{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:19:40Z","timestamp":1747149580759,"version":"3.40.5"},"reference-count":62,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T00:00:00Z","timestamp":1635465600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100018853","name":"Prince Charles Hospital Foundation","doi-asserted-by":"publisher","award":["MS 2012\u201039"],"award-info":[{"award-number":["MS 2012\u201039"]}],"id":[{"id":"10.13039\/501100018853","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1158111"],"award-info":[{"award-number":["1158111"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder. Aortic dilatation\/dissection and ectopia lentis are the most severe features, which affect physical functioning and psychological well\u2010being. In Aboriginal Australians, there is little psychosocial research on genetic conditions. This study explored the physical, psychological, and practical impacts of MFS on Aboriginal Australians. Eighteen (8 affected and 10 unaffected) members of a large Aboriginal Australian family with MFS participated in an ethically approved study. Semi\u2010structured qualitative interviews were conducted, transcribed verbatim, and analyzed thematically. All individuals reported challenges from MFS, negatively affecting day\u2010to\u2010day living. Severe vision impairment was perceived as the greatest challenge, contributing to feelings of stigma and exclusion. With aging, concerns shifted toward cardiac complications. The unpredictability of lens dislocation and aortic dissection was reported to be psychologically challenging. Participants described MFS\u2010related barriers to obtaining and retaining employment, especially following cardiac surgery; with consequential psychological and financial hardships. Participants articulated that their cultural drive to support the ill and respectfully mourn the deceased, regardless of distance, resulted in a significant financial burden. Additionally, when hospitalization and\/or funerals occurred, financially solvent individuals were expected to share resources, without any expectation of repayment or reciprocity (i.e., \u2018demand sharing\u2019, common in Aboriginal Australian culture). This study documents the nature and pervasiveness of uncertainty for both affected and unaffected members of an MFS family. Many reported challenges are consistent with other MFS cohorts (including stigma, social exclusion, and unemployment). However, our findings suggest that cultural values may exacerbate the financial costs of MFS for Aboriginal Australians.<\/jats:p>","DOI":"10.1002\/jgc4.1529","type":"journal-article","created":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T09:03:26Z","timestamp":1635498206000},"page":"620-630","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The impact of Marfan syndrome on an Aboriginal Australian family: \u2018I don\u2019t like it as much as I don\u2019t like cancer\u2019"],"prefix":"10.1002","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0059-5732","authenticated-orcid":false,"given":"Aideen M.","family":"McInerney\u2010Leo","sequence":"first","affiliation":[{"name":"The University of Queensland Diamantina Institute The University of Queensland, Dermatology Research Centre  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"West","sequence":"additional","affiliation":[{"name":"Prince Charles Hospital Clinical Unit School of Clinical Medicine The University of Queensland  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bettina","family":"Meiser","sequence":"additional","affiliation":[{"name":"Prince of Wales Clinical School University of New South Wales  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malcolm","family":"West","sequence":"additional","affiliation":[{"name":"Prince Charles Hospital Clinical Unit School of Clinical Medicine The University of Queensland  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maree R.","family":"Toombs","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Rural Clinical School The University of Queensland  Toowoomba Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew A.","family":"Brown","sequence":"additional","affiliation":[{"name":"NHS Foundation Trust and King\u2019s College London NIHR Biomedical Research Centre  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma L.","family":"Duncan","sequence":"additional","affiliation":[{"name":"Department of Twin Research &amp; Genetic Epidemiology School of Life Course Sciences Faculty of Life Sciences and Medicine King\u2019s College London  London UK"},{"name":"Department of Endocrinology NHS Foundation Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,10,29]]},"reference":[{"volume-title":"Indigenous life expectancy and deaths","year":"2019","author":"AIHW","key":"e_1_2_11_2_1"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.17061\/phrp2741732"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005053\u2010198701000\u201000002"},{"volume-title":"2016 Census of population and housing, Australia","year":"2016","author":"Australian Bureau of Statistics","key":"e_1_2_11_5_1"},{"volume-title":"Rural and remote populations","year":"2018","author":"Australian Institute of Health and Welfare","key":"e_1_2_11_6_1"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36574"},{"issue":"1","key":"e_1_2_11_8_1","first-page":"91","article-title":"Labour market and other discrimination facing indigenous Australians","volume":"16","author":"Biddle N.","year":"2013","journal-title":"Australian Journal of Labour Economics"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.5694\/mja2.50558"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0706585"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u2010244X\u201012\u201097"},{"key":"e_1_2_11_12_1","unstructured":"Coffey A. &Atkinson P.(1996).Making sense of qualitative data: Complementary research strategies. 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