Experiences of Rare Diseases: Patients and Families in Scotland (2012)

Between October and November 2012, Rare Disease UK (RDUK) carried out a survey of patients and families living in Scotland affected by rare diseases. The aim of this survey was to find out more about the experiences of people in Scotland living with a rare condition, and to identify some of the common issues and problems they face.

The results support the need for a rare disease strategy in Scotland. RDUK believes that a strategy would reduce the fragmentation of services and ensure that patients of rare conditions are able to access high quality care, information and support in a timely and equitable manner, whilst at the same time making the use of NHS resources more efficient.

Summary of key findings:


  • Patients and families are supportive of research into rare diseases and have a willingness to take part in¬†research into their rare disease.
  • Patients and families are supportive of rare disease registries, but most do not have a registry for their¬†condition or are unaware if a registry exists.
  • Patients and families do not feel that they are given enough information on research into their rare¬†condition.


  • Patients and families affected by rare diseases are waiting too long for a confirmed diagnosis.
  • A significant number of people with rare diseases receive multiple incorrect diagnoses before they
    receive their confirmed diagnosis.
  • Patients and families are not receiving sufficient information at the time of diagnosis.
  • The experiences of patients and families during the period of diagnosis can vary significantly.


  • Very few patients feel that their information needs have been met completely.
  • Many patients and families have no person that they can easily approach to answer questions about their¬†condition, care and/or treatment.
  • Many patients and families are forced to search on their own for information on their conditions and for¬†information on further sources of support.

Coordination of Care

  • Patients have multiple health professionals involved in their routine care and treatment and often have¬†their treatment/care administered in multiple locations.
  • Few patients have to travel out of¬†Scotland to access their care or treatment. However, patients and¬†families are generally willing to do so if it means seeing a specialist or accessing treatment not available¬†in Scotland.
  • Very few patients have access to a care coordinator; however, most patients and families believe that¬†having a care coordinator would be beneficial.
  • Where Managed Clinical Networks are available and accessed by rare disease patients, a high standard of¬†service is experienced.

Access to Services

  • Patients and families often experience problems when transitioning from paediatric to adult services for¬†their condition.
  • Patients are experiencing problems accessing medicines for rare diseases in Scotland.
  • Many patients and families experience difficulties accessing additional medical and non-medical services.
  • Patients and families experience difficulties obtaining financial support.

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