{"id":7142,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/2022\/06\/14\/la-duplication-du-gene-mecp2-apparait-dans-un-journal-allemand-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf\/"},"modified":"2022-10-25T21:42:00","modified_gmt":"2022-10-25T21:42:00","slug":"la-duplicazione-del-gene-mecp2-appare-nel-giornale-tedesco-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/la-duplicazione-del-gene-mecp2-appare-nel-giornale-tedesco-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf\/","title":{"rendered":"L'aggiornamento del MECP2 \u00e8 stato inserito nella RTL-Zeitung."},"content":{"rendered":"<p class=\"wp-block-paragraph\">Matteo con MECP2-Genduplikation e la sua famiglia raccontano in un giornale tedesco il loro percorso verso la diagnosi (RTL).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Diagnosi errata dauerte Ewigkeiten <\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\"DREIMAL H\u00c4ATTEN WIR IHN FAST VERLOREN\": MATTEO (4) HAT EINEN SELTENEN GENDEFEKT<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">di Julia Jaegler <\/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>Matteo e la sua famiglia \u00a9 RTL <\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">1. Giugno 2022 <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Il piccolo Matteo di Vienna ha solo dieci anni, ma \u00e8 gi\u00e0 stato visitato da molti pazienti e medici. \"Er hat einfach jede Infektion bekommen und alle zwei Wochen mussten wir mit ihm in die Klinik\", erz\u00e4hlt sein Vater David C. gegen\u00fcber RTL. Nei suoi primi due anni di vita abbiamo avuto Matteo in fretta e furia\". All'inizio dell'anno, lui e sua moglie Caroline erano preoccupati che qualcosa non andasse bene con il loro bambino. Nur was? <\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\"Abbiamo avuto cos\u00ec tanto tempo a disposizione, che abbiamo avuto una diagnosi, che \u00e8 stata molto difficile da ottenere\". <\/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>Matteo (4) ha un bel regalo \u00a9 rtl.de<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Als Matteo im Mai 2018 geborende, schien zun\u00e4chst alles in Ordnung. Ma le sue madri, entrambe scienziate, chimiche e specializzate in medicina, hanno gi\u00e0 da tempo un dolore comune: \"Er ist halt einfach sp\u00e4ter dran\", affermano gli assessori, dato che Matteo \u00e8 nato da soli 28 mesi. David e Caroline C. non si sentono affatto soddisfatti e cercano di capire, da soli, cosa c'\u00e8 di strano in questo figlio. Un lungo viaggio da un chirurgo all'altro: \"Abbiamo perso cos\u00ec tanto tempo che quando finalmente abbiamo avuto una diagnosi era troppo tardi\", racconta il padre di questo periodo di grande infelicit\u00e0. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\"Matteo versteht und sp\u00fcrt nicht alles, kann nur wenige Worte sprechen\". <\/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>Kleiner Matteo zu Hause \u00a9 rtl.de <\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Ma anche la diagnosi \u00e8 difficile da ottenere: nell'agosto del 2021, a tre anni dalla nascita di Matteo, il giovane ha un problema che si chiama MECP2 Duplikation Syndrom (MDS). \"In tutto il mondo sono note solo circa 200 forme di malattia, il che rende il tutto ancora pi\u00f9 difficile, perch\u00e9 la ricerca su malattie cos\u00ec gravi non pu\u00f2 essere finanziata\", ha dichiarato Matteos Vater. Una proteina nel cervello, che controlla un'altra proteina, viene utilizzata da Matteo in modo diverso. Questo si ripercuote sia sul suo sviluppo fisico che su quello mentale, spiega la mamma Caroline a proposito del suo figlio: \"Matteo non capisce e non parla di tutto, pu\u00f2 solo dire poche parole\". <\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Gli antenati hanno Odyssee dietro di s\u00e9 <\/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>Matteo in banca\u00a9 rtl.de <\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Il problema principale per le madri che vivono a Vienna, tuttavia, \u00e8 la prognosi: il 50% dei loro figli soffre di crisi epilettiche tra i diciassette e i nove anni di et\u00e0. Solo circa la met\u00e0 dei proprietari di casa festeggia il 25\u00b0 compleanno. Geburtstag. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\"Come scienziati capiamo sempre di pi\u00f9 quello che dicono gli insegnanti. Ma come possono fare gli altri, se tutti i testi di base non sono stati scritti su di loro?\". I genitori, entrambi chimici in posizione dominante, lavorano nel campo della medicina. Ma hanno anche un'Odissea alle spalle: da medico a medico, dalla dipendenza all'interesse. