Twitter chat on #raredisease

On 5 November the regular #irishmed twitter chat (Wed, 10pm) hosted a discussion on rare disease. The regular host is @drlfarrell, a GP and writer, and he asked our own @speccymcspec to co-host. Questions included: how common are rare diseases?; which is more challenging, diagnosis or treatment?; who/where are the experts?; what support is available? There were over 100 individual tweeters from around the world participating and nearly 1000 tweets sent. It was the busiest hour on twitter ever experienced by many of us. So great was the interest it was difficult to keep up. Thankfully, a transcript is available, and is worth checking out.

the #irishmed connections

the #irishmed connections

A flavour of what was said is below- from my own notes: check the transcript for full record.

On diagnosis

– uncommon presentations of common conditions are more common than common presentations of uncommon conditions

– late diagnosis can be disastrous

– disparate symptoms with no dot joining

On management

– hard to do with no experience

– management eased by internet and support groups

– may not need orphan drugs, but better management

– centres of excellence safer than sub optimal local management

– best healthcare professionals realise they need bigger teams

On expertise:

– if you’re a patient with a dangerous rare disease and you’re not dead yet, you’re an expert

– lots of experts, patients, families, doctors, nurses, phas; communication is key

– patients are creative about finding support -‘I don’t know’ leads to progress, new treatments, new ways of thinking

– Dr Google

Key actions noted:

– increase awareness

– support GPs

– support clinical teams

– improve access to genetic testing

– need for validated/ curated sources of information

– guidelines for diagnosis and treatment in line with international expertise

– registries

– working together, importance of collaboration & communication

– research

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