I and two brothers have Pompe disease. We were unlucky in our family that three out of four children inherited the condition. My parents are finding it difficult to see us getting weaker but know we are lucky to have enzyme replacement therapy (ERT), which helps.
Not muscular dystrophy
My eldest brother was diagnosed with a muscular dystrophy when I was a toddler. I had muscle weakness when I was 12 and starting secondary school. When I was 18 and my brother was 24 I noticed that I had similar symptoms to him and saw Dr Shortland in Cardiff who diagnosed me with Pompe.
Pregnant when diagnosed
I was pregnant when I was diagnosed. ERT was new in those days so I was advised to wait until after my son was born, then I started ERT. Now most pregnant women continue with ERT through pregnancy. My pregnancy went smoothly but I had to use crutches as the birth got closer and I got heavier.
Being a mum is my biggest joy in life and I am very grateful to have my family. My son plays rugby and also boxes, so I enjoy watching him. From a young age he has known that I could not pick him up as much as I wanted to. He always understands, especially when I have a bad day. He goes to the shops for me, helps me with cleaning and is a really fantastic little boy. He is interested to know more and understand about my condition.
Communication is key
Having Pompe has taught me to value every day for what it can bring. I would advise any newly diagnosed person to research as much as possible and talk to other people for advice. Communication is the key to dealing well with Pompe disease.