Navigating the unknown: A content analysis of the unique challenges faced by adults with rare diseases
Abstract
Living with a rare disease can present unique challenges not shared by individuals with common diseases. A content analysis explored which challenges, in participants’ own words, are most prevalent across a sample of individuals ( n = 1157) with diverse rare diseases in the United States. Symptoms, activity limitations, treatments, uncertainty, and companionship support were mentioned most. Differences across the most frequently mentioned codes were found among disease types, gender, income, years since diagnosis, and symptom duration. Results suggest a need for improved medical care to reduce activity limitations, increased awareness, social support, and access to information for people with rare diseases.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
AP-ROD share common psychosocial needs and experience a lack of resources adapted to their situation.
“A choice was made to include patients dealing with various ROD in the group, because they share common psychosocial needs [3, 46] and experience a lack of resources adapted to their situation [47].”
From Connect-ROD – development and qualitative evaluation of a community-based group intervention to support well-being in patients with a rare or orphan disease (2024) · cites this paper as [46]
Cites
A Coefficient of Agreement for Nominal Scales
Cohen, J. (1960) · Educational and Psychological Measurement · doi:10.1177/001316446002000104 · Cited by 42,398 · see citing works
Content Analysis in Mass Communication: Assessment and Reporting of Intercoder Reliability
Lombard, M., Snyder-Duch, J., & Bracken, C. C. (2002) · Human Communication Research · doi:10.1111/j.1468-2958.2002.tb00826.x · Cited by 3,068 · see citing works
Glickman, M. E., Rao, S. R., & Schultz, M. R. (2014) · Journal of Clinical Epidemiology · doi:10.1016/j.jclinepi.2014.03.012 · Cited by 1,561 · see citing works
Whatever does not kill us: cumulative lifetime adversity, vulnerability, and resilience
Seery, M. D., Holman, E. A., & Silver, R. C. (2010) · Journal of Personality and Social Psychology · doi:10.1037/a0021344 · Cited by 954 · cited 1× · see citing works
“Individuals with some adverse life events tend to have better health outcomes than those with little or no adverse life events, with higher incomes being associated with less negative life events (Seery et al., 2010).”
BackgroundThe Girl Who Cried Pain: A Bias against Women in the Treatment of Pain
Hoffmann, D. E., & Tarzian, A. J. (2001) · Journal of Law, Medicine & Ethics · doi:10.1111/j.1748-720x.2001.tb00037.x · Cited by 622 · see citing works
Anderson, M., Elliott, E. J., & Zurynski, Y. A. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-22 · Cited by 331 · see citing works
Rutten, L. J. F., Squiers, L., & Hesse, B. W. (2006) · Journal of Health Communication · doi:10.1080/10810730600637574 · Cited by 313 · see citing works
Survey of healthcare experiences of Australian adults living with rare diseases
Molster, C. M., Urwin, D., Pietro, L. D., Fookes, M., Petrie, D., van der Laan, S., & Dawkins, H. J. S. (2016) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-016-0409-z · Cited by 215 · see citing works
Health-related quality of life among adults with diverse rare disorders
Bogart, K. R., & Irvin, V. L. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0730-1 · Cited by 171 · see citing works
Self-citationSocial interaction experiences of adults with Moebius Syndrome: A focus group
Bogart, K. R., Tickle-Degnen, L., & Joffe, M. S. (2012) · Journal of Health Psychology · doi:10.1177/1359105311432491 · Cited by 145 · see citing works
Self-citationZhu, X., Smith, R. A., & Parrott, R. L. (2017) · Journal of Applied Communication Research · doi:10.1080/00909882.2017.1288292 · Cited by 103 · see citing works
Living with HIV/AIDS and Use of Online Support Groups
Mo, P. K. H., & Coulson, N. (2010) · Journal of Health Psychology · doi:10.1177/1359105309348808 · Cited by 72 · see citing works
Views of Discrimination among Individuals Confronting Genetic Disease
Klitzman, R. (2010) · Journal of Genetic Counseling · doi:10.1007/s10897-009-9262-8 · Cited by 63 · see citing works
Participation in society for people with a rare diagnosis
Jaeger, G., Röjvik, A., & Berglund, B. (2014) · Disability and health journal · doi:10.1016/j.dhjo.2014.07.004 · Cited by 55 · see citing works
Benefits of support conferences for parents of and people with Moebius syndrome.
