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Susan was diagnosed with Gauchers disease 16 years ago during her third pregnancy although as a child she suffered with a lot of pain in her legs. But it was only in October 1998 that she discovered there was a reason for all her symptoms and that a treatment was available to help her. This is her story:
On a rainy Sunday afternoon in October 1998, I was browsing on the Internet when I came across the Gauchers Association's Web Site.
I was amazed. I was no longer alone. There were lots of people like me and the strange things that had happened to me regarding my health were common to other Gauchers sufferers. Also they were receiving treatment.
As a child I constantly suffered pain in my legs. I was diagnosed as having arthritis in my left knee. After a year of rubbing a horrendous black ointment into my leg every day and wearing a crepe bandage, my consultant noticed, as I walked out of his office, that the trouble came from my hips.
I was diagnosed as having Perthe's disease, a congenital hip problem. I was put on a metal frame in hospital for a year and then there followed another year in callipers.
I recovered but always seemed to bleed and bruise. I vomited every morning and was a thin sickly child. My parents were told the bruising was normal and I had a food allergy which caused me to vomit. Despite this, I had a normal childhood even though I was often in pain.
At the age of 12 years, I suffered unexplained pain in my right leg and hip and during a week's holiday at guide camp, I became very ill. My bones ached tremendously throughout my body. I was admitted into hospital for six weeks but no diagnosis could be given and it seemed like a mystery. I recovered but was left with constant pains in my right leg and hip.
My leg had shortened and I had to wear a weight-bearing calliper on my right leg for a year. By now I was 13 years old and realised I was different from other people. I was left with a limp but was quite well and pain free although I tired easily and always bruised. Putting this aside I carried on with life as a normal teenager.
Gauchers disease had its biggest impact in my life 10 years later. I was seven months pregnant with our second child. Everything was going fine until suddenly I became ill. I was constantly vomiting and I found that I was bruising more, itching and sweating. I became so ill I was admitted to hospital. It had gone unnoticed until then that I had become jaundiced and I had an enlarged liver and spleen. I remained in hospital and had a healthy 9lb baby.
After months of tests, all that could be diagnosed was I had gallstones. I felt dreadful. I became tired quickly and suffered from severe abdominal pain for years. I could not eat fatty or rich foods without becoming ill and could only walk a short distance without experiencing severe pains in my stomach and back. I felt as though I was a very old person - yet I wasnµt even thirty years old.
I had no option but to carry on life as normal with two young children to look after and the need to go to work.
Believing that the gallstones could be responsible for my pain, I nagged my GP and the hospital about my place on the waiting list but it seems that they had lost my records. After about four years I recovered and stopped asking for the operation.
During my third pregnancy I returned to my consultant for a check up. He thought as I had a jaundiced appearance, a low platelet count and an enlarged spleen, it would be advisable to have a liver biopsy. Gauchers disease was at last diagnosed. The diagnosis did not make a real difference to my life.
For the last 16 years, I have had an annual check up at St James's Hospital in Leeds to check on my spleen size and platelet count. I have kept well but feel I have gradually deteriorated. My walking has worsened.
I saw the orthopaedic consultant every two years, waiting for the day when I was 50 and could have my hips replaced. I thought the pains in my knees and ankles were connected to my hips and the pains in my arms were because I use them to pull myself upstairs and to get off seats. I don't believe this is true any more.
My tiredness was almost a joke. I could fall asleep on a stool. I put this down to having a busy life. We have five children and I work part time. After seeing the Gaucher's Association Web Site, everything fits into place better. I thought my symptoms were part of my life and I accepted them. I didn't realise that they were part of my disease.
I presented my consultant with a print of the Web Site pages and he looked into the prospect of my having enzyme replacement therapy. I became very excited and I was eventually referred to Prof Cox at Addenbrooke's Hospital but it has taken nearly a year before I started my first infusion of Cerezyme which I now have twice a week.
I am looking forward to improving my quality of life and perhaps one day having hip replacements. I feel much better about having Gaucher disease now I know I am not such an 'odd ball' after all.
I have been amazed at how helpful all the medical staff have been and will be eternally grateful to the Gaucher's Association for their Web Site and support. I don't think I would have had the confidence to battle for treatment if I had not met so many members of the Gaucher's Association at their Conference in March 1999 who encouraged me to go for it.
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Source: Gaucher's News February 2000. © Copyright Gauchers Association 2000