title: The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome.
abstract: Hermansky-Pudlak 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-Pudlak Syndrome was interviewed (N = 23). 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.
authors.affiliation: 1 Department of Nursing, Central Connecticut State University, New Britain, CT, USA.
authors.forename: Stacy
authors.initials: S
authors.lastname: Christensen
authors.affiliation: 2 University of Bridgeport School of Nursing, Bridgeport, CT, USA.
authors.forename: Linda
authors.initials: L
authors.lastname: Wagner
authors.affiliation: 3 Capital Region Education Council, Hartford, CT, USA.
authors.forename: Melissa M
authors.initials: MM
authors.lastname: Coleman
authors.affiliation: 4 HPS Network, Oyster Bay, NY, USA.
authors.forename: Donna
authors.initials: D
authors.lastname: Appell
mesh_terms: D000328:Adult; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000453:epidemiology / Q000523:psychology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011647:Puerto Rico / Q000453:epidemiology; D011788:Quality of Life / Q000523:psychology*; D035583:Rare Diseases / Q000523:psychology*; D055815:Young Adult
keywords: Hermansky–Pudlak syndrome; Lived experience; albinism; genetics; rare disease