Bogart, K. R., & Hemmesch, A. R. (2015) · Stigma and Health · doi:10.1037/sah0000018 · Cited by 38 · see citing works
Self-citationThe work of living with a rare cancer: multiple myeloma
Stephens, M., McKenzie, H. A., & Jordens, C. F. C. (2014) · Journal of Advanced Nursing · doi:10.1111/jan.12430 · Cited by 34 · see citing works
Hemmesch, A. R. (2014) · Psychology and Aging · doi:10.1037/a0036637 · Cited by 31 · see citing works
Nutt, S., & Limb, L. (2011) · Social Care and Neurodisability · doi:10.1108/20420911111188443 · Cited by 27 · see citing works
Bryan, J. L., LeRoy, A. S., & Lu, Q. (2016) · New Frontiers in Ophthalmology · doi:10.15761/nfo.1000116 · Cited by 4 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Bogart, K. R., Hemmesch, A. R., Barnes, E., Blissenbach, T., Beisang, A., Engel, P., Tolar, J., Schacker, T., Schimmenti, L. A., Brown, N., et al. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02343-4 · Cited by 109 · see citing works
Self-citationSupportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study
Depping, M., Uhlenbusch, N., Kodolitsch, Y. V., Klose, H. F. E., Mautner, V., & Löwe, B. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01660-w · Cited by 78 · see citing works
Rare disease education in Europe and beyond: time to act
Tumiene, B., Peters, H., Melegh, B., Peterlin, B., Utkus, A., Fatkulina, N., Pfliegler, G., Graeßner, H., Hermanns, S., Scarpa, M., et al. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02527-y · Cited by 66 · see citing works
An inductive qualitative content analysis of stigma experienced by people with rare diseases
Munro, M., Cook, A. M., & Bogart, K. R. (2021) · Psychology and Health · doi:10.1080/08870446.2021.1912344 · Cited by 47 · see citing works
Self-citationSocial support, stress, and life satisfaction among adults with rare diseases.
Bryson, B. A., & Bogart, K. R. (2020) · Health Psychology · doi:10.1037/hea0000905 · Cited by 40 · see citing works
Self-citationGimenez-Lozano, C., Páramo-Rodríguez, L., Cavero-Carbonell, C., Corpas-Burgos, F., López-Maside, A., Guardiola-Vilarroig, S., & Zurriaga, Ó. (2022) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph191610366 · Cited by 34 · see citing works
Velvin, G., Hartman, T., & Bathen, T. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02357-y · Cited by 28 · see citing works
Merker, V. L., Plotkin, S. R., Charns, M. P., Meterko, M. M., Jordan, J. T., & Elwy, A. R. (2020) · Patient Education and Counseling · doi:10.1016/j.pec.2020.09.029 · Cited by 26 · see citing works
Segal, O., Goldzweig, G., Tako, E., Barzilai, A., Lyakhovitsky, A., & Baum, S. (2021) · Acta Dermato Venereologica · doi:10.2340/00015555-3785 · Cited by 17 · see citing works
Merker, V. L., Slobogean, B., Jordan, J. T., Langmead, S., Meterko, M. M., Charns, M. P., Elwy, A. R., Blakeley, J. O., & Plotkin, S. R. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62860 · Cited by 17 · see citing works
A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Rosenberger, A. D., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03332-5 · Cited by 18 · see citing works
Bathen, T., Johansen, H., Strømme, H., & Velvin, G. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02169-6 · Cited by 15 · see citing works
“Lack” and “Finally”: A Qualitative Analysis of Barriers and Facilitators in Rare Disease Healthcare
Hemmesch, A. R., Bogart, K. R., & Barnes, E. (2025) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph22010117 · Cited by 9 · see citing works
Self-citationNicod, E., Lloyd, A. J., Morel, T., Meregaglia, M., Upadhyaya, S., Whittal, A., Facey, K. M., & Drummond, M. (2022) · Patient · doi:10.1007/s40271-022-00598-4 · Cited by 13 · see citing works
Plackowski, E. F., & Bogart, K. R. (2022) · Qualitative Health Research · doi:10.1177/10497323221135974 · Cited by 12 · see citing works
Self-citationHealth services interventions to improve the quality of care in rare disease: a scoping review
Chou, C., Wiredu, S. O., Imhof, L. V., Tan, A., Agarwal, S., Lydston, M., & Merker, V. L. (2024) · Therapeutic Advances in Rare Disease · doi:10.1177/26330040241262810 · Cited by 8 · see citing works
Depping, M. K., Uhlenbusch, N., & Löwe, B. (2021) · BMJ Open · doi:10.1136/bmjopen-2020-042856 · Cited by 8 · see citing works
An Ethics Action Plan for Rare Disease Care: Participatory Action Research Approach
Quintal, A., Carreau, I., Grenier, A., Hébert, C., Yergeau, C., Berthiaume, Y., & Racine, É. (2023) · Journal of Participatory Medicine · doi:10.2196/46607 · Cited by 8 · see citing works
Bogart, K. R., Hartinger, A., Klaus, M., & Jenkinson, E. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03033-z · Cited by 6 · see citing works
Self-citationRelationship of rare disorder latent clusters to anxiety and depression symptoms.
