About us
The Gauchers Association is:
A Registered UK Charity, Registered Charity Number: 1095657
A Registered Company Limited by Guarantee in England and Wales Number 446823.
The Registered Office: Red Court, Beaconsfield, Farnham Royal, Slough SL2 3BY.
The Gauchers Association is managed by a Board of five Directors and eight Executive Committee members consisting of Gaucher patients, their parents and their relatives. The Directors and Executive members volunteer their time to achieve the Aims of the Group. Click here to find out more about our Directors and Executive Committee Members.
The Group also has a number of distinguished Patrons who lend their support to our work.
The administration office of the Gauchers Association is based at:
3 Bull Pitch
Dursley
Gloucestershire GL11 4NG
Our Executive Director is Tanya Collin-Histed who manages the day-to-day activities of the charity.
The focus of our work is:
• To provide information about Gaucher disease and keep families and medical advisers up to date with latest research developments.
• To encourage the availability of treatment including enzyme replacement therapy
• To keep families in touch for support
• To actively promote medical research into Gaucher disease.
The Gauchers Association were founder members of the European Gaucher Alliance (EGA) which now has a membership of 27 countries. You can learn more about the EGA by clicking here.
In addition to providing support from the Gauchers Association office, we publish information leaflets and two newsletters each year. The Newsletter is circulated to 1,300 families, friends, donors and professionals worldwide.
Funding
The Group relies solely on membership fees, voluntary donations, fundraising events and charitable grants for its income.
View our Governing Documents and Reports
Constitution
Annual Report 2008/09
Directors Report 2008/09
Our History
A Time Before Treatment
Prior to the early 1990s, most people suffering from Gaucher disease and their families knew very little about their condition and were seen by doctors who often could not explain the disorder in any detail – a lack of information common to many rare genetic conditions. Doctors would rarely see other patients with the disease, and even if two or more patients were treated at the same hospital, it was likely that either different doctors or different departments saw them. In addition to this, patients and their parents were advised not to look up information in a library or medical textbooks, as it was likely to be inaccurate or out of date.
Patients and their families felt alone and isolated. They had never met anyone else with the disease so they couldn’t compare symptoms or get any prognosis of what would be the likely outcome of the condition. In addition, some families felt stigmatised by having a rare genetic condition and kept the disease hidden; sometimes even from other members of their family. If symptoms such as nosebleeds or the need for bone surgery did come to the notice of relatives and friends, the reasons for them were kept secret.
However, the development of enzyme replacement therapy in the early 1990s was to change the lives of patients for the better. The Internet, which arrived soon after enabled families to access vital information, previously deemed unobtainable, that could help them.
Three families whose children were diagnosed with having the juvenile neuronopathic form of the disorder, Type 3 Gaucher disease, established the first patients’ support group in 1975 in northern Sweden. They set out to gather information regarding care, treatment, rehabilitation and social security that they could pass to others.
In 1983 two affected sisters, Tineke and Jenny Timmerman, together with Ria Guijt started a Dutch support group with 15 patients and the same number of family, friends, physicians and scientists. Meanwhile in the United States, Dr Robin Berman, on discovering her son Brian had Gaucher disease in 1983, searched for anyone carrying out research in the field. She discovered that Dr Roscoe Brady and his team at the National Institutes of Health, not far from her own home in Maryland, were working on a possible treatment. Although medically qualified, she offered to work for Dr Brady without charge to help in his research. She also worked with Henri Termeer, the Chief Executive of the newly formed Genzyme Corporation to help raise the necessary capital to develop and manufacture the first enzyme replacement therapy called Ceredase which became licensed by the United States Food & Drug Administration in 1991.
The History of the UK Gauchers Association
In May 1991, eight English sufferers (or their parents) met in a north London community hall. The meeting was organised by Jeremy Manuel, who with his family, had founded the Helen Manuel Foundation in memory of their mother who had suffered from Gaucher disease. Of the patients who attended, none knew each other (except for two sisters) although they lived within a radius of a few miles. Professor Victor Hoffbrand, a consultant haematologist at the Royal Free Hospital in London, described the symptoms of Gaucher disease, which several of the patients recognised but had not realised were part of their condition. He spoke about the new enzyme replacement therapy that was due to be licensed in the USA and Professor Mia Horowitz, then from the Weitzmann Institute of Science (and now of Tel Aviv University in Israel) spoke about the genetic basis of the disease and the mutations that had been discovered.
