For 35 years I’ve been living with a rare, genetic disease called spinal muscular atrophy (SMA). This disease is progressive, causing the voluntary muscles to weaken over time. In addition, SMA causes severe curvature of the spine, which is a result of scoliosis. However, there are so many more complexities to this disease. It affects every aspect of someone’s life. It can overwhelm your finances, relationships, social life, living conditions, mental health, and so much more.
Growing up with SMA came with many trials and errors. There were several unknowns my family and I didn’t know how to prepare for. Watching the progression of this disease take place with each stage of my life was difficult to digest. Seeing my physical body gradually decline was disheartening for both my parents and me to witness. It was hard not to anticipate thinking about what will come next. And, sickness was one of those challenges that was a relentless fear in the back of our minds.
We knew the common cold could take the life of one living with SMA. And, when I did fall ill, the fight to survive was exhausting. Coughing up phlegm exerted every amount of energy I had inside of me. From what I could imagine, it felt like I ran a marathon, trying to catch my breath, but for hours at a time. What would take the average person to recover from a cold, would take me twice the time. And, watching the panic on my parents’ faces during those challenging moments was difficult to endure.
Now, in adulthood, sickness still continues to threaten my life. However, through several trials, terrifying moments, and many prayers, we have learned how to manage it with less uneasiness.
Read more about SMA therapies
But sickness isn’t the only solid challenge that comes with SMA. It feels like once you tackle one obstacle and get it under control, the next one festers. Things like transportation, finding reliable caregivers, maintaining proper nutrition, and a host of other things are in the everyday load that we carry.
In addition, SMA has opened up doors of unexpected concerns, especially where insurance is involved. It’s been a continual pursuit to prove to insurance companies I’m more than a simple code typed in the system. There’s a face behind the numbers that are often neglected, and should be acknowledged. Insurance puts strict stipulations on what benefits they decide to offer someone with a rare disease, such as SMA, especially if you marry, or divorce. However, those of us with rare diseases shouldn’t feel we need to lose out on the same dreams and desires the average person has. Often, our values and morals have to be undermined in order to receive the care we need.
I’m grateful to be able to voice the struggles I face and emphasize the importance of advocating for ourselves. February is Rare Disease month, culminating in Rare Disease Day on February 28. Cosponsored by the National Organization for Rare Disorders (NORD), its efforts to raise awareness about the unique, and often overwhelming, challenges that rare disease patients face are critical.
NORD is so important to my family and me because it generates awareness from a raw personal perspective, and who can understand an illness more than the one who is suffering from it?
And, despite every challenge I face, my faith in God has kept me grounded and has given me the zeal to experience life like anyone else. The path just might appear a little different.