Bogart, K. R., & Dermody, S. S. (2019) · Health Psychology · doi:10.1037/hea0000840 · Cited by 6 · see citing works
Self-citationHealth-related quality of life in patients with diverse rare diseases: An online survey
Rao, A., Yabumoto, M., Ward-Lev, E., Miller, E. G., Naik, H., & Halley, M. C. (2024) · Genetics in Medicine Open · doi:10.1016/j.gimo.2024.101889 · Cited by 5 · see citing works
Community Social Networking for Ehlers–Danlos Syndrome
Callen, E. F., Clay, T. L., Cogan, W., Black, W. R., Jones, J. T., & Mabachi, N. M. (2024) · Health Education & Behavior · doi:10.1177/10901981241292275 · Cited by 5 · see citing works
Claessens, Z., Vanneste, A., Isterdael, C. V., Verbeke, C., Wens, I., & Huys, I. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03838-6 · Cited by 8 · see citing works
Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
Modelhart, A., Sturz, D., Kremslehner, L., & Prainsack, B. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03058-4 · Cited by 5 · see citing works
Challenges and Future Opportunities in Rare Genetic Disorders: A Comprehensive Review
Madhu, N. R., Biswas, G., Paul, S., Adhikari, S., Sarkar, B., Rafeeq, M. M., & Umair, M. (2024) · Springer eBooks · doi:10.1007/978-981-99-9323-9_9 · Cited by 7 · see citing works
Yagi, N., Toda, A., Mitani, K., Kotobuki, Y., & Ogawa, W. (2023) · Diabetes Therapy · doi:10.1007/s13300-023-01412-6 · Cited by 5 · see citing works
Defining the complex needs of families with rare diseases—the example of telomere biology disorders
Wilsnack, C., Rising, C. J., Pearce, E. E., Forbes Shepherd, R., Thompson, A. S., Majid, A., Werner-Lin, A., Savage, S. A., & Hutson, S. P. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01697-6 · Cited by 7 · see citing works
Ayoub, S., Clercq, E. D., Cytrynbaum, C. S., Steiner, L. A., & Elger, B. S. (2025) · PLoS ONE · doi:10.1371/journal.pone.0313845 · Cited by 4 · see citing works
Navigating Pathways to Diagnosis in Idiopathic Subglottic Stenosis: A Qualitative Study
Smith, C. D., Nanda, N., Bonnet, K. R., Schlundt, D. G., Anderson, C., Fernandes‐Taylor, S., Gelbard, A. H., & Francis, D. O. (2023) · The Laryngoscope · doi:10.1002/lary.31023 · Cited by 4 · see citing works
What is it like to live with narcolepsy? A scoping review
Hlodak, J., Gecková, A. M., Čarnakovič, S., & Feketeová, E. (2025) · Sleep And Breathing · doi:10.1007/s11325-025-03259-6 · Cited by 4 · see citing works
Uhlenbusch, N., Arpinder, B., Balogh, B., Braun, A., Geerts, A. M., Hirschfield, G. M., Janik, M. K., Lohse, A. W., Milkiewicz, P., Papp, M., et al. (2023) · BMC Psychiatry · doi:10.1186/s12888-023-04669-0 · Cited by 4 · see citing works
Enacted Stigma Experiences and Identity Noticeability of LGBQ+ Women with Rare Diseases
Munro, M., Voight, D. M., Bryson, B. A., & Bogart, K. R. (2022) · Journal of Homosexuality · doi:10.1080/00918369.2022.2059971 · Cited by 3 · see citing works
Self-citationBaffour, S., Löwe, B., Braun, A., & Uhlenbusch, N. (2026) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04192-3 · Cited by 3 · see citing works
Provencher, S., Henry, R. S., Bacalao, C., Carrier, M., Kwakkenbos, L., & Thombs, B. D. (2023) · Journal of Scleroderma and Related Disorders · doi:10.1177/23971983231181726 · Cited by 2 · see citing works
Quintal, A., Hotte, É., & Racine, É. (2025) · Clinical Ethics · doi:10.1177/14777509241305236 · Cited by 2 · see citing works
Bogart, K. R., Limon, M., Fischer, S., & Voss, M. E. (2025) · Journal of Health Psychology · doi:10.1177/13591053251353200 · Cited by 2 · see citing works
Self-citationBardon, C., Rioux, M.-É., Rivard, M., Viquez Porras, F.-M., & Zaky, J. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03252-4 · Cited by 1 · see citing works
“A choice was made to include patients dealing with various ROD in the group, because they share common psychosocial needs [3, 46] and experience a lack of resources adapted to their situation [47].”
