Rare Disease Week 2026: In Conversation with... Diana, GP and Mum to Sebbie

In Conversation With… Diana, GP and Mum to Sebbie | Rare Disease Week 2026 As part of our Rare Disease Week 2026 series, this video features a conversation with Diana, a GP and mum to Sebbie. Diana shares her personal perspective of navigating the healthcare system not only as a clinician, but also as a parent of a child with SHINE syndrome. A rare genetic condition caused by a change in the DLG4 gene. In this discussion, Diana reflects on the unique experience of balancing her professional knowledge with the emotional realities of being a parent. Part of our Rare Disease Week series, this conversation highlights the human stories behind rare disease diagnoses and the value of lived experience in shaping better awareness, support, and understanding. Who should watch: • Healthcare professionals • Researchers and those working in genomics • Patient advocates • Families affected by rare diseases • Anyone interested in learning more about the lived experience of rare conditions Rare Disease Week aims to raise awareness of rare conditions and amplify the voices of those living with them every day. #RareDiseaseWeek #RareDisease #PatientVoices #Genomics #Healthcare #RareDiseaseAwareness #GeneticTesting