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

Neurofibromatosis type 1 (NF1) is a variable and unpredictable genetic condition that can lead to changes to an individual’s appearance. Research has started to explore children’s and young people’s experiences of living with the condition; however, there is a lack of research with parents. This exploratory qualitative study set out to examine parents’ experiences of caring for a young person with NF1. Seven parents took part in semi structured interviews which were subjected to a thematic analysis. Three key themes were identified which related to managing the uncertainty of the condition, the impact of an altered appearance, and others’ awareness and understanding of NF1. Parents felt that understanding NF1 themselves in order to support their child was beneficial whilst a perceived lack of understanding by others was cited as a significant challenge. Parents require trustworthy information and also more widely call for greater understanding and awareness of the condition

The Role of Appearance in Adolescents’ Experiences of Neurofibromatosis Type 1: A Survey of Young People and Parents

© 2016, National Society of Genetic Counselors, Inc. Neurofibromatosis type 1 (NF1) is a genetic condition which can result in varying degrees of visible difference (disfigurement). Adolescence is a time when appearance concerns become more salient for many young people and is acknowledged as a particularly challenging time for individuals with NF1. There is currently little research into the psychosocial impact of the appearance changes associated with NF1 during this stage of life. In order to address this, surveys of young people with NF1 aged 14–24years (n=73), and parents of young people with NF1 (n=55) were developed following interview studies with these groups. The surveys included the Perceived Stigma Questionnaire, Social Comfort Questionnaire, Body Esteem Scale (appearance subscale) and the Subjective Happiness Scale. Young people and parents identified appearance as central to young peoples’ experience of NF1, however no significant difference was found on measures of body esteem, happiness, stigma or social comfort between those young people who reported their NF1 was noticeable to others and those who reported it was not. Findings from the parent survey indicated that their reports of greater perceived noticeability did relate to greater perceived stigma and lower levels of social comfort. Findings highlight the importance of attending to young people’s concerns around appearance in general and managing the possibility of future appearance changes, rather than the current noticeability of NF1