The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome
The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome
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DOI：
10.1177/1742395316655854
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发表时间：
2017-03-01
期刊：
影响因子：
1.3
通讯作者：
Appell, Donna
中科院分区：
文献类型：
--
作者：
Christensen, Stacy;Wagner, Linda;Appell, Donna
Hermansky-Pudlak综合征是一种罕见的白化病，影响约50万至1，000，000非西班牙裔个体之一。这种综合征在西班牙裔美国人中更常见，波多黎各西北部每18，00人中就有一人受到影响。由于这种慢性疾病的罕见性，患者在科普诊断的能力方面往往面临挑战。进行了一项现象学研究，以探索患有这种罕见遗传疾病的个体的经历。采访了年龄在20岁至49岁之间的诊断为Hermansky-Pudlak综合征的成年人的有目的样本（N = 23）。大多数（83%）是女性。数据分析的结果是出现了与诊断的漫长道路，学习前进，作为专家的负担，以及通过属于HPS社区而生存相关的主题。
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.