Objective: To describe patients’ emotional journey from symptom onset and diagnosis to current state and to identify challenges and unmet needs in Huntington disease (HD).

Background: HD is a rare, congenital neurodegenerative disease that progressively impairs cognitive, emotional, physical, and social functionalities.

Method: Qualitative interviews were conducted with participants living with HD and caregivers of people living with HD (unconnected to each other) in Brazil, Israel, China, and South Korea. Depending on the question, caregivers could answer on behalf of their patients or about their own feelings on caring for a person with HD. Web-assisted telephone interviews were based on a pre-defined discussion guide, and HD diagnosis was based on self‑report. A Blob Tree^© (Pip Wilson and Ian Long, 1980) projective exercise that visually portrayed 21 emotions using “blob people” was used to facilitate discussion.

Results: Interviews were conducted with 25 respondents (12 patients, 13 caregivers); mean age at HD diagnosis ranged from 34 to 48 years. Respondents tended to choose similar “blob people” (ie, emotions) at different points in the patient journey. Before symptom onset, most who self‑reported an HD diagnosis were very aware of their HD risk. Many were diagnosed after symptom onset. During symptom onset, common emotions selected showed patients feeling worried and isolated. After diagnosis, fear, numbness, and anger were indicated. As symptoms worsened, helplessness, loneliness, and a struggle to hold on during the rapid changes in their lives were also felt. Chorea was the most burdensome symptom experienced. There was a high trust in healthcare professionals, who provided needed information; patient organizations also provided support. Loss of control and waiting for death were expressed by patients when describing current emotions.

Conclusion: In this international study of the HD patient journey using qualitative interviews, patients and caregivers alike reported an emotional burden from symptom onset through diagnosis and disease management, along with an impact on quality of life and feelings of loneliness, worry, and hopelessness. Although many with HD had good support systems, there is a need to reduce the stigma through greater disease awareness, more accessible information, and effective long‑term treatments.

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/patient-and-caregiver-experiences-with-huntington-disease-emotions-challenges-and-unmet-needs-in-the-patient-journey/