The Lived Experience of Having a Rare Medical Disorder: Hermansky-Pudlak Syndrome

Purpose:   Within the discipline of nursing, research is sparse on the experience of living with a rare disease. Given the lack of knowledge related to the experiences and coping mechanisms of those diagnosed with a rare disease, there has been a call to explore the patient experience of rare diseases in order to better care for these individuals (Budych, Helms, & Schultz, 2012; Huyard, 2009; Joachim & Acorn, 2003; Knight & Senior, 2006; Rajmil, Perestelo-Perez, & Herdman, 2010). Hermansky-Pudlak Syndrome (HPS) is a rare form of albinism, affecting approximately 1 in 500,000 to 1 in 1,000,000 non-Hispanic individuals. While still rare, the syndrome is more commonly found in the Hispanic population, where 1 in 1,800 individuals in Northwestern Puerto Rico are impacted by HPS (Gahl & Huizing, 2012; Seward & Gahl, 2013). The diagnosis of HPS can be clinically challenging because of the fragmented symptoms that often mimic other more common conditions. Some of these symptoms include albinism, bleeding disorders, vision impairment, and often-pulmonary fibrosis.

Methods:   A qualitative phenomenological study was conducted using semi-structured face-to-face interviews to explore the experience of individuals with this rare genetic disease. After University Human Subject Council approval, the researchers attended the annual National HPS Conference where data collection occurred. Criteria for sample eligibility i ncluded: male or female, (a) age 20-50; (b) with an identified diagnosis of Hermansky-Pudlak Syndrome (HPS); (c) able to self report; (d) and be English speaking. Interviews were tape-recorded, transcribed, and Colaizzi’s (1978) method of data analysis was used to identify four comprehensive categories.  The researchers each reviewed the transcripts separately and then met to conduct data analysis. Member checking with two study participants provided validation of results. Rigor was achieved by addressing auditability, credibility, fittingness, and confirmability.

Results:   A purposive sample of adults between the ages of 20 and 49 diagnosed with HPS were interviewed (N= 23). The majority (83%) were female. Data analysis resulted in the emergence of comprehensive categories related to long road to diagnosis; giving, in order to move forward; survival is to belong to community; and burden of being expert.

The participants spoke extensively about feeling discredited and not being taken seriously during the extended period of time that it took to accurately diagnose their disorder. Once diagnosed, they reflected on how this affected their family and their future as they processed and thought about “moving forward.” Several research studies (Budych, et al., 2012; Huyard, 2009; Putkowski, 2009; Weng et al., 2011) support the participants’ feelings of the “burden of being the expert” as there was often role reversal and constant self-advocacy and self-sacrifice in order to receive medical care. The Internet and social media have greatly changed the way that these participants have remained positive in their outlook. They spoke extensively about the importance of the HPS network as a way to relate to others with similar conditions.

Conclusion:   Nurses care for individuals with a wide variety of illnesses, including those with rare diseases. The need to understand the unique experience of those living with a rare disease is of great importance, as these patients often face compounded challenges in their ability to cope with the diagnosis. Through an understanding of these unique challenges, nurses can enhance the wellbeing of these patients by the provision of more holistic care. These research findings have implications for policy, nursing practice and nursing education.

The objective of this qualitative study was to begin to understand the lived experience of adults with a rare genetic disorder, Hermansky-Pudlak Syndrome. The data analysis begins to shed light on the complex challenges that these individuals face, along with the ways that they have found to remain positive and resilient in their quest to improve their care and quality of life. All of the participants were gracious in their appreciation for the time and effort expended to listen to their stories.