Cystinosis is a rare inherited disease occurring in about 1 in 200,000 births within developed countries. It occurs when the mechanism removing excess cystine (an amino acid) breaks down.
The Cystinosis Foundation UK aims to:
- Provide support to all diagnosed with cystinosis, their families and relatives.
- Provide relevant, accessable and up to date information about the disorder, as well as advice on specialist sources of help for new symptoms developing in patients.
- Publish containing relevant information for patients and supporters will be produced regularly.
- Organise or participate in conferences relevant to cystinosis.
- Support research into the treatment of cystinosis.
In January 2022 M4RD featured Cystinosis on #MysteryMonday, covering the basics to help medics and HCPs be more aware of this condition. You can view the highlights here.