Everyday Impact of Having a Rare Diagnosis. A Questionnaire Study (Sykepleievitenskap * Omvardnadsforskning * Nursing Science) (Report‪)‬

Introduction A rare diagnosis is described as a chronic condition, often not treatable, where symptoms vary over time (1, 2). Individuals with a rare syndrome in this study encounter varying limitations of mobility, vision or hearing problems, developmental disturbances or physical limitations. For some individuals physical and psychological multiple limitations interact with each other and make everything in daily life more complicated. In some diagnoses, certain features such as facial deformities are visible while in others the consequences such as limited mental capacity cannot be directly observed. Many diagnoses are inherited, and most are rare in numbers (1). Different services from the society throughout life are in many cases needed but not available and relatives therefore carry a heavy burden for personal service.