{"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":"%ce%bf-%ce%b4%ce%b9%cf%80%ce%bb%ce%b1%cf%83%ce%b9%ce%b1%cf%83%ce%bc%cf%8c%cf%82-%cf%84%ce%bf%cf%85-%ce%b3%ce%bf%ce%bd%ce%b9%ce%b4%ce%af%ce%bf%cf%85-mecp2-%ce%b5%ce%bc%cf%86%ce%b1%ce%bd%ce%af%ce%b6","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/el\/%ce%bf-%ce%b4%ce%b9%cf%80%ce%bb%ce%b1%cf%83%ce%b9%ce%b1%cf%83%ce%bc%cf%8c%cf%82-%cf%84%ce%bf%cf%85-%ce%b3%ce%bf%ce%bd%ce%b9%ce%b4%ce%af%ce%bf%cf%85-mecp2-%ce%b5%ce%bc%cf%86%ce%b1%ce%bd%ce%af%ce%b6\/","title":{"rendered":"MECP2-Genduplikation taucht in der RTL-Zeitung auf"},"content":{"rendered":"

Matteo mit MECP2-Genduplikation und seine Familie berichten in einer deutschen Zeitung \u00fcber ihren Weg zur Diagnose (RTL).<\/p>\n\n\n\n

Korrekte Diagnose dauerte Ewigkeiten <\/strong><\/p>\n\n\n\n

\"DREIMAL H\u00c4ATTEN WIR IHN FAST VERLOREN\": MATTEO (4) HAT EINEN SELTENEN GENDEFEKT<\/strong><\/p>\n\n\n\n

\u03b1\u03c0\u03cc Julia Jaegler <\/p>\n\n\n\n

\"\"
Matteo und seiner Familie \u00a9 RTL <\/figcaption><\/figure>\n\n\n\n

1. \u0399\u03bf\u03cd\u03bd\u03b9\u03bf\u03c2 2022 <\/p>\n\n\n\n

Der kleine Matteo aus Wien ist erst vier Jahre alt, aber Krankenh\u00e4user und \u00c4rzte hat er schon viele gesehen. \"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. In seinen ersten zwei Lebensjahren h\u00e4tten wir Matteo dreimal fast verloren\". \u03a3\u03c4\u03b9\u03c2 \u03b1\u03c1\u03c7\u03ad\u03c2 \u03c4\u03bf\u03c5 \u03ad\u03c4\u03bf\u03c5\u03c2, \u03bf \u03af\u03b4\u03b9\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03b7 \u03c3\u03cd\u03b6\u03c5\u03b3\u03cc\u03c2 \u03c4\u03bf\u03c5 Caroline \u03b1\u03bd\u03b7\u03c3\u03c5\u03c7\u03bf\u03cd\u03c3\u03b1\u03bd \u03cc\u03c4\u03b9 \u03ba\u03ac\u03c4\u03b9 \u03b4\u03b5\u03bd \u03c0\u03ae\u03b3\u03b1\u03b9\u03bd\u03b5 \u03ba\u03b1\u03bb\u03ac \u03bc\u03b5 \u03c4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03c4\u03bf\u03c5\u03c2. Nur was? <\/p>\n\n\n\n

\"Wir haben so viel Zeit verloren, bis wir endlich eine Diagnose hatten, das war furchtbar\" <\/strong><\/p>\n\n\n\n

\"\"
\u039f Matteo (4) \u03ad\u03c7\u03b5\u03b9 \u03ad\u03bd\u03b1 \u03c3\u03c0\u03ac\u03bd\u03b9\u03bf Gendefekt \u00a9 rtl.de<\/figcaption><\/figure>\n\n\n\n

