XIV GIORNATA INTERNAZIONALE DELLE MALATTIE RARE

La Giornata mondiale delle Malattie Rare, che giungerà il prossimo 28 febbraio 2021 alla sua XIV edizione, promuove in tutto il mondo l’equità come accesso a pari opportunità che possano valorizzare il potenziale delle persone con malattie rare.
Durante la pandemia da SarsCov2 la comunità delle persone affette da malattie rare ha subito le conseguenze più gravi, in quanto comunità fragile: interruzioni delle visite di controllo e della somministrazione di terapie presso ospedali e centri di riferimento anche salvavita, aggravamento delle criticità legate all’inclusione lavorativa e scolastica, incremento dell’isolamento sociale.
Nonostante ciò e sebbene riguardino oltre 1 milione di famiglie in Italia, 30 milioni in Europa e 300 milioni nel mondo, le malattie rare restano malattie sconosciute ai più e spesso anche alla comunità scientifica, come nel caso delle ultrarare e delle orfane di diagnosi. Per questo motivo oggi più che mai è necessario portare l’attenzione di tutti su queste malattie affinché nessuno sia lasciato indietro, né
dalla ricerca scientifica né dalle tutele sociali.
Con questo obiettivo, è stata lanciata la campagna di sensibilizzazione “ACCENDIAMO LE LUCI SULLE MALATTIE RARE”, promossa da Uniamo – Federazione Italiana Malattie Rare, coordinatore nazionale della Giornata. L’iniziativa sarà ripresa dalla stampa locale e nazionale oltre che sui social ufficiali della Federazione.
In Sicilia Aismac ha promosso l’illuminazione dei seguenti monumenti: Palermo, Palazzo dei Normanni grazie alla Regione Sicilia), Palermo, Teatro Massimo (grazie al Comune di Palermo), Catania, Balcone principale del Palazzo degli elefanti (grazie al Comune di Catania), Monreale, Casa Comunale (grazie al
Comune di Monreale), Castelbuono, Fontana di Piazza Margherita (grazie al Comune di Cstelbuono), Isnello, Ruderi del Castello (grazie al Comune di Isnello), Bagheria, Palazzo Butera (grazie al Comune di Bagheria), Messina, Duomo (in attesa di conferma).
La GIORNATA DELLE MALATTIE RARE è l’appuntamento più importante per i malati rari di tutto il mondo, per i loro familiari, per gli operatori sanitari e sociali.
Nel 1999 le malattie rare sono state inserite nella normativa comunitaria. EURORDIS (Europea Organization for Rare Diseases), l’organizzazione europea di pazienti con patologie rare ha svolto un ruolo cruciale verso i massimi organismi politici comunitari perché le malattie rare venissero inserite nelle normative europee. Un risultato storico, ma non ancora sufficiente. Rimaneva il rischio che
rimanessero nascoste tra gli articoli di legge. «Si trattava, quindi, di chiudere un cerchio, di trovare una giusta idea perché quella piccola speranza data dall’inserimento delle malattie rare nell’agenda politica non si esaurisse subito nel nulla. – Come spiegava Simona Bellagambi, referente di Uniamo nel Consiglio
delle alleanze di EURORDIS – Era necessario creare un movimento di pazienti, familiari e comuni cittadini che puntasse a riunire tutti gli sforzi verso l’obiettivo delle malattie rare e si riconoscesse in questo movimento grazie ad un logo identificativo comune e ad un motto. Nasce così la Giornata delle Malattie rare che si commemora l’ultimo giorno del mese di febbraio di ogni anno».
Le malattie rare sono una priorità di sanità pubblica e la Giornata delle Malattie Rare è l’occasione per condividere tutti insieme, persone affette da una malattia rara, familiari, operatori sanitari, istituzioni e cittadinanza.
La conoscenza e l’informazione sono fondamentali. Dedicare una giornata aiuta a parlarne, a diffondere informazioni, ad approfondire e ad ascoltare chi è coinvolto per capirne i bisogni e a pensare alle possibili soluzioni nella ricerca, nell’accesso alle cure e nell’assistenza.
