Living with Type I

Julie's Story

"You can’t feel sorry for yourself"

Julie walked down the aisle aged 24 as a beautiful bride with the aid of a stick covered in fl owers. She was diagnosed with Gauchers disease when she was five. This is her story:

I was diagnosed with Gauchers disease when I was fi ve years old. I had very weak bladder control and couldn’t get to the toilet in time. Some people said it was psychological because my sister had just been born but it was discovered that my spleen and liver were enlarged and pressing on my bladder. The doctors fi rst thought it was leukaemia although I looked very well but after a bone marrow biopsy, Gaucher disease was diagnosed.

When I was 14 years old, my periods started and I bled so much that I had to go into hospital several times. I went on a contraceptive pill, three times a day, but that was unsatisfactory andit was decided to remove my spleen. After that, my blood levels stabilised to a certain extent.

In 1990 I was 19 and involved in a car accident. My left hip and femur were smashed. Despite my leg being repaired with metal pins and plates, it did not mend like other people’s did. I was in pain but some said I was imagining it. I was sent to a rehabilitation centre, which diagnosed that the head of my femur was now cubed-shaped and I had bone rubbing  on bone. The pain went all down my leg and I could not put any weight on it. I was consigned to a wheelchair.

A year later I was advised to have a total hip replacement. I was told I would still have to spend 50% of my time in a wheelchair as I had lost the ability to bend my hip and knee.  However I had a lot of physiotherapy which included stretching the muscles in my hip and knee so I could get away from a sitting position and stand easily.

Thankfully it was bye-bye to my wheelchair for most of the time. I married Lee in 1994 and discovered, almost a year later I was going to have a baby. The pregnancy was not easy and I went into premature labour at 24 weeks. Fortunately my pregnancy lasted until 35 weeks when I had an emergency Caesarean section. My son Josh has been a joy. Children seem to know how  much you can or can’t do for them and he never expected me to do anything I could not do. As soon as he walked, he never needed a pushchair, which was a great help to me.

I had to have a revision (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. The only adverse effect I had was that when I drank milk, I got diarrhoea. I was alright on cream or cheese but milk was a problem. The trial ran for a year and I continued for another few months until I was told to stop. Josh would come with me and help Nim, the research nurse at Addenbrooke’s Hospital,
put my blood through its tests.

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.

Work and Life
For three years I have worked in the local school which Josh attends. I collect children from the bus, work in the office in the morning, look after the children at lunchtime and do voluntary work in the classroom in the afternoons. The children’s ages range from four to seven years old.

It is 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. Next year a little boy with an artificial leg will start at the school.  I hope that my example will help him integrate with the other children more easily.

I am now 35 years old. I travel with my family and get priority treatment because of my disability. My family say other people look at us as if we are celebrities. I came to the fund raising dinner at the House of Lords in June and the Family Day in September. I enjoy my life.