Tales of a Children's Doctor Chris

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 epilepsy. She learned about a way of treating epilepsy using a device called a Vagus Nerve Stimulator about the same time that I came across it at an epilepsy meeting. At the time only one child in the UK had had the device implanted and we had to ...

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 outcome of this fascinating condition.

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 odyssey which results in diagnosis of a very rare condition known as Aicardi Goutières syndrome - I introduce you to this child's brother and, subsequently, his sister both of whom have the same condition. We see the impact of this diagnosis on the fa...

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 basis of severe developmental disorders. In particular he is fascinated by the concept of genetic disease that is not inherited. We talk through his career and some of the important discoveries that he and colleagues have made which radically ...

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 only in terms of her spoken language but also in terms of social understanding. It became clear that Sophie was very limited in her repertoire of play and restricted in her day to day routine. This led her to being diagnosed with an autism spectrum d...

I had an amazing three months in Sydney. This episode outlines my time there - the people I met, the stimulation of the interactions and the challenges of reviewing data from many, many children with complex neuropathies. We discuss two children - one a baby with a severe early onset form of epilepsy known as West syndrome. We look at treatment then and now and see how much we've learned as neurologists in the last few years. I also discuss a young boy who I only met once wh...