Estelle Wagner, Aurélia Bertholet-Thomas, Mélanie Romier, Laure Loin, Sandrine Lemoine, Emmanuelle Vignot, Sacha Flammier, Charlotte Garnier, Aurélie De-Mul, Corinne Feutrier, Sandrine Juillard, Béatrice Thivichon-Prince, Guillemette Lienhart, Justine Bacchetta
X-linked hypophosphatemia (XLH) is a rare, multi-systemic, invalidating disease requiring a multi-disciplinary approach. No specific action in XLH, neither for the patients' specific needs nor for the methodology for the evaluation of these were found. Thus, to identify the needs of XLH patients and their caregivers, we organised focus groups in our reference centre with a view to build educational sessions. Focus groups including either XLH children, XLH adults, or caregivers ran in parallel. Each group was led by a person trained in therapeutic education (nurse, paediatric nephrologist) with another healthcare provider specialised in XLH (rheumatologist, nephrologist)...
January 29, 2024: European Journal of Medical Genetics