People with Rare Diseases in the Family Practice

DOI: 10.3238/zfa.2018.0104-0109

german translation / full article

Anne Lutz, Ute Schaaf, Marco Roos

Keywords: Prader-Willi-Syndrome family practitioner quality of medical care rare disease

Insights on the Example of Prader-Willi-Syndrome

Background: Rare diseases are more common than generally assumed by the public. The purpose of this study was to investigate how patients suffering from rare diseases and their parents perceive the family care provided by their medical practitioners. As an example for a rare disease, we chose the Prader-Willi-Syndrome (PWS).Methods: Open and standardized interviews were conducted with parents and/or caretakers of the patients. According to the criteria of the qualitative content analysis as suggested by Mayring they were coded and categorized by two independent examiners.Results: According to the interview, long-term care of the patients, extensive knowledge about the patients’ medical history, and easy accessibility to doctors were the main elements that the caretakers regarded as the most important. The existence of a constant communication and coordination with their doctors was essential. Also, the family practitioners’ role in acute situations and the lack of information for both parties, which often leads to patient isolation, were particularly highlighted.Conclusions: From the interviewees’ point of view, family pracititioners as counterparts to outpatient clinics are crucial for the care of these patients. Potential for improvement is to gain knowledge about these diseases extensively. Each family practitioner needs to have an easy access to adequate and consolidate information, for example via webpages like www.orpha.net.

(State: 14.03.2018)

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