BackgroundTaruscio, D., Cicerchia, A., Ferrara, V., Scaletti, C., Seia, C., & Morricone, M. V. (2024) · Integrated science · doi:10.1007/978-3-031-64288-3_5 · Cited by 1 · see citing works
Nadir Hastalıklarda Tedaviye Erişim: Mevcut Durum, Engeller ve Çözüm Önerileri
Yıldırım, M., & Keskin, H. (2025) · Sağlık Bilimlerinde Değer · doi:10.33631/sabd.1507046 · Cited by 1 · see citing works
Golestaneh, L., Ames, E. G., Doyle, M. H., Ghossein, C., Grimm, P. C., Hewlett, J. L., Lim, A., Marzinelli, L. S., Schmidt, K. J., Smeryage, B., et al. (2025) · Kidney International Reports · doi:10.1016/j.ekir.2025.103735 · Cited by 1 · see citing works
Understanding and managing patients with adult rare diseases
Moon, J. (2024) · Journal of genetic medicine · doi:10.5734/jgm.2024.21.1.1 · Cited by 1 · see citing works
The Odyssey of Rare Disease Patients: Navigating the Pathways to DiagnosisPreprint
D'Amico, C. D., Bonnet, K. R., Schlundt, D. G., Fernandes‐Taylor, S., Gelbard, A. H., & Francis, D. O. (2021) · SSRN Electronic Journal · doi:10.2139/ssrn.3922638 · Cited by 1 · see citing works
Lee, T. C. (2006) · Universiti Putra Malaysia Institutional Repository (Universiti Putra Malaysia)
Sleep health of adults and children with Moebius syndrome
Dietch, J. R., Sy, J. R. T., Anderson, E., & Bogart, K. R. (2025) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2025.104924
Self-citationImran, M. (2025) · Journal of Rare Diseases · doi:10.1007/s44162-025-00098-7
Caring for Children with Turner Syndrome: A Supportive Needs AssessmentPreprint
Cannon, A. D., Hinkle, L., Holt, L., Prakash, S. K., & Hurst, A. (2025) · Research Square · doi:10.21203/rs.3.rs-7188786/v1
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962379
Velvin, G., Hartman, T., & Bathen, T. (2022) · Figshare · doi:10.6084/m9.figshare.19947708
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962367
Velvin, G., Hartman, T., & Bathen, T. (2022) · Figshare · doi:10.6084/m9.figshare.19947711
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962391
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962373
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962397
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962388
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962370
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962382
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962376
Sigurðardóttir, S., Johannessen, T. J., Stenberg, U., Systad, S., Duinker, I. L., Bogart, K. R., & Feragen, K. B. (2026) · Research Square · doi:10.21203/rs.3.rs-8975124/v1
Self-citationBlakstvedt, T. Y., Bredahl, A., Kwiet, A. J., Velvin, G., Olsson, H., & Bostrøm, K. (2026) · Journal of Health Psychology · doi:10.1177/13591053261449045
Size Does Matter! Prioritizing Rare Diseases for Luck Egalitarian Reasons
Andersen, D. B., Albertsen, A. B., Wadmann, S., & Bech, M. (2026) · Bioethics · doi:10.1111/bioe.70136
The Disability Observability Spectrum Influences Ableism Pathways
Bogart, K. R., Granjon, M., & Rasset, P. (2026) · Social and Personality Psychology Compass · doi:10.1111/spc3.70173
Self-citation
- Authors
- Bryson, B., Bogart, K., Atwood, M., Fraser, K., Locke, T., Pugh, K., & Zerrouk, M.
- Affiliations
- Oregon State University (US)
- Corresponding author
- Bryson, Brooke
- Venue
- Journal of Health Psychology
- Publisher
- SAGE Publications
- Published
- 2019-02-21
- Volume
- 26
- Issue
- 5
- Pages
- 623-635
- ISSN
- 1359-1053 (ISSN-L)
- 1461-7277
- OpenAlex
- W2915405874
- Cited by
- 63
- References
- 19
- Citations by year
- 2026: 5 · 2025: 11 · 2024: 21 · 2023: 6 · 2022: 11 · 2021: 5 · 2020: 2 · 2019: 1
- FWCI
- 2.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Health Psychology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- college of liberal arts, oregon state university
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Health Professions › Speech and Hearing › Adolescent and Pediatric Healthcare
- Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
- Keywords
- rare diseases, lived experience, activity limitation, symptom burden, treatment burden, uncertainty, social support, companionship, gender differences, income, time since diagnosis, symptom duration, access to information, rare disease awareness
- MeSH terms
- Adult, Humans, Interpersonal Relations, Social Support, United States, Uncertainty, Rare Diseases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