After the meeting the sufferers and parents exchanged stories. One mother, who had been told that her daughter would not live to the age of 20, met a married woman with Gaucher disease who had children and a career. A recently diagnosed man in his 50s met two sisters, both of whom had been diagnosed 30 years earlier in their teens. The sense of relief of those who were able to exchange their life stories was obvious and it was agreed that more information and emotional support was needed. This meeting led to the foundation of the UK Gauchers Association.
Developing Patient Organisations Throughout The World
Similar groups were forming in Europe and around the world and in 1992, the Genzyme Corporation sponsored an international symposium for clinicians, scientists and patients’ support groups in Amsterdam. Representatives of patients’ support groups from many countries were able to establish a network of contacts that still flourishes. Both the German and Italian patients’ support groups were established following the symposium, spurred on by the longer established groups.
In each country, patient support groups for Gaucher disease were started by a few patients and their families seeking information, and many of these founders remain active in their groups to this day. Although a few are from the medical profession, the majority come from diverse backgrounds – lawyers to writers, entrepreneurs to office workers. A doctor whose son has Gaucher disease also started off a patient group with the same lack of knowledge which was all too common. However, all those involved soon became experts in this narrow field of lysosomal storage diseases, acquiring the knowledge and experience from a variety of sources and contacts which turned them into health information and healthcare professionals. They have been able to provide valuable information to families and participate in discussions with doctors, scientists and health authority officials on both a local and national level. This knowledge, and their personal drive led them to negotiate with high level representatives from the pharmaceutical industry to obtain factual information, devoid of marketing bias, which could be verified by clinical experts.
Patients’ Needs
Patients need accurate, easy-to-understand information about their disease, its symptoms and progression. This information needs to be in written form, be easily communicable on the telephone or at meetings and over the Internet. Patients also need specialist doctors who have experience of the disease and are keen to learn more for their patients' benefit. Not least, patients need easy access to available treatment.
The exchange of experiences between patients and their families remains an important aspect of a patient’s support group’s work that can be done either by telephone or by e-mail. Meetings with guest speakers and at annual conferences or workshops, where information is presented by physicians and scientists, also create an environment for families, especially newly diagnosed families or those having had no contact with other families, to help them obtain the emotional and practical support they seek. Patients talk to other patients; parents speak to other parents, be they parents of young children or those facing the readjustment of passing on the responsibility for the condition to adult children. Husbands, wives and carers can also share their thoughts with others in a similar position.
Developing Patient Information
The booklet Living With Gaucher Disease written by doctors Norman Barton, Robin Berman, Ernest Beutler, Roscoe Brady and Gregory Grabowski (published by the Genzyme Corporation in 1991) proved to be the perfect layman’s guide. In everyday English, it explained how the accumulation of Gaucher cells affected the spleen, liver and bone marrow, discussed inheritance patterns, how the disease is diagnosed and went into the emotional and social aspects including the pain, fatigue and disability which many sufferers experienced. The booklet became a bible for many patients who share it with their doctors, teachers and others. It formed part of an information pack sent out by the patient groups in the USA and UK and was supplied to many overseas sufferers. It has been translated into many languages and remains as useful today as it did when it was first published.
The UK Gauchers Association began to publish a six monthly newsletter called Gauchers News in 1992. This has developed into a full-scale magazine and is currently distributed to 1,300 families, doctors, scientists and others in the UK and worldwide. It includes the latest information on every aspect of the disease and its content is verified by a variety of specialists and regularly includes a personal story from a patient’s or a parent’s experience of living with the disorder. Often emotional to read, these stories help others to understand their own condition.
In addition, fact sheets and brochures on specific aspects of life for a patient with Gaucher disease are produced in the UK. Leaflets explaining neuronopathic (Type 3) Gaucher disease and patients’ special educational needs were written by Dr Ashok Vellodi who leads a paediatric Gaucher Centre in London and by Tanya Collin-Histed, a mother of a Type 3 child. A family who had suffered the tragedy of losing their young child wrote a fact sheet on Type 2 Gaucher disease where they explain in detail their story and the help they needed and obtained. A panel of physicians also contributed additional information. On reading this fact sheet, a father who had recently lost his own child to the disease said: ‘you describe my situation exactly. How could you have written about our experience without knowing us?’
