Date:01 February, 2011

New Rare Disease Report

New Rare Disease UK report “Experiences of Rare Diseases: An insight from patients and families”

The report, “Experiences of Rare Diseases: An insight from patients and families”, deals with the views and experiences of 600 patients and families affected by over 100 different rare conditions on a wide range of topics ranging from research to diagnosis, and access to care, information, support and treatment.

Although some patients and families indicated positive experiences of timely diagnosis and good quality care and support, unfortunately this is not the case for the majority of patients and families with rare diseases.

There are over 6000 recognised rare conditions each with different symptoms and prognoses, yet our publication highlights how patients and families frequently face common problems. Just some of the problems faced by patients and families we found include:

  • Significant delays in diagnosis.
  • Patients being misdiagnosed (often multiple times).
  • Patients “rattling around the system” having to visit multiple specialists before receiving an accurate diagnosis.
  • Difficulties in accessing information and support.
  • Fragmented and poorly coordinated care.
  • Patients and families having to attend multiple hospital appointments often at a long distance from home.
  • Problems during transition from paediatric to adult services.
  • A lack of effective treatments.
  • Inconsistencies in access to medicines.
  • A lack of information and opportunities to be involved in research.

A copy of the report can be downloaded here (3Mb PDF).