Parental Experiences in Neurofibromatosis Type 1 (NF1)

RESEARCH AIM: This qualitative study aims to explore parental experiences in Neurofibromatosis Type 1 (NF1). Specifically exploring experiences and expectations surrounding dual diagnosis, treatment options, educational needs and psychological support.

INTRODUCTION: Neurofibromatosis Type 1(NF1) is a complex genetic condition that is characterised by changes in skin colour and the growth of benign tumours along the nerves of the skin and other parts of the body. Each diagnosis differs in severity and can be accompanied by other features including; learning difficulties, seizures, motor deficits, specific bone defects and scoliosis (J. Friedman, 1993)

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Neurofibromatosis Type 1 continues to receive global attention and numerous databases have been created in order to support research. For example, The National Neurofibromatosis Foundation (NNFF), The Leiden Open Variation Database (LOVD) and The Human Gene Mutation Database (HGMD) Databases such as these hold information regarding demographic, genetic and clinical information, which has been used to better our understanding of the condition. Despite the growth in research, its focus has predominantly been on the clinical and genetic factors of NF1, and lacks an exploration of issues surrounding experiences and quality of life in individuals diagnosed with NF1 (Vranceanu, Merker, Plotkin, & Park, 2014)

Due to this gap in the literature, there has recently been a rise in research that explores the experiences of children and young people with NF1, but what is more apparent is the lack of research that explores NF1 from a parental perspective (Barke, Coad, & Harcourt, 2016). Research has highlighted the importance and need for further research into parental experiences in NF1.

Ablon (2000) found that due to the uncertainty and unpredictability of NF1, parents are likely to experience high levels of anxiety and stress and require a higher level of support, especially during early diagnosis. The sample of participants were only recruited from support groups; therefore the results of this study may not be representative of the larger population of parents of children with NF1. It may have been beneficial to recruit participants from other sources, such as online forums. In addition to this, the study was conducted in 2000. Therefore, it would be valuable to explore experiences and expectations surrounding diagnosis to the present date.

Pierre-Louis (2018) identified that parents were interested in a resiliency intervention, which also highlights the need for additional support for parents. Therefore, further research into parental experiences and expectations is required to help to inform the development of interventions and support services for parents. The study has some limitations. Firstly, the study was conducted in the United States; therefore, it would be difficult to generalise the results to parents in the UK. Next, the study was conducted through focus groups. Although focus groups encourage an in-depth dialogue, they can also have the potential to encourage socially acceptable ideas to emerge (Smithson, 2000)

According Barke et al., (2016) a lack of understanding, of the condition, by others, was seen as a challenge for parents of children with NF1. This study highlights the need for further research, into parental experiences in NF1, and identifies the vital contribution the viewpoint of parents can make in understanding the phenomenon of NF1. Information provided by parents can provide a unique understanding of issues concerning positive and negative experiences. It is important that we gain this point of view of the parent, rather than the professional, in order to provide a more supported experience for families living with NF1.

Despite a rise in literature in NF1, there still continues to be a lack of research that predominantly focuses on parental experiences and expectations when caring for a child or young person with NF1. This study aims to address this gap in current literature, by exploring experiences and expectations surrounding diagnosis, treatment, educational needs and psychological support. The results of the study could have the potential to be used to inform the development of services and interventions available to parents, in order to move towards a psychosocial model of provision for parents.

METHODOLOGY: The study is a qualitative study that will conduct semi-structured interviews via skype or face to face. The sample size will be contextual, as the number of participants has not been pre-determined. Participants will be recruited until data saturation has been achieved. Doing this can allow for a more in-depth analysis. The interviews will focus on experiences and expectations surrounding diagnosis, treatment options, educational needs and psychological support. Semi-structured interviews have been chosen as our preferred method. A focus group was considered, however semi structured interviews can reduce the risk of the participants being influenced by others and essentially just agreeing with each other. It also removes the potential of ‘more experienced’ or ‘dominant voices’ taking control of the discussion. Semi-structured interviews will allow questions or points of discussion to be directed to each parent rather than a large group. Although focus groups can trigger topics for discussion, interviews with parents still have the potential to do this.

In order to recruit participants, advertisements will be shared through online forums such as Inspire Neurofibromatosis Network, social media including Facebook groups and e-mails will be sent to parents linked to the Childhood Tumour Trust, who have given their consent to be contacted regarding future research. The advertisement will explain that we are looking to recruit participants who would be interested in taking part in interviews, in order to explore experiences of parents of children/young people with NF. They will be informed that the information will be used to contribute to current research and may be used to help inform the provision of support for parents. Participants will be provided with contact details if they wish to participate. Participants will be given the opportunity to ask questions before responding to the advertisement.

INCLUSION CRITERIA: Participants will need to be the parents or primary care giver of and live in the same house with the child or young person. The age of the child/young person with NF1 will be between the age of 0 and 24, in accordance with the definition of young person (UNICEF, 2011)

PROCEDURES: Participants who express an interest will receive a consent form via email and will need to sign the form before taking part in the interview. Dates will be agreed and confirmed with interviewees and will receive a reminder on the day of the interview. Due to some or all interviews taking place via Skype, interviews will provide flexibility.

DATA COLLECTION:The interviews will be conducted by the lead researcher and will follow the same structure across all interviews. The interviews will consist of an introduction, where the interviewer will provide an opportunity to have an informal discussion, this will encourage the participants to feel more relaxed. Semi-structured interviews will provide flexibility and will allow initial questions to be modified in response to the participant. This will be followed by the scripted semi-structured interview. Each interview will be audio recorded and will last between 60-90 minutes. Following the interview, participants will be emailed a debrief sheet, which will allow participants to ask any further questions or add any further information they may have forgotten to talk about during the interview.

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DATA ANALYSIS:The study will be analysed using a qualitative approach using an Interpretive Phenomenological Approach. Previously, health psychology has mostly used quantitative research approaches (Chamberlain, Stephens, & Lyons, 1997) Whereas Johnson, Burrows and Williamson (2004) believe that research should focus on meaning rather that cause and effect or value. Which could lead to the researcher making less presumptions prior to the study. IPA is a useful method to understand under-researched topics, such as Parental experiences in NF1 (Petals et al, 2009) This approach has also been considered valuable for exploring subjects that are complex and emotionally laden (Smith & Osborn, 2015) and has been previously used to explore the experiences of people associated with the individual with the health condition (McCarthy, 2009)

IPA will allow for a deeper level of understanding of participants ‘life worlds’ with an emphasis on interpretation (Smith, 2004) It will also provide an idiographic focus and thus, will allow the study to explore in depth and describe the experiences of parents who care for children/young people with NF1. IPA is an approach that will provide information that can be used to inform current practice or services from the perspective of someone who has lived the experience/phenomenon.

Each interview will be manually transcribed using a transcription technology program. In order to effectively organise and manage data, NVIVO will be used.

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