The Patients’ Experiences of Burden of Neurofibromatosis: A Qualitative Study

Neurofibromatosis Type 1 (NF1) is a common autosomal disorder; the criteria for the  diagnosis of NF1 includes café au lait spots, freckling, and Neurofibromas (NF). Skin symptoms  have a major impact on patients’ Quality of Life (QOL) but little is known about the burden of  the disease on patients. The aim of this study was to explore the experiences of patients with NF.

Using purposive sampling, 20 participants were enrolled in this qualitative  content analysis study. The study was carried out between 2019 and 2020. Unstructured interviews  and field notes were used to gather data. Data collection was stopped when data saturation was  achieved.

Data analysis revealed 14 subcategories and 4 categories including “failing and  falling behind in life”, “deprivation and restriction”, “social isolation”, and “ineffective adaptation  to the disease”, which indicate the perception of patients with NF.

In addition to  the physical burden due to physical complications and problems, NF imposes a high degree of  psychological and social burden on patients causing mental conflicts, which in turn results in them  failing and falling behind in life. These findings illustrate the need to develop strategies and use  multidisciplinary approaches to support patients, and thus to reduce the burden of NF.