Solving the “information challenge” of rare disease diagnosis

Getting a diagnosis is often the biggest challenge facing a rare disease patient in the UK. We take a look at efforts from charities, the government and digital innovators to boost awareness of rare conditions among GPs and make the clinical pathway smoother for patients.

There are more than 150,000 people living with a rare neurological condition in the UK, which taken together means that these conditions aren’t actually that rare at all – and that’s just for one slice of the wider rare disease population.

This figure comes from a new report by the Neurological Alliance, which is calling for better treatment and care for these 150,000 people.

The report, ‘Out of the Shadows: what needs to change for people with rare neurological conditions’, includes extensive input from member charities of the Alliance, in addition to expert clinicians.

It points out that while the number of people living with rare neurological conditions equals the number who have other conditions, such as some types of cancer, people with rare neurological conditions are “all too often left behind when it comes to accessing the care and treatment they need”.

The authors note that it was likely that more than 200,000 people would be waiting for their first neurology specialist appointments by the end of 2020. These patients risk experiencing further delays and gaps in their support due to overstretched services and waiting lists exacerbated by COVID-19.

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