Als Matteo im Mai 2018 geboren wurde, schien zun\u00e4chst alles in Ordnung. Aber seine Eltern, beide Wissenschaftler, Chemiker, im medizinischen Bereich, haben schon bald ein komisches Gef\u00fchl. \"Er ist halt einfach sp\u00e4ter dran\", sagen die \u00c4rzte, als Matteo erst mit 28 Monate l\u00e4uft. David und Caroline C. geben sich damit nicht zufrieden und versuchen, selbst herauszufinden, was mit ihrem Sohn los ist. \u0388\u03bd\u03b1 \u03bc\u03b1\u03ba\u03c1\u03cd \u03c4\u03b1\u03be\u03af\u03b4\u03b9 \u03b1\u03c0\u03cc \u03c7\u03b5\u03b9\u03c1\u03bf\u03c5\u03c1\u03b3\u03cc \u03c3\u03b5 \u03c7\u03b5\u03b9\u03c1\u03bf\u03c5\u03c1\u03b3\u03cc: \"\u0395\u03af\u03c7\u03b1\u03bc\u03b5 \u03c7\u03ac\u03c3\u03b5\u03b9 \u03c4\u03cc\u03c3\u03bf \u03c0\u03bf\u03bb\u03cd \u03c7\u03c1\u03cc\u03bd\u03bf, \u03c0\u03bf\u03c5 \u03cc\u03c4\u03b1\u03bd \u03b5\u03c0\u03b9\u03c4\u03ad\u03bb\u03bf\u03c5\u03c2 \u03b5\u03af\u03c7\u03b1\u03bc\u03b5 \u03bc\u03b9\u03b1 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7, \u03ae\u03c4\u03b1\u03bd \u03c0\u03bf\u03bb\u03cd \u03b1\u03c1\u03b3\u03ac\", \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03b5\u03b9 \u03bf \u03c0\u03b1\u03c4\u03ad\u03c1\u03b1\u03c2 \u03c4\u03bf\u03c5\u03c2 \u03b3\u03b9\u03b1 \u03b1\u03c5\u03c4\u03ae \u03c4\u03b7\u03bd \u03c0\u03b5\u03c1\u03af\u03bf\u03b4\u03bf \u03bc\u03b5\u03b3\u03ac\u03bb\u03b7\u03c2 \u03b4\u03c5\u03c3\u03c4\u03c5\u03c7\u03af\u03b1\u03c2. <\/p>\n\n\n\n

\"\u039f Matteo versteht und sp\u00fcrt nicht alles, kann nur wenige Worte sprechen\". <\/strong><\/p>\n\n\n\n

\"\"
Kleiner Matteo zu Hause \u00a9 rtl.de <\/figcaption><\/figure>\n\n\n\n

Doch auch die Diagnose ist furchtbar: Im August 2021, dreieinhalb Jahre nach Matteos Geburt, steht fest: Der heute Vierj\u00e4hrige leidet an einem seltenen Gendefekt namens MECP2 Duplikation Syndrom (MDS). \"Weltweit sind nur etwa 200 F\u00e4lle der Erkrankung bekannt, das macht es umso schwieriger, denn f\u00fcr die Forschung zu so seltenen Krankheiten gibt es kaum Geld\", told Matteos Vater. Ein Protein im Gehirn, das andere Proteine kontrolliert, kommt bei Matteo doppelt vor. Das wirkt sich sowohl auf seine geistige als auch auf seine physische Entwicklung aus, erkl\u00e4rt seine Mama Caroline den Gendefekt ihres Sohnes: \"Matteo versteht und sp\u00fcrt nicht alles, kann nur wenige Worte sprechen\". <\/p>\n\n\n\n

Eltern haben Odyssee hinter sich <\/strong><\/p>\n\n\n\n

\"\"
Matteo auf einer Bank\u00a9 rtl.de <\/figcaption><\/figure>\n\n\n\n

\u03a4\u03bf \u03ba\u03cd\u03c1\u03b9\u03bf \u03c0\u03c1\u03cc\u03b2\u03bb\u03b7\u03bc\u03b1 \u03b3\u03b9\u03b1 \u03c4\u03b9\u03c2 \u03bc\u03b7\u03c4\u03ad\u03c1\u03b5\u03c2 \u03c0\u03bf\u03c5 \u03b6\u03bf\u03c5\u03bd \u03c3\u03c4\u03b7 \u0392\u03b9\u03ad\u03bd\u03bd\u03b7, \u03c9\u03c3\u03c4\u03cc\u03c3\u03bf, \u03b5\u03af\u03bd\u03b1\u03b9 \u03b7 \u03c0\u03c1\u03cc\u03b3\u03bd\u03c9\u03c3\u03b7: \u03c4\u03bf 50% \u03c4\u03c9\u03bd \u03c0\u03b1\u03b9\u03b4\u03b9\u03ce\u03bd \u03c4\u03bf\u03c5\u03c2 \u03c5\u03c0\u03bf\u03c6\u03ad\u03c1\u03bf\u03c5\u03bd \u03b1\u03c0\u03cc \u03b5\u03c0\u03b9\u03bb\u03b7\u03c0\u03c4\u03b9\u03ba\u03ad\u03c2 \u03ba\u03c1\u03af\u03c3\u03b5\u03b9\u03c2 \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03b4\u03b5\u03ba\u03b1\u03b5\u03c0\u03c4\u03ac \u03ba\u03b1\u03b9 \u03b5\u03bd\u03bd\u03ad\u03b1 \u03b5\u03c4\u03ce\u03bd, \u03bc\u03b5 \u03b1\u03c0\u03bf\u03c4\u03ad\u03bb\u03b5\u03c3\u03bc\u03b1 \u03bd\u03b1 \u03b1\u03bd\u03b1\u03c0\u03c4\u03cd\u03c3\u03c3\u03bf\u03c5\u03bd \u03c4\u03b9\u03c2 \u03b4\u03b5\u03be\u03b9\u03cc\u03c4\u03b7\u03c4\u03b5\u03c2 \u03c0\u03bf\u03c5 \u03ad\u03c7\u03bf\u03c5\u03bd \u03b1\u03bd\u03b1\u03c0\u03c4\u03cd\u03be\u03b5\u03b9, \u03cc\u03c0\u03c9\u03c2 \u03b7 \u03b2\u03b1\u03c5\u03ba\u03b1\u03bb\u03b9\u03c3\u03bc\u03cc\u03c2, \u03c0\u03bf\u03c5 \u03c3\u03c5\u03c7\u03bd\u03ac \u03b5\u03af\u03bd\u03b1\u03b9 \u03c0\u03bf\u03bb\u03cd \u03b4\u03cd\u03c3\u03ba\u03bf\u03bb\u03bf \u03bd\u03b1 \u03b5\u03c0\u03b9\u03c4\u03b5\u03c5\u03c7\u03b8\u03b5\u03af. \u039c\u03cc\u03bd\u03bf \u03bf\u03b9 \u03bc\u03b9\u03c3\u03bf\u03af \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 \u03b1\u03c0\u03cc \u03cc\u03bb\u03bf\u03c5\u03c2 \u03c4\u03bf\u03c5\u03c2 \u03b9\u03b4\u03b9\u03bf\u03ba\u03c4\u03ae\u03c4\u03b5\u03c2 \u03c3\u03c0\u03b9\u03c4\u03b9\u03bf\u03cd \u03b3\u03b9\u03bf\u03c1\u03c4\u03ac\u03b6\u03bf\u03c5\u03bd \u03c4\u03b1 25\u03b1 \u03b3\u03b5\u03bd\u03ad\u03b8\u03bb\u03b9\u03ac \u03c4\u03bf\u03c5\u03c2. Geburtstag. <\/p>\n\n\n\n

