IDEAS home Printed from https://ideas.repec.org/a/gam/jijerp/v22y2025i1p117-d1568607.html
   My bibliography  Save this article

“Lack” and “Finally”: A Qualitative Analysis of Barriers and Facilitators in Rare Disease Healthcare

Author

Listed:
  • Amanda R. Hemmesch

    (Department of Psychology, St. Cloud State University, St. Cloud, MN 56301, USA)

  • Kathleen R. Bogart

    (Department of Psychological Science, Oregon State University, Corvallis, OR 97331, USA)

  • Erica Barnes

    (Minnesota Rare Disease Advisory Council, St. Paul, MN 55104, USA)

Abstract

Background: This study explored the experiences of adults with diverse rare diseases (RDs) and RD caregivers with barriers and facilitators to healthcare access in the United States (US), including during the early part of the COVID-19 pandemic, and their recommendations for improving access. Results: Adults with RDs and parents/caregivers to children with RDs (N = 1128) completed open-ended survey items. Responses were analyzed using thematic analysis. The primary theme identified regarding barriers to healthcare was “lack”; participants reported challenges in obtaining an accurate diagnosis, effective management/treatment, health insurance coverage, and social support. The primary theme identified regarding facilitators was “finally”; participants reported a need for persistence to access a diagnosis, RD experts, as well as social support and advocacy. Recommendations for improving healthcare for RDs mirrored the barriers and facilitators identified, including improving knowledge/awareness of RDs and investing in RD research that could improve diagnosis and treatment. Participants’ healthcare experiences varied widely during the COVID-19 pandemic, with some reporting that telehealth improved care and others reporting disruption due to telehealth. Conclusions: Even though individual diagnoses are rare, there are shared challenges to healthcare access and common opportunities for improvement. Policy recommendations regarding RD healthcare focus on improving affordable and timely access to knowledgeable providers, diagnosis, and medications/treatments.

Suggested Citation

  • Amanda R. Hemmesch & Kathleen R. Bogart & Erica Barnes, 2025. "“Lack” and “Finally”: A Qualitative Analysis of Barriers and Facilitators in Rare Disease Healthcare," IJERPH, MDPI, vol. 22(1), pages 1-22, January.
    • Handle: RePEc:gam:jijerp:v:22:y:2025:i:1:p:117-:d:1568607
    as

    Download full text from publisher

    File URL: https://www.mdpi.com/1660-4601/22/1/117/pdf
    Download Restriction: no
    File URL: https://www.mdpi.com/1660-4601/22/1/117/
    Download Restriction: no
    ---><---

    References listed on IDEAS

    as
    1. Johannes Boettcher & Michael Boettcher & Silke Wiegand-Grefe & Holger Zapf, 2021. "Being the Pillar for Children with Rare Diseases—A Systematic Review on Parental Quality of Life," IJERPH, MDPI, vol. 18(9), pages 1-13, May.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Cristina Gimenez-Lozano & Lucía Páramo-Rodríguez & Clara Cavero-Carbonell & Francisca Corpas-Burgos & Aurora López-Maside & Sandra Guardiola-Vilarroig & Oscar Zurriaga, 2022. "Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain," IJERPH, MDPI, vol. 19(16), pages 1-16, August.
    2. Juan R. Coca & Susana Gómez-Redondo & Alberto Soto-Sánchez & Raquel Lozano-Blasco & Borja Romero-Gonzalez, 2023. "Perception of Social and Educational Quality of Life of Minors Diagnosed with Rare Diseases: A Systematic Review and Meta-Analysis," IJERPH, MDPI, vol. 20(2), pages 1-17, January.
    3. Takeya Adachi & Ayman W. El-Hattab & Ritu Jain & Katya A. Nogales Crespo & Camila I. Quirland Lazo & Maurizio Scarpa & Marshall Summar & Duangrurdee Wattanasirichaigoon, 2023. "Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges," IJERPH, MDPI, vol. 20(6), pages 1-37, March.
    4. Jadranka Pavić & Mateja Krznar & Snježana Čukljek & Biserka Sedić & Štefanija Ozimec Vulinec & Irena Kovačević, 2024. "The Association between Healthcare Satisfaction and Social Support and Stress, Depression, and Life Satisfaction in Female Caregivers: The Moderating Role of Dependence of a Sick Child," IJERPH, MDPI, vol. 21(9), pages 1-17, September.

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:gam:jijerp:v:22:y:2025:i:1:p:117-:d:1568607. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: MDPI Indexing Manager (email available below). General contact details of provider: https://www.mdpi.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.