‘Alone on our NF1 island’: a patient-led mixed-method survey study to understand the care pathway for neurofibromatosis type 1 (NF1) patients in the UK

Background Neurofibromatosis type 1 (NF1), a rare genetic disorder characterised by neurofibroma growth, affects approximately 25 000 individuals in the UK. Its wide range of clinical manifestations presents significant challenges in providing comprehensive care for patients. In agreement with National Health Service England’s Commissioners, Childhood Tumour Trust initiated a patient-led service evaluation to understand existing care pathways and identify factors influencing patient satisfaction. Methods The study was coproduced with patient charities, clinicians and the Patient Led Research Hub. Online surveys were composed for patients, families, carers (PFCs) and healthcare professionals (HCPs) and disseminated through charity and healthcare networks. Structured features were analysed using descriptive statistics to review pathways and examine correlations with care satisfaction. Free-text responses were coded and analysed thematically to explore PFCs’ and HPCs’ experiences. Results A total of 1083 PFC and 94 HCP responses were received from across the UK (783 and 49 were complete, respectively). Overall, 54% PFCs expressed dissatisfaction with NF1 care. While London had a significantly higher satisfaction rate (64%; p=0.01) than the national average, Scotland (30%, p=0.01) and Northern Ireland (16%, p=0.01) had significantly lower rates. Influencing factors included poor care coordination, long specialist wait times and insufficient signposting to charities. Regarding diagnosis and management, 46 HCP roles, 35 referral routes and 16 sources of management guidelines were identified, indicating a lack of clear pathways and care standardisation. Free-text data revealed additional challenges, including limited education and information for families, low NF1 awareness among professionals, inequitable access to specialists and a desire for holistic care. Conclusions This evaluation revealed UK-wide dissatisfaction with NF1 care and a pressing need for system-level changes to improve regional disparities and care coordination, enhance patient education and HCP training and establish standardised pathways with a holistic model to enable high-quality equitable care for all NF1 patients.