New Rare Disease UK report highlights experiences of patients and families living with rare conditions

Rare Disease UK (RDUK) is the national alliance for all those with an interest in rare diseases brought together to campaign for a strategy for rare diseases. Over 2010, RDUK carried out a survey of 570 patients and families affected by 119 different rare conditions.

There are over 6000 recognised rare conditions, and although some patients and families reported positive experiences of timely diagnosis and good quality care and support from the NHS, patients and families frequently reported common problems.

The Rare Disease UK report (pdf) includes a case study on Multiple Endocrine Neoplasia (MEN) syndromes, and highlights problems with delays to diagnosis, which were often misdiagnosed multiple times with the patient visiting multiple specialists, difficulties in accessing information and support, problems during transition from paediatric to adult services, a lack of effective treatments, inconsistencies in access to medicines and a lack of information and opportunities to be involved in research.

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