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Rare Diseases Q1 2023

A global community demands visibility for people with a rare disease

iStock / Getty Images Plus / mantinov

Durhane Wong-Rieger

President, the RDI Council

Hlawulani Mkhabela

RDI Strategic Engagement Manager

People living with a rare condition experience a kind of invisibility which exacerbates inequity, discrimination and injustice. Imagine a community of over 300 million people fighting to be seen. 

On Rare Disease Day 2023, Rare Diseases International (RDI), a global network of rare disease organisations, has a simple call to action: that the world sees and recognises people living with a rare disease. With this goal in mind, on 28 February 2023, the network will host a virtual event organised in partnership with the Rare Disease Day campaign to spotlight rare disease groups around the world and help raise awareness among the public, policymakers and healthcare systems.  

Recognition is a matter of life and death 

In many countries, rare diseases are virtually invisible to healthcare systems and providers. Primary care clinicians are regularly unable to identify and effectively treat conditions to which they may have limited exposure. The result is a delayed diagnosis, misdiagnosis and inappropriate treatment or clinical management leading to disease progression with life-threatening consequences. 

The majority of rare diseases do not have an effective treatment as research into conditions that affect fewer people is not prioritised, and companies find financial incentives insufficient to drive the development of therapies. Where treatments are available, high pricing and unequal access mean that people fail to receive potentially lifesaving therapies and care. This is especially true for communities in low and middle-income countries.  

In many countries, rare diseases are virtually invisible to healthcare systems and providers.

Rare disease invisibility is social injustice  

In the absence of disaggregated data, the social determinants of health — including work, gender, access to social services and education — are often left out of policies on rare diseases. For example, issues such as isolation and stigma, access to occupational opportunities and the heavy cost of rare diseases on families are often excluded from social support initiatives.  

Policymakers wrongly conclude that other frameworks, such as broader health and disability policies, sufficiently cover people living with a rare disease. However, rare conditions require specific attention, which focuses on the complexities presented by rarity. 

A global shift for rare disease communities 

There are positive signs that this previously unseen community is gaining visibility. As many countries do not have a definition of what constitutes a rare disease, RDI, working with the World Health Organization (WHO), has developed an international description of rare diseases to help inform policymakers worldwide. 

This Rare Disease Day 2023, RDI will dedicate its social media platforms to national rare disease groups worldwide using the hashtag #SeeRare to help shed the cloak of invisibility and demand attention and further action. Catch the #SeeRare event at 14.00 on the Rare Disease Day Facebook Live stream.  

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