Cystinosis is a rare disease - it causes problems with an amino acid that can crystallise in the cells and cause organs to shut down. It is not a case of if but when a child will need a new kidney to survive.  Most don't lead normal lives, and the ones they have are marked by sickness and pain.

A True Account

When our second son started losing weight and drinking lots of water I knew that there was something wrong. He was four months old when he started to show these symptoms. It was because of my continued persistence at the health clinic, over the course of the next four months that eventually they agreed to test his urine. That too was to reassure me that there was nothing wrong! At that point we ended up at the Children’s Hospital where we were told that he had kidney problems.  It was about ten days later when they told us that the kidney problems were due to a rare condition called Cystinosis.

The words ‘no cure’ stayed with us for a long time. ‘Cystinosis’ and ‘metabolic disease’ were foreign words to us back then.

We quickly learnt how to give medication and which order to give it so that our son would be less sick. He was given medication to replace the salts he was losing through his damaged kidneys at least four times a day. He was also given a drug called Cystagon every six hours to slow the build up of cystine crystals in the organs. It’s difficult trying to give your child a medicine which makes him violently sick and at times causes him to bruise easily. This drug needs to be given as close to the six hours as possible - that means overnight too. My child has a disturbed sleep and I end up functioning with half a brain. We are constantly tired and lack of sleep does not help!

At a year old he was tiny and he needed to gain weight. A naso-gastric tube was inserted and he was fed via this tube for a year or so. Then doctors cut a hole in his stomach and inserted a feeding tube.  He can now be drip fed through a gastric button overnight to help him gain weight. This feeding method will stay with him until he starts to eat to maintain his weight.

Our son has adapted well to life; despite being poked and prodded so much for blood tests and various other tests he just seems to get on with it.  He is a  little boy who wants to be as normal as possible and sometimes complains that he wants to be like other children.   He is at that age now when he asks ‘why have I got cystinosis?’, ‘why am I always hurting’, and ‘I want to be normal’. We have always told him the truth about his condition ‘yes you do have cystinosis and you have to take lots of medication’. We tell him that he is special and loved. He has been through so much - to me he is the bravest person I've ever met.

 

We have now got together 10 people running for Cystinosis Foundation and hope you will support us in our dedication to help this charity.

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