{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:37:40Z","timestamp":1790761060189,"version":"4.1.0"},"reference-count":25,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2016,7,8]],"date-time":"2016-07-08T00:00:00Z","timestamp":1467936000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Chronic Illness"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:p>Hermansky\u2013Pudlak Syndrome is a rare form of albinism, affecting approximately one in 500,000 to one in 1,000,000 non-Hispanic individuals. The syndrome is more commonly found in Hispanics, where one in 18,00 individuals in Northwestern Puerto Rico are impacted. Because of the rarity of this chronic condition, patients often face challenges in their ability to cope with the diagnosis. A phenomenological study was conducted to explore the experience of individuals with this rare genetic disease. A purposive sample of adults between the ages of 20 and 49 diagnosed with Hermansky\u2013Pudlak Syndrome was interviewed (N\u2009=\u200923). The majority (83%) were female. Data analysis resulted in the emergence of themes related to long road to diagnosis, learning to move forward, burden of being the expert, and survival through belonging to the HPS community.<\/jats:p>","DOI":"10.1177\/1742395316655854","type":"journal-article","created":{"date-parts":[[2016,6,29]],"date-time":"2016-06-29T21:03:58Z","timestamp":1467234238000},"page":"62-72","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":22,"title":["The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome"],"prefix":"10.1177","volume":"13","author":[{"given":"Stacy","family":"Christensen","sequence":"first","affiliation":[{"name":"Department of Nursing, Central Connecticut State University, New Britain, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Wagner","sequence":"additional","affiliation":[{"name":"University of Bridgeport School of Nursing, Bridgeport, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa M","family":"Coleman","sequence":"additional","affiliation":[{"name":"Capital Region Education Council, Hartford, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"Appell","sequence":"additional","affiliation":[{"name":"HPS Network, Oyster Bay, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2016,7,8]]},"reference":[{"key":"bibr1-1742395316655854","unstructured":"National Organization of Rare Disorders. 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Seattle, WA: University of Washington, Seattle, 1993\u20132016, http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1287\/ (accessed 15 March 2015)."},{"key":"bibr3-1742395316655854","first-page":"587","volume-title":"The metabolic and molecular bases of inherited disease","author":"King RA","year":"2001","edition":"8"},{"key":"bibr4-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82204-8"},{"key":"bibr5-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2354.2011.01246.x"},{"key":"bibr6-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1186\/1472-6963-10-77"},{"key":"bibr7-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2702.2007.02244.x"},{"key":"bibr8-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1016\/j.phr.2004.04.002"},{"key":"bibr9-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2648.2000.01466.x"},{"key":"bibr10-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1016\/j.healthpol.2012.02.018"},{"key":"bibr11-1742395316655854","doi-asserted-by":"publisher","DOI":"10.7748\/ns.25.42.16.s25"},{"key":"bibr12-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2648.2003.02663.x"},{"key":"bibr13-1742395316655854","first-page":"82","volume":"185","author":"Knight AW","year":"2006","journal-title":"MJA"},{"key":"bibr14-1742395316655854","doi-asserted-by":"publisher","DOI":"10.3122\/jabfm.17.4.283"},{"key":"bibr15-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1007\/978-90-481-9485-8_15"},{"key":"bibr16-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2702.2010.03583.x"},{"key":"bibr17-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1111\/j.1369-7625.2009.00552.x"},{"key":"bibr18-1742395316655854","first-page":"65","volume-title":"Nursing research: a qualitative perspective","author":"Oiler Boyd C","year":"2001","edition":"3"},{"key":"bibr19-1742395316655854","volume-title":"Qualitative research proposals and reports: a guide","author":"Munhall P","year":"2008","edition":"3"},{"key":"bibr20-1742395316655854","volume-title":"Nursing research: generating and assessing evidence for nursing practice","author":"Polit D","year":"2012","edition":"9"},{"key":"bibr21-1742395316655854","first-page":"48","volume-title":"Existential-phenomenological alternatives for psychology","author":"Colaizzi P","year":"1978"},{"key":"bibr22-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1177\/0898010106295172"},{"key":"bibr23-1742395316655854","volume-title":"Qualitative research in nursing","author":"Speziale H","year":"2007","edition":"4"},{"key":"bibr24-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1016\/0147-1767(85)90062-8"},{"key":"bibr25-1742395316655854","doi-asserted-by":"publisher","DOI":"10.1177\/1942602X09352796"}],"container-title":["Chronic Illness"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1742395316655854","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1742395316655854","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1742395316655854","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:00:09Z","timestamp":1777388409000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1742395316655854"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,8]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1177\/1742395316655854"],"URL":"https:\/\/doi.org\/10.1177\/1742395316655854","relation":{},"ISSN":["1742-3953","1745-9206"],"issn-type":[{"value":"1742-3953","type":"print"},{"value":"1745-9206","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,8]]}}}