Need to know
For #TeamEEAST Last updated: 16 April 2024 at 12:01
‘There is no disease so rare that it does not deserve attention’, Orpha.net.
Rare disease.
Here in the UK, a single ‘rare disease’ affects up to about 30,000 people. But the vast majority will affect far fewer than this – and some will affect only a handful, or even a single person in the whole of the country.
So what happens if you’re called to provide care to that one person?
As a clinician, there are some conditions that you might only come across once in your entire career. To help with your clinical decision making for these patients, the Trust has a ‘rare conditions handbook’ that covers a small selection of the rare disorders that you might come across.
Download a copy of the handbook here.
Its creation was inspired by Adam Cash, a Trust patient who very sadly died as a result of Addison’s disease; at the time, limited information about Adam’s illness was available to the ambulance crew that attended to him.
As today (28th February) marks Rare Disease Day 2017, we’re asking all colleagues to refresh their knowledge of the handbook, or to read it if they haven’t already.
Head of Clinical Quality Tracy Nicholls said: “Adam’s poignant story remains in our memories, and I’d ask everyone to have a look at the handbook; whilst it by no means covers all rare conditions we might see, I hope that you’ll find it useful in providing some advice and guidance.
“I know that these situations, when we’re faced with something we haven’t come across before, can be difficult ones to manage. Remember to safety net each other, especially if you’re supervising someone, to make sure you’re not ‘on your own’ making these care decisions. We can’t all know everything about every condition - if you want a second opinion or to check your understanding, please remember that the Clinical Advice Line is available to you 24/7.”
The Trust is hoping to update the rare conditions handbook soon; if there are any new conditions that you think would be worthwhile to include, please contact the area clinical lead and internal communications teams – we’d welcome your views.
A rare disease is defined by the European Union as one that affects less than five in 10,000 of the general population. There are between 6,000 and 8,000 known rare diseases, and around five new rare diseases are described in medical literature each week. Find out more by visiting www.raredisease.org.uk.