Notes from a ‘small island’ on Rare Disease Day

It is Rare Disease Day today, 28th February. There is a lot happening and you should check out the Rare Disease Day website for more info .
I’ve already been impressed by the number of NHS organisations tweeting about stuff they have got going on.

Last week I attended a really great meeting on paediatric rheumatology organised by my good colleague Sharon Douglas (@sharonldouglas) from the Medicines for Children Network (MCRN). This brought together parents and charities in the field – which covers many specific and very rare conditions such as Behcets Syndrome or Scleroderma – to discuss common issues and priorities for the future.

To mark today in my own sweet way I thought I’d share my verbatim notes:

– subjects v participants
– knowledge gap/low research awareness among parents and families – commitment needed to take part in a clinical trial
– there is not a lot going on/funding
– attitude and awareness of doctors
– Difficult journeys
– Being taken seriously
– fear over risks in research/side-effects
– what happens when the trial ends
– inexperience in dealing with research/lack of accessible information/understanding research procedures – publication of research results more widely
– peer/community support – communication issues
– culture of openness
– language and understanding gives confidence
– perceived power base of medical profession
– access to information
– regulatory barriers to advertising of research

I hope the notes convey the fact that while many rare diseases may appear ‘small islands,’ there is much that is common to them all. And that this commonality not difference should be the focus of Government and policy-makers in changing the prognosis for rare diseases in the future.

[written on my train to Leeds]

One thought on “Notes from a ‘small island’ on Rare Disease Day

  1. Absolutely Simon, meeting covered lots of common concerns with lots of agreement on the issues common to paediatric rheumatology and indeed consumer involvement (or not) in research. The common difficulties of children with chronic illness and an overlap in treatments makes for lots of potential for collaboration amongst us. This meeting was a very positive step towards linking parents, MCRN consumers, charities and organisations to support cohesively the involvement of patient/parent/carer in research and to give all (rare and less rare) the opportunity to provide a collective voice as we make steps towards this aim. Appreciate hugely your input thanks.


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