Rare Diseases and Flying Under the Radar to Pleasantly Surprise People

To those feeling too rare on Rare Disease Day (Feb. 28) let the following empower you.

The saying “hidden in plain sight” can take on a new meaning when you have a rare disease. I’m rare because I have a huge wheelchair and tracheostomy, but that doesn’t mean I’m always visible. Not that people don’t like rare, but sometimes on a subconscious level, when someone is different, it’s easier to be glanced over by others rather than included.

I have spinal muscular atrophy (SMA). One in 6,000 to 10,000 babies are born with SMA, which is considered the top genetic killer of infants under the age of 2. I have the most common type, Werdnig-Hoffman. This type, also called SMA type 1, accounts for 50-70% of all children diagnosed with SMA.

Reading all those statistics, do you still think that SMA is a rare disease? The high death rate for SMA type 1 sometimes makes us rare. Thankfully, in 2021, our life expectancy is increasing more and more, and new treatments are available to preserve lung function for all types of SMA.

In the early 1980s, when I was born, most doctors could not figure out how to prevent respiratory failure in infants and toddlers with Werdnig-Hoffman disease. But something rare occurred for that era when I was 7 months old: My parents found a very special hospital that offered experimental treatments.

As I mentioned previously, for several years in the hospital, I was cared for by a close team of medical professionals. Instead of life excluding me, this team wanted to include me in a life of hope. Instead of being rare and alone in their eyes, I was practically adopted by these professionals. When I cried in pain and fear, they cried. When I laughed, they laughed. This approach was key to my survival.

When I was ready to start school, for a little while, I was rare again. I was the first child to attend public school in my district with a trach. I missed most of kindergarten because my parents were trying to get the court to allow me to attend school.

When I finally got in the classroom, most kids welcomed me with open arms. It’s true, most small children don’t see the differences in others. They certainly didn’t see my trach and wheelchair until the fifth grade.

One day, the physical education (PE) teacher popped into the classroom saying, “Hey, kids, let’s go play some sports outside!” Soon I was left alone with no playmates. I’ve thought of that day as the day I started to become rare again.

We had recess many times before, and I would be outside with kids. Yet, that was the day when other students started to focus more on people’s physical abilities, rather than mental abilities. PE is a critical part of education, and I don’t blame anyone. Still, my being rare again lasted all through high school and college.

Kids need physical sports for their bodies’ health. There are also mental sports like chess and debate club. I don’t think my school had these. Hopefully, more schools will provide both physical and mental sports, which would have made a difference for me.

During those years when I was “undetected,” I was flying under the radar. I studied what made people laugh and cry. I learned how people reacted to different things.

To this day, I continue to learn. These skills are invaluable to me when I do advocacy for lifesaving services. If I want, I can touch the hearts of legislators with the videos I make supporting home-care services. At other times, I can make an audience laugh with my advocacy presentations. Nothing gives me more pride when I do this.

It was painful not being seen for years, and sometimes I’m still not. It just means that I can surprise people all the more when I show what I can do. The more I do this, the more people can see me again, and then I’m not so rare anymore!

During the pandemic, I have continued to do advocacy presentations virtually. Plus, all of you can see the real me when you read my column.

The next time you see a person with a rare disease sitting in a corner, believe me, they are taking in more of the world than you think. When COVID-19 is over, you will be seeing us back in the community more than ever before, and we’ll be rare no more. Be pleasantly surprised when we change the world for the better!

Now that’s a reason to celebrate Rare Disease Day on Feb. 28.

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Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today, or its parent company, Bionews, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.