Hearing a Zebra’s hoofbeats: Navigating Rare Disease Diagnosis & Care

“When you hear hoofbeats behind you, don’t expect to see a zebra” 

Theodore Woodward’s aphorism, designed to teach medical novices the importance of probability in diagnosis, is a hallmark of medical education, “the epitome of medicine’s practical wisdom”.1 The principle is simple – it is far more likely for a patient to present with a common disease than a rare one. After all, rare diseases are, by their very nature, rare.  

Physicians can’t be blamed for believing common is common and rare is rare. Good medical practice requires a rational and efficient approach to diagnosis. To this end, guidelines, principles for patient management and triage, should be instilled to both mitigate diagnostic and treatment delay. Doctors have a responsibility to not only ensure patients are treated efficiently, but also cost and resource effectively.  

However, what happens when the hoofbeats really are a zebra’s and how may the medical community better hear them?

Children with a rare disease typically have to wait six to eight years before a correct diagnosis.


Rare diseases are an emerging global public health priority, impacting more than 300 million people worldwide. 
There are more than 6,000 rare diseases: 72% of these diseases are genetic and 70% of those genetic rare diseases start in childhood.2  

 

Over one in ten patients with EPP are told their condition is psychological 


Despite recent advances in the understanding, management and treatment of rare diseases, m
any patients face a long and frustrating diagnostic odyssey as they search for answers.

 

The long road to diagnosis presents a significant mental, physical, financial and existential challenge for the individuals and families affected by rare disease, striking in some instances at their very identity. Diagnostic delay can lead to inappropriate disease management, resulting in disease progression and exacerbation and severe mental health consequences as patients struggle to be believed by medical professionals.  

22% of EPP patients must see more than ten physicians before a correct diagnosis. 

The journey to diagnosis and beyond also comes with a steep price tag for many coping with a rare disease. Patients are often subjected to numerous tests, multiple physician visits with differing specialists and unnecessary treatment regimens.

 

Moreover, the impact of this diagnostic odyssey on the mental health of those suffering with a rare disease, exacerbates the burden and cost, as individuals and families combat depression, social isolation and anxiety. These feelings are accentuated in patients where treatment options are limited or unavailable.

Shortening the average six- to eight-year diagnostic journey is the key to a longer, happier and healthier life for individuals and families with a rare disease. 

Every February 28, and February 29 on a leap year, the rare disease community are given a much-needed platform to highlight causes and champion awareness. It’s a time where we can draw attention to inequality, highlight cracks that rare disease patients too often fall through in their diagnostic journeys, and push for solutions. The power of raising awareness comes from amplifying their voice and message to help drive change to form a greater understanding. 

For Rare Disease Day 2021, CLINUVEL is proud to help spread this message through campaigns on our FacebookInstagramTwitter & LinkedIn that help raise awareness, combat disparity and celebrate the rarities of those with rare disease. 

Rare diseases affect more than 300 million people worldwide. Together, we can help them be heard. 

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