Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases

The Chloe Barnes Advisory Council on Rare Diseases

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Background: Research in a variety of countries indicates that healthcare access and health-related quality of life are challenged among people with a variety of rare diseases (RDs). However, there has been little systematic research on the experiences of children and adults with RDs in the American healthcare system that identifies commonalities across RDs. This research aimed to: (1) Describe demographics, disease characteristics, diagnostic experiences, access to healthcare, knowledge about RDs, support from healthcare professionals, and patient satisfaction among people with RDs and their caregivers; (2) examine predictors of patient satisfaction among adults with RDs; (3) compare health-related quality of life and stigma to US population norms; 4) examine predictors of anxiety and depression among adults and children with RDs. Results: This large-scale survey included (n = 1128) adults with RD or parents or caregivers of children with RDs representing 344 different RDs. About one third of participants waited four or more years for a diagnosis and misdiagnosis was common. A subset of participants reported experiencing insurance-related delays or denials for tests, treatments, specialists, or services. Approximately half of participants felt their medical and social support was sufficient, yet less than a third had sufficient dental and psychological support. Patients were generally neither satisfied or dissatisfied with their healthcare providers. Major predictors of satisfaction were lower stigma, lower anxiety, shorter diagnostic odyssey, greater physical function, and less pain interference. Adults and children with RDs had significantly poorer health-related quality of life and stigma in all domains compared to US norms. Predictors of both anxiety and depression were greater stigma/poor peer relationships, fatigue, sleep disturbance, limited ability to participate in social roles, and unstable disease course. Conclusions: People in the U.S. with RDs have poor health-related quality of life and high stigma. These factors are related to patient satisfaction and healthcare access, including diagnostic delays and misdiagnosis. Advocacy work is needed in order to improve healthcare access and ultimately health-related quality of life for children and adults with RDs.

Original languageEnglish (US)
Article number196
JournalOrphanet Journal of Rare Diseases
Issue number1
StatePublished - Dec 2022

Bibliographical note

Funding Information:
Chloe Barnes Advisory Council on Rare Diseases members: Jakub Tolar, MD, University of Minnesota; Tim Schacker, MD, University of Minnesota; Lisa Schimmenti, MD, University of Minnesota; Nicole Brown, MSN, PHN, Minnesota Department of Health; Kelly Morrison, MD, Minnesota House of Representatives; Tony Albright, Minnesota House of Representatives; Matt Klein, MD, Minnesota State Senate, Mayo Clinic; Julia Coleman, Minnesota State Senate; Karl Nelsen, PA-C MS, Fairview Southdale Hospital and Fairview Ridges Hospital; Rae Blaylark, Sickle Cell Foundation of Minnesota; Karri LaFond, Minnesota; Sheldon Berkowitz, MD, FAAP, Children’s Minnesota; Kris Ann Schultz, MD, Children’s Minnesota; Kerry Hansen, RN, Fairview; Soraya Beiraghi, DDS, MSD, MS, MSD, University of Minnesota; Barbara Joers, Gillette Children’s; David Tilstra, MD, CentraCare; Amy Gaviglio, MS-CGC, Minnesota Department of Health; Lee A. Jones, Rebiotix Inc.; Abigail Miller, MD, PreferredOne®; Jackie Foster, MPH, RN, OCN, Jason Carter Clinical Trials Program, Be the Match. The authors would like to thank Cory Carman and Chinyin Oleson for their assistance confirming the rare disease status of participants.

Publisher Copyright:
© 2022, The Author(s).


  • Anxiety
  • Depression
  • Health-related quality of life
  • Patient satisfaction
  • Rare disease
  • Stigma

PubMed: MeSH publication types

  • Journal Article
  • Research Support, Non-U.S. Gov't


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