The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome
| Autor: | Stacy Christensen, Melissa M Coleman, Donna Appell, Linda D. Wagner |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male Gerontology Pediatrics medicine.medical_specialty Chronic condition Disease Young Adult 03 medical and health sciences Rare Diseases 0302 clinical medicine Quality of life medicine Humans 030212 general & internal medicine Young adult 030504 nursing business.industry Health Policy Puerto Rico General Medicine Middle Aged medicine.disease Hermanski-Pudlak Syndrome Quality of Life Albinism Female Hermansky–Pudlak syndrome 0305 other medical science business Rare disease |
| Zdroj: | Chronic Illness. 13:62-72 |
| ISSN: | 1745-9206 1742-3953 |
| DOI: | 10.1177/1742395316655854 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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