Naomi has Fabry disease.
My name is Naomi, I am 12 years old and I have Fabry disease. Having Fabry disease takes up a lot of time. I have to go to lots of hospital appointments. Some of them are at Great Ormond Street Hospital and some are nearer at home in Cornwall. I have an enzyme replacement infusion (drip) every two weeks. This used to be in hospital but now we have a lovely nurse who comes to our house. My mum has been taught how to put the cannula in and I don’t even need the spray now. I also have other medicines for my Fabry disease. Fabry makes my hands hurt, I also have pain in my joints and in my head, neck and back.
For pain I take paracetamol, iboprufen and gabapentin. Sometimes the Fabry makes me have tummy problems where my tummy hurts and I need the toilet a lot! Since being on the enzyme replacement that has improved so much that I hardly ever need to take immodium. Fabry disease makes me also have dizziness – I think it is called vertigo but it isn’t about being scared of heights. For the dizziness I take a tablet called cyclizine. After my infusion I start to have more energy and feel lots better but by the time I need my next infusion I’m in lots of pain and am very tired. It would be nice if the infusion would make me completely better but it does make me feel so much better and before I started on it last May I thought nothing would ever help me feel better.