Abstract
ObjectivesNiemann-Pick disease type C (NPC) is a rare life-limiting disease for which there is no cure. No scales currently exist to measure the impact of medication, physical therapy or clinical trials. The aim of this study was to develop age-appropriate Quality-of-Life (QoL) scales to measure the impact of NPC on children and adults.DesignScale development study using a phenomenological approach to data generation and analysis.MethodsFourteen interviews were conducted with people living with NPC and/or their parents/carers. Themes were generated and examined against an existential-phenomenological theory of wellbeing. A matrix was constructed to represent the phenomenological insight gained on participants’ subjective experiences and a bank of items that were related to their QoL was developed.ResultsNPC quality-of-life questionnaires for children (NPCQLQ-C) and adults (NPCQLQ-A) proxy prototype scales were produced and completed by 23 parents/carers of children (child age mean = 8.61 years) and 20 parents/carers of adults (adult age = 33.4 years). Reliability analysis resulted in a 15-item NPCQLQ-C and a 30-item NPCQLQ-A, which showed excellent internal consistency, Cronbach’s α = 0.925 and 0.947, respectively.ConclusionThe NPCQLQ-C and NPCQLQ-A are the first disease-specific QoL scales to be developed for people living with NPC. This novel approach to scale development values the experiential, real life impact of living with NPC and focused on the lived-experiences and impact on QoL. The scales will enable healthcare professionals and researchers to have a better understanding and quantifiable measurement of the impact of living with NPC on a patient’s daily life.
Highlights
Niemann-Pick disease type C (NPC) is a rare, genetic neurovisceral disease with a clinical incidence of approximately 1:100,000 [1, 2]
A qualitative approach was chosen which aimed to conceptualise ‘quality of life’ from the subjective experiences of people living with NPC, with an exploratory analysis routed in phenomenology
Participants felt that some items were too similar, for example: “They feel content in day to day life” and “On the whole they feel content”; for other items, some felt that they were not relevant, for example: “In general, they feel that their physical state does not allow them to do the things they want to do.”
Summary
Niemann-Pick disease type C (NPC) is a rare, genetic neurovisceral disease with a clinical incidence of approximately 1:100,000 [1, 2]. NPC is classed as a life-limiting condition as there is no cure, and the only approved disease-specific drug available is Miglustat (Zavesca®; Actelion Pharmaceuticals Ltd), which is offered for the treatment of progressive neurological manifestations [2]. Living with any life limiting disease brings difficulties but living with a rare disease generates unique challenges for both the person diagnosed and their carers, and can be an isolating experience [3]. Bury’s [4] concept of biographical disruption suggested that an individual’s sense of self, social interactions, and daily life are disrupted by the illness experience. When related to NPC, a disruption may feel permanent due to there being no cure, never allowing a return to life prior to the diagnosis; necessitating a change in a person’s biography and self-concept [4].
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