As regulators, developers and patient groups work tirelessly to increase the treatments available for many of the over 7,000 different rare diseases, there remains one huge barrier to getting people the treatment they need.
Doctors are unlikely to come across rare diseases all too often, and because encounters with rare disease patients are so rare, dedicating more time to teach doctors about rare diseases at medical school is often seen as a waste.
There are many who say that it takes on average 5 years to be successfully diagnosed with a rare disease. This is far too long a time, but whose fault (if anyone’s) is it? A recent court case in Australia highlighted the tension in this area, as a patient attempted to sue her doctor for failing to recognise her rear disease and refer her to a specialist quickly enough.
Fortunately patient organisations, developers, med-tech companies and regulators are stepping up their efforts to educate doctors and give them the tools to diagnose rare diseases.
But to give a bit more information, below is an infographic from Shire which gives facts and figures regarding the challenges faced by physicians when it comes to rare diseases.