Working Life: Just 23 people on the island of Ireland live with cystinosis

Denise Dunne, head of operations, Cystinosis Ireland

Denise Dunne, head of operations, Cystinosis Ireland.

“Cystinosis is a rare genetic condition that very few people have heard of. It causes a natural substance called cystine to build up in the body’s cells over time. Normally, cells naturally remove cystine, but in cystinosis, the process doesn’t work properly. One of our paediatricians describes it as having a bin truck in every cell that is unable to collect its waste. As cystine accumulates, crystals form, which can affect every organ in the body.

“There is a medicine that can reduce cystine build-up and significantly slow progression, but it doesn’t stop it or reverse it. It does, however, help people live longer and healthier lives than in the past.