Relevant articles from the newsletters and all other information supplied by the UK Gauchers Association, including Living With Gaucher Disease is available on its website at www.gaucher.org.uk. The Internet has enabled members of the general public to obtain instant information via their personal computers and the UK web site has been translated into Spanish and Russian and links are provided to all Gaucher patient groups around the world.
A genetic diseases e-mail discussion list was established in the late 1990s and has enabled patients with Gaucher and other rare diseases to compare notes on many issues.
Publicity
The patients and families who started the support groups realised that the help they obtained by speaking to each other and exchanging information could help others, and research had shown that there was anticipated to be a significant number of sufferers in each country. They resolved to publicise the availability of information and help to those who might feel the same isolation and ignorance of current advances that they had felt.
Gradually the number of people with Gaucher disease contacting the UK patient group increased. Eight people with Gauchers disease attended the inaugural meeting in 1991, and by 2005, the Gauchers Association was in contact with nearly 270 sufferers in the UK. During the same period, the numbers of identified patients increased significantly in Europe, North and South America and other countries around the world.
The Internet has played a crucial role in raising awareness of Gaucher disease throughout the world. The UK office regularly receives enquiries from many countries including Australia, Malaysia, Pakistan, South Africa, numerous South American nations and even the USA. Each enquiry is dealt with and where possible, directed back to the patient group in the enquirer’s own country.
Specialist Centres
Patients need knowledgeable doctors and in the UK, it gradually became apparent that there were only a few who were experienced or showed an active interest in Gaucher disease. Many sufferers who contacted the Gauchers Association did not have a doctor who knew much about the disorder and these patients were advised to ask their local GP to refer them to one of the experienced doctors – thus, centres of excellence gradually evolved.
In 1997, Professor Timothy Cox, who had developed a clinic caring for a large number of patients with Gaucher disease at Addenbrooke’s Hospital in Cambridge, applied for supra regional funding from the UK Department of Health through the National Specialist Commissioning Advisory Group. By this method, central funding was obtained for the assessment and management of patients at Addenbrooke’s Hospital together with two paediatric clinics at Great Ormond Street Hospital in London and the Royal Manchester Children’s Hospital that already treated a number of children with the disease. A year later, a second adult centre at the Royal Free Hospital in London was included. Central funding meant that the centres did not need to seek individual funding for each patient from his or her local health authority for the assessment and management of their disease that greatly facilitated the care of the patients.
Even after the specialist centres were formed, the patient support role continued. Apart from directing families to the centres, occasionally a patient or family did not fully understand what was said to them by their doctor or at a clinic: ‘What exactly did he mean?’ If the patient representative was at all unsure of how to answer, he or she would refer back to the doctor for clarification. Patient groups have developed a panel of trusted doctors who will explain and expand on any issue.
Availability of Treatment
When patients and their families first heard that enzyme replacement therapy could improve many of their symptoms or even stop them getting worse, they were ecstatic, although this excitement was soon tempered when they realised how much the treatment cost. Would their medical insurance companies or national health system be able to afford it?
The debate of treatment using a high dose versus a low dose took on a new dimension and Dr Ari Zimran’s well chosen words: ‘It’s not a matter of high dose versus low dose but low dose or no dose’ resounded in many countries around the world. Not only was there a debate about dosage levels but if a low dose was to be prescribed, it would have to be fractionated (divided) so instead of a patient receiving 60 units per kilogram of body weight every two weeks, it was 15 units per kilogram of body weight every two weeks, divided to be given three times a week, that equates to 2.3 units per kilogram of bodyweight every two days.
In the US and in Europe, the argument took place openly and most significantly during patient meetings. Even if low dose and frequent infusions were medically acceptable, the logistics of travelling to hospital three times a week was personally difficult especially by those patients who worked or studied. To undergo an hour long transfusion, it usually necessitated at least two hours from the time the nurse or doctor arrived in the clinic to when the solution was mixed, the needle or catheter inserted into the patient’s vein and the giving set flushed after the infusion. In addition the patients and perhaps parents occasionally had to travel long distances to reach the hospital, taking time and, most importantly, money.
