My journey with Cystinuria has been a rocky road to say the least (pun intended).
I had my first kidney stone at 9 months of age when I was a baby and had my first surgery in Santiago, Chile. The stone was the size of an olive seed so you can imagine the type of impression that left on my parents.
It took many doctors and consultants’ research for them to diagnose me with Cystinuria officially when I was 2. To be honest, my prognosis didn’t seem positive as there was such little information about this. With this and many other reasons, my parents decided to move to the U.S. to have better health outcomes.
I have endured many surgeries, interventions, and days and nights at the hospitals both in Chile and the U.S. With humor, hope and faith, I have been able to keep persisting, as many others have too.
The process of living with this chronic illness has taught me many lessons. I’ve figured out that we need a great deal of patience and perseverance, as we never know the trajectory and what turn of events may awaits us between a stone episode. It’s also greatly important to learn what our rights are as patients, understanding how to explain our disease, and feeling confident to advocate for ourselves. It’s really a full-time job that brings some highs and some low moments.
As I’ve gotten older, I’ve become more open to speaking about how it is living with this, because it definitely impacts our everyday lives—but certainly doesn’t define us as individuals. I’m inspired by my International Cystinuria Foundation support group (shout out to the stoners ?), as well as online chronic illness movements and activists who authentically share about their struggles with discipline, medicine, mental health and their overall needs.
We are not alone in this and I’m reminded of the beauty of community, storytelling and vulnerability. It wasn’t until I was an adult that I met other Cystinurics. I have Dr. Gupta at Mount Sinai in NYC to thank for that after he invited me to a special meet up for us. I remember hearing people of all ages and backgrounds sharing about their stories in a very intimate way that we could all think, “No way, same here!” I am forever grateful for this memory because it brought me a hope for the future and a sense of deep solidarity I had never experience with this rare disease.
I don’t think I would be where I am without my support systems including my family, coworkers, friends and of course medical professionals. Although one never wants to burden them with the heaviness of a disease like this, we can’t deny nor take their help for granted. I am forever grateful to those kind folks’ kindness and understanding–you know who you are.
We are all stronger together, especially in calling for more research to be done, finding breakthrough solutions, seeking investments in rare diseases, and demanding accessible and affordable healthcare. I wish nothing but strength to keep going for my fellow persons living with Cystinuria. Don’t rock too hard!