The 17th Rare Disease Day on 29 February

(Il Sole 24 Ore Radiocor) - The 17thWorld Day of Rare Diseases will be celebrated on 29 February. The day, launched for the first time in 2008, usually falls on the last day of February and in leap years, such as 2024, it is celebrated on the 29th. To mark the occasion, Regione Lombardia organised a conference on 27 February that became an opportunity to address, in a global and shared manner, the complex issue of taking care of people suffering from a rare disease, also in relation to the issue of the diagnostic pathway. The event aimed to raise awareness and generate change for people living with a rare disease, their families and carers. The conference - aimed at NHS professionals at different levels, researchers, association representatives and all stakeholders involved in the field of rare diseases - illustrated the issue of rare diseases at a regional level to raise awareness of the work of the network operating in Lombardy.

The event, organised at the Testori Auditorium of Palazzo Lombardia, was attended by Alessandro Amorosi, U.O. Polo Ospedaliero, Direzione Generale Welfare, Regione Lombardia, Federica Falcone, U.O. Polo Ospedaliero, General Directorate for Welfare, Lombardy Region, Erica Daina, Mario Negri Institute IRCCS Regional Network Coordination Centre for Rare Diseases, Tommasina Iorno, Italian Federation of Rare Diseases UNIAMO FIMR Onlus, Marco Sessa, U.O. Polo Ospedaliero, General Directorate for Welfare, Lombardy Region, Laura Obici, IRCSS Policlinico S. Matteo Foundation, Pavia, Fulvia Massimmo, IRCSS Policlinico S. Matteo Foundation, Fulvia Obici, IRCSS Policlinico S. Matteo Foundation, and Marco Sessa, U.O. Polo Ospedaliero, General Directorate for Welfare, Lombardy Region. Matteo Pavia, Fulvia Massimelli, President Associazione Italiana Sclerosi Laterale Amiotrofica AISLA Onlus, Flora Peyvandi, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Ilaria Galetti, ePAGERN ReCONNET vice-President GILS ODV ETS, Angelo Selicorni, Ospedale S. Anna, S. Fermo della Battaglia, Anna Tomelleri-Associazione Immunodeficienze Primitive, AIPODV, Sara Gamba, Centro di Coordinamento Rete Regionale Malattie Rare, Istituto Mario Negri IRCCS, Silvia Colombini, Soprano d'arti, Giliane Nanchen, Istituto di Ricerche Farmacologiche Mario Negri IRCCS.

In the Lombardy Region, according to data available as of 2021, there are just over 91,000 prevalent cases (46.02% males and 53.98% females), with an incidence of less than 1% of the entire regional population and with 13% being under 18 years of age. Uniamo, the Italian Federation of Rare Diseases, the representative body of the community of people with rare diseases, operates in Italy. Active for 25 years for the protection and defence of the rights of people with rare diseases and their families, it has over 200 affiliated associations. In the Lombardy Region, Uniamo supports the DG Welfare for operational coordination activities and the sharing of common strategies on rare diseases within the Rare Disease Network. This network in the Lombardy territory consists of 60 Centres, according to the last update of 24 July 2023 (the next one is scheduled for 31 March 2024). In addition, there is a Regional Coordination Centre: the Aldo and Cele Daccò Clinical Research Centre for Rare Diseases of the Mario Negri IRCCS Pharmacological Research Institute, based in Ranica (BG).

As at 31 December 2023 the Diagnostic Therapeutic Treatment Pathways (PDTA) active in Lombardy totalled 129 (of which 1 PDTA dedicated to a non-exempt rare disease) and are periodically updated through an activity coordinated by the Regional Coordination Centre for Rare Diseases, which is carried out in collaboration with the specialists of the network Chairs. In particular, during the year 2023, 7 newly drafted PDTAs were approved, while 8 PDTAs underwent substantial updates and revisions with respect to the previously published original version. A total of 24 new PDTAs are still being drafted and 27 existing PDTAs are being revised. More than 800 specialists and 90 patient associations, as well as federations, have been involved in the drafting/updating of PDTAs since 2017.