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Shevi is 14 years old and has Gauchers disease. Her mother is a founder member of the Association. Shevi's courage and positive attitude to everything she has gone through, and her return to full health, has been a constant source of encouragement to those who know her. Here she tells her story:
Just after my 6th birthday, I woke up one morning with my left hip hurting me. I limped downstairs and told Mummy. She took it very lightly as I had only very rarely been ill before but, when I could barely get down the stairs that evening, my parents called doctor after doctor until they found one who could come. He examined me and gave Mummy and Daddy the name and number of another doctor to go to the next morning.
The next morning, Mummy, Daddy, a bunch of teddies and I went to this doctor who immediately put me into hospital. The only thing I remember about that was that I had my sister's favourite teddy. And I was scared she might miss him.
In the hospital they kept sticking needles into me, testing me for all different things until one doctor said, 'Well, as it is presenting as Perthais disease, so let's treat it like that.' So that is what we did.
I was put into two plaster casts. In the first one, both of my legs were covered and they were held really far apart by a metal pole which we had to make bigger all the time to make my legs even further apart. To get around, I was in a wheelchair. That lasted for about three weeks.
After that I had a femoral osteotomy, where the doctors broke the bone in my left hip and set it back together with a metal plate and four screws. The plate had to stay in for two years. That plaster cast started above my waist - so I could not sit up - and went right down to my toes on my left leg but only until my knee on my right leg. I had a skate board to get around on as I couldn't stand and I was in that plaster cast for about three months, straight through the hot summer. That summer we were in Bournemouth on the beach so I got sand down the cast and I had to blow it out with a hair dryer when it got itchy. ;
When they took off the plaster I had to learn to walk again with crutches and with special swimming lessons. When the metal plate was taken out, I kept it and the DIY fairy (who is just like the tooth fairy but really was my Dad) came to visit me, leaving me a £1 for the metal plate and 50p for each of the four screws, with a letter (in my Dad's handwriting) saying how she was sure I wanted to keep the screws so she was allowing me to - and I still have them.
Then in June 1992, I first had Ceredase in the Royal Free Hospital. I started off on 400 units once every two weeks and every time I got a prize: the first time a troll, and most of the other times, furry stickers.
Just after I started Ceredase, I went with Mummy to the National Institutes of Health in Washington DC, USA, for tests. The doctors had me walk along miles of corridors because they could not believe that I could walk without a limp. A year later I went again, this time with my little brother who also has Gauchers.
After a while, my doctors decided that I should have Ceredase three times a week but they did not think my veins would be able to take it so I was fitted with a portacath - which I hated. I hated it for a few reasons. First of all, it stuck out and was really obvious and noticeable and second of all, three times a week for Ceredase, I had to take my top off which I hated.
Once we had a bit of a scare. We thought that the portacath had got infected. I was in hospital for half the night until one doctor noticed that the inflammation was in the same shape as the Emla patch and I was probably just allergic to that. (Emla is a cream which, if applied an hour or so before, anaesthetises the area of skin to be pierced. The cream is covered by a see-through patch which protects the cream. Before the needle is inserted, the cream is cleaned away but it often leaves a white mark.)
When I went to secondary school I had the portacath taken out because I hated it so much and since then I have had Ceredase through a vein in my hand and recently I have even stopped using Emla cream.
I have put the needle in myself for more than a year. I now have Ceredase once every two weeks on a Sunday whenever there is something good on TV. Sometimes I have a friend watching with me while I have Ceredase. All my friends know about it and it doesn't make a difference to anyone of them.
Do I Look Ill?
Sometimes people call Gauchers an illness but I have never believed that it is an illness or that I am ill. If anyone refers to it as an illness, I ask them 'Do I look ill?' .
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Source: Gauchers News September 1996
© Copyright Gauchers Association 1996