I have Cystinosis - Chronic Illness Convos

Published on August 13, 2026 at 12:02 PM

I have Cystinosis; what does that mean?

Hi guys, this is a start of my series where I share my story with chronic illness. I have cystinosis, which is a rare disease and a genetic condition. My sister also has this condition and it is something we both have had since we were only small children. 

What is Cystinosis?

Cystinosis is a genetic condition in which an amino acid called cystine builds up within your cells. Too much cystine can damage your cells. It causes crystals to form that accumulate and then cause issues in your organs and tissues. Cystinosis most often affects your kidneys, eyes and muscles.

Why is it rare?

It is rare due to the fact it only affects 2000 worldwide; 23 in Ireland. It is so important to get awareness for rare diseases so people can understand how those with cystinosis are affected. It can lead to important research that can provide individuals with treatments/medication to make life a little bit easier! 

My story 

I was diagnosed at 8 months and have taken various medications from then to now. I had a kidney transplant in 2018 and continue to struggle with various symptoms that affect my day to day life. 

I have regular hospital appointments to manage different aspects of the condition. 

Cystinosis Ireland Charity 

Cystinosis Ireland are an amazing organisation that provide support for families and individuals living with cystinosis. I am lucky to work with them on their social media content. They focus on four main areas; support, research, fundraising and awareness. 

Please visit their website and social media accounts and support them in anyway you can. Their work is close to my heart and I only hope to continue to raise awareness for my condition. 

Website: www.cystinosis.ie

Thanks for much for taking the time to read my blog. Tune in for my next chronic illness convos soon :)

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