A Nervy Time in Australia

Tales of a Children's Doctor

Feb 5 2021 • 29 mins

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.

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