Over the summer of 2010, Rare Disease UK (RDUK) conducted a survey of patients’ and families’ experiences of living with a rare disease. The aim was to identify and better understand common issues and problems faced by those living with a rare disease.
We received responses from 600 patients and families affected by over 100 different rare conditions. The survey dealt with experiences in a range of areas including research, diagnosis, and access to care, information, support and treatment.
Our report, Experiences of Rare Diseases: An Insight from Patients and Families, published in December 2010, revealed the results.
Some of the common problems experienced included:
- Difficulties in securing a correct diagnosis, with patients often reporting severe delays in diagnosis and multiple misdiagnoses.
- Patients and families struggling to access information on their condition and experiencing a lack of support with both their medical and non-medical needs.
- Patients reporting that their care is badly coordinated, particularly around the time of transition from paediatric to adult services.
- Patients having difficulties in accessing all the services they require for their condition.
The findings of the report have been extremely useful in our work to promote better awareness of rare disease issues among the public, policy makers and health professionals.