Abstract
BackgroundFinding reliable information on one of more than 7000 rare diseases is a major challenge for those affected. Since rare diseases are defined only by the prevalence criterion, a multitude of heterogeneous diseases are included. Common to all, however, are difficulties regarding information access. Even though various quantitative studies have analyzed the use of different information sources for specific rare diseases, little is known about the use of information sources for different rare diseases, how users rate these information sources based on their experiences, and how the use and importance of these information sources change over time.MethodsFifty-five patients with a variety of rare diseases and 13 close relatives participated in qualitative interviews. For these interviews, a semi-structured guideline was developed, piloted, and revised. Data analysis involved a qualitative content analysis developed by Philipp Mayring.ResultsThe participants considered internet as the most important and widespread information source, especially for early information. Although patients have difficulty dealing with information obtained online, they consider online searching a quick and practical option to gather information. During the course of the disease, personal contact partners, especially self-help associations and specialized doctors, become more important. This is also because information provided online is sometimes insufficiently detailed to answer their information needs, which can be complemented by information from doctors and self-help.ConclusionsPeople rarely use just one type of source, but rather refer to different sources and informants. The source used depends on the type of information sought as well as other person-related factors such as preexisting knowledge and the disease stage. To improve people’s information searching and connect them with medical specialists in rare diseases, a central information portal on rare diseases might be a suitable access point to provide free and quality assured information for patients, caregivers, and physicians. This would allow not only patients but also doctors to find quality assured information on symptoms and therapies as well as patient associations and specialized doctors.
Highlights
Finding reliable information on one of more than 7000 rare diseases is a major challenge for those affected
Even though patients and their relatives understand that doctors, who do not deal with rare diseases on a regular basis, cannot hold information about all rare diseases, they would wish for more transparent dealing with that lack of knowledge
Not all Conclusions In our study, various information sources, such as the internet, self-help organizations, and doctors, have been confirmed as important access channels for people living with a rare disease and their families
Summary
Finding reliable information on one of more than 7000 rare diseases is a major challenge for those affected. Since rare diseases are defined only by the prevalence criterion, a multitude of heterogeneous diseases are included. Rare diseases have become an important issue. A uniform definition is still pending, rare diseases are globally characterized only by their low prevalence. In Europe, “rare diseases” is the umbrella term for diseases that affect less than or equal to 1 in 2.000 people. Rare diseases can differ greatly in type, symptoms, and causes, affected people usually face similar challenges. This is because many rare diseases are so rare, that only little information exists. Information is often widely dispersed and difficult to find in the vastness of the internet or literature, so that access is limited [1]
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