Tales of a Children's Doctor

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 work hard to obtain this for Charlie. In this episode we discuss how the Vagus Nerve Stimulator was developed, how we managed to obtain the treatment for Charlie (only the second child to be implanted in the UK) and the outcome for Charlie and his mum.

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 family and learn how they support the affected children.

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 advance our understanding of severe developmental disorders. I illustrate the concept of de novo genetic disease by re-visiting Sophie, the girl with Dravet syndrome, and taking you through the recognition of the genetic basis of this severe epileptic encephalopathy and some of the exciting advances that are just around the corner in terms of potential genetic treatments for this condition.

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 disorder. The episode discusses the diagnosis and nature of autism and considers this as an alternative developmental route which is the accompaniment of a variety of problems, in Sophie's case her early onset severe epilepsy.

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 who had an extremely rare genetic neuropathy called giant axonal neuropathy. I outline the underlying genetic cause of this in brief. Finally I leave Sydney and return to the UK to start the next chapter in my career. Before embarking on that in Series 2 we will meet another friend of mine who is now a senior academic in Clinical Genetics and he will have more stories to tell.

I return to Yorkhill only to find myself attached to paediatric cardiology. We discuss a tiny baby, Tom, who is admitted with a very serious congenital heart defect known as transposition of the great arteries. The challenges his parents face and the support they receive from the cardiology staff is substantial and you need to listen to find out what happens to Tom. We also discuss an infant who develops a very severe form of epilepsy known as Dravet syndrome and briefly review this epilepsy and the challenges it brings. I find myself applying for a consultant post in Sheffield for interview practice and I prepare to move to Australia for an attachment in child neurology in Sydney. Website: childrensdoctortales.co.uk Facebook: @talesofachildrensdoctor

As part of training in paediatric neurology I have a year long attachment at the nearby adult neurology unit. We discuss the challenges that adult neurology brings and I recall three patients who made a particular impact on me for a variety of reasons. The first is a young man who presents with a functional neurological disorder causing him to be unable to walk. I discuss current thinking about functional neurological disorder and the considerable advances that have occurred in this condition. The second is a lady who suffers a sub-arachnoid haemorrhage late in pregnancy - we discuss this condition. Finally we talk about another young man who developed a very severe drug reaction to LSD. This was a condition known as neuroleptic malignant syndrome - something which usually complicates treatment with certain anti-psychotic medications.

I talk with another friend and colleague from my time at Yorkhill. He tells us something about his career since he left paediatrics and we discuss a child we both came across who had a condition known as Cystic Fibrosis. There is a short update about cystic fibrosis and then we discuss a premature baby who did very well and for whom John has very long term 'follow-up' information. We discuss changes in medicine, progress and the importance of team working.

A short episode revealing the joy and challenge of children having to spend time in hospital at Christmas. I present the story of a young girl with severe epilepsy who spent one of many Christmases in hospital and discuss how the staff made it special for her and her family.

I plan to leave Glasgow for a research post in London but a last minute "reprieve" results in promotion to a Senior Registrar post remaining in Yorkhill. We discuss an extremely sick child who presented with a condition which, although still very rare, was seen surprisingly frequently in the mid 1980s. This condition is known as Reye syndrome. I discuss the condition and the learning that arose from it. We look forward to the next steps on the way to being a consultant in child neurology.

In this episode I discuss a baby who, at first glance, appeared to have extensive brain injury following a respiratory illness called bronchiolitis. The baby was unable to breathe or move. In fact, the cause for the baby's severe neurological abnormality was very different and the outcome was excellent. The initial concern was that this baby was brain dead but the reality turned out to be very different. I discuss brain death in childhood. I discuss why this baby failed to breathe, and the recovery from his illness. I also briefly describe bronchiolitis. In the second half I tell the story of an eight year old boy who presented with seizures. He had a very specific type of childhood epilepsy which remits before adult life. The initial seizures were very frightening for him and his family but the outcome was very positive. I discuss this form of epilepsy (known as Benign Childhood Epilepsy with Centro-temporal Spikes or BCECTS).

For the first time I interview a friend of mine, with whom I worked as a registrar in Glasgow. He shares two stories which tell important lessons about always thinking about the individual, even when considering the wider health of the nation. The first child had polio which occurred as a result of polio vaccination. This was a serious problem for the child and her family but I discuss the incredible benefits that have accrued from the introduction of polio vaccine. Nowadays this wouldn't occur because we no longer use a live polio virus in the vaccine. The second story is about a boy with Down syndrome who underwent cardiac surgery - offering this in the 1980s was very rare and we discuss the important changes in attitudes that have occurred since then. Happily in modern times the rights of the individual are paramount and we are moving away from making value judgments about children and adults based on diagnosis. We're not there yet but progress is being made!

This episode discusses two children - one of whom I saw as a floppy baby on the neonatal unit. She turned out to have a condition known as Prader Willi syndrome and I discuss what this condition is. I also describe a little boy who I met because of his difficult to treat epilepsy - he had a neurological disorder called Angelman syndrome. These two conditions are both due to a loss of genetic material from one chromosome (chromosome 15) but these completely different conditions arise depending on whether the father's or the mother's DNA is missing. I also discuss a complication of the epilepsy which can occur in Angelman syndrome - a problem called non-convulsive status epileptics.

Early days as a registrar in neurology. I discuss a child with Friedreich's ataxia and describe this condition. Some musing on the importance of effective communication when breaking bad news. A little girl presents with reflex anoxic seizures and I talk about diagnosis and management of this problem as well as its nature.

My return to Yorkhill as a registrar in paediatrics and starting in neurology. The challenges of acute paediatric on call - a child with very severe meningitis but an excellent outcome. Learning lessons about the importance of seeing the child and not the investigations - limitations of brain scans. A girl with what appeared to be Guillain-Barré syndrome but turned out to be something much longer lasting. All backed up with an explanation about meningitis, Guillain-Barré syndrome and chronic inflammatory polyneuropathy - an immune mediated condition affecting the nerves.

Experiences in general paediatrics and a first experience as a middle grade doctor in neonatology. We meet a child with myopathy, consider the serious condition known as acute epiglottis (rarely seen now) and meet a tiny baby with a very serious bowel condition.

The start of training in Glasgow. Attachment in paediatric cardiology and the experience of a baby with ventricular septal defect. Some information about VSD. Important lessons in general paediatrics and a first exposure to neonatology. The story of a pair of 28 week gestation twins - a difficult night and a positive outcome.

Introducing my career in medicine - beginning with my medical school training in Edinburgh and early work in Zimbabwe. Two uplifting stories about sick children and a brief description of how a ventilator works.