While living with cystic fibrosis, every day is Rare Disease Day for me

I live with a rare disease. It seems strange to say that because it’s not so rare to me. Living with cystic fibrosis (CF) is the only life I’ve ever known.

When I was born, researchers hadn’t yet discovered which gene was affected by CF or what chromosome it was located on. Now, more than 2,000 mutations of the CFTR gene have been identified. Researchers have made several advancements in treatments since then, including CFTR modulators, which have dramatically transformed CF care on several levels.

Still, I’m so rare that my own gene mutations are among the 10% of the CF population for which modulators do not help. I won’t go into how disheartening it is to see others living relatively normal lives while a small group of us watch on the sidelines. Just know that we’re still out here, waiting on our miracle drug.

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The need for greater awareness

Some diseases remain at the forefront of our minds because they affect many people. Through ad campaigns, celebrity endorsements, and corporate support, these diseases take center stage and receive more funding for research, clinical trials, and support groups. I don’t mean to suggest that getting more attention diminishes their seriousness. It’s not a competition. No disease should be celebrated.

But Rare Disease Day asks us to focus on disease communities that don’t often get much attention. Awareness is highlighted, stories are shared, and education is spread — all good things, of course.

Despite days being set aside to observe them, a lack of awareness about rare diseases remains. There is less research, funding, and advocacy. This is the disheartening and frustrating disconnect that I’ve witnessed, especially being among a minority of a population that is already a minority.

Many people aren’t aware of rare diseases until they are personally affected by them. Because there’s not much publicity, that’s to be expected. We don’t know what we don’t know. I didn’t know much about other rare disease communities until I connected with them.

It’s impossible to have the bandwidth to know about everything. That’s totally valid, and I feel that on a soul level. For that reason, I’m grateful, ultimately, that days like Rare Disease Day exist. The day is an opportunity to bring attention to disease communities that don’t reside in the mainstream and to open the door for conversations that wouldn’t happen otherwise.

Since a rare disease affects me so profoundly, it’s important to me to advocate for greater awareness. I believe that hearing from people with rare diseases helps us all better understand their experiences, and educating others helps to ensure that people who live with rare diseases have better representation and are treated as equals.

My world has been shaped by CF and will always be filtered through that lens. This is the reality of life with a rare disease. It doesn’t feel like it’s enough to have just one day of awareness, as CF is always at the forefront of my mind. But my hope is that having even this one day will help make the stories we tell matter to the people who hear them.

Note: Cystic Fibrosis 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 Cystic Fibrosis News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to cystic fibrosis.