Ryley - Cystinosis
Ryley has Cystinosis which means that his organs store the amino acid crystals, that we all have, rather than break it down as usually happens. Because his body does not break it down, it damages the organs. It starts with the kidneys but then it can affect the brain, the eyes and muscles. He has to have medication every 6 hours to help break down the cystine, which doesn’t necessarily get rid of it, but helps to prolong his life.
“He was quite late when he was diagnosed as he was 3 ½. They usually start presenting at around 18 months with constant vomiting, failure to thrive and things like that whereas Ryley was the complete opposite. There was no vomiting and he was actually too big for his age. Apart from his size we were not at all concerned. We initially noticed there was something wrong when he started drinking too much. The doctor checked his urine and found sugar and protein. Initially they thought it might be diabetes, but his sugar levels were all fine. It took about three and a half months to get diagnosed. When they told me that he had Cystinosis, I had no idea what it was and because of the name I originally thought it was something to do with cysts but then when they explained the condition and said he’s going to need a kidney transplant, that’s when I realised how serious it actually was.
Ryley now has blood tests at hospital every 4 weeks. We were very keen to raise awareness because Ryley does not present with the usual symptoms and so there could be other people out there who do not realise they are affected.
The geneticist has confirmed that both Chris and I are carriers which we had no idea about. There is a 1 in 200,000 chance of a couple who are both carriers getting together. It means that if we were to have another child, there’s a 1 in 4 chance that that child would have Cystinosis as well.
When Ryley was diagnosed, we were given a leaflet and they mentioned that there was a Facebook group, which has been really helpful. Most of my information has come from other parents and the experience that they’ve had.
Without the medication that he’s on, they say that he won’t survive past the age of 10, so obviously that’s given him a longer life, but as he gets older it is progressive. He suffers with aches and pains all over his body and they constantly check his main organs to ensure they are not affected. It is a case of taking each day at a time rather than thinking about the future. Transplant is the next step, so we’ll deal with that, get that done, and then see what comes up after that. That’s the only way we can deal with it really.
When we were given his diagnosis we weren’t actually expecting it, Chris was at work and so it was lucky my mum was with me. It hit me like a tonne of bricks and I just burst into tears as soon as he mentioned transplant; since then though I cope because my main focus is Ryley. I just kind of deal with it, because I have to. Don’t get me wrong, I do have a cry every now and then but I don’t really have a choice other than to just get on with it.
It is hard to constantly explain the condition to everyone. Because it’s so rare, it’s not talked about every day. If we’d have heard about it, I probably would have gone to the doctor and said I think he’s got this and it would have sped up the process and we could have started medication earlier. I think being aware is a major turning point for this condition.
Trying to manage everyday life as well as his condition is exhausting. He has to have his medication every 6 hours, including through the night so I’m like a walking zombie half the time. We have to constantly keep up to date with all the treatments and my relatives are always amazed by how much we know. When he is poorly and has to go to hospital, we are often having to explain his condition and make decisions about his treatment with the doctors.
Ryley copes incredibly well, he’s absolutely amazing. He does get fed up. He’ll have a little outburst and be like, it’s not fair, why do I have to have my medicine, but then he’s fine. It’s a good job he is laid back, otherwise we’d have a battle on our hands.”