La giornata delle malattie rare si rivolge a tutti i politici nazionali e internazionali, alle autorità europee e nazionali della sanità, ai ricercatori, operatori sanitari, operatori sociali, accademici, industrie del farmaco e a quanti non conoscono le malattie rare o non hanno informazioni.
La giornata delle malattie rare è di tutti e per tutti, e i risultati sono utili per la soluzione di molti problemi sociali, sanitari, economici ed etici che vanno oltre i confini delle malattie rare.
EURORDIS seleziona il tema della giornata e coordina la comunicazione comune dei vari Paesi attraverso sito web: www.rarediseaseday.org, ogni paese sviluppa le attività nazionali.
Uniamo Federazione Italiana Malattie Rare onlus promuove e coordina in Italia tutti gli eventi organizzati nell’ambito della Giornata delle Malattie Rare.
Per ulteriori informazioni: www.rarediseaseday.org – www.eurordis.org
LA FEDERAZIONE ITALIANA MALATTIE RARE UNIAMO, con oltre 130 Associazioni federate, è l’ente di rappresentanza istituzionale della comunità delle persone con malattie rare in Italia: porta il punto di vista dei pazienti, di familiari e caregiver in consessi istituzionali quali il tavolo di aggiornamento del
Piano Nazionale Malattie Rare ed il Tavolo per l’ampliamento del panel SNE (Ministero della Salute), il centro di coordinamento dei comitati etici (AIFA), il Centro di coordinamento sugli Screening neonatali
(ISS), alcuni Coordinamenti regionali per le malattie rare, il Gruppo di lavoro per “Covid19 e malattie rare dell’Istituto Superiore di Sanità ed il GdL per il “Trasferimento delle tecniche omiche nella pratica clinica” del Consiglio Superiore di Sanità. Ha di recente siglato un protocollo di intesa per la
collaborazione su più fronti (ricerca, formazione, medicina narrativa,..) con l’Istituto Superiore di Sanità.
Per ulteriori informazioni: www.uniamo.org AISMAC ONLUS – ASSOCIAZIONE ITALIANA SIRINGOMIELIA E ARNOLD CHIARI è la prima Associazione
Italiana delle persone affette da Malformazione di Chiari 1, Siringomielia e patologie correlate; si tratta di patologie neurologiche croniche e invalidanti, considerate rare ma molto più comuni di quanto non si ritenesse fino a pochi anni fa, quando la risonanza magnetica non aveva la diffusione attuale.
Nonostante il crescente numero di casi, le patologie sono tuttora poco conosciute dai medici: spesso la diagnosi giusta arriva dopo anni dall’insorgenza dei sintomi, e molti pazienti sono addirittura presi per depressi o malati immaginari.
Le patologie non prevedono terapie farmacologiche ma solo farmaci sintomatici. L’unico trattamento
previsto per i pazienti con sintomi importanti è quello chirurgico, non sempre risolutivo.
Da sempre Aismac si impegna a:
• dare sostegno e informazioni ai pazienti e ai loro familiari;
• raccogliere e diffondere informazioni sulle patologie, sulle terapie, sui centri di cura, sulle
normative;
• sostenere progetti clinici e di ricerca;
• sensibilizzare le istituzioni e l’opinione pubblica sulle problematiche e le esigenze dei pazienti.
IN SICILIA Aismac conta su tre referenti regionali e segue circa 350 pazienti. Il lavoro dell’associazione è
stato sempre condotto in stretta collaborazione con il Coordinamento regionale delle malattie rare e la
Rete siciliana delle associazioni di malattie rare, di cui Aismac fa parte fin dalla sua costituzione.
Numerosi gli incontri organizzati nel corso degli anni fra l’associazione e i medici e fra medici e pazienti e
i numerosi eventi organizzati in occasione della Giornata delle malattie rare.
Per ulteriori informazioni: www.aismac.org
Annalisa Dal Verme, Segreteria Nazionale Aismac: aismac.segreteria@gmail.com – 328.1346795
Silvia Cascio, Referente Regionale Aismac Sicilia-Palermo: silvye86@hotmail.it – 320.6110909
Francescapaola Pulvirenti, Referente Regionale Aismac Sicilia-Catania: aismac.catania@gmail.com –
345.7751499

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