Participation in Society for People with a Rare Diagnosis

Background: Many rare diagnoses are syndromes that have complex consequences with a significant impact on the individuals' everyday life. Adults with rare diagnoses are a growing group and knowledge about their needs is often scarce.

Objective: The objective was to investigate the experiences of adults living with different rare diagnoses, how they perceived their difficulties, needs and participation in everyday life, and to identify some common issues and problems.

Method: Individuals with four different diagnoses were interviewed in four focus groups: Artrogryposis Multiplex Congenita AMC (n = 9), Dysmelia (n = 11), 22q11 deletion syndrome (n = 10) and Klinefelter syndrome (n = 8). The interviews focused on the following topics; education, working life, daily routines, sleep, housing, health care and society support system contacts. The study was conducted as qualitative research using content analysis.

Results: The participants described their needs and perceived consequences from not having their everyday needs met. A major theme covers most of the participants' experiences: Complex and varying consequences of the condition have an impact on their participation in education, working and everyday life, mostly due to contextual barrier factors.

Conclusion: The interviewees are affected by different rare conditions. Despite these differences they face similar challenges, due to the low prevalence of their condition and the resulting lack of both knowledge and holistic perspective of service providers. To gather, disseminate and implement information about rare conditions in society is thus a very important task. It is equally important to improve the ways to transfer information and to promote cooperation between service providers.