Cystinosis Foundation UK

 Patient Groups / by Jo McPherson / 132 views

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.