Beyond the clinical context: the process of losing oneself living with Huntington's disease

• Published in: Orphanet journal of rare diseases Vol. 17; no. 1; p. 184
• Main Authors: Varela, Luz-Estella, Arias, María-Mercedes, Martorell-Poveda, María-Antonia, Giraldo, Clara V, Estrada-Acuña, Rosa A
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 07-05-2022; BioMed Central; BMC
• Subjects: Adaptation, Psychological; Autonomy; Codes; Cognitive ability; Data analysis; Disease; Disease management; Families & family life; Family medical history; Grounded theory; Health aspects; Humans; Huntington Disease - genetics; Huntington's chorea; Huntington's disease; Huntingtons disease; Interviews; Legislation; Loss of autonomy; Loss of sense of self; Medical research; Mutation; Neurodegenerative condition; Patient outcomes; Patients; Physical dependence on another person; Quality of life; Rare diseases; Social aspects; Colombia; Venezuela; Neurodegenerative condition; Loss of autonomy; Loss of sense of self; Grounded theory; Physical dependence on another person
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-022-02330-9

People with Huntington's disease (HD) have increased functional and cognitive dependence. While numerous clinical, genetic, and therapeutic management studies have been carried out, few studies have investigated the disease from the personal experience and the context of people living with HD. To better serve these patients, our purpose is to understand, from the perspective of the patient and their families, how people with HD cope with their daily lives outside the clinical setting.
Thirty-three affected or at-risk people participated in this study. Participants were interviewed at their homes on distinct occasions during a family visit. We analyzed the data using Grounded Theory, which allowed us to understand how people live with the disease on their own terms.
Living with HD is a process that begins with acceptance or denial that one is at risk for the disease or, growing awareness of the condition due to motor, behavioral, and cognitive changes, and, finally, loss of autonomy with physical dependence on another person, and loss of sense of self and family.
While the daily life of patients before disease onset was characterized by physical and mental/cognitive independence, with HD they become increasingly trapped in their bodies, and their complications are due to the lack of effective curable therapy.