Christensen Stacy, Wagner Linda, Coleman Melissa M, Appell Donna
1 Department of Nursing, Central Connecticut State University, New Britain, CT, USA.
2 University of Bridgeport School of Nursing, Bridgeport, CT, USA.
Chronic Illn. 2017 Mar;13(1):62-72. doi: 10.1177/1742395316655854. Epub 2016 Jul 8.
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.
赫尔曼斯基-普德拉克综合征是一种罕见的白化病形式，在每50万至100万非西班牙裔个体中约有1人受影响。该综合征在西班牙裔中更为常见，在波多黎各西北部，每18000人中就有1人受影响。由于这种慢性病较为罕见，患者在应对诊断时往往面临挑战。一项现象学研究旨在探索患有这种罕见遗传病的个体的经历。对20至49岁被诊断为赫尔曼斯基-普德拉克综合征的成年人进行了有目的抽样访谈（N = 23）。大多数（83%）为女性。数据分析得出了与漫长诊断之路、学会向前迈进、成为专家的负担以及通过融入HPS群体而生存相关的主题。
