiling. He led the typical life of a newborn, meeting normal milestones, picking up his head while on his tummy, lifting himself on his arms and rolling all over the place. He was above average for his height but below average for his weight. Nothing was of any concern to us. As the months went on, his movements started slowing down and changing.
He wasn’t crawling. We noticed he easily toppled over while sitting and he reached for things by tilting his head back for balance. At one of our regular checkups, we asked the doctor if we should be concerned, but we were told he is fine, a content baby and that some babies develop slower than others. We were told he could have hypotonia or be a ‘lazy baby’. But we just knew something wasn’t right.
At Alexander’s 12-month’s checkup, we asked the pediatrician to run a blood test to figure out what was going on with our son. Test after test came back normal, but since we still had concerns, our doctor suggested a genetic test be done.
While anxiously waiting for the results of our son’s genetic test, we were randomly invited to attend the November 16th, 2016 Gala of Hope fundraising event for Cure SMA. Researching SMA minutes before walking in, we had no idea that this disease even existed. It wasn’t until we heard the testimonials of the parents and seeing the children that I knew right then Alexander could have this disease. My heart sank and my eyes filled with tears.
The news finally came on December 8, 2016. Alexander’s test results came back positive for SMA, Type 2. As devastated as we were, it was a relief to finally have a diagnosis for our little Alexander. I contacted Jenn, the local SMA Florida Chapter President to inform her about our son. We shared the news with her and she came to our house the following day. She answered all of our questions, eased our stress, shared her experience and let us know that there was hope of a treatment.
While we were navigating how we would live our new life, and shortly after Alexander was diagnosed, the FDA approved Spinraza on December 23, 2016. This was our Christmas miracle! We immediately submitted the required paperwork and were approved to receive his first treatment on February 22, 2017. Alexander met the criteria for Sprinraza and was the first baby in the state of Florida to receive the newly approved drug.
This year has been one of trials and tribulations, but as we steer down this road, the one constant has been Alexander’s smile. He’s kept us sane and grounded. Through all of the obstacles, spinal tap treatments, and physical therapy, he remains full of joy, laughter and resilience.