Abstract
Abstract
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.
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Reference25 articles.
1. National Institutes of Health, Genetic and Rare Diseases Information Center. FAQs about rare diseases [Internet]. [cited 2017 Oct 27]. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases.
2. Limb L, Nutt S, Sen A. Experiences of rare diseases: an insight from patients and families [Internet]. Rare Disease UK; 2010 [cited 2016 Apr 10]. http://www.raredisease.org.uk/documents/RDUK-Family-Report.pdf.
3. Aymé S, Kole A, Groft S. Empowerment of patients: lessons from the rare diseases community. The Lancet. 2008;371(9629):2048–51.
4. EURORDIS. Rare Diseases: understanding this Public Health Priority [Internet]. 2005 [cited 2017 Jul 9]. http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf.
5. Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, et al. Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet J Rare Dis. 2016;11:30.