\"Als Wissenschaftler verstehen wir einigerma\u00dfen, was die \u00c4rzte uns sagen. Aber wie muss es anderen gehen, wenn all die komplizierten Fachausdr\u00fccke un\u00fcbersetzt auf sie einprasseln?\" Die Eltern, \u03ba\u03b1\u03b9 \u03bf\u03b9 \u03b4\u03cd\u03bf Chemiker in leitenden Positionen, kennen sich aus im medizinischen Bereich. \u0388\u03c7\u03bf\u03c5\u03bd \u03cc\u03bc\u03c9\u03c2 \u03c0\u03af\u03c3\u03c9 \u03c4\u03bf\u03c5\u03c2 \u03ba\u03b1\u03b9 \u03bc\u03b9\u03b1 \u039f\u03b4\u03cd\u03c3\u03c3\u03b5\u03b9\u03b1 - \u03b1\u03c0\u03cc \u03b3\u03b9\u03b1\u03c4\u03c1\u03cc \u03c3\u03b5 \u03b3\u03b9\u03b1\u03c4\u03c1\u03cc, \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c3\u03b7 \u03c3\u03c4\u03bf \u03b5\u03bd\u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd. <\/p>\n\n\n\n

Kinderbetreuung schwierig zu bekommen <\/strong><\/p>\n\n\n\n

Bei Instagram versucht die Familie, unter dem Account @matteo_mds auf die seltene Krankheit aufmerksam zu machen und auch andere betroffene Eltern zu finden, um sich auszutauschen und zu unterst\u00fctzen. <\/p>\n\n\n\n

\u039f Matteo \u03ad\u03c7\u03b5\u03b9 \u03ad\u03bd\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b1 seltenen Kindergartenpl\u00e4tze f\u00fcr schwer behinderte Kinder in Wien bekommen. Noch kann er stehen, laufen, lachen und ein bisschen sprechen. Noch hat er keine epileptischen Anf\u00e4lle. \u039a\u03b1\u03b9 \u03bf\u03b9 \u03b3\u03bf\u03bd\u03b5\u03af\u03c2 \u03c4\u03bf\u03c5 \u03b5\u03bb\u03c0\u03af\u03b6\u03bf\u03c5\u03bd \u03cc\u03c4\u03b9 \u03b1\u03c5\u03c4\u03cc \u03b8\u03b1 \u03c3\u03c5\u03bd\u03b5\u03c7\u03b9\u03c3\u03c4\u03b5\u03af \u03b1\u03ba\u03cc\u03bc\u03b1. <\/p>","protected":false},"excerpt":{"rendered":"

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 […]<\/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":"\nMECP2-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\/el\/\u03bf-\u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03cc\u03c2-\u03c4\u03bf\u03c5-\u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5-mecp2-\u03b5\u03bc\u03c6\u03b1\u03bd\u03af\u03b6\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"el_GR\" \/>\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). 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