{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T17:46:18Z","timestamp":1791740778995,"version":"4.3.4"},"reference-count":46,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T00:00:00Z","timestamp":1791504000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100000156","name":"Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Chronic Illness"],"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>We aimed to (1) understand barriers to quality healthcare and services in the context of rare diseases and (2) identify the multifaceted impacts of these barriers on rare disease patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Semi-structured interviews exploring barriers to optimal rare disease care, the impacts of these barriers, empowerment strategies used, and recommendations. The\n                      <jats:italic toggle=\"yes\">Ten New Rules to Redesign and Improve Care Framework<\/jats:italic>\n                      proposed by the Committee on Quality of Health Care in America of the US Institute of Medicine (2001) guided content analysis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Twelve individuals living with different rare diseases were interviewed. Numerous pertinent barriers were reported. For example, \u2018care based on continuous healing relationships\u2019 (rule 1) is impacted by very long delays in obtaining diagnoses. Patient abandonment and lack of follow-up are also experienced because of the perplexing nature of rare diseases. Regarding \u2018the patient as the source of control\u2019 (rule 3), the rationality of patients is questioned, including claims of malingering and misunderstandings about their unusual experiences. These barriers have multifaceted impacts such as strong negative affect and estrangement from mainstream healthcare.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>There is a clear and pressing need to improve the quality of care for people living with rare diseases, in alignment with major clinical recommendations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/17423953261491392","type":"journal-article","created":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T12:44:16Z","timestamp":1791549856000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Understanding barriers to quality healthcare in rare diseases"],"prefix":"10.1177","author":[{"given":"Ariane","family":"Quintal","sequence":"first","affiliation":[{"name":"Institut de recherches cliniques de Montr\u00e9al"},{"name":"D\u00e9partement de m\u00e9decine sociale et pr\u00e9ventive, \u00c9cole de sant\u00e9 publique de l\u2019Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Canada"},{"name":"Groupe de travail sur l\u2019\u00e9thique et les maladies rares, Institut de recherches cliniques de Montr\u00e9al, Montr\u00e9al, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c9lissa","family":"Hotte","sequence":"additional","affiliation":[{"name":"Institut de recherches cliniques de Montr\u00e9al"},{"name":"Groupe de travail sur l\u2019\u00e9thique et les maladies rares, Institut de recherches cliniques de Montr\u00e9al, Montr\u00e9al, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5387-1238","authenticated-orcid":false,"given":"Annie-Danielle","family":"Grenier","sequence":"additional","affiliation":[{"name":"Groupe de travail sur l\u2019\u00e9thique et les maladies rares, Institut de recherches cliniques de Montr\u00e9al, Montr\u00e9al, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"H\u00e9bert","sequence":"additional","affiliation":[{"name":"Groupe de travail sur l\u2019\u00e9thique et les maladies rares, Institut de recherches cliniques de Montr\u00e9al, Montr\u00e9al, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Carreau","sequence":"additional","affiliation":[{"name":"Groupe de travail sur l\u2019\u00e9thique et les maladies rares, Institut de recherches cliniques de Montr\u00e9al, Montr\u00e9al, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Berthiaume","sequence":"additional","affiliation":[{"name":"Groupe de travail sur l\u2019\u00e9thique et les maladies rares, Institut de recherches cliniques de Montr\u00e9al, Montr\u00e9al, Canada"},{"name":"Universit\u00e9 de Montr\u00e9al"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8306-551X","authenticated-orcid":false,"given":"Eric","family":"Racine","sequence":"additional","affiliation":[{"name":"Institut de recherches cliniques de Montr\u00e9al"},{"name":"Groupe de travail sur l\u2019\u00e9thique et les maladies rares, Institut de recherches cliniques de Montr\u00e9al, Montr\u00e9al, Canada"},{"name":"Universit\u00e9 de Montr\u00e9al"},{"name":"D\u00e9partements de neurologie et neurochirurgie, Unit\u00e9 de recherche en \u00e9thique biom\u00e9dicale et m\u00e9decine exp\u00e9rimentale, Universit\u00e9 McGill, Montr\u00e9al, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,10,9]]},"reference":[{"key":"e_1_3_4_2_2","unstructured":"European Organisation for Rare Diseases (EURORDIS). Rare diseases: understanding this public health priority https:\/\/stars.eurordis.org\/sites\/default\/files\/publications\/princeps_document-EN.pdf (2005 accessed 13 June 2024)."},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0409-z"},{"key":"e_1_3_4_4_2","unstructured":"Europe E-RD. The Voice of 12 000 Patients. 2009 p. 324."