{"id":15083,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"https:\/\/dupmecp2.eu\/un-periodico-aleman-rtl-habla-del-sindrome-de-duplicacion-mecp2\/"},"modified":"2023-02-19T19:45:00","modified_gmt":"2023-02-19T19:45:00","slug":"un-periodico-alemanno-rtl-parla-della-sindrome-di-duplicazione-mecp2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/un-periodico-alemanno-rtl-parla-della-sindrome-di-duplicazione-mecp2\/","title":{"rendered":"Un giornale olandese (RTL) parla della sindrome da duplicazione MeCP2"},"content":{"rendered":"<p>Matteo, portatore della sindrome da duplicazione MECP2, e la sua famiglia raccontano il loro viaggio verso la diagnosi in un giornale olandese (RTL).<\/p>\n\n<p>Qui trovate la traduzione dell'articolo. Tradotto dal tedesco da Karyn Lebescont. <\/p>\n\n<p><\/p>\n\n<p>La diagnosi corretta ha tardato un'eternit\u00e0. <\/p>\n\n<p><strong>\"CASI PERDEMOS A MATTEO TRES VECES\": MATTEO (4 ANNI) HA UNA RARA MALATTIA GENETICA<\/strong> <\/p>\n\n<p>Scritto da Julia Jaegler il 1 giugno 2022 <\/p>\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<p>Il piccolo Matteo, di Vienna, ha solo dieci anni, ma \u00e8 gi\u00e0 passato per molti ospedali e medici. \"El Contrajo todas estas infecciones y tuvimos que llevarlo al hospital cada dos semanas\", commenta David C. a RTL. \"Nei suoi primi anni di vita, abbiamo perso Matteo tre volte\". A quel punto, lui e sua moglie Caroline si sono resi conto che qualcosa non andava nel loro figlio. \u00bfPero qu\u00e9? <\/p>\n\n<p><strong>\"Perdemmo tanto tempo fino a quando, alla fine, potemmo ottenere la diagnosi, fu orribile\". <\/strong><\/p>\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) ha una rara malattia genetica \u00a9 rtl.de<\/figcaption><\/figure>\n\n<p>Quando Matteo nacque nel maggio del 2018, tutto sembrava andare bene, ma i suoi padri, entrambi scienziati e chimici dell'industria farmaceutica, non tardarono a dirlo. \"Solo se ha ritardato un po'\", dicono i medici, perch\u00e9 Matteo non ha camminato fino a 28 mesi. David e Caroline C. non pensano di essere vendicativi e vogliono scoprire da soli cosa \u00e8 successo al loro figlio. \u00c8 stato un percorso lungo e difficile di medico in medico: \"Abbiamo perso molto tempo prima che ci dessero una diagnosi, \u00e8 stato terribile\", spiega il padre per descrivere questo periodo di incertezza. <\/p>\n\n<p><strong>\"Matteo no lo entiende y no lo siente todo. Pu\u00f2 solo dire un paio di parole\". <\/strong><\/p>\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 in casa \u00a9 rtl.de <\/figcaption><\/figure>\n\n<p>Ma la diagnosi \u00e8 stata altrettanto terribile: nell'agosto del 2021, tre anni e mezzo dopo la nascita di Matteo, \u00e8 arrivato il verdetto: al piccolo, che ora ha quattro anni, \u00e8 stato diagnosticato un grave difetto genetico chiamato sindrome da duplicazione MECP2 (MDS). \"Si conoscono solo circa 200 casi di questa malattia nel mondo, il che \u00e8 ancora pi\u00f9 difficile perch\u00e9 non si destina molto denaro alla ricerca di malattie cos\u00ec rare\", dice il padre di Matteo. Una proteina cerebrale, che controlla altre proteine, \u00e8 duplicata 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 comprende tutto. Riesce a dire solo poche parole\". <\/p>\n\n<p><strong>I padri vivevano un'autentica odisea <\/strong><\/p>\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 in un banco \u00a9 rtl.de <\/figcaption><\/figure>\n\n<p>Tuttavia, la cosa peggiore per i loro padri, che vivono a Vienna, \u00e8 la prognosi per il futuro del figlio: i bambini affetti da 50% sperimentano attacchi epilettici tra il settimo e il nono compleanno; in seguito, le capacit\u00e0 acquisite, come camminare, tendono a deteriorarsi rapidamente. Solo la met\u00e0 dei bambini colpiti ha pi\u00f9 di 25 anni. <\/p>\n\n<p>\"Come scienziati, abbiamo una buona comprensione di ci\u00f2 che ci dicono i medici. Ma come si sentono gli altri genitori quando sentono tutti questi termini tecnici complicati senza spiegazioni? I padri, entrambi scienziati con ruoli di responsabilit\u00e0, hanno familiarit\u00e0 con il campo della medicina. Tuttavia, per loro \u00e8 stata una battaglia senza fine: di medico in medico, affrontando perplessit\u00e0 e indifferenza. <\/p>\n\n<p><strong>Ottenere la guardia \u00e8 un reto <\/strong><\/p>\n\n<p>Su Instagram, la famiglia intende, tramite il sito @matteo_mds, richiamare l'attenzione su questa rara malattia e trovare altre famiglie colpite per condividerla e aiutarla reciprocamente. <\/p>\n\n<p>Matteo ha ottenuto uno dei pochi posti in guardiola per bambini disabili di Vienna. Pu\u00f2 mettersi a sedere, andar via, ridere e dire qualche parola, non ha problemi epilettici e i suoi genitori sperano che duri il maggior tempo possibile. <\/p>","protected":false},"excerpt":{"rendered":"<p>Matteo, portador del s\u00edndrome de duplicaci\u00f3n MECP2 y su familia hablan de su viaje hacia el diagn\u00f3stico en un peri\u00f3dico alem\u00e1n (RTL). Aqu\u00ed encontrar\u00e1 la traducci\u00f3n del art\u00edculo. Traducido del [&hellip;]<\/p>","protected":false},"author":1,"featured_media":12836,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[115],"tags":[],"class_list":["post-15083","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medios"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Un peri\u00f3dico alem\u00e1n (RTL) habla del s\u00edndrome de duplicaci\u00f3n MeCP2 - 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-periodico-alemanno-rtl-parla-della-sindrome-di-duplicazione-mecp2\/?lang=es\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Un peri\u00f3dico alem\u00e1n (RTL) habla del s\u00edndrome de duplicaci\u00f3n MeCP2 - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Matteo, portador del s\u00edndrome de duplicaci\u00f3n MECP2 y su familia hablan de su viaje hacia el diagn\u00f3stico en un peri\u00f3dico alem\u00e1n (RTL). Aqu\u00ed encontrar\u00e1 la traducci\u00f3n del art\u00edculo. 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Aqu\u00ed encontrar\u00e1 la traducci\u00f3n del art\u00edculo. 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