Call for neurofibromatosis specialty care clinics in South Carolina

Grounded in patient input, this study assesses the perceived need for a dedicated multidisciplinary clinic for individuals and families with neurofibromatosis type 1 (NF1) in South Carolina, USA. A 62-question online cross-sectional survey, available in English and Spanish, was distributed to South Carolina residents over age 18 years who were either adults who do not have NF1 but have children with NF1, adults with NF1 who have children with NF1, and adults with NF1 who do not have children or may have children without NF1, to capture a wide range of experiences. Survey responses were analyzed using descriptive statistics to summarize key findings and chi-squared and Fisher's exact tests for categorical comparisons. Free-text responses were examined by content analysis and evaluated by a second researcher. A total of 52 survey responses were analyzed. 90.4% indicated that a specialty clinic should exist in South Carolina. More than 70% of participants reported adherence to medical advice for NF1 and saw a doctor at least once per year, with children and adults seeing several relevant specialists. Analysis of free text responses revealed that participants perceive limited resources and awareness for NF1 in South Carolina, with 4 key gaps identified in both education and clinical care. Establishing a dedicated, multidisciplinary care center for individuals with NF1 in South Carolina can address 3 out of the 4 clinical care gaps and 1 out of the 4 education gaps identified by the content analysis and is highly supported by participant preference.