ELEVATING AWARENESS | 29 February Is Rare Disease Day

Joining forces with the Rare Disease Day movement, the Thalassaemia International Federation (TIF) passionately champions the rights of individuals affected by thalassaemia, sickle cell disease and rare anaemias. TIF is on a mission to guarantee that every patient receives equal opportunities for accurate diagnosis, effective treatment and the utmost quality care. In a strong show of unity, TIF aligns with the 300 million people globally living with a rare condition, reinforcing their commitment to making a difference.

Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose.

The day was set up and is coordinated by EURORDIS and numerous national alliance patient organisation partners. It is observed every year on 28 February (or 29 in leap years)—the rarest day of the year.


What are Rare Diseases?

Rare conditions are a public health priority; as recognised in the first United Nations resolution on Addressing the challenges of persons living with a rare disease and their families.

A rare condition is defined as a disease that affects no more than one in 2000 people. Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

72% of the diseases are genetic and almost 1 out of 5 cancers is rare.

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.


What Are the Universal Challenges Faced by People Living with a Rare Disease?

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis.

The need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.

Owing to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to  disease, but also from patient to patient suffering from the same disease.

Research needs to be international to ensure that experts, researchers and clinicians are connected.












The Rare Anaemias International Network (RAIN)

The Thalassaemia International Federation (TIF) is a proud supporter of Rare Disease Day and demonstrates its commitment by founding the Rare Anaemias International Network (RAIN). As a global entity, RAIN brings together patient advocacy groups, healthcare professionals, and individuals dedicated to championing the rights of those afflicted with rare and ultra-rare anaemias.

Rare anaemias represent a diverse group of disorders characterized primarily by anaemia. They include about 90 distinct types that can be hereditary (chronic) or acquired.

Despite each disorder’s unique pathophysiology within the rare anaemias category, there exists a set of common requirements and overarching challenges shared among these conditions. RAIN is committed to tackling these collective issues and ensuring that people with rare anaemias have equal access to healthcare and support on a global scale.


Join the Movement!

Though Rare Disease Day is patient-led, everyone, including individuals, families, caregivers, healthcare professionals, researchers, clinicians, policy makers, industry representatives and the general public, can participate in raising awareness and taking action today for this vulnerable population who require immediate and urgent attention.

Rare Disease Day provides an energy and focal point that enables rare diseases advocacy work to progress on the local, national and international levels.


Visit the Official Page for Rare Disease Day ⧉



See More:

25th Rare Disease Day – a year of opportunity for life-changing therapies
By Dr Androulla Eleftheriou (Thalassaemia International Federation), Mark Battaglini (Alliance for Regenerative Medicine) and Stefano Benvenuti (Fondazione Telethon)

Back to top button