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Susan Lewis retires from her work for Gaucher disease on her 60th birthday. She helped form the Gauchers Association in 1991 and co-founded the European Gaucher Alliance in 1994. She sends this letter to all her friends and colleagues who she has met during this time:
It is with great sadness that I feel I have to retire from my work with Gaucher disease, both in the UK and in Europe. The last 14 years since I met Jeremy Manuel and helped form the Gauchers Association have been exciting, fascinating and hard work. I do not regret a minute of it but feel now is the time to hand over to younger people.
In every edition of Gauchers News, there has been a personal story of someone who has Gaucher disease. Their experience of living with a chronic, genetic disease has been informative, helpful, sometimes sad and in many cases inspirational.
I have always been unwilling to put my own story into print although I have spoken about myself to sufferers, families and doctors on the phone and in person on several occasions. This is because, despite what many may think, I am quite a private person and was brought up not to speak about my own disease. Indeed through my work with the Association, this has become easier although in the early days, my mother remained worried that the family's privacy may be invaded.
A New Challenge However last year brought a new challenge. The UK National Institute of Clinical Excellence (NICE) was asked by the Department of Health to establish whether it could assess expensive drugs for ultra-orphan diseases (with sufferers of less than 1,000 in the country). Gaucher disease was chosen as the case study and I was asked to give my experience to a Citizens Council where 30 people considered whether the NHS should pay a premium price for drugs for rare diseases. Fortunately the majority came to a positive conclusion.
When I offered my services, I did not realise how difficult it would be. Like many people living with a chronic, rare disease, I tend to minimise the pain and difficulties and respond to someone asking how I am by saying: 'Fine, thank you', even if it is not true. I always remember the story of six year old Shevi who was pushed around the zoo with a plaster cast from waist to toe after an operation to stop the pain in her leg. When a little girl pointed at her and asked her mother: What is wrong with her?, Shevi replied: 'There's nothing wrong with me'.
So I sat before 27 citizens plus others who were not friends, or necessarily even sympathetic towards me, and told them my story. I had to look back over nearly 60 years at the very bleakest times of my life and remember parts of my life which I would have preferred to remain hidden.
I remembered the nose bleeds which gushed and took a long time to stem; the bruises which coloured my legs blue and which I covered with dark tights and trousers through much of my life; and my round stomach which I tried to hid with loose clothes which thankfully were fashionable in my late teens and twenties.
I recalled that I had my spleen removed at the age of 24, just one week after I married. It weighed 6 lbs; more than my first son who was born four years later. Seven months after his birth, I suffered severe pains throughout my body. At the time no doctor could say what had caused this; now I would say it was a major bone crisis. I spent five weeks in hospital with strong medication to alleviate the pain. At that time, X-rays showed that my bones in my hips, legs and spine had begun to deteriorate.
Two years later I had my second son. One doctor had told me not to have more children but I ignored his advice and am thankful to this day to have two lovely sons, now aged 31 and 29.
When I was 37 one of my legs became two inches shorter than the other and I was in tremendous pain. I could not walk across the road and the thought of a trip to the supermarket made me burst into tears. Although I was considered young to undergo a total hip replacement, my surgeon said that I did not have any option. That hip has lasted me 22 years and I hope a lot longer. Seven years later, the other hip crumbled and had to be replaced. It has also stayed the course. All this I told the citizens.
Gauchers Association Until I was 45,the only thing I knew about Gaucher disease was from a paragraph in the Encyclopaedia Britannica. There was no information available and certainly no internet.
However while on a holiday in Washington DC in 1991, I visited the offices of the National Gaucher Foundation, the US patient support group, and obtained a wealth of information including the booklet Living with Gaucher Disease which was written by medical experts and published by Genzyme. This information was a revelation and I began to understand the reason for my various symptoms.
A couple of months earlier I met Jeremy Manuel's brother who said that Jeremy was holding a meeting about Gaucher disease. A consultant haematologist and a scientist would be the guest speakers.
It was out of that meeting, where eight sufferers or their families met to hear the experts and exchange experiences, that the Gauchers Association was formed. The rest is history which you have read about in previous editions of this Newsletter. I would now like to take this opportunity to thank the many people with Gaucher disease and their families who have helped me and who have helped me to help others. They have all become my friends.
