My husband and I have two sons, Mason and Miles. When my younger son, Miles, was around one, we noticed he didn’t seem to be able to bear weight on his legs, and he started missing milestones like standing and walking. We suspected that something was wrong, so we started seeking specialists and began testing. Six months later, when Miles was 18 months old, we were given the diagnosis of spinal muscular atrophy (SMA), a rare degenerative neuromuscular disease.
We were blindsided by the diagnosis of a genetic disease that no one in our family had ever heard of or had. We were thrown into the deep end of the rare disease world, overwhelmed with all there was to learn, searching for information, managing doctor appointments and therapies while simultaneously caring for Mason and Miles. It was, truthfully, the hardest time in my life. It took a lot of faith, soul-searching, and courage to pick ourselves up, choose hope, and move forward. But once we got back on our feet, we were full speed ahead, working to figure out what we could do to help our son.
We got connected to the Cure SMA organization and discovered that we were fortunate to have an organization focused solely on SMA, as we realized not all rare diseases have a dedicated disease organization. We learned about a clinical trial that looked promising, and when it began enrolling a new phase for which Miles met the enrollment criteria, we raised our hands. Miles was losing strength, and he needed a medical intervention– fast. It was a blind study, but we could see pretty clearly early on that Miles was receiving the drug – he was regaining strength, and we were seeing progress.
Miles is doing really well overall. He’s grown, regained strength, and has more functional mobility. He never stops trying new things and setting new goals for himself. He goes to school, is very social, has a great sense of humor, is quick-witted, and often tries (successfully) to outfox us. We have a lot of hope and feel fortunate to dream about his future and how it might evolve.