Gaucher disease taught me to never take things for granted

I’ve spent most of my life trying to blend in. As a teenager, and into my early 20s, that’s all I ever really wanted to do.

At 18 months old, I was diagnosed with type 3 Gaucher disease and given a life expectancy of 12 years. Of course, I have no memory of that day. But since then, as I grew older — I’m now 31 — it has shaped my outlook on life and made me more appreciative of every little moment, from seeing the sun rise on a hot summer day to experiencing the first snowfall of the winter.

My approach was simple: Do not stand out any more than necessary. I was already the center of attention, whether it was due to my slow eye movement or the mere fact that I had to grow up faster than my peers.

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I learned a few things quickly while growing up. Firstly, I had to grapple with the idea that my life would not look like anyone else’s. For me, this meant a series of doctor appointments and biweekly infusions. Of course, at the time, I didn’t understand the gravity of what that meant, or that this was my normal.

Secondly, I discovered that the world and the people around me are on a learning curve, and I’m often responsible for leading the way.

Lastly, no matter what happens or who I’m surrounded by, there will always be someone in the room who lacks understanding. As a result, what I learned about myself was always greater than what I learned about those around me.

Unexpectedly, my greatest teacher wasn’t one of my doctors or any of the others around me; it was the disease itself. Growing up “rare,” it was easy to feel different, but not in the way one might assume.

Sure, the way I went about my day was different. I would often experience extreme amounts of fatigue. That would require me to slow down and rest while I watched my peers carry on as if they had endless energy. At some point, I realized that my life would follow a different path from everyone else’s.

Gaucher disease has changed the way I view myself and the people in my life. It has always been important for me to have a team on my side. That includes not only doctors and physical therapists but also advocates and loved ones.

The biggest lesson from living with a rare disease is that life is worth living. It’s opened my world to a whole new set of possibilities. Sure, some days are better than others, but that doesn’t mean this big, complicated, unpredictable life can’t be as beautiful and chaotic as the life of the person sitting next to me. This disease is just one of the many things about me that make me unique.

I will continue fighting not only for my life, but also for the right to be seen as more than just the absence of an enzyme. In turn, I hope to become a little kinder, shine a little brighter, and bring joy to each room that I enter. If growing up rare taught me anything, it’s that I should never take any moment for granted.

Note: Gaucher Disease News 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 Gaucher Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Gaucher disease.

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