I’m attending the UK Rare Disease conference 2019 in Edinburgh today where the UK strategy on managing rare diseases is being discussed. A lot of the presentations are focussed on the scientific development and genomics but it has been very useful to meet others working to improve the treatment of rare dieases in the UK.
I’ve made some interesting contacts who share an interest in developing the skillsets in doctors in supporting rare diseases. Their belief, and mine, is that junior doctors need to be exposed to rare diseases at any early stage, and for them to be given the opportunity to develop an expertise, even if it isn’t their primary field. This could mean that more sleep experts enter the field, and with some interested in diagnosing and treating idiopathic hypersomnia.
Finally I’ve had a long discussion with people working with Myotonic Dystrophy; some of their patients suffer from EDS with symptoms similar to IH, and who receive little or no support in managing this disabling condition. I have a selfish side to my approach too; maybe this will create more data, and a bigger treatment pool for EDS in the UK, enhancing the treatment opportunities for IH patients in the UK, and further supporting rare diseases.