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Sandy is the Gauchers Association's Fund Raiser and has been an active and committed executive member since the early days of its formation. She was diagnosed with having Gauchers in early childhood and tells her story:
I was diagnosed at the age of four at St Thomas's Hospital in London after numerous blood tests and a bone marrow sample. My parents were told that it was a very rare disease and there was no cure or treatment available apart from removing my spleen if it became too enlarged. I come from a non-Jewish family of five girls - the disease was found in three of us.
Apart from nosebleeds, tiredness causing me to fall asleep in school and aching legs, it didn't present much of a problem for me until the age of 13 when I suffered what is now known as a bone crisis, but at that stage it was a mystery as nothing showed up on the X-rays. I was given 3 weeks' traction in an orthopaedic hospital. This occurred again at the age of 18 but this time 2 weeks' bed rest was the advice and it worked.
Bone Marrow Test
I was again reviewed by the local haematologist who repeated the bone marrow test in my chest. This is not a pleasant experience and it would now appear that it is not even necessary. I was told although my spleen was enlarged, I should keep it as long as possible as evidence showed that once the spleen was gone, my bones would degenerate more rapidly.
I gave birth to my son at the age of 23 without too many problems. My spleen had enlarged quite a lot during the pregnancy but I was told that there was no reason why I should not have more children. Six weeks before the birth of my daughter, I was taken into hospital for total bed rest as again it seemed that the pregnancy had accelerated the growth of my spleen and it was possible that it may rupture. I was now told no more children as it would be far too dangerous.
From this time on I continuously looked pregnant. I never had a waistline in the past but it was even more pronounced by my very large spleen. In 1986 I had a hysterectomy which I took a long time to recover from and I think this was probably the time when I was at my worst.
Time To Find Out
In 1991 I decided that it was about time I found out about Gauchers disease. A friend saw an article in a national Sunday paper about a young boy who had this rare disease and was flying backwards and forwards to the USA to receive a life saving drug. She recognised the name of the disease and gave me the article.
After having the disease for all these years and meeting many different doctors who have never heard of it, apart from in their reference books, here it was in the papers, another person with Gauchers. This was my opportunity to follow it up and enquire about the treatment and see if I could be of help towards any research into it. I contacted the newspaper editor who gave me the doctor's name in Slough who was treating this boy. I rang the paediatrician and he gave me the address of the National Gaucher Foundation in America who I wrote to immediately. They contacted me and asked if I would be interested in taking part in trials with Ceredase which had been given FDA approval. I declined due to the financial involvement incurred by the six weekly visits to the States.
My haematologist referred me to a genetic counsellor at Guy's Hospital who informed me that a UK Gauchers Association had just been formed. I contacted Susan Lewis for an information pack and she told me of a meeting that was to be held with a talk by Professor Mia Horowitz. I attended the meeting with my Mum and sister. After all this time here were other people that had experienced the same sort of problems as me as a sufferer and Mum as a carer.
I was referred by my GP to Prof Cox and Dr Mistry at Addenbrooke's Hospital, Cambridge, and after assessment I was told that my spleen should be removed first before treatment started, because my spleen was now enormous and my blood was also in a pretty poor state and over the past few years I had had quite a few infections.
I underwent a splenectomy in July 1992 and produced an 8 1/2 lb spleen. I fully recovered and after a battle for funding went onto Ceredase in January 1993. I have had all the recommended vaccinations and for two years took penicillin daily. I haven't looked back since. No infections, more energy, able to eat without feeling I was going to be ill directly I had finished a meal, the peace of mind that my disease could now be controlled and my blood counts have never looked so good.
I have recently starting having infusions of Ceredase twice weekly at home. I did not receive any special training but from experience I have managed to guide my husband and he is now a real whiz with the needle. I have managed to get hold of an old syringe drive which makes life so much easier, we just insert the butterfly needle, connect it to the syringe and I can relax for 30 minutes whilst the Ceredase is being infused.
The association has been a great support and somehow being involved and learning more about the disease I find it easier to cope with. My parents have always felt guilt that three of us inherited the disease and I think by talking to other parents, it helps them to know that the feeling is mutual. All of my family have been a tower of strength for me.
To sum up I have been lucky enough to lead a reasonably normal life. I have never let my disease stop me doing anything and with the support of a caring husband, family and friends I can cope with anything.
Source: Gauchers News September 1995
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