Rare Disease Day

Rare Disease Day is a global movement created by EURORDIS - Rare Diseases Europe, who represent an alliance of over 1000 rare disease patient organisations. On the theme of “rare”, the reason for having Rare Disease Day on February 29th is of course, because it is the rarest day in the calendar, and when it is not a leap year we celebrate on February 28th. Rare Disease Day aims to raise awareness and provides focus for momentum and energy directed at rare disease advocacy to ensure everyone, including patients, families, companies, and policymakers recognises the high unmet medical needs that remain for the >7000 rare diseases collectively in the rare community.

From countries around the world the definition of rare varies and whilst Rare Diseases International are working on a global definition of rare disease, EURORDIS define a rare disease as affecting fewer than 1 in every 2000 people in Europe.  In the US, The Orphan Drug Act defines a rare disease as a condition that affects less than 200,000 people. Rare Voices Australia define a rare disease as less than 5 in 10,000 people affected.  Rare conditions are often very different in their presentation to more common conditions that affect a single organ of the body. Due to the highly complex, multi-organ involvement in many rare conditions and their individual nature resulting in varied symptoms within a single rare condition, people often experience a journey through various medical departments and hence experience a prolonged time to diagnosis. Did you know that patients may arrive at a diagnosis after an average of 4 to 5 years, and some may discover there is no treatment available? Medical science in rare disease continues to progress and evolve in our understanding, and promisingly there is an increased focus on research and development for new therapeutic options.

“I am very sorry to inform you that there is no available treatment at this time”. Can you imagine being diagnosed with a serious medical condition yet having no available treatment when you visit your doctor? In some cases, treatment may be available in different countries, and patients may be eligible to be part of a clinical trial or Managed Access program. Together with our industry partners, Clinigen currently supports rare diseases in approximately 50% of all Managed Access programs delivered.

Frequently, there is also no formal mental health service provision to people and their families who often will need to come to terms with a life-changing diagnosis. Many will also have to adapt to live with the condition without a treatment and uncertainty about their future.

Therein lies the importance and power of the many rare disease patient organisations. When facing a future without diagnosis or treatment, patient organisations are increasingly forming the only support that a patient with rare disease will have access to. Patient organisations such as Flutters and Strutters represent patients in the rare community, and here is what CEO Carole Scrafton has to say about the importance of Rare Disease Day: “For everyone in the global rare community, I would like to highlight the importance of having mental health support together with the importance of joined-up care for people in the rare community”.

Michelle Conway of CRD Consulting Ltd believes that if the current Rare Disease Framework and Action Plans are to deliver meaningful change for those living with rare conditions, the policymakers in governments must ensure dedicated funding and resources are put in place alongside tangible action plans that can show measurable change for the rare community”.

Did you know the rare community recognise the zebra as the icon for Rare Disease Day? Therefore, on the 28th of February, pick out some zebra stripe clothing to show your support.


[1] (2020) Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database, European Journal of Human Genetics:



[4] Accessed February 2023

[5] (2023) A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Marwaha S et al. Genome Medicine 14 Article Number: 23. Open Access.



[8] Accessed February 2023