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. More.
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. More.
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. More.
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. More.
Many physicians and scientists have played an active role in supporting and encouraging the work of patient groups. More.
Although many of the issues described 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. More.
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. More.
Raising money to support the work of patient groups and, if possible, help research is essential. More.
The UK Gauchers Association are delighted to announce that the fund has now been expanded to provide support in other areas of education. Find out more here