Sam is EPIC's Patient Representative. Hello, I’m Sam, a parent and patient representative working on the PPIE activities alongside Laura and Iva. Professionally, I work as a project and implementation manager, but I also bring lived experience as the mum of two boys, one of which lives with a rare genetic variant/condition KCNB1 which has caused, amongst other challenges, epileptic spasms. Navigating his journey has given me a deep understanding of the emotional, practical and medical challenges families can face, and it’s one of the reasons I care so deeply about this work.I am extremely passionate about ensuring that patient and parent voices are heard throughout this project, and that everything designed is inclusive by nature so it is accessible to everyone who may need to use it.I am excited about the difference this project has the potential to make, not only in improving diagnosis journeys for families, but also in helping clinicians support their patients through the fastest and most effective route to diagnosis. This article was published on Monday 6 July 2026
