Quality of life of patients with Pompe disease
A case study
DOI:
https://doi.org/10.14528/snr.2021.55.1.3048Keywords:
Pompe disease, enzyme replacement therapy, the quality of life, rare diseases, enzyme replacement therapy, quality of lifeAbstract
Introduction: The Pompe disease is a very rare congenital disease. It is marked by a deficiency or absence of the alpha-glucosidase enzyme. Glycogen accumulation in muscle cells consequently leads to the weakening of muscle strength, intense pain and progressing breathing difficulties. The purpose of this research was to determine the impact of the disease on the quality of life and health care problems that these patients have.
Methods: A qualitative research methodology was used. We conducted a semi-structured interview with a patient who was diagnosed with Pompe disease. The interview was recorded, transcribed and analyzed by using the method of content analysis.
Results: It has been found that Pompe disease greatly affected patients' quality of life. Content analyses identified five subcategories: accepting the disease, help given by close family and friends, difficulties due to the disease, performing everyday activities and treatment. The subcategories were then combined into a main category 'the effects on the quality of life'. We also emphasized seven nursing care problems: fear, sadness, difficult breathing, pain, obstipation, fatigue, danger of falling.
Discussion and conclusion: Pompe disease significantly changes patient's quality of life since these patients face many problems in different areas of life. To ensure a higher quality of life and simple performance of everyday activities, it is important that patients receive adequate help and support from close family and friends, and health care professionals.
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