Individual and family issues surrounding a rare disease

Abstract

Objective: The purpose of this research was to gain an understanding of individual and family experiences of living with a rare disease.
Background: There are over 7,000 types of rare diseases affecting > 25 million individuals in the United States (US) and more worldwide. Individuals with a rare disease are geographically separated and may encounter care providers unfamiliar with their disease. They often face diagnostic delays, inadequate treatment options or a lack of hope for a cure. Economic and societal implications include high costs associated with morbidity and mortality. While there is some research on individual rare disease experiences, a review of experiences common to a wide variety of rare diseases for potential commonalities has not been established.
Methods: A qualitative descriptive design of case study methodology involved data collection through individual and small group interviews and also by email. Analysis identified themes and commonalities found within the rare diseases represented in this study.
Results: Thirty-five adults diagnosed with a rare disease and some family members participated. Data revealed phases of adjustment and themes associated with those experiences. Themes included isolation or feeling all alone, frustrations, searching for a specialist, developing disease expertise, finding outside support, striving for stability and normalacy and maintaining hope.
Conclusions: The participants in this study faced their rare disease obstacless with courage. Appreciation of their varied disease experiences contributes to a fund of limited information on rare disease experiences.