{"id":9274,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"https:\/\/dupmecp2.eu\/a-german-newspaper-rtl-talks-about-mecp2-duplication-syndrome\/"},"modified":"2022-11-19T20:15:12","modified_gmt":"2022-11-19T20:15:12","slug":"un-giornale-tedesco-rtl-parla-della-sindrome-da-duplicazione-di-mecp2-2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/un-giornale-tedesco-rtl-parla-della-sindrome-da-duplicazione-di-mecp2-2\/","title":{"rendered":"Un giornale tedesco (RTL) parla della sindrome da duplicazione MECP2"},"content":{"rendered":"<p>Matteo, portatore della sindrome da duplicazione MECP2, e la sua famiglia raccontano il loro percorso verso la diagnosi in un giornale tedesco (RTL).<\/p>\n\n\n\n<p>Trovate la traduzione dell'articolo qui. Tradotto dal tedesco da Caroline Covini. <\/p>\n\n\n\n<p><\/p>\n\n\n\n<p>La diagnosi giusta ha richiesto un'eternit\u00e0. <\/p>\n\n\n\n<p><strong>\"ABBIAMO RISCHIATO DI PERDERE MATTEO TRE VOLTE\": MATTEO (4 ANNI) HA UNA RARA MALATTIA GENETICA<\/strong> <\/p>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img fetchpriority=\"high\" decoding=\"async\" src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture4-1.jpg\" alt=\"\" class=\"wp-image-4640\" width=\"535\" height=\"337\" srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture4-1.jpg 449w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture4-1-300x189.jpg 300w\" sizes=\"(max-width: 535px) 100vw, 535px\" \/><figcaption class=\"wp-element-caption\">Matteo e la sua famiglia \u00a9 RTL <\/figcaption><\/figure>\n\n\n\n<p>Scritto da Julia Jaegler il 1\u00b0 giugno 2022.<\/p>\n\n\n\n<p>Il piccolo Matteo di Vienna ha solo quattro anni, ma ha gi\u00e0 visto molti ospedali e medici. \"Ha contratto tutte queste infezioni diverse e abbiamo dovuto portarlo in ospedale ogni due settimane\", racconta David C. a RTL. \"Nei primi due anni di vita, abbiamo rischiato di perdere Matteo tre volte. Gi\u00e0 all'epoca, lui e sua moglie Caroline si resero conto che qualcosa non andava nel loro bambino. Ma che cosa? <\/p>\n\n\n\n<p><strong>\"Abbiamo perso cos\u00ec tanto tempo prima di poter finalmente ottenere la diagnosi, \u00e8 stato orribile. <\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img decoding=\"async\" data-src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture1-1024x829.jpg\" alt=\"\" class=\"wp-image-4630 lazyload\" width=\"636\" height=\"515\" data-srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture1-1024x829.jpg 1024w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture1-300x243.jpg 300w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture1-768x622.jpg 768w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture1-1536x1243.jpg 1536w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture1-600x486.jpg 600w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture1.jpg 1554w\" data-sizes=\"(max-width: 636px) 100vw, 636px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 636px; --smush-placeholder-aspect-ratio: 636\/515;\" \/><figcaption class=\"wp-element-caption\">Matteo (4 anni) \u00e8 affetto da una rara malattia genetica. \u00a9 rtl.de<\/figcaption><\/figure>\n\n\n\n<p>Quando Matteo \u00e8 nato nel maggio 2018, tutto sembrava a posto. Ma i suoi genitori, entrambi scienziati e chimici dell'industria farmaceutica, si sono subito insospettiti. \u00c8 solo un po' in ritardo\" dicono i medici, visto che Matteo non avrebbe camminato prima dei 28 mesi. David e Caroline C. non si accontentano e cercano di capire da soli cosa c'\u00e8 di sbagliato in loro figlio. Il percorso da un medico all'altro \u00e8 stato lungo e difficile: \"Abbiamo perso cos\u00ec tanto tempo prima di ottenere finalmente una diagnosi, \u00e8 stato terribile\", spiega il padre per descrivere questo periodo di incertezza. <\/p>\n\n\n\n<p><strong>\"Matteo non capisce e non sente tutto. Riesce a dire solo poche parole. <\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" data-src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture2.jpg\" alt=\"\" class=\"wp-image-4632 lazyload\" width=\"604\" height=\"375\" data-srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture2.jpg 430w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture2-300x186.jpg 