What is cystinosis?
Cystinosis is a rare, genetic disease, which is mostly diagnosed early in childhood, usually before the age of two. It is autosomal recessive, which means that it is inherited when a child receives two copies of an abnormal gene, one copy from each parent. Because the parents each have only one abnormal gene,  they are not affected.

It is estimated that cystinosis occurs in somewhere between 1 in 100,000 to 1 in 200,000 live births.  There are 10 to 15 new cases of cystinosis diagnosed each year in Europe. The problem in cystinosis is an increase in many parts of the body an amino acid called cystine. This build up causes cystine crystals to form in many organs of the body. These crystals form firstly in the kidneys and the eyes, late complications can occur in muscles, pancreas, thyroid gland and in other parts of the body.

There is a specific treatment for Cystinosis, but there is no cure.  Research is ongoing and we are hopeful that new therapies may become available in the coming years.

Our colleagues in Cystinosis Research Network (USA) have published a Parent Handbook which might be a useful tool in supporting someone living with cystinosis.  Their website also has information on Managing Cystinosis.

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.