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These were Nicola's words two years ago when she was 14 years old. Today after a hip replacement, she is out of her wheelchair and receiving Ceredase. Her mother, Margaret, tells their story:
When my 16 year old daughter Nicola was diagnosed at the age of eight, I did not know anything about Gauchers disease at all.
Nicola had had a hernia operation after which she bled terribly. She was transferred to Newcastle's Royal Victoria Infirmary where a whole load of tests were done and a lot of students were very interested in her. It was then I started to worry. I used to feel really sorry for Nicola going through all the tests but I knew it was for her own good. Eventually Gauchers disease was diagnosed.
Afterwards Nicola kept going to the Clinic for checks on her blood. We as a family watched her all the time to see if anything appeared - to make sense of this disease. Nothing did apart from Nicola always being white; everyone used to comment on her paleness, especially with her blond hair she used to look ghastly sometimes. Apart from that and an enlarged spleen and liver which you couldn't see, there were nothing at all.
Hurt her leg
Everything seemed well or so we thought. Nicola started secondary school and settled really well. But six months later when she was 11 years old, she fell during a youth play scheme trip and hurt her leg. We took her to hospital and she was kept in. She was in great pain and could not straighten her leg. This kept going on for weeks. We would get her home for a couple of days, then she would have to go back into hospital again. Eventually Nicola's doctor decided she needed a wheelchair and that she had to go to a physically handicapped school.
That's when my life turn around. Through Nicola's school, a social worker, Marie, helped me talk through my worries and problems. She was great. One morning by chance Marie was watching morning TV and saw a piece on a society she thought might help me. It was called The Research Trust for Metabolic Diseases for Children - RTMDC for short.
Well I wrote a letter telling them everything about Nicola and within a few days I got a phone call from a lady called Lesley Green. She told me some things over the phone and said she was sending me everything she had on Gauchers.
Through the RTMDC I was put in touch with the Gauchers Association. I learnt more from these two groups in such a short time than in a couple of years from others. Without their help and the other parents with children like Nicola, I would never have coped.
I know it was not the fault of my local hospital who cared for Nicola very well and I am really grateful to them but now I take the information I receive to them so if another child comes to them with Gauchers, they have the information.
We were put in touch with Professor Cox at Addenbrooke's and Mr Rushton, an orthopaedic surgeon. They decided that Nicola should have a total hip replacement so February 1993 before she was 15, Mr Rushton performed the operation.
Nicola was back at school after a couple of weeks and by August had no need of her wheelchair or crutches. Now my teenage daughter is walking well and with Ceredase infusions twice weekly, things look really good.
In June last year Nicola joined a Hip Walk for charity at our local hospital. She won a special Best Achievement Award for her courage. My husband Ben, other daughter Stacey and myself are very proud of the way Nicola has coped with everything she has gone through.
We want to thank the RTMDC for putting us in touch with the Gauchers Association and most of all for introducing us to Professor Cox. We could never find the words to say how grateful we are for making Nicola's life so much better. She hopes to start work soon. I never believed the time would come when all this could be possible. It makes me feel so relieved now things are looking really well, for all Gauchers sufferers.
Source: Gauchers News July 1994
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