{"id":1783,"date":"2026-02-28T11:43:02","date_gmt":"2026-02-28T10:43:02","guid":{"rendered":"https:\/\/genomikadlapolski.pl\/?p=1783"},"modified":"2026-04-27T12:02:16","modified_gmt":"2026-04-27T10:02:16","slug":"swiatowy-dzien-chorob-rzadkich","status":"publish","type":"post","link":"https:\/\/genomikadlapolski.pl\/en\/swiatowy-dzien-chorob-rzadkich\/","title":{"rendered":"International Rare Disease Day"},"content":{"rendered":"<p class=\"wp-block-paragraph\">International Rare Disease Day is a special occasion that we traditionally celebrate on the \nlast day of February.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Why February, of all months?<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The choice of date is no coincidence - in leap years, it falls on February 29. It is the rarest \nday of the year, so it perfectly symbolizes the rarity of the conditions these patients face. \nThis year, this unusual holiday falls on February 28.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Since when, and why?<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The first observance took place in 2008 at the initiative of EURORDIS - a coalition of over \n1,000 organizations representing patients with rare diseases from 77 countries (<a href=\"http:\/\/www.eurordis.org\">www.eurordis.org<\/a>). In Poland, International Rare Disease Day has been officially celebrated \nsince 2010. It is worth noting that although individual diseases are rare (affecting fewer than \n1 in 2,000 people), a total of 300 million people worldwide suffer from them, including 30 \nmillion Europeans and nearly 3 million Poles.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">International Rare Disease Day is, above all, an expression of solidarity with patients and \ntheir families. The observance aims to:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">i) raising awareness of the scale of the problem: highlighting the immense challenge posed \nby the so-called \u201cdiagnostic odyssey\u201d\u2014a process that often lasts for years and is exhausting \nfor patients and their families;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">ii) emphasizing the need for systemic changes: this is the moment when patients\u2019 voices \nreach decision-makers, drawing attention to the need to implement legal and financial \nmeasures that will genuinely shorten the path to diagnosis;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">iii) supporting the fight for access, not only to diagnostics but also to treatment: advocating \nfor better access to modern therapeutic methods, drug reimbursement, and comprehensive \ncare, which, in the case of rare diseases, must be approached from multiple angles.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>What diseases are we talking about?<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">More than 8,000 such conditions have already been identified. They are most often genetic \nin nature and manifest in childhood, although symptoms sometimes do not appear until \nadulthood. Prime examples include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Cystic fibrosis (a disease of the respiratory and digestive systems)<\/li>\n\n\n\n<li>SMA (spinal muscular atrophy)<\/li>\n\n\n\n<li>Hemophilia (blood clotting disorders)<\/li>\n\n\n\n<li>Fabry disease (a metabolic disorder)<\/li>\n\n\n\n<li>Prader-Willi syndrome (muscle weakness, excessive appetite leading to obesity).<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">The key to understanding rare diseases lies in our DNA, as more than 70% of them have a \ngenetic basis. This is why the advancement of genomics - which allows for the analysis of \nthe entire human DNA sequence - is so important. Thanks to national genomic programs \nand screening tests, it is now possible to:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 earlier detection of diseases\u2014often before the first symptoms appear - avoiding years of \ngoing from doctor to doctor;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 implementation of precision therapies \u2013 \u201ctailor-made\u201d treatment that directly targets the \ncause of the disease,<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 improving patients\u2019 quality of life \u2013 halting the progression of the disease more quickly.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Poland has never conducted genomic testing on a large scale. Free newborn screening tests \ncover only 7 genetic diseases (<a href=\"https:\/\/przesiew.imid.med.pl\/badaniaprzesiewowe.html\">https:\/\/przesiew.imid.med.pl\/badaniaprzesiewowe.html<\/a>), and \npilot programs covering more diseases are not available to the entire population. The few \ngenomic projects carried out in Poland to date have been scattered and involved small \ngroups of patients. \u201cGenomics for Poland (G4PL)\u201d is the first large-scale project in which \nwhole-genome sequencing of patients with rare diseases is planned, so it has the potential \nto become a true \u201cgame-changer.\u201d<\/p>","protected":false},"excerpt":{"rendered":"<p>Dzie\u0144 Chor\u00f3b Rzadkich to wyj\u0105tkowe \u015bwi\u0119to, kt\u00f3re tradycyjnie obchodzimy w ostatnim dniu lutego. Wyb\u00f3r daty nie jest przypadkowy \u2013 w latach przest\u0119pnych przypada on 29 lutego. To najrzadszy dzie\u0144 w kalendarzu, wi\u0119c idealnie symbolizuje rzadko\u015b\u0107 schorze\u0144, z jakimi zmagaj\u0105 si\u0119 pacjenci. W tym roku to nietypowe \u015bwi\u0119to przypada 28 lutego.<\/p>","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"_jet_sm_ready_style":"","_jet_sm_style":"","_jet_sm_controls_values":"","_jet_sm_fonts_collection":"","_jet_sm_fonts_links":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-1783","post","type-post","status-publish","format-standard","hentry","category-bez-kategorii"],"_links":{"self":[{"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/posts\/1783","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/comments?post=1783"}],"version-history":[{"count":2,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/posts\/1783\/revisions"}],"predecessor-version":[{"id":1805,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/posts\/1783\/revisions\/1805"}],"wp:attachment":[{"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/media?parent=1783"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/categories?post=1783"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/tags?post=1783"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}