My Cystinosis Story by Gracie Smith

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Hello! My name is Gracie, I’m 21 years old, and I have a rare disease called cystinosis. Cystinosis is a disease that causes cystine buildup in certain tissues and organs one of the main ones being the kidneys. I have a little brother who has cystinosis as well. He makes going through life with this rare disease a little less lonely. It’s so crazy how different ours stories are even with the same disease. 

I was diagnosed with cystinosis when I was 2 years old. The doctors tested me for EVERYTHING. I was very sick at this point; the last thing they tested me for was cystinosis. The doctors were quite sure I didn’t have it but a few days later, they told my parents that I came back positive for cystinosis. My journey has been no walk in the park, and everyone’s journey is different. So I hope you enjoy hearing mine.

Cystinosis mainly affects the kidneys and eyes which means most people living with cystinosis usually expect to need a kidney transplant by early adolescence. I went on dialysis in June of 2011 and shortly after went into congestive heart failure. I had my transplant at the age of 10, on April 1st, 2012 (yes, my kidney’s birthday is April Fool’s Day!) Thankfully after I got the transplant everything resolved itself. Since my kidney transplant I’ve been healthy and happy although I have had some difficulties with this disease, as any rare disease.

Another thing about cystinosis is, we take medicine to try and stabilize our cystine count, this medicine has lots of sulfur = causes you to smell. As you can imagine, in the summertime you’re all hot and sweaty, let’s just say summer was my least favorite season for the first 13 years of my life (now they make a medicine to counteract the smell). But with that came bullying, not only for the smell but also for my height since cystinosis can cause people to be shorter. 

This May 7 is the 6th annual CYSTINOSIS AWARENESS DAY! There’s around 2,000 people with cystinosis worldwide and only bout 600 of those living in the United States. May 7th represents the most common cystinosis mutation: 57-kb deletion. 

Having cystinosis has impacted my life in many ways; I know what it is like to be a child and be sick. I know the feeling of seeing other kids doing things that were definitely a lot harder for me to do, and looking back I knew I always had it in me. I feel that dealing with the sickness, I can follow my life long dreams to help other children to overcome their health problems and maybe make them feel less alone in whatever they’re battling. I know what it is like to go to the doctor and be scared, or be too sick to care. I know what it’s like to feel alienated among friends but growing up and looking back, the true friends never saw me as different; they saw me as a fighter with the wild personality to match. By pursuing a career in healthcare, I hope I can encourage other young ladies and young men to see that as well.

In 2019, I received a scholarship from the CRN in support of that dream. If you are living with cystinosis, see if these resources could help you.

Cystinosis and all of its endeavors can be a lot at times. It’s so important to have a good support system. Not only my parents, and my brother, I’ve also reached out and have been reached out to regarding cystinosis. It’s always nice to know you’re not alone in this battle. 

Cystinosis has definitely knocked me down, brought me a few tears here and there, and put me on my knees a few times, but I don’t believe that I would be half the person I am today without cystinosis. Thank you so much for reading along! I hope you learned something about cystinosis and enjoyed hearing a little bit about my journey!