},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.3109\/09638280903178407"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00192-016-3109-2"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1080\/09638288.2019.1641848"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/acprof:oso\/9780198237907.001.0001"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/japp.12172"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0020-7489(99)00067-X"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0277-9536(89)90291-8"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-016-9941-1"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1590\/0034-7167-2017-0749"},{"key":"e_1_3_4_14_2","first-page":"61","volume-title":"Crossing the quality chasm: a new health system for the 21st century","author":"Institute of Medicine (US) Committee on Quality of Health Care in America (CQHCA)","year":"2001","unstructured":"Institute of Medicine (US) Committee on Quality of Health Care in America (CQHCA). 3. Formulating new rules to redesign and improve careCrossing the quality chasm: a new health system for the 21st century. National Academies Press (US), 2001, pp. 61\u201388."},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1177\/14777509241305236"},{"key":"e_1_3_4_16_2","first-page":"46","article-title":"Understanding rare disease experiences through the concept of morally problematic situations","volume":"21","author":"Quintal A","year":"2023","unstructured":"Quintal A, Hotte \u00c9, H\u00e9bert C, et al. Understanding rare disease experiences through the concept of morally problematic situations. HEC Forum Interdiscip J Hosp Ethical Legal Issues 2023 ; 21: 46.","journal-title":"HEC Forum Interdiscip J Hosp Ethical Legal Issues"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1080\/23294515.2023.2274587"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.2196\/46607"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.5325\/jspecphil.36.4.0517"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.327.7414.542"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-0009.2012.00665.x"},{"key":"e_1_3_4_22_2","volume-title":"Qualitative research & evaluation methods: integrating theory and practice","author":"Patton MQ.","year":"2015","unstructured":"Patton MQ. Qualitative research & evaluation methods: integrating theory and practice. 4th ed. Sage Publications, Inc., 2015.","edition":"4"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.3109\/09638288.2014.998782"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1111\/jocn.14342"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1080\/09638288.2019.1697763"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12913-018-2872-9"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1479-3709(07)11003-7"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1191\/1478088706qp063oa"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0730-1"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2019-033353"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0022381610000939"},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.1037\/pspa0000350"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1177\/1049732320967908"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1177\/0193945921990730"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2022.02.002"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.1080\/09638288.2019.1636316"},{"key":"e_1_3_4_37_2","unstructured":"Rare Diseases Clinical Research Network. Rare disease clinical research training program https:\/\/www.rarediseasesnetwork.org\/research\/rare-disease-clinical-research-training-program#:\u223c:text=The%20Rare%20Disease%20Clinical%20Research serve%20early%20career%20clinical%20researchers (2016 accessed 13 June 2024)."},{"key":"e_1_3_4_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/d41573-022-00019-z"},{"key":"e_1_3_4_39_2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2014"},{"key":"e_1_3_4_40_2","unstructured":"Minist\u00e8re de la Sant\u00e9 et des Services Sociaux. Politique qu\u00e9b\u00e9coise pour les maladies rares. Gouvernment du Qu\u00e9bec 2022."},{"key":"e_1_3_4_41_2","unstructured":"Minist\u00e8re de la Sant\u00e9 et des Services Sociaux. Plan d\u2019action qu\u00e9b\u00e9cois sur les maladies rares 2023-2027. Gouvernment du Qu\u00e9bec 2022."},{"key":"e_1_3_4_42_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11195-013-9334-4"},{"key":"e_1_3_4_43_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11764-023-01531-w"},{"key":"e_1_3_4_44_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0170365"},{"key":"e_1_3_4_45_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02667-9"},{"key":"e_1_3_4_46_2","doi-asserted-by":"publisher","DOI":"10.1111\/1467-9566.ep11339939"},{"key":"e_1_3_4_47_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.358.6361.414"}],"container-title":["Chronic Illness"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/17423953261491392","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/17423953261491392","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/17423953261491392","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T17:00:29Z","timestamp":1791738029000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/17423953261491392"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,9]]},"references-count":46,"alternative-id":["10.1177\/17423953261491392"],"URL":"https:\/\/doi.org\/10.1177\/17423953261491392","relation":{},"ISSN":["1742-3953","1745-9206"],"issn-type":[{"value":"1742-3953","type":"print"},{"value":"1745-9206","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,9]]},"article-number":"17423953261491392"}}