Hoping for a Better Future

Since I was a baby, I have always had SELENON, had mild but noticeable symptoms, but it took 13 years to be diagnosed. I experienced shortness of breath, weak neck control, fell a lot, couldn’t run, and lost weight easily. My first medical diagnosis was scoliosis at age 10. Wearing a back brace suffocated me and unexpectedly sent me to the hospital for two months. After overcoming pneumonia, a lung collapse, and 3 surgeries, doctors started testing me for neurologic and muscle diseases. At age 13, I was finally diagnosed with muscular dystrophy and at age 18, I was diagnosed with SELENON. 

It’s been 17 years since my medical trauma and every year I am learning and adapting to new things. From biannual checkups at the MDA clinic to respiratory checkups every two months, and everything in between, I am on top of it. My weakened core muscles took the biggest hit therefore I require invasive breathing assistance via trach tube when fatigued, lying down, and for sleeping. My weakened breathing muscles have made it hard for me to clear my airways therefore I'm very susceptible to lung infections. I was never able to run and always had difficulty with stairs and walking long distances. I can dance and walk still, but this varies based on my breathing difficulties and fatigue. After having a spinal fusion, my scoliosis has given me the least discomfort, as long as I am careful. Every day neck pain, occasional shortness of breath, and digestive issues have been my newest challenge. 

The perseverance from me and my family has had to be constant. I dealt with a lot on my own for years, and my family and friends have supported me to continue to get the care I need. I believe sharing our stories can go a long way for another family seeking diagnosis and support. I hope that by continuing to share our stories, further educating ourselves and medical professionals alike will go a long way. Everyone deserves to be heard, believed, and treated with care. 

I hope to see more support, research, clinical trials, and treatment. I’m hoping for a better future while also hoping we have comfort and care in the present!

- Stephanie