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parents were advised not to look up information in a library or medical textbooks, as it was likely to be inaccurate or out of date.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 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