Identifying the unmet needs of patients with neurofibromatosis type 1 in Singapore.

BACKGROUND

Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with tumour predisposition, and patients often face neuropsychiatric and psychosocial challenges. This study aimed to identify unmet needs of NF1 patients in Singapore to enhance patient care and service delivery.

METHODS

20 patients who were clinically or genetically diagnosed with NF1 were recruited for in-depth interviews. Interviews were transcribed verbatim and analysed using thematic analysis.

RESULTS

Five themes emerged from thematic analysis: (1) NF1 trajectory begins from childhood; (2) Coming to terms with body and self; (3) Perceived acceptance drives disclosure patterns; (4) Need for specialised NF1 care; (5) Building local awareness and connections. Six key unmet needs were identified, namely the need for: (1) Optimised multidisciplinary NF1 care; (2) Management of neurological symptoms; (3) Management of cutaneous lesions; (4) Financial coverage for NF1; (5) Early NF1 screening; (6) Local awareness and support groups.

CONCLUSION

Addressing these needs can lead to actionable steps for improving care and quality of life for NF1 patients in Singapore.