There are many doctors and scientists in the UK and around the world who have impressed, inspired and helped me. There are too many to individually thank here but I must mention Dr Roscoe Brady who with his team developed enzyme replacement therapy over a period of 30 years and more. Not many realise how long it takes to discover and solve minute parts of the equation, which leads to the development of a drug, or the work of others which have contributed to it.
The doctors working in the four UK government designated Gauchers Centres have developed the highest quality of care available in the National Health Service, indeed, throughout the world. This would not have been possible without the dedication of Prof Timothy Cox and his secretary (this word does not describe her many talents) Joan Grantham. Six executive members of the newly formed Gauchers Association travelled to Addenbrooke's Hospital one foggy day in November 1991 to meet Prof Cox. The Association knew of 11 patients and he said he was anxious to learn from us as we were obviously keen to learn from him. Prof Cox spent two hours explaining and enquiring. It was the start of a partnership which has grown from strength to strength. His team of physicians, including Dr Patrick Deegan, and nurses have needless to say contributed greatly to the service.
Dr Atul Mehta, Dr Derralyn Hughes with Linda Richfield and their team at the Royal Free Hospital are constantly praised by their patients. Dr Ed Wraith at the Royal Manchester Children's Hospital and Dr Ashok Vellodi at Great Ormond Street Hospital with their teams are loved by the children they care for and deeply respected by their parents.
Dr Pram Mistry, who worked in the UK before he travelled to work at Mount Sinai Hospital in New York and now Yale Medical Centre, also showed a caring to his patients which went beyond the call of duty. He spoke about the beauty of science which turned a boring subject into the creative and essential subject that it is.
The meetings organised by the European Working Group on Gaucher Disease have shown the immense amount of scientific work that still goes into researching the disease. Led by Prof Hans Aerts, European doctors and scientists discuss, dissect and discover important aspects of Gaucher disease. Their important work not only helps sufferers of Gaucher disease but other conditions as well. My thanks must also go to Prof Ari Zimran and Dr Debby Elstein in Jerusalem who have been a formidable force for Gaucher disease not only in Israel but around the world and who have become true friends. Their advice and availability have been immensely helpful to the patient associations around the world.
Thanks My work through the UK Gauchers Association and the European Gaucher Alliance would not have been possible without the help and guidance of many colleagues. I have great admiration for the dedication and hard work carried out by the leaders of the European patient groups who work without pay, solely to help those afflicted with the disease.
I have had the privilege of visiting many of these countries and am humbled by the good work that each patient association does despite lack of resources and sometimes battling with government officials, red tape and seemingly endless problems. The plight of some patients, especially in Eastern Europe, has been terrible. Hopefully through the European Cerezyme Access Programme, this will be corrected.
Many patients must thank Henri Termeer, the Chief Executive Officer of Genzyme Corporation, for persevering with enzyme replacement therapy when most experts told him not to bother. Now over 4,000 sufferers worldwide are receiving treatment. However the cost of the drug remains an issue in all countries, including those which have funded it since the drug became available. Therefore a thanks must also go to the many health and other authorities around the world which consider their citizens have a right to treatment.
The Gauchers Association has an executive committee made up of hard working and helpful folk. Don Tendell, our Treasurer, devotes time to the finances of the Association applying his vocation as an accountant. Susie Noe, as a mother of two children with the disease, knows what it is like to have the condition in the family and is willing to speak to others to help, sometimes console, and address the situation in a clear and methodical way. Alan and Sharon Rosen are our relatively new national fund raisers who with others, including Melanie Lipson, have devoted considerable time to raise money with great success.
Anne Begg MP has also been a tremendous support over the years. Jeremy Manuel is the Association's Chairman, co-founder and has worked hard to advance its aims. He jokes that if we don't speak four times a day on the phone, something is wrong. He has been an superb adviser and friend. Tanya Collin-Histed has brought a justified awareness to neuronopathic Gaucher disease. Her daughter has Type 3 and over the past eight years she has worked alongside me and been an encouragement and inspiration. She will take over my role as Executive Director of the Gauchers Association with a commitment which comes with her passion to help all patients with Gaucher disease.
Last but not least I thank my husband David who has stood by me through sickness and health for 35 years, long hours working for the Association and visits to patients and their groups
Gauchers News Contents
Source: Gauchers News May 2005.
Copyright © Gauchers Association 2005.