Hi, my name is Laura. I am 15 years old and I have Fabry Disease.
At a family meal when we were all together with my brothers, Mum and Dad told us that we needed to go to the hospital for a blood test. I cried all over my dinner because I said that I didn’t want to have a disease. I didn’t know what to think about it as I had never heard of it but I found out that I had Fabry’s when I was 11 years old.
When Mum told me that my eldest brother Robert didn’t have it I was jealous. Not because I wanted him to have it, but because I did. My other brother James was also diagnosed and my cousins, Stuart and Lee. I felt that everyone around me had it as I am very close to my cousins. They used to live with us when I was younger and I see them very often.
I usually don’t mind going to hospital in Cambridge because I like the staff – they are kind, friendly and look after me. Mum arranged the visits to Addenbrooke’s Hospital with my two cousins and my brother and we have a fun time doing lots of different things. We would go punting on the river at Cambridge, bowling, cinema and Duxton Air Museum. We would always make our hospital visits a family time of being together and having a good time which made the tests and the waiting around in hospital more easy going.
I do not have many symptoms but sometimes I get shooting pains in my hands and a ringing in my ears. I sometimes get chest pains as if someone is sitting on me but they go away after a while. I also often get dizzy when I stand up but it soon goes and I feel fine.
I didn’t want my parents to tell the school because I didn’t want them to treat me different from everyone else. I didn’t think that the school needed to know but maybe it is a good thing that they do know because if I do feel unwell they have a history of my background.
I hadn’t told any of my friends about Fabry’s, no one, because it is my business and they don’t need to know about it. I am not ashamed of it, it isn’t my fault. It is just a part of life and you have to learn to live with it.
Everyone should know whether they have a genetic condition because sometimes if you are ill then it’s good to know an explanation for it. If you don’t know, then you are deprived from treatment.
I know it is a decision for parents whether they tell their children or not, or when, but I believe that children have a right to know and that it can be talked about openly within the family. It shouldn’t be a stigma or making it out to be a big thing. The more you talk about it, the easier it is to accept it and it becomes like everything. If you don’t talk about it you make it harder for everyone and escalate everything that is associated. I would feel angry if I found out in adult life that my parents knew I had a condition and never told me, whether I was suffering symptoms or not.
I know that I can talk to anyone in my family about it and get help.
My brother has ERT treatment and he just gets on with it and I suppose I would be the same.