(2005) organization medical experts [49] Seminara United States UCDs Patient The National Urea Cycle Disorders Foundation The conference has helped to facilitate • • (2010) organizations hosts an annual conference where educational recruitment into UCDC studies [24] presentations are given to patients and professionals by UCDC investigators Cystic United States CF Patient The CFF hosts the annual North American CF Not specified • Fibrosis organizations Conference, where updates on CF care and Foundation research are shared (CFF) (2013) [34] United States VHL Patient the International VHL Medical Symposia, The conference helps to stimulate research and •Hosts • organizations bringing together leaders in VHL basic, make connections among professionals Alliance translational, and clinical researchers, as well as (VHLA) clinicians specializing in VHL diagnosis and (2014) treatment [40] Funding conferences and workshops Groft United States Rare diseases in general Patient Patient organizations fund research-based Not specified • (2013) organizations scientific conferences and meetings for patients, [23] families, and families within the RDCRN Landy Not specified Rare diseases in general Patient Patient organizations organize and support Not specified • (2012) organizations scientific conferences [55] Patient care and support Social support for patients Frost International Rare diseases in general Patients Patients participate in Patients Like Me, an 3,200 members (including families, providers, • • (2008) online community in which data can be entered and researchers) have joined since 2006, with [53] into health profiles (e.g., symptoms, treatments, 1,750 patient users functional rating etc.) and members can Data is aggregated from all health profiles to • communicate via forums and comments on their create community summaries on treatments and profiles symptoms Hughes International Rare diseases in general Patients and Patients and their families participate in The author concludes that rare disease patients • • (2008) families discussion threads on RareConnect.org, an online provide their peers with social support and [158] patient forum information Posts tended to fall within one of the following RareConnect.org provides the opportunity for • • themes: finances, difficulty in getting a diagnosis, general information sharing feeling that doctors are not knowledgeable, and However, due to the prevalence of moderators •
(2005) [49] organization medical experts Seminara (2010) [24] United States UCDs Patient organizations • The National Urea Cycle Disorders Foundation hosts an annual conference where educational presentations are given to patients and professionals by UCDC investigators • The conference has helped to facilitate recruitment into UCDC studies Cystic Fibrosis Foundation (CFF) (2013) [34] United States CF Patient organizations • The CFF hosts the annual North American CF Conference, where updates on CF care and research are shared Not specified Alliance (VHLA) (2014) [40] United States VHL Patient organizations •Hosts the International VHL Medical Symposia, bringing together leaders in VHL basic, translational, and clinical researchers, as well as clinicians specializing in VHL diagnosis and treatment • The conference helps to stimulate research and make connections among professionals Funding conferences and workshops Groft (2013) [23] United States Rare diseases in general Patient organizations • Patient organizations fund research-based scientific conferences and meetings for patients, families, and families within the RDCRN Not specified Landy (2012) [55] Not specified Rare diseases in general Patient organizations • Patient organizations organize and support scientific conferences Not specified Patient care and support Social support for patients Frost (2008) [53] International Rare diseases in general Patients • Patients participate in Patients Like Me, an online community in which data can be entered into health profiles (e.g., symptoms, treatments, functional rating etc.) and members can communicate via forums and comments on their profiles • 3,200 members (including families, providers, and researchers) have joined since 2006, with 1,750 patient users • Data is aggregated from all health profiles to create community summaries on treatments and symptoms Hughes (2008) [158] International Rare diseases in general Patients and families • Patients and their families participate in discussion threads on RareConnect.org, an online patient forum • Posts tended to fall within one of the following themes: finances, difficulty in getting a diagnosis, feeling that doctors are not knowledgeable, and • The author concludes that rare disease patients provide their peers with social support and information • RareConnect.org provides the opportunity for general information sharing • However, due to the prevalence of moderators
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