I was diagnosed with Gaucher disease when I was five years old. I was diagnosed after I had a bone marrow biopsy due to discovery that my spleen and liver were enlarged and pressing on my bladder.
When I was an adolescent, my spleen was removed. In 1990 I was 19 and involved in a car accident where my left hip and femur were smashed. A rehabilitation centre discovered that the head of my femur was now cube-shaped and had bone rubbing on bone. The pain was severe and debilitating and I was consigned to a wheelchair. A year later I had a total hip replacement.
Thankfully it was bye-bye to my wheelchair for most of the time. A few years later, I got married and became pregnant. The pregnancy was not easy but my son Josh has been a joy.
I had to have a replacement on my hip two years ago. Fortunately the other hip is okay although I do still suffer from some pain in both legs. I think you have to cope with pain but I take painkillers when I need to.
A year ago, I was involved in another car accident, a head-on crash. All my bones got worse and I damaged my gall bladder, which had to be removed. Sometimes you can control pain but if pain controls your life, you have to do something about it, so I had an operation to remove my gall bladder.
I started Ceredase enzyme replacement therapy in 1993 but stopped when I knew I was pregnant. I was then asked to take part in the Zavesca trial where I had some side effects. I then started on Cerezyme which I am still taking. Josh helps set up all the equipment every two weeks and my husband Lee sites the needle. It is a family effort.
For three years I have worked in the local school which Josh attends working with children aged four to seven. It’s important for children to learn how to deal with less abled people. The children I look after see me using a crutch and I joke that I have three legs instead of two. I tell them I would win a three-legged race and that I am a bionic woman. They see that there is nothing to be scared of.
I am now 35 years old. I travel with my family and get priority treatment because of my disability. Most importantly, I enjoy my life.
