Patients With Rare Diseases and the Power of Online Support Groups: Implications for the Medical Community
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Abstract
BACKGROUND: Previous studies have shown positive tangible health benefits from using online support communities for informational support, daily living support, and emotional support. The specifics of how these communities can be improved have not been studied in detail. OBJECTIVE: This study will investigate various sources of information that patients with genetic disorders use to learn more about their condition. We will be using patients with Ehlers-Danlos Syndrome (EDS) as a typical representation of the wider group of patients with genetic disorders. This study will also investigate the benefits and disadvantages of web-based platforms and how they can be improved. METHODS: We used quantitative and qualitative analyses in this study. We undertook a web-based questionnaire survey and semistructured qualitative interviews through Zoom. Questionnaire results were analyzed using descriptive analysis. Thematic coding with constant comparison was used for interview transcript analysis. RESULTS: A total of 436 respondents completed some or all of the survey. The majority of participants are female (386/413, 93.46%), and 24% (99/413) of them are in the age range of 25-34 years. Around 81% (336/413) of the participants have some type of college degree, and 55% (227/413) of them have graduate degrees. About 49.31% (204/413) of them are not currently employed. Most patients stated that their health care providers did not give accurate and complete information to them regarding their health situation (mean 2.87, SD 1.34). Also, patients perceived their providers as not knowledgeable regarding web-based communities that discuss patients' conditions (mean 1.93, SD 1.15). Patients are confident in using health care resources available in web-based health communities (mean 3.78, SD 1.13). We interviewed 30 participants. The demographics of the interviewees were aligned with those of the survey participants. A total of 9 different themes were identified based on the Qualtrics survey and qualitative interviews. Participants shared the pros and cons of different online support groups that they were using and gave suggestions for improvement. They requested a centralized database with different categories of resources classified based on different diseases. They also emphasized the importance of search features and the ability to find relevant information with a hashtag. Furthermore, they elaborated on the privacy and security concerns they have regarding web-based support group platforms. CONCLUSIONS: Patients with rare diseases are finding information not available from their health care providers in community support groups. The medical community and web developers have a great opportunity to help these people by engaging with their web-based communities.
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Parents and patients access information online similarly, with online support groups as most common mechanism and Facebook as most common platform in both cohorts.
“The ways in which parents and patients access information online are very similar, with online support groups serving as the most common mechanism and Facebook being the most common platform in both cohorts.”
From Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review (2025) · cites this paper as [32]
The Results, ‘Different Sources of Information’ (page not provided), report substantial patient participation in online support groups and list Facebook as the largest named support-group platform. They do not compare parents with patients, and they identify the EDS Society website—not support groups—as the main information source for more than half of participants. Thus the claims about both cohorts and support groups being the most common information mechanism are not supported. (LLM, conf=0.86)
Experimental — accuracy not yet measuredThree excluded studies focused on use of social media support groups by patients with rare diseases.
“Similarly, 3 excluded studies [31-33] focused on the use of social media support groups by patients with rare diseases.”
From Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review (2025) · cites this paper as [32]
Patients search for other people with similar conditions to connect with and want to feel part of a community.
“Patients search for other people with similar conditions to connect with and want to feel part of a community [31-35].”
From Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review (2025) · cites this paper as [32]
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References 23 · Cited by 33
Research works printed but not linked: 19
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- Authors
- Ashtari, S., & Taylor, A.
- Affiliations
- California State University, Sacramento (US)
- Corresponding author
- Ashtari, Sadaf
- Venue
- JMIR Formative Research
- Publisher
- JMIR Publications Inc.
- Published
- 2023-09-14
- Volume
- 7
- Pages
- e41610
- ISSN
- 2561-326X (ISSN-L)
- PMC
- PMC10540027
- OpenAlex
- W4366539067
- Cited by
- 33
- References
- 23
- Citations by year
- 2026: 13 · 2025: 16 · 2024: 4
- FWCI
- 11.69
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- JMIR Formative Research (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Genentech
- Topics
- Health Sciences › Health Professions › General Health Professions › Health Literacy and Information Accessibility
- Social Sciences › Health › Social Media in Health Education
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- rare diseases, online support groups, Ehlers-Danlos syndrome, genetic disorders, patient information seeking, health information sources, patient-provider communication, privacy and security concerns, social media health information, patient education needs
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