Dr Ernest Beutler and Dr Ari Zimran advocated home infusions, and in several countries this became an acceptable, safe and preferred method of treatment. In some countries, patients preferred a nurse or doctor to visit the home but in several others, notably Holland and the UK, most patients learned to infuse themselves or parents learned to infuse their children. In some cases, a patient carries out the whole procedure including inserting the needle into a vein, entirely on their own. Many patients have now been carrying out this procedure for over 12 years with only an occasional call for help, usually if the needle was too difficult to site.
Obtaining Treatment
Even low dose treatment is expensive, and during the early 1990s in many countries, it often became part of the patients’ support groups’ role to lobby a health authority to provide treatment to a patient, often working together with the patient’s family. Those responsible for meeting the cost of enzyme replacement therapy often said that the treatment was ‘experimental’ as well as expensive. In the UK, local health authority officials and Members of Parliament were approached to facilitate the introduction of therapy and every case was settled in favour of the patient. During the following years, enzyme replacement therapy and subsequently substrate reduction therapy for those who could not use enzyme replacement therapy for medical reasons have become a recognised expense. However with new expensive treatments for other rare diseases becoming available, the need to justify genuine need for enzyme replacement therapy remains an important issue for families with Gaucher disease.
European Gaucher Alliance
Many physicians and scientists have played an active role in supporting and encouraging the work of patient groups. In 1994, the first meeting of the European Working Group on Gaucher Disease (EWGGD) was held in Trieste in Italy, and representatives of the known European patient groups, including the Israeli Gaucher Association, were invited to join with the doctors and scientists. While the patient representatives understood relatively little of the detailed science discussed, their presence was seen to encourage the professionals and all parties also learnt much during the coffee, lunch and dinner breaks.
Patient representatives continued to attend EWGGD meetings in Maastricht, Holland (1997) and in Lemnos, Greece (1999). During these meetings, the patient representatives took time to discuss their own priorities and concerns and it became apparent that the patient groups needed more time for discussion, and at the fourth EWGGD meeting in Jerusalem, Israel (2000), a separate day was set aside for a special European Gaucher Alliance (EGA) meeting. At subsequent EWGGD meetings in Prague, Czech Republic (2002) and Barcelona, Spain (2004), the EGA held their own separate meetings to discuss issues of common interest.
During the late 1990s patients from former Communist countries in central and eastern Europe began to contact members of the EGA, and in 2001, an EGA delegation from the UK and Italy travelled to Bulgaria to hear about the plight of five children with the disease. Susan Lewis (UK) and Fern Torquati (Italy) attended with Dr Ari Zimran from Israel. They were shocked to see the severity of the children’s disease but were pleased that funding had just been obtained for them. Later in the year, Fern Torquati received an email from the sister of a young Yugoslavian boy needing treatment. She arranged for the child and his mother to travel to Italy and obtained enzyme replacement therapy for him. She then went to Yugoslavia to evaluate the situation there and found many more patients in need of treatment.
In the meantime, the UK invited all EGA delegates to their 10th anniversary conference in London in 2001 and patients’ representatives from Russia, Ukraine, Bulgaria, Romania and Yugoslavia arrived to tell their own stories of patients in desperate need of treatment. The EGA took on the role of negotiating for humanitarian aid with the Genzyme Corporation and in 2004, the company agreed the European Cerezyme Access Programme that provides free treatment for severely affected patients whose health services cannot or will not meet the cost of treatment. Genzyme had previously provided humanitarian aid in Egypt, China and parts of India and Pakistan through Project Hope and the International Cerezyme Access Programme.
Facilitating Interactions
The patients’ support groups’ focus on the need of the individual patient has put them in a unique position to act as an intermediary in many discussions both on a national and international basis, and in individual countries, patients’ support groups have acted as facilitators between doctors and treatment centres providing the support and structure to focus on future activities and projects. The mere taking on of the responsibility of organising a meeting (freeing the clinicians of the time-consuming details) has resulted in successful outcomes. In the UK,the Gauchers Association has commissioned a national research study on bone disease to be a collaboration project between the four national centres.
