In this episode we meet Charlie, a young man with an extremely severe epilepsy which was not responding to optimal anti-epileptic drug therapy.  His mother was an amazing lady who searched far and wide for options to help treat his epileps...

Welcome to Episode 2 - let's dance.  In this episode we meet Ella who presents with a condition known as Sydenham's chorea.  We discuss the impact of this on her and he family and talk about the history, diagnosis, treatment and outco...

This is the first episode in the second series.  I start my consultant career in Sheffield. On my first ward round I meet a mother who has just lost her child with what is thought to be cerebral palsy.  This leads to a diagnostic odys...

I speak with a friend and colleague of mine with whom I worked in Yorkhill.  He is now a Professor of Clinical Genetics at the MRC Genetics Unit in Edinburgh and has devoted his life and career to understanding the genetic and metabolic ba...

This is a short episode which examines the outcome for Sophie who we met in Episode 12. Although her early development appeared to be on track, as she became older it became clear that she was developing difficulties with communication, not onl...