Every 2 weeks, my treatment reminds me I have Gaucher disease

Most of the time, I forget I even have Gaucher disease.

I don’t wake up feeling sick. I don’t move through my day with pain or obvious limitations. I work, take care of my family, make plans, and lead a full and busy life. If you passed me on the street, nothing would suggest that my body carries a rare genetic disorder.

But then, every two weeks, a nurse knocks on my door, sets up an IV in my living room, and I remember.

For a few hours, my ordinary home takes on a slightly more clinical feel — medication laid out on the counter and tubing carefully taped to my arm. My schedule shifts around this regular visit, a quiet but consistent reminder that, while I feel healthy, my body still relies on ongoing treatment to stay that way.

What stands out to me most in those moments isn’t frustration, though. It’s gratitude.

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Giving thanks

I’m grateful for modern medicine; for the scientists who spent years studying a rare disease that few people have even heard of; for the clinical trials, the research, the failures, the breakthroughs, and the persistence that led to a treatment that allows someone like me to live a completely normal life that, not so long ago, would’ve been impossible.

I think about what Gaucher disease meant just a few generations ago — the complications, the suffering, the lack of options. I think about people who lived before enzyme replacement therapy existed, before there was a way to manage this condition, before there were home infusions and supportive medical teams. The contrast is staggering. The fact that a nurse can walk into my home every two weeks and, in doing so, silently protect my organs, my bones, and my future, feels nothing short of miraculous.

These infusions don’t make me feel sick. They are the reason I feel well. They are the reason I can run after my child, make plans months in advance, and imagine a long, healthy future. They are not a reminder of my limitations, but a reminder of what is possible when knowledge, research, and compassion come together.

So, every two weeks, I remember. I remember that my health is not an accident. I remember the thousands of people, past and present, who made this treatment possible. And I remember to give thanks for the science that allows me to simply live.

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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