What is Cystinosis?
What is Cystinosis?
Cystine is an amino acid of which Cystinotics possess too much.
Cystinosis occurs when the mechanism, which removes excess cystine, breaks down.
It then accumulates within body cells preventing these cells from functioning correctly.
(Recommended reading is "Cystinosis An Information Booklet for Families" by Geraldine Ward).
This initially leads to kidney problems and progresses to other parts of the body, including the
thyroid gland, eyes and liver. Impaired growth is yet another symptom of the condition.
In the past, it was rare for Cystinotics to survive into adulthood.
However, with better understanding and earlier diagnosis, it is possible for sufferers to lead a longer, fuller life. It is one of the Foundation's aims to help sufferers manage their Cystinosis effectively in order to lead a fuller life.
The BBC website has a good article outlining Cystinosis: What is Cystinosis?
And Wikipedia also has some information and further links concerning Cystinosis: Wikipedia - a definition of Cystinosis.
How Common is Cystinosis?
Cystinosis is a rare inherited disease with an incidence, in developed countries, of about 1 case in every 200,000 live births. This figure may not be entirely accurate since it relies on the condition being recognised and reported.
What Can We Do About Cystinosis?
Currently, there is no cure for Cystinosis. However, the Cystinosis Foundation UK is helping to support research that will help in finding a cure and improving the medicines we have to treat Cystinosis. Whilst Cystinosis manifests itself in different ways and its effects can vary in severity, medicines are available to help manage Cystinosis on a daily basis. But naturally, every individual is different.
What Support is There to Help Me?
In order to support families and sufferers, this section of the site contains various articles by researchers, doctors, sufferers and their families. It is our aim to help improve understanding of Cystinosis from all perspectives, so we may all live fuller lives.
We are always looking for new material for the website. If you wish to contribute to this area, please contact us.
The Cystinosis Foundation UK also looks to support sufferers and friends at a personal level and you can contact us for more information.
How Can I Help
Finally, you can help the Foundation combat Cystinosis through personal contributions or helping raise awareness or funding for the charity. Please see our Help Us section.