On an international level, because there are only a relatively small number of clinicians and scientists in the field and due to the initiative to involve patients in scientific and medical meetings, patients’ support group leaders have developed personal relationships with doctors and scientists from around the world and have, through their professional approach, earned their respect and confidence. This has enabled individual patients’ support groups to play an active role in enhancing collaboration between medical centres and individual patient groups in countries where this approach is still novel.
Patients’ support group leaders also appreciate the commercial expectations of the pharmaceutical industry and its drive to develop and market their product. The patients’ support groups have a role to do what they can to ensure that the collaboration between clinicians and scientists with industry focuses on the advancement of treatment most beneficial to patients.
Neuronopathic Gaucher Disease (NGD)
Although many of the issues described above cover all types of Gaucher disease, patients with neuronopathic Gaucher disease (Types 2 and 3 Gaucher disease) have additional challenges associated with the neurological aspects of the disease.
In 2004, the European Commission licensed enzyme replacement therapy for the treatment of Type 3 Gaucher disease although prior to the license, patients were already receiving enzyme therapy off-label due to the dramatic improvement of their visceral disease. Although enzyme replacement therapy has improved the life expectancy and quality of life for many patients, there is no evidence that it crosses the blood brain barrier and the neurological aspects of this disease are being increasingly seen. Therefore, the challenge to develop a treatment that crosses the blood brain barrier still remains.
The neurological aspects of the disease remain challenging for patients and their families and present an unknown future regarding quality of life, life expectancy, ability to function in society and the impact on education.
Many patients with type 3 Gaucher disease receive enzyme replacement therapy in high doses and one infusion can take many hours. Increasingly a small portable device called an Intermate (manufactured by Baxter) is being used that has the advantage that it operates without electricity, and has no moving parts. It has enabled patients to move around freely and go out whilst receiving their treatment.
In 2003, a clinical trial of substrate reduction therapy with Miglustat (Zavesca) in Type 3 Gaucher disease began at two sites, one in the UK and the other in the US, involving thirty patients. It is hoped that this drug will cross the blood brain barrier and slow down neurological progression, however the clinical trial has proven to be a stressful time for many patients and their families. The drug must be taken orally up to three times a day and is delivered in a capsule that must be swallowed. This has been a challenge for many of the young children who have had difficulties in swallowing the capsules. The results of the trial are expected in late 2005.
Formation of a support service for neuronopathic Gaucher disease families in the UK
Gaucher disease is rare and Types 2 and 3 Gaucher disease are even rarer. Most patient groups worldwide know of very few patients with Type 2 and 3 and when patients are newly diagnosed, usually in their first year of life, it can be difficult for families to meet other families to exchange and provide emotional and practical support.
In 1997, the UK Gauchers Association recruited Tanya Collin-Histed, whose daughter was diagnosed with Type 3 Gaucher disease at 16 months old, to join their Executive Committee to focus on raising awareness of the neurological form of the disease and to support families, whereas previously, the group’s attention had mainly focused on Type 1. This enabled the group to offer Type 3, and in some cases Type 2 families someone who understood the issues they faced. Together with Dr Ashok Vellodi from Great Ormond Street Hospital in London, she set out to raise the profile and understanding of neuronopathic Gaucher disease and bring families together to support each other.
Discovering that a child has neuronopathic Gaucher disease is devastating but to learn that there are few other sufferers, that there is little information available or known about the disease, and that there is not an effective treatment for the neurological aspects of the disease is at first incomprehensible. The provision of emotional and practical support in this situation is essential and this has included visiting new families in their homes and in hospital to provide emotional support and practical information. Often just by meeting an older child with the disease helps families to be more positive about the future.
European Consensus
In 1998 at the 3rd European Working Group for Gaucher Disease, the UK patient representative for neuronopathic Gaucher disease made a plea to develop a consensus paper for Europe on the management of Neuronopathic Gaucher disease as treatment varied considerably in different countries in terms of dosage of enzyme replacement therapy and clinical management. The European Working Group took forward the request and a Taskforce led by Dr Vellodi was formed. Clinicians from the UK, Sweden, Italy, Germany and Poland together with the UK neuronopathic patients’ representative met in the UK and developed a European Paper on the ‘Management of Neuronopathic Gaucher Disease’. The Consensus paper was published in ‘The Journal of Inherited Metabolic Diseases’ in 2001and will be reviewed at regular intervals.
