Living with Rare Genetic Disorders: A Qualitative Study on Daily Challenges, Social Stigmas, and Coping Strategies

Authors: Kholoud H. AlDubayan, Amal M. Hariri, Mohammed B. Mubarki, Mshary A. Aldraihim

DOI: https://doi.org/10.5281/zenodo.13853530

Short DOI: https://doi.org/g53qf5

Country: Saudi Arabia

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Abstract: Background: Individuals living with rare genetic disorders face unique physical, emotional, and social challenges. These conditions often lead to social stigmas and discrimination, further complicating the daily lives of those affected. This study explores the lived experiences of individuals with rare genetic disorders, focusing on the challenges they encounter, the social stigmas they face, and the coping strategies they develop.

Methods: A qualitative, phenomenological study was conducted at a tertiary hospital, using in-depth, semi-structured interviews with 20 individuals diagnosed with rare genetic disorders. Thematic analysis was employed to identify key themes regarding daily challenges, social stigmas, and coping mechanisms.

Results: Four key themes emerged: (1) Daily Challenges, (2) Social Stigmas and Discrimination, (3) Coping Mechanisms, and (4) The Role of Support Networks. Participants reported difficulties accessing medical care, physical limitations, and social isolation. Social stigma was prevalent, particularly in public interactions and workplaces. Coping mechanisms included acceptance, advocacy, and support from family, friends, and peer networks.

Conclusion: Individuals with rare genetic disorders face significant physical and social barriers, compounded by public misunderstanding and stigma. However, strong support networks and advocacy efforts play a vital role in improving their quality of life. These findings highlight the need for improved healthcare access, societal education, and emotional support.

Keywords: Rare genetic disorders, social stigma, coping strategies, qualitative study, patient experiences, support networks

Paper Id: 231263

Published On: 2024-02-07

Published In: Volume 12, Issue 1, January-February 2024

Cite This: Living with Rare Genetic Disorders: A Qualitative Study on Daily Challenges, Social Stigmas, and Coping Strategies - Kholoud H. AlDubayan, Amal M. Hariri, Mohammed B. Mubarki, Mshary A. Aldraihim - IJIRMPS Volume 12, Issue 1, January-February 2024. DOI 10.5281/zenodo.13853530

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