International Rare Disease Day is a special occasion that we traditionally celebrate on the last day of February.
Why February, of all months?
The choice of date is no coincidence - in leap years, it falls on February 29. It is the rarest day of the year, so it perfectly symbolizes the rarity of the conditions these patients face. This year, this unusual holiday falls on February 28.
Since when, and why?
The first observance took place in 2008 at the initiative of EURORDIS - a coalition of over 1,000 organizations representing patients with rare diseases from 77 countries (www.eurordis.org). In Poland, International Rare Disease Day has been officially celebrated since 2010. It is worth noting that although individual diseases are rare (affecting fewer than 1 in 2,000 people), a total of 300 million people worldwide suffer from them, including 30 million Europeans and nearly 3 million Poles.
International Rare Disease Day is, above all, an expression of solidarity with patients and their families. The observance aims to:
i) raising awareness of the scale of the problem: highlighting the immense challenge posed by the so-called “diagnostic odyssey”—a process that often lasts for years and is exhausting for patients and their families;
ii) emphasizing the need for systemic changes: this is the moment when patients’ voices reach decision-makers, drawing attention to the need to implement legal and financial measures that will genuinely shorten the path to diagnosis;
iii) supporting the fight for access, not only to diagnostics but also to treatment: advocating for better access to modern therapeutic methods, drug reimbursement, and comprehensive care, which, in the case of rare diseases, must be approached from multiple angles.
What diseases are we talking about?
More than 8,000 such conditions have already been identified. They are most often genetic in nature and manifest in childhood, although symptoms sometimes do not appear until adulthood. Prime examples include:
- Cystic fibrosis (a disease of the respiratory and digestive systems)
- SMA (spinal muscular atrophy)
- Hemophilia (blood clotting disorders)
- Fabry disease (a metabolic disorder)
- Prader-Willi syndrome (muscle weakness, excessive appetite leading to obesity).
The key to understanding rare diseases lies in our DNA, as more than 70% of them have a genetic basis. This is why the advancement of genomics - which allows for the analysis of the entire human DNA sequence - is so important. Thanks to national genomic programs and screening tests, it is now possible to:
– earlier detection of diseases—often before the first symptoms appear - avoiding years of going from doctor to doctor;
– implementation of precision therapies – “tailor-made” treatment that directly targets the cause of the disease,
– improving patients’ quality of life – halting the progression of the disease more quickly.
Poland has never conducted genomic testing on a large scale. Free newborn screening tests cover only 7 genetic diseases (https://przesiew.imid.med.pl/badaniaprzesiewowe.html), and pilot programs covering more diseases are not available to the entire population. The few genomic projects carried out in Poland to date have been scattered and involved small groups of patients. “Genomics for Poland (G4PL)” is the first large-scale project in which whole-genome sequencing of patients with rare diseases is planned, so it has the potential to become a true “game-changer.”
