{"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":"niemiecka-gazeta-rtl-mowi-o-zespole-duplikacji-mecp2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/niemiecka-gazeta-rtl-mowi-o-zespole-duplikacji-mecp2\/","title":{"rendered":"Niemiecka gazeta (RTL) m\u00f3wi o zespole duplikacji MECP2"},"content":{"rendered":"<p>Matteo, nosiciel zespo\u0142u duplikacji MECP2, i jego rodzina opowiadaj\u0105 o swojej drodze do diagnozy w niemieckiej gazecie (RTL).<\/p>\n\n\n\n<p>T\u0142umaczenie artyku\u0142u mo\u017cna znale\u017a\u0107 tutaj. Przet\u0142umaczone z j\u0119zyka niemieckiego przez Caroline Covini. <\/p>\n\n\n\n<p><\/p>\n\n\n\n<p>Postawienie w\u0142a\u015bciwej diagnozy trwa\u0142o wieczno\u015b\u0107. <\/p>\n\n\n\n<p><strong>\"TRZY RAZY PRAWIE STRACILI\u015aMY MATTEO\": MATTEO (4 LATA) CIERPI NA RZADK\u0104 CHOROB\u0118 GENETYCZN\u0104<\/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 i jego rodzina \u00a9 RTL <\/figcaption><\/figure>\n\n\n\n<p>Napisany przez Julia Jaegler dnia 1 czerwca 2022.<\/p>\n\n\n\n<p>Ma\u0142y Matteo z Wiednia ma zaledwie cztery lata, ale widzia\u0142 ju\u017c wiele szpitali i lekarzy. \"On po prostu zarazi\u0142 si\u0119 tymi wszystkimi r\u00f3\u017cnymi infekcjami i musieli\u015bmy zabiera\u0107 go do szpitala co dwa tygodnie\", m\u00f3wi David C. dla RTL. \"W ci\u0105gu pierwszych dw\u00f3ch lat jego \u017cycia, trzy razy prawie stracili\u015bmy Matteo. Ju\u017c wtedy on i jego \u017cona Caroline zdali sobie spraw\u0119, \u017ce co\u015b jest nie tak z ich dzieckiem. Ale co? <\/p>\n\n\n\n<p><strong>\"Stracili\u015bmy tyle czasu, zanim w ko\u0144cu mogli\u015bmy uzyska\u0107 diagnoz\u0119, to by\u0142o straszne. <\/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 lata) cierpi na rzadk\u0105 chorob\u0119 genetyczn\u0105. \u00a9 rtl.de<\/figcaption><\/figure>\n\n\n\n<p>Kiedy Matteo urodzi\u0142 si\u