Experiences of Rare Diseases Patients and Families in Wales (2012)

In 2010, Rare Disease UK (RDUK) carried out a survey of patients and families affected by rare diseases in the UK. The aim of the survey was to find out more about their experiences. The findings suggested that some patients’ experiences differed according to the country in which they lived.

In 2012, RDUK decided to conduct country specific surveys in Wales and Scotland. Based on the findings of the 2010 survey, the Welsh version was designed to provide new information in the context of the separate health service of Wales.

Summary of key findings:


  • Patients and families do not feel that enough research is being conducted and want more opportunities to participate.
  • Patients are willing to participate in research, even if it requires travelling.
  • Patients and families feel they are not kept well informed about research being conducted.


  • Patients and families sometimes wait a very long time to receive a correct diagnosis.
  • Patients often receive incorrect diagnoses before arriving at a final and correct diagnosis.
  • Patients must attend multiple appointments before receiving a final diagnosis.
  • The majority of patients were diagnosed in Wales but many are willing to travel for specialised services.
  • Ratings for ‘health service received’ show varying degrees of satisfaction.


  • Information needs are not well met, particularly for undiagnosed patients.
  • Most information comes from specialists, GPs and other health professionals provide little input.
  • Even after diagnosis, many patients and families must search for information themselves.
  • Patient organisations and charities are a useful and more easily accessible source of further information.

Coordination of care

  • The majority of patients have several health professionals involved in their treatment and attend multiple locations to receive care.
  • Travel duration can sometimes be lengthy and may even involve travel outside of Wales.
  • Only a small percentage of patients have a care coordinator yet the majority feel they would benefit from one.

Access to services

  • Access to services, treatments and support remains a major problem area.
  • There is difficulty accessing care from allied health professionals.
  • Patients and families can find the process of applying for help and support problematic, particularly without a diagnosis.
  • There appears to be a disparity between paediatric and adult services, with paediatric services being more efficient.


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