Mental health and rare diseases
Research type
Research Study
Full title
Living with a rare or undiagnosed condition: the emotional impact and effect on mental health.
IRAS ID
228029
Contact name
Amy Hunter
Contact email
Sponsor organisation
Genetic Alliance UK
Duration of Study in the UK
0 years, 6 months, 0 days
Research summary
Rare diseases affect 3.5 million people in the UK, but each individual disease affects very few (1 in 2,000, or less). This means it can take years for symptoms to be recognised and to reach a diagnosis. Because expertise is also rare, patients often have to travel a long way to see specialists, and many need the care of multiple specialists leading to a life full of hospital appointments. The vast majority of rare diseases have no effective cure. It can be difficult to maintain employment and social isolation is often reported. An estimated 6,000 children are born each year with a rare condition that remains undiagnosed despite the best efforts of clinicians. This adds a level of uncertainty for parents/carers about their child’s future development and health.
Living with a rare or undiagnosed disease can have a huge impact on the emotional wellbeing of patients and families. However, many report that they are not getting the emotional support that they need. They sometime also report being ‘mislabelled’ with mental health problems at the expense of having physical symptoms taken seriously.
This study will investigate the emotional and psychological impact for patients and their carers of living with a rare or undiagnosed disease, what support they need and how support might be improved. This perspective will be complemented by an exploration of the views of clinicians treating patients with rare or undiagnosed diseases.
This is an exploratory study which will use interviews to explore patients’ and parents’/carers’ experiences. An online survey based on the interview findings will collect views from a larger number of people. The study will be open to people affected by (or parents/carers of children affected by) any rare disease, including people with syndromes that do not have a diagnosis.REC name
Social Care REC
REC reference
17/IEC08/0028
Date of REC Opinion
26 Jun 2017
REC opinion
Further Information Favourable Opinion