A qualitative study of the impact of living with neurofibromatosis type 2

Abstract

Neurofibromatosis type 2 (Nf2) is an inherited autosomal dominant syndrome characterised by the development of nervous system tumours, ocular abnormalities and skin tumours. Symptoms of Nf2 can vary depending on the size and location of the tumour and include hearing loss, balance deficits and facial palsy. This study explored the physical, emotional and social impact of Nf2. Six patients were recruited through a neurofibromatosis clinic and underwent a semi-structured interview. Interviews were recorded and analysed using Framework analysis. Participants spoke of the negative impact of Nf2 on daily activities, including work. Social isolation resulted from the avoidance of social situations and was often a consequence of difficulties with communication due to loss of hearing. Patients expressed a range of negative emotional reactions in response to their diagnosis and the impact of the disease. Furthermore, the findings highlighted the important role of partners and family who were relied on for physical as well as emotional and psychological support. Patients also expressed frustration at the limited awareness of Nf2 among health professionals and a desire for improved access to information on Nf2 within their local community.