Cystinosis

[Rmatthew]

Hi, hope you are all doing well. I’ve just been curious if anyone on this page has/or knows someone who has the kidney disease I have, it’s called cystinosis. I’ve only ever met one other person with it. I’m from Scotland so would be really interested if anyone else on here has the same condition.

Thanks!

[Kbristow]

Hi Rmatthew. I had never heard of cystinosis. I'm curious how you were diagnosed and what symptoms you experience if any. From what I'm reading it's a rare genetic disease. Is anyone else in your family affected? I hope you are getting good care from doctors who are knowledgeable about this form of kidney disease.

[Rmatthew in reply to Kbristow]

Hi! Yes it’s a rare genetic disease, as far as I know it was passed down and missed generations of my family until I got it.I was diagnosed when I was around 2 years old, and have lived with it for 25 years now. It basically cystine crystals that attack the vital organs (for me it’s been kidney and thyroid), thankfully I’m on medication that keeps them at bay. And I see the specialist yearly for this.

As far as I know, I was diagnosed because by the age of 2, I never crawled or even attempted to crawl by that age. And then when I was in hospital they done tests on everything and that was the results was cystinosis, and from then they wrote a couple of books from observing me as the years went on.