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 was made available on the website. The Internet has enabled members of the general public to obtain instant information via their personal computers and the UK web site was translated into Spanish and Russian and links were 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.
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.
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.
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.