Shifting focus from ideality to reality: a qualitative study on how quality of life is defined by premanifest and manifest Huntington's disease gene expansion carriers

Orphanet J Rare Dis. 2024 Nov 29;19(1):444. doi: 10.1186/s13023-024-03461-x.

Abstract

Background: Understanding quality of life (QoL) is important in diseases for which there is no cure to date, such as Huntington's disease (HD). A deeper level of understanding is, however, compromised by the lack of studies examining QoL from the perspectives of HD gene expansion carriers (HDGECs). Only a few qualitative studies on QoL in HD have been performed, yet none investigated how QoL is defined by HDGECs themselves.

Objective: This qualitative study explores how premanifest and manifest HDGECs define their QoL.

Methods: Online semi-structured interviews were conducted with 6 premanifest and 6 manifest HDGECs in the Netherlands. Qualitative content analysis was used to explore participants' QoL definitions via inductive coding and the subsequent formulation of (sub)categories and (sub)themes.

Results: Premanifest and manifest HDGECs had a different focus when defining QoL. Two subthemes were identified for premanifest HDGECs: Thoughts about a meaningful life regardless of HD and Concerns about the future progression and impact of HD. For manifest HDGECs, two other subthemes were identified: Coming to terms with HD and Shifting perspectives due to the impact of HD. One overall theme was generated, reflecting the difference and adaptive shift in focus between premanifest and manifest HDGECs: Shifting focus from ideality to reality.

Conclusions: In providing optimal care, HDGECs should be considered as part of a complex, continuously changing environment, thereby taking into account their individual QoL experiences and tailoring care accordingly. HDGECs might benefit from forming helpful beliefs about future adaptability and resilience and developing adaptive coping strategies.

Keywords: Huntington disease; Neurodegenerative diseases; Psychological well-being; Qualitative research; Quality of life.

MeSH terms

  • Adult
  • Female
  • Humans
  • Huntington Disease* / genetics
  • Huntington Disease* / psychology
  • Male
  • Middle Aged
  • Netherlands
  • Qualitative Research*
  • Quality of Life*