The Experience of Receiving and Transmitting a Genetic Disease

Abstract

Legacies are key components of the aging experience. Three types of legacies have been described: biological, material, and values. This paper focuses on biological legacy, centering on the experience of receiving and transmitting the genes associated with transthyretin-related amyloid familial polyneuropathy (TTR-FAP). This study adopts the self-confrontation method (SCM) to explore narratives about biological legacies on individuals affected by TTR-FAP. The study included four participants, who are both in the receiver (affected by the condition, meaning they have inherited the disease-causing mutation) and in the transmitter (potentially passing on the mutation to their children) positions. The participants are two men and two women, aged 45–65 years old; all have children. Data analysis was performed by following the SCM, identifying life themes and determining affective meanings. The main findings suggested include: (1) in the receiver position, participants focus on treatment and adaptation regarding the disease attached to both negative and positive affective meanings; (2) in the transmitter position, they focus on awareness of the disease in children and grandchildren attached to negative affective meanings. Results are relevant for informing genetic counseling services and professionals about these patients’ feelings toward their condition.

Keywords:

• Familial amyloid polyneuropathy
• TTR-FAP
• self-confrontation method
• biological legacy
• genetic disease

Acknowledgments

The authors are thankful to all the participants in this study and to the Associação Portuguesa de Paramiloidose (especially Sandra Costa) for help with recruitment.

Additional information

Funding

This work was supported by the National Funds through FCT - Fundação para a Ciência e a Tecnologia, I.P., within CINTESIS, R&D Unit (reference UIDB/ 4255/2020 and UIDP/4255/2020 Álvaro Mendes acknowledges funding from the FCT (CEECIND/02615/2017) Carla Roma Oliveira is the recipient of a Doctoral Fellowship from the FCT (SFRH/BD/131925/2017).