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I was fascinated to read Sara's story (Gauchers News, July 1993) because although it mirrored my own experience in some details, I was struck by the contrast in the way we were dealt with by doctors - mine were wholly more sympathetic and her story made me feel very fortunate.
In 1968 when I was 18, my diagnosis was made. I had felt tired and ill for years but our family doctor was dismissive of my symptoms saying it was 'growing pains'. School-life exhausted me.
One day at work a colleague was so alarmed by my mustard-coloured appearance, he insisted on driving me to the doctor after work: I felt no worse than usual. Fortunately my own doctor was on holiday. His locum examined me thoroughly, called his colleague in for a second opinion, talked abut a kidney infection and sent me straight to Redhill General Hospital.
My blood count was very low but although they bombarded me with questions, the doctors gave no inkling of what was wrong nor did I receive any medication. I do remember being appalled when a team arrived at my bedside with a drill and a hair-drier. They drilled into my breast-bone, blowing it all the while with the drier, and drew off samples of bone marrow.
After three weeks of excellent care confined to bed, it was gently explained that I was being transferred by ambulance to St Bartholomews Hospital in London. On my second day a group of medics gathered round my bed and an elderly doctor gazed deep into my eyes, prodded my tummy and moved away smiling and nodding. I remember thinking 'What are they all smiling about, I feel terrible!'. Minutes later the houseman returned to my bed and announced 'Sir Ronald Bodley-Scott thinks he knows what is wrong with you - it's called Gauchers disease'. 'What?'
I spent the next couple of months in the hospital under the care of Professor Malpas. Many tests were taken including two weeks of daily sessions in the Isotope Department. On the first day I was injected with a radio-active solution into my blood. Then I lay on a table whilst a cylindrical scanner was positioned in turn over my heart, spleen and liver areas and a purple pen-mark made on my skin to ensure that on subsequent days the same spots were monitored. Each day the scanner was placed over each area in turn and the operator watched the complicated technology that counted the number of red-blood cells that entered and exited each organ. The purpose of this was to establish at which point red cells were being lost. The process was entirely painless, akin to an X-ray, and took about an hour. The hardest part was keeping still for so long.
Medical staff at all levels were kindness itself and with bed-rest, my anaemia improved and I was able even to enjoy all the attention! When they did their own bone marrow test, they were slightly bemused by my wanting to know where the hair-drier was. Was I delirious?
Don't run; walk
On discharge from hospital, I was advised not to run if I could walk or walk if I could ride. Use a lift, not stairs, and generally never over-reach myself. For the next couple of years, Gauchers disease hung like a black cloud in the back of my mind. One doctor, asked for a prognosis, said laughingly that I would grow old 'fat and buckled'. I comforted myself with the thought that such a description fitted most of the elderly anyway.
For the next few years, having moved to Norfolk, I went regularly to Out-Patients in Norwich. At each visit I saw a different doctor and not one knew what Gauchers was and I knew too little myself to be able to explain it. In my blacker moments I believed I was kept in ignorance for some ulterior motive!
All the while my health was generally good and I became able to largely put the condition out of my mind except that as each hospital visit came round, I began to dwell on it again. Eventually as no useful purpose seemed to be served by the hours spent sitting about in the hospital waiting room and no treatment available, I asked to be discharged. This was approved subject to my GP keeping regular checks on my blood.
This has been happening for several years now and apart from occasional periods of anaemia and a general lack of stamina, my health is excellent.
I had also been advised that my fertility would be low but at the age of 21 I became pregnant after just three months of trying and had a healthy 6lb 4oz boy with no complications whatever. He is married now and I look forward to the next generation.
During my low periods I often wondered if Gauchers disease was just a name the doctors had conjured up for my own peace of mind; especially when after my discharge from Barts, my GP announced that everyone had been very worried because they had suspected leukaemia and that they were all relieved it was only Gauchers disease (which explained Sir Ronald Bodley-Scott's smile). When I joyfully related that much to my parents, my father blanched because although my mother had been told, she had kept the worry from him for three months.
Until I heard last year about the Gauchers Association, there have always been moments when I believed the disease was a figment of my imagination because most of the time I feel so very well and now I rejoice to know that among its sufferers, I am truly one of the fortunate.
Susan Lewis writes: Dorothy's story highlights the fears that a rare disease with little information available can generate. Hopefully this will become a thing of the past. Fortunately Dorothy's symptoms have remained relatively mild: we wish her and her family well in the future.
Source: Gauchers News November 1993
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