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Leann Stadtlander


Alpha-1 antitrypsin deficiency, for which there is no cure, is one of the most lethal genetic diseases among the European White population. Early and proper diagnosis is challenging, as understanding how both alpha-1 antitrypsin deficient patients and their family caregivers cope with their related stressors on a daily basis. This qualitative phenomenological study incorporated the biopsychosocial approach, the Bowen family systems theory, and the family systems model of illness to examine the experiences of Alpha-1 patients and their family caregivers related to living with the disease and coping strategies. Participants were recruited with the assistance of a national organization that serves the study population. Sixteen participants, (8 alpha-1 deficient individuals and 8 primary family caregivers) were interviewed. Data were analyzed to identify codes and resulting themes. The data analysis led to the identification to the following themes: (a) shock; (b) misdiagnosis; (c) lack of awareness; (d) lengthy multiple medical evaluations necessary to be appropriately diagnosed; (e) caregiver shock; (f) caregiver despair in watching their loved ones struggle; and (g) keeping busy and a positive family dynamic because factors help the participants cope with the challenges of alpha on a daily basis. The results provide an understanding of the complexities of alpha-1 deficiency and how it impacts the lives of alpha-1 deficient participants and their family caregivers. This information might be used by alpha-1 community members and health care practitioners to bring about social change by creating additional resources needed to improve communication between the health care system and alpha-1 community, as well as assist alpha-1 patients and caregivers in managing the disease.

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