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The first meeting of the Gauchers Association took place on 4 August 1991 but it was a talk organised by the Helen Manuel Foundation a couple of months earlier that changed the lives of many people with Gaucher disease. Susan Lewis looks back on the last decade with gladness, gratitude, some sadness and hope for an even better future.
In June 1991 a group of people who had some connection with Gaucher disease met in a small community hall in North London. They were there to listen to two speakers, Prof Victor Hoffbrand, a Consultant Haematologist at the Royal Free Hospital in London and Dr Mia Horowitz, a researcher at the Weitzman Institute in Israel.
These two experts talked about Gaucher disease and described its symptoms. Several people in the audience listened intently and said to themselves: 'They are talking about me (or my child or my husband or wife)'.
Prof Hoffbrand spoke about a new treatment called enzyme replacement therapy which had been developed in the USA and offered new hope to those with the disease. Dr Horowitz described how this inherited genetic disorder was passed down by parents who were healthy carriers. It suddenly began to make sense to the families seated there.
Over a coffee, sufferers (although many did not like being called that) and their families exchanged experiences and some gave a sigh of relief. One mother, who had been told by doctors that her nine year old daughter would not reach the age of 20, met two mothers in their 40's with Gaucher disease who had led a seemingly normal life despite the symptoms they had suffered.
Suddenly the future looked different for many of the families there and it became clear that their collective knowledge could be used to benefit others.
Foundation of the Gauchers Association
Three months later in August 1991, nine people met at the home of Jeremy Manuel where they agreed to form a patient support group and make it a charity. But they realised how little they knew about the disease and appreciated the difficulties of giving out accurate but easy to understand information to those who needed it.
By coincidence, I was due to visit Washington DC in the USA for a summer holiday and used the opportunity to visit the National Gaucher Foundation, the American patient support group. Karen Cohen, the then Director of the NGF, was incredibly helpful and gave me a copy of a booklet called Living with Gaucher Disease. It had been written by medical experts and set out clearly the causes of Gaucher disease and its symptoms. This booklet became the first essential reading for any family with Gaucher disease.
Gradually we began to reach out to those connected with the disease. Dr Ian Ellis, at that time a geneticist at Guy's Hospital in London, helped us identify other doctors with an interest in the disease including a doctor at Addenbrooke's Hospital in Cambridge which was to prove to be a pivotal introduction. Prof Timothy Cox and his secretary Joan Grantham gave us their time and experience and were as kind and helpful to us then as they remain today. Prof Cox asked us how many sufferers we knew and I described 11 people anonymously. It was the largest group of patients known in the UK at that time.
Through publicity and mail shots to doctors and hospitals, our list of members with the disease increased and the same sentiments were expressed again and again (and if it wasn't in the first person, it related to a child or family member):
'I thought I was the only one with the disease.' 'I was initially told I had leukaemia.' 'I never realised the pains I had were connected with this disease.' 'I was told I would die young.' 'I just thought I bled easily.' 'I hid my large stomach with loose clothes as best I could.'
The relief when one family spoke to another and discovered they were not alone was all too apparent and gradually a nucleus of an extended Gaucher community began to grow.
Families began to realise that there was help to be had. There were doctors who were interested in their disease and researchers who were trying to discover the reasons for the condition and how it progressed.
In addition scientists in America had discovered a treatment. A feeling of cautious optimism began to blossom.
Enzyme Replacement Therapy
When the newly formed Gauchers Association learned about the enzyme replacement therapy Ceredase, it had just received approval for use in the USA but a licence for use in the UK and Europe had not yet been granted.
We were thrilled when Dr Roscoe Brady travelled to the UK from the National Institutes of Health near Washington DC in September 1991 and found time to tell us about his and his colleagues' work on discovering how they obtained the enzyme from tons of placentae and how it had to be purified and then modified so that it would go to the parts of the patient's body which needed it.
The anxiety of potential problems followed almost straightaway. The drug was new and expensive. Would our National Health Service pay for it?
We learned that two children from the UK had been travelling to the USA to receive treatment as part of a trial. Another sufferer had found the money to pay for a few doses himself.
We learned that dosage levels could be lowered if the infusions were given more frequently and Dr Ernest Beutler from the Scripps Research Institute in California described this more fully to members of the Association in August 1992 when he visited London and told us about his 25 years experience seeing over 200 patients with Gaucher disease.
We began to investigate how patients could get the treatment.
The Gauchers Association is proud that it has helped many patients obtain funding for treatment from the Health Service in those early days. We directed families to doctors who knew about the condition and we helped them write letters, if necessary, to their local health authorities and members of Parliament asking that the NHS provide this life saving drug.
There were some struggles along the way but the National Health Service now recognises the full benefit of the treatment and pays for all patients in the UK who need the drug.
Genzyme, the company which had taken on the commercial development of the enzyme replacement therapy, was a young company back in 1991.
One of its employees, Tomye Tierney, whose task was to set up branches in Europe, spoke to members of the Association late in 1991 and introduced us to Martin Cortvriend, their new representative in the UK.
Martin now works for another part of the company but he must be credited for his professional help. We collaborated when it was in our mutual interest but we believe Martin accepted the need for the Association to remain totally independent.
In April 1992 Genzyme organised an international symposium on Gaucher disease in Amsterdam. People with the condition, their family, doctors and scientists came from many parts of the world. They listened to lectures, talked and each learned from the other.
We met new sufferers and their families from different parts of the UK as well as those from Italy, France, Germany, Holland, Sweden and Israel. We resolved to extend the patient support groups in our own countries and support each other as best we could.
We chatted with doctors and scientists whose knowledge astounded us but who listened to us because through us, they had contact with more patients who could help enlarge their own experience further. We realised we were at the cutting edge of scientific discoveries and we felt joy and excitement about our future.
Patients and families were involved in what was a medical meeting and this has paved the way to important collaboration between doctors, scientists and patient groups.
Yet there have been times of great sadness over the last 10 years. We have lost several friends who had the disease: children too ill to benefit from treatment or overcome by infection and adults where treatment came too late for them or who went on to suffer other illnesses which took them away from their loved ones.
We regret their loss but they live on in our memories and make the Gauchers Association even more aware of the necessity to continue its work as a conduit for the vital information which can literally make a difference to the lives of people with Gauchers disease.
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Source: Gauchers News September 2001
© Copyright Gauchers Association 2001