Role of older generations in the family's adjustment to Huntington disease

Genetic diseases are a family matter, requiring adjustment and management from the family system, particularly when the diagnosis is recent. Literature has evidenced the importance of the role of older relatives in families dealing with some genetic diseases; however, knowledge is scarce regarding rare incurable genetic disorders, such as Huntington disease. Therefore, this exploratory qualitative study aims at describing how adjustment to Huntington disease occurs, from a family perspective, considering the roles performed by older generations, in the Portuguese context. It adopts the critical incidents technique, administered based on semi-structured interviews, and comprises 10 participants, aged 28 to 72 years (8 females), from seven families. Participants reported 130 critical incidents. The interviews were audiotaped, transcribed, and submitted to thematic analysis. Findings portray participants and their families as beginners in understanding and incorporating Huntington disease in their lives, due to recent diagnosis. In addition, data suggest that older relatives play two relevant roles in the creation of family narratives: (1) shaping awareness about HD (68 critical incidents) and (2) influencing HD management (62 critical incidents). Genetic counseling and family-centered interventions aimed at supporting families with a history of hereditary genetic diseases, should consider a narrative approach involving older relatives, since they have a great influence in sustaining family stories.

Automated summary

This study explores how families adjust to Huntington disease in the Portuguese context, highlighting the important roles played by older relatives in shaping awareness and influencing management of the disease. Participants in the study, aged 28 to 72 years, reported 130 critical incidents, showcasing the initial struggles and learning process families undergo after a recent diagnosis.