abstract
- BACKGROUND: Fifty years ago Andreas Rett first described in great detail what came to be known as "Rett syndrome." Understanding girls and women with this syndrome and their families helped in many ways to revolutionize modern neurodevelopmental medicine. For some people the identification of the genetic underpinning of the syndrome and the ongoing biological research into this condition represented the peak of the scientific accomplishments in Rett syndrome. For others, it was developments in clinical research methodologies that were especially important. Above all, the patient- and family-oriented empathetic and collaborative approach to care by professionals collaborating with families has led to immense achievements, both scientific and humanistic. AIM: The aim of this narrative was to describe the medical and personal life story of a young woman with Rett syndrome and to offer a history that highlights developments in the unraveling of this condition from its initial recognition to our current understanding. CONCLUSION: We believe that much can be learned from the humanistic style of care provision combined with the best possible level of assisted autonomy and life enjoyment of the young woman with Rett syndrome. In addition, the approach to collaborative research by dedicated and often charitable leaders in the field can teach us many important lessons about the ethics of clinical and health services research.