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Kinderbetreuung pi\u00f9 difficile da ottenere <\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Con Instagram la famiglia ha cercato di far s\u00ec che l'account @matteo_mds si occupasse di questa grave malattia e di trovare anche altre madri adottive che potessero aiutarla e aiutarla. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Matteo ha uno dei pi\u00f9 bei posti all'asilo per bambini con un basso livello di istruzione a Vienna. Pu\u00f2 stare in piedi, correre, parlare e parlare un po'. Non ha ancora nessuna malattia epilettica. E i suoi genitori sperano che non sia cos\u00ec a lungo. <\/p>","protected":false},"excerpt":{"rendered":"<p>Matteo mit MECP2-Genduplikation und seine Familie berichten in einer deutschen Zeitung \u00fcber ihren Weg zur Diagnose (RTL). Korrekte Diagnose dauerte Ewigkeiten \u00ab\u00a0DREIMAL H\u00c4ATTEN WIR IHN FAST VERLOREN\u00a0\u00bb: MATTEO (4) HAT [&hellip;]<\/p>","protected":false},"author":1,"featured_media":6690,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[56],"tags":[],"class_list":["post-7142","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medien"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>MECP2-Genduplikation taucht in der RTL-Zeitung auf - 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\/la-duplicazione-del-gene-mecp2-appare-nel-giornale-tedesco-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MECP2-Genduplikation taucht in der RTL-Zeitung auf - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Matteo mit MECP2-Genduplikation und seine Familie berichten in einer deutschen Zeitung \u00fcber ihren Weg zur Diagnose (RTL). Korrekte Diagnose dauerte Ewigkeiten \u00ab\u00a0DREIMAL H\u00c4ATTEN WIR IHN FAST VERLOREN\u00a0\u00bb: MATTEO (4) HAT [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dupmecp2.eu\/it\/la-duplicazione-del-gene-mecp2-appare-nel-giornale-tedesco-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf\/?lang=de\" \/>\n<meta property=\"og:site_name\" content=\"DupMECP2\" \/>\n<meta property=\"article:published_time\" content=\"2022-06-14T20:42:45+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-10-25T21:42:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/06\/Screen-Shot-2022-06-12-at-12.49.57-PM.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"665\" \/>\n\t<meta property=\"og:image:height\" content=\"860\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Caroline\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Scritto da\" \/>\n\t<meta name=\"twitter:data1\" content=\"Caroline\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tempo di lettura stimato\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minuti\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/dupmecp2.eu\/la-duplication-du-gene-mecp2-apparait-dans-un-journal-allemand-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf\/?lang=de#article\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/la-duplication-du-gene-mecp2-apparait-dans-un-journal-allemand-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf\/?lang=de\"},\"author\":{\"name\":\"Caroline\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/person\/b41e8cbba153cd974ee340386af279ee\"},\"headline\":\"MECP2-Genduplikation taucht in der RTL-Zeitung auf\",\"datePublished\":\"2022-06-14T20:42:45+00:00\",\"dateModified\":\"2022-10-25T21:42:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/la-duplication-du-gene-mecp2-apparait-dans-un-journal-allemand-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf\/?lang=de\"},\"wordCount\":571,\"publisher\":{\"@id\":\"https:\/\/dupmecp2.eu\/#organization\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/la-duplication-du-gene-mecp2-apparait-dans-un-journal-allemand-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf\/?lang=de#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/06\/Screen-Shot-2022-06-12-at-12.49.57-PM.jpg\",\"articleSection\":[\"Medien\"],\"inLanguage\":\"it-IT\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/dupmecp2.eu\/la-duplication-du-gene-mecp2-apparait-dans-un-journal-allemand-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf\/?lang=de\",\"url\":\"https:\/\/dupmecp2.eu\/la-duplication-du-gene-mecp2-apparait-dans-un-journal-allemand-rtlmecp2-genduplikation-taucht-in-der-rtl-zeitung-auf\/?lang=de\",\"name\":\"MECP2-Genduplikation taucht in der RTL-Zeitung auf - 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