‘It's like a bag of pick and mix – you don't know what you are going to get’: young people's experience of neurofibromatosis Type 1

Abstract

Aims To explore the day‐to‐day experience of young people living with neurofibromatosis type 1 in the UK, focusing on the role that appearance plays in this experience. Background neurofibromatosis type 1 is a genetic condition, which is highly variable and unpredictable. It can result in varying degrees of visible difference (disfigurement). Both the effect of NF1 on appearance and its uncertainty can prove particularly difficult for those affected. However, very little research to date has investigated the psychosocial impact of neurofibromatosis type 1 on young people or their experiences of managing it. Design Exploratory qualitative interview study. Methods Nine young people aged 14–24, with a confirmed diagnosis of neurofibromatosis type 1, took part in semi‐structured interviews between March–September 2011. Interview transcripts were thematically analysed. Findings Three key themes were identified from the data: (1) ‘Different things to different people’ reflecting the variability in the condition; (2) ‘Relationships and reactions’ relating to individuals’ social experience; and (3) ‘Understanding and misunderstanding’ reflecting participants’ experiences with organizations and social structures. Conclusions Findings suggest a need for further research to explore young people's adaptation and management of neurofibromatosis type 1. In particular, raising awareness and understanding of the condition among professionals and in the general public was an important issue for young people. In addition, access to trustworthy information about neurofibromatosis type 1 and practical advice to support adjustment to an altered appearance and managing stigma experiences are highlighted as areas to be considered further.

Parents’ experiences of caring for a young person with neurofibromatosis type 1 (NF1): a qualitative study

“…This contrasts with findings from interviews with young people with NF1 (Barke et al 2013) in which the young people themselves specifically highlighted that it was the uncertain nature of the condition and potential appearance changes rather than the current noticeability of NF1 that caused them the greatest concern. Parents felt that NF1 that was more visible to others impacted to a greater degree on their and their child's lives.…”

“…Both the current study and concurrent research exploring the experiences of young people themselves (Barke et al 2013) have explored this overlooked area. Findings highlight the value parents place on information about NF1, access to health professionals with experience and knowledge of the condition and greater awareness and understanding of it amongst the general public, and teachers.…”

“…However, until recently, research in this area has tended to focus on adults with NF1, and there has been a dearth of research into young people's experiences of the condition. In response to this, Barke et al (2013) conducted a qualitative study with nine young people with NF1 and found that the condition appeared to become a more prominent part of many peoples' lives during adolescence. Young people described feeling that there was a general lack of awareness about NF1 and particular challenges related to managing other people's reactions to their appearance and living with the uncertainty of the condition.…”

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

“…Despite this, there are few qualitative studies that explore the impact of NF1 upon the life and health of adults. Previous studies have identified negative impacts on social networks, worries about the unpredictability of disease, and concerns related to the cosmetic appearance of NF1 (Ablon 1999;Barke et al 2014;Benjamin et al 1993;Hummelvoll and Antonsen 2013;Mauger et al 1999;Smith et al 2013).…”

Worries and needs of adults and parents of adults with neurofibromatosis type 1

“…Previous qualitative studies have focused on the impact of NF1 in adulthood, for instance, addressing the effects of plexiform neurofibromas (Lai et al, 2017), health and well-being, quality of life, and transition to adult care (Barke et al, 2014;Crawford et al, 2015;Draucker et al, 2017;Van Lierde et al, 2013). The aim of the current study was to provide more information on the full spectrum of worries and care needs in medical, psychological, social, and economic domains of adults with NF1 and parents of patients with NF1.…”