\u201cCystinosis 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\u2019s cells over time. Normally, cells naturally remove cystine, but in cystinosis, the process doesn\u2019t 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.<\/p>\n
\u201cThere is a medicine that can reduce cystine build-up and significantly slow progression, but it doesn\u2019t stop it or reverse it. It does, however, help people live longer and healthier lives than in the past.<\/p>\n
\u201cIt\u2019s not the easiest medicine to take because timing matters a lot for effectiveness, and routines must be carefully planned. Side effects can include nausea, vomiting, body odour and bad breath.<\/p>\n
\u201cPart of the disease is that the kidneys are unable to process waste effectively, so children with cystinosis experience excessive urination and soak through many more nappies than usual, day and night. They are also very thirsty and are typically diagnosed between six months and two years old.<\/p>\n
\u201cWith cystinosis, supplements are needed because the kidneys can\u2019t properly absorb nutrients and minerals back into the body. Between medications and supplements to replace lost electrolytes and minerals, you could be taking 30 or 40 tablets a day.<\/p>\n
\u201cWhen you are dealing with a rare disease, it\u2019s always a challenge to build a community, so it\u2019s important to be part of a global network to build expertise and support systems. Just 23 people on the island of Ireland live with cystinosis, and about 2,000 worldwide. Being part of a global organisation like Cystinosis Network Europe strengthens advocacy. Most of the research on cystinosis is funded by patient organisations and charities like ours.<\/p>\n
\u201cBy having access to a global network, doctors and scientists can collaborate across multiple countries, which is crucial when patient numbers are low. This speeds up understanding of the disease, helps develop better treatments, and we hope could improve access to clinical trials.<\/p>\n
\u201cFor work-life balance, I run, very slowly, and I absolutely love sea swimming at Sandycove and in the 40-foot.\u201d<\/p>\n