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#Dare To Think Rare

What’s it all about?

Have you ever heard the adage “hear hoofbeats, think zebra”? Or “common things are common”? These phrases have been used to discourage medics from thinking about uncommon diagnoses. They are part of everyday medical rhetoric and they influence our clinical decision making.

But what if we told you that rare diseases are collectively common? It’s true! Here are some basic facts and concepts relating to rare disease.

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Rare Diseases are collectively common

  • 3.5 million people in the UK are affected
  • 1 in 17 will be affected by a rare disease in their lifetime

Rare Diseases are relevant

  • Approx 70% present exclusively in children
  • Approx 80% have a genetic cause
  • Genomic medicine is advancing at an exciting rate
  • Therapeutic and management options are improving rapidly

Rare Disease is a discipline

  • Different rare diseases present common challenges caused by their rarity
  • There are common ways to approach, manage and treat rare patients
  • You do NOT need to know the 7000 rare diseases!
  • You do need to know how to alleviate the challenges caused by having a rare condition

Rare diseases are currently under the radar

  • Advancement in diagnostics is out-pacing education and training
  • There is a drive to reduce the diagnostic delay
  • There is more research into rare disease than ever before
  • Rare disease is a health priority in UK as demonstrated by The UK Rare Diseases Framework published by the Department of Health and Social Care in January 2021
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M4RD is advocating for the inclusion of dedicated Rare Disease training to be added to medical education curricula. But in the meantime you can make a difference by following M4RD and receiving your training from us. Become a #RareAlly!

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Evidence shows that medical professionals are frequently overestimating how rare an individual rare disease is and under-estimating the prevalence of rare disease in the UK.

A rare disease is defined as one that affects <1 in 2000 people in the UK.

An estimated 3.5 million people live with a rare disease in the UK

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Only 9 rare genetic conditions are screened for at birth in the UK, in comparison to the USA where at least 35 conditions are screened.

… and in the remainder of the “EU5” countries:
Italy – 48 to 58
Germany – 21
Spain – 7 to 40
France – 6 to 15

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What is the diagnostic odyssey?

Receiving a diagnosis for a rare condition is vital for patients to receive appropriate management and support. People in the UK will wait on average 4-6 years to receive an accurate diagnosis. This process is not only long but often traumatic for patients as they often experience scepticsm from HCPs, frustrating referral loops or medical ping-pong from one specialty to another. Misdiagnoses can lead to inappropriate intervention.

This collective experience of the rare disease community is so infamous that it has a name. The diagnostic odyssey.

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Long diagnostic journeys can have a significant impact on a patient and their family, resulting in deteriorating mental health, isolation, loss of education or employment due to poorly managed symptoms and lots of appointments. People report relationship breakdown and prospective parents may be left undecided about starting a family.
With a diagnosis, patients are given the vocabulary to be able to explain what is happening to them to others and have their experiences validated. They can reach out to others with the same condition, and can receive support that they’re entitled to. They can also be managed more optimally and take part in research.

If would like to help us with our mission, please get in touch.

We would love to hear from medical students to consultants and everyone in between