Information for Families
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.
These days with better understanding and earlier diagnosis, people with cystinosis are able to lead a longer, fuller life. Cystinosis Ireland is working to support 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.
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.
Parent Handbook developed by Cystinosis Research Network (USA)
Managing Cystinosis by Cystinosis Research Network (USA)
EuroGenTest leaflets on understanding genetic tests (Europe, available in various languages)
Information prescription for patients with cystinosis (UK) Information prescriptions contain information about the condition,
treatments, care services, benefits advice, and support groups. Developed by the Queen Elizabeth Hospital, Birmingham.
You may also find An Easy Guide to Rare Diseases published by the Rare Disease Taskforce (Ireland) a useful resource. It provides an overview of rare diseases in Ireland, outlines rare disease priorities for Government and tells 16 stories of people and families affected by rare diseases.
We’ve funded research into cystinosis to the value of almost €2 million in Ireland and worldwide.