300w\" data-sizes=\"(max-width: 604px) 100vw, 604px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 604px; --smush-placeholder-aspect-ratio: 604\/375;\" \/><figcaption class=\"wp-element-caption\">Il piccolo Matteo a casa \u00a9 rtl.de <\/figcaption><\/figure>\n\n\n\n<p>Ma anche la diagnosi \u00e8 stata terribile: nell'agosto del 2021, tre anni e mezzo dopo la nascita di Matteo, \u00e8 arrivato il verdetto: al piccolo, che oggi ha quattro anni, \u00e8 stato diagnosticato un raro difetto genetico chiamato sindrome da duplicazione MECP2 (MDS). \"Ci sono solo circa 200 casi noti di questa malattia nel mondo, il che rende tutto ancora pi\u00f9 difficile perch\u00e9 non ci sono quasi fondi per la ricerca su queste malattie rare\", dice il padre di Matteo. Una proteina cerebrale, che controlla altre proteine, \u00e8 raddoppiata in Matteo. Questo ha un impatto sul suo sviluppo intellettuale e fisico, spiega la madre Caroline a proposito del difetto genetico del figlio: \"Matteo non capisce e non sente tutto. Riesce a dire solo poche parole. <\/p>\n\n\n\n<p><strong>I genitori hanno vissuto una vera e propria odissea <\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" data-src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture3.jpg\" alt=\"\" class=\"wp-image-4634 lazyload\" width=\"608\" height=\"439\" data-srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture3.jpg 450w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/08\/Picture3-300x217.jpg 300w\" data-sizes=\"(max-width: 608px) 100vw, 608px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 608px; --smush-placeholder-aspect-ratio: 608\/439;\" \/><figcaption class=\"wp-element-caption\">Matteo su una panchina \u00a9 rtl.de <\/figcaption><\/figure>\n\n\n\n<p>Ma la cosa peggiore per i genitori, che vivono a Vienna, \u00e8 la prognosi per il futuro del figlio: il 50% delle persone colpite ha crisi epilettiche tra i sette e i nove anni, dopodich\u00e9 le capacit\u00e0 acquisite, come camminare, spesso diminuiscono rapidamente. Solo la met\u00e0 dei bambini colpiti supera il 25\u00b0 anno di et\u00e0. <\/p>\n\n\n\n<p>\"Come scienziati, capiamo pi\u00f9 o meno quello che ci dicono i medici. Ma come si sentono gli altri genitori quando sentono tutti questi termini tecnici complicati senza spiegazioni? I genitori, entrambi scienziati in posizioni di rilievo, conoscono bene il campo medico. Tuttavia, per loro \u00e8 stata una lotta senza fine: da un medico all'altro, affrontando perplessit\u00e0 e indifferenza. <\/p>\n\n\n\n<p><strong>Ottenere un'assistenza all'infanzia \u00e8 difficile <\/strong><\/p>\n\n\n\n<p>Su Instagram, la famiglia sta cercando, tramite l'account @matteo_mds, di portare l'attenzione su questa malattia rara e di trovare altre famiglie colpite per condividere e sostenersi a vicenda. <\/p>\n\n\n\n<p>Matteo ha ottenuto uno dei pochi posti all'asilo per bambini disabili di Vienna. Pu\u00f2 stare in piedi, camminare, ridere e dire qualche parola. Non ha crisi epilettiche. E i suoi genitori sperano che ci\u00f2 duri il pi\u00f9 a lungo possibile. <\/p>","protected":false},"excerpt":{"rendered":"<p>Matteo, a carrier of the MECP2 duplication syndrome, and his family speak about their journey towards the diagnosis in a German newspaper (RTL). Find the translation of the article here. [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1534,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[89],"tags":[],"class_list":["post-9274","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medias-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>A german newspaper (RTL) talks about MECP2 duplication syndrome - DupMECP2<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dupmecp2.eu\/it\/un-giornale-tedesco-rtl-parla-della-sindrome-da-duplicazione-di-mecp2-2\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A german newspaper (RTL) talks about MECP2 duplication syndrome - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Matteo, a carrier of the MECP2 duplication syndrome, and his family speak about their journey towards the diagnosis in a German newspaper (RTL). 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