Welcome to Cystinosis Ireland. You will likely have been told about our website if your child or someone in your family has recently been diagnosed with cystinosis. Cystinosis Ireland is here to support you this new part of your life.
What is Cystinosis?
As you now know, 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) from the cells breaks down. There is a very useful video from the National Organisation for Rare Disorders linked below which explains the condition if you would like to share it with family, friends or others in your family's support network.
These days with better understanding and earlier diagnosis, people with cystinosis are able to lead a longer, fuller life. Cystinosis Ireland invests in research into better treatments and ultimately a cure for this condition. We also work to support people living with cystinosis and those who care for them.
You will have been given information on treatment of the condition by your medical team. While Cystinosis Ireland cannot give information on medications, our organisation has resources to help you and your family better understand the disease and live as well as possible with the condition. When you are ready, we have a closed family Facebook group you are welcome to join which offers peer to peer support and advice. You can contact our support team by email at SupportCommittee@cystinosis.ie or mail@cystinosis.ie
Useful resources
Our colleagues throughout the world have developed many useful resources which you might like to look through. Please check out the links below and we would be happy to talk to you about anything that isn’t addressed in these publications.
All resources are linked below.
National Organisation for Rare Disorders (NORD) video explanation of Cystinosis
Parents Cystinosis Handbook from Cystinosis Research Network
Management Cystinosis by the Cystinosis Research Network
Prescription information for patients with Cystinosis (UK)
An Easy guide to Rare Diseases in Ireland and Consensus for Action
Latest News
Prof Roz Anderson Memorial Prize winnner 2024
Cystinosis Ireland is delighted to announce the winner of the 10th Annual Dublin Cystinosis Workshop, Professor Roz Anderson Memorial Awardto Sante Princiero Berlingerio of KU Leuven, Belgium presenting his work “Targeting oxidative stress-driven lipid peroxidation improves podocyte dysfunction in cystinosis”.
Human Tissue Bill 2022
Cystinosis Ireland, a member of the Irish Donor Network, warmly welcomes the passage of the Human Tissue Bill 2022 through the Dail. The Bill will now go to the Seanad for consideration. The passage of the Human Tissue Bill 2022 will allow for better regulation of human tissue use in Ireland and provides a comprehensive legal framework for the donation of organs for transplantation, including introducing “soft opt-out”.
€3million research funding!
Cystinosis Ireland marks 20 years of supporting the Irish cystinosis community and investing €3million in research funding