When we talk about rare diseases, we don’t just mean those that are less common. And although global definitions differ, the World Health Organization categorises rare diseases as those that affect fewer than one in 2000 people.1
As well as a challenge for those with these conditions, rare diseases present an onerous set of trials and tribulations for healthcare services.
In a 2018 report, the cost to NHS England of rare disease patients, up to the point of a diagnosis, was greater than £3.4 billion during a 10-year period.2
Rare but not uncommon
Although each one affects fewer than one in 2000 people, there are between 6000 and 8000 known rare diseases, with new conditions being discovered all the time. This means that approximately 400 million people are affected worldwide, with 70% of rare diseases presenting in childhood.
As well as the large number of people affected, the experience of someone living with a rare disease can be much tougher than the average diagnosis.
Generally, it takes more than 4 years to get an accurate diagnosis, which may include several incorrect ones on the way.
In addition, it can mean multiple visits to specialist centres and undergoing multiple tests before a final diagnosis is reached. Not for nothing is it known as the “diagnostic odyssey.”
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