February 29th, 2024

Rare Disease Day

Rare diseases are numerous, heterogenous in nature, and geographically disparate. They are charachterised by a wide diversity of symptoms and signs that vary, not only from disease to disease, but also from patient to patient suffering from the same disease. Since rare diseases affect only small portion of the population, frequently go unnoticed in mainstream news, making it challenging for awareness to spread. Rare Disease Day stands as an annual reminder to raise awareness abouth these, often over-looked illnesses and their profound effects on patients’ and caregivers’ lives.

The Challenges

Due to the low prevalence of each disease, medicl expertise is rare, knowledge is scarce, care offerings inadequate and research limited. Despite their great overall number, rare disease patients are the ”orphans” of the healthcare systems, often denied diagnosis, treatment and the benefits of research. In the same time, relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis and treatment delay. Typically disabling, the quality of life of a person living with a rare condition is affected by the lack or loss of autonomy due to chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

5 YEARS is the time it takes on average for rare disease patients to get a diagnosis

Additionaly, rare diseases not only affect the person diagnosed- they also impact families, friends, care takers and society as a whole. Based on a survey initiative Rare Barometer Voices conducted by EURORDIS- Rare Diseases Europe, we know that:

• 7 in 10 patients & careres either reduced or stopped professional activity due to their or their family members’ rare disease.
• 2 out of 3 careres spend more than 2 hours per day on disease related tasks.
• 8 in 10 patients & carers have difficulties completing daily tasks (household chores, preparing meals, shopping etc.)
• 3 times more people with a rare disease and careres report being unhappy and depressed, in comparison with the general population.

These challenges have led Rare Diseases emerging as a public health priority in Europe.

Definitions

While there is no universal definition for Rare Diseases, the concepr of Rare Diseases in the current political and legislative framework is closely linked to a definition based on their prevalence, while existing definitions are explicitly or implicitly based on a prevalence threshold. The Council of Ministers of the European Union (EU), has suggested that between 6-8% of the European population could be affected by a Rare Disease in the course of their lives. In the EU, the definition of Rare Diseases was established in the EU Regulation on orphan medical products (1999) as conditions whose prevalence is not more than 50 per 100.000. The American Orphan Drug Act (1983), defined Rare Diseases as disorders affecting <200.000 perosns in the country, which equals to prevalence of 86 per 100.000 at that time. Other national definitions declare prevalence ranging from 5 to 76 per 100.000. In Europe, a disease is considered rare when it occurs in less than 1 in 2.000 people, although most are so rare that they may affect as few as 1 in 100.000 people or less. Lastly, according to the European Union Definition, a rare disease affects 5 out of 10.000 people in one community.

As Rare Diseases become a global public health priority and a global national policy priority, it is eddential to provide an evidence-based estimate of the prevalence of Rare Diseases.

The Numbers

• There are over 6.000 distinct rare diseases, Overall, Orphanet contains information on 6.127 unique rare diseases; 71,9% of which are genetic and 69,9% of which are exclusively of pediatric onset.
• Only 1.200 ou of all rare diseases, have more than five documented cases published in scientific literature.
• Rare diseases affect about 4% of the population during their lifetime with estimates ranging from 3,5% to 5,9%.
• Each rare disease affects fewer than 1 in 2.000 people, while an estimate of 30 million people who are living with a rare disease in 48 European countries.
• Approximately 85% of rare diseases affect fewer than one individual in a million, or fewer than 500 individuals int he European Union.
• Currently, it is estimated that approximately 350.000 to 600.000 patients with rare diseases can be found in Greek population.