Neuronopathic Gaucher Disease Booklets
Little or no information was available for families and non-medical professionals (such as teachers) involved in the day-to-day care of these patients. Consequently, in 2001, two booklets were written by Tanya Collin-Histed and Dr Ashok Vellodi entitled ‘Neuronopathic Gaucher Disease: A Guide for Parents’ and ‘Neuronopathic Gaucher Disease: Special Educational Needs’. Both booklets were produced by Great Ormond Street Hospital Trust and posted onto its website. The booklets were distributed to all known families in the UK and sent to other European patient groups for information and the Italian Gaucher Association translated the booklets into Italian for their own families. The booklets were re-written and updated in 2004 by the authors.
Neuronopathic Family Conferences
Bringing families together has always been a priority and an important aspect of support. In 1997, Dr Vellodi held a Fun Day in London for all the families attending Great Ormond Street Hospital that included activities for the children and talks for the families. This successful event highlighted the value to families of getting together to share their experiences and listen to talks about the disease and for many families, this was the first time they had met other families. In 1998, the UK Gaucher Association held separate sessions for Type 3 families at their annual conference in London and in 1999, the first Type 3 Family Conference was held in Northampton, UK. A dozen UK families attended the conference and a programme for the children was provided so that the parents could listen to presentation on topics such as eye movements, substrate reduction therapy, special educational needs and the auditory pathway.
In 2004, a European Family Conference was held in the UK that was attended by families from the UK, Sweden, Italy, New Zealand, Serbia and Montenegro, Jordan and Germany. Many of the families from outside the UK had never met another family with a child with Type 3 Gaucher disease and the event highlighted the need for patient groups throughout Europe and further away to meet regularly. The European Gaucher Alliance has an important role to play in this.
Families coping with Neuronopathic Gaucher Disease
The stress of the disease on the patient and their families can be enormous and have devastating effects. Marriages can break down and parents may have to give up work or work part-time which affect income levels. The regular trips to hospital for check-ups or reoccurring illnesses means time off work or school that may cause additional problems.
The uncertainty regarding the long term neurological outcome and the lack of a really effective treatment are difficult to deal with. Society’s understanding of the condition is also limited and therefore for patients and their families coping with everyday life can be a real challenge. These areas include education, employment and independence.
All patients have an eye movement problem horizontally and in some cases vertically, and in addition, the majority have some auditory processing problems and other cognitive issues. The patients look normal, are not blind or deaf and therefore present a real challenge to schools and colleges and the majority will need some degree of support to access the school curriculum.
Unfortunately, they do not fit neatly into the ‘boxes’ designed by educational authorities for providing support and there is a lack of understanding of their needs. Parents of other children with Type 3 Gaucher disease who have been through this process can be a tremendous support and the two booklets mentioned above offer practical information on how to get the support your child needs. As more is understood, hopefully the support available to the patients as they grow up and become adults will improve and enable them to access employment and live independently to some degree.
Type 2 Gaucher Disease
For Type 2 families, clinical management is focused on symptomatic care, and detailed advice on management should be given as soon as the diagnosis is made. To enable this, such children should be seen as soon as possible at a specialist centre, although sadly, there is as yet no effective treatment. Their child’s frequent visits to hospital and rapidly deteriorating condition mean that parents have little time to adjust to the situation, let alone liaise with other families. For all these reasons it is difficult to support these families, however some Type 2 families do make contact for emotional support during their child’s illness and following their death. Support should consist of realistic, practical advice on day-to-day management.
Fundraising
Raising money to support the work of patient groups and, if possible, help research is essential. Although the price of the enzyme replacement therapy prohibits fundraising to provide individual patients’ treatment, money needs to be raised to enable patients’ support groups to carry out their activities. Most personnel work on a voluntary basis, expecting no pay, but the provision of information requires bills to be paid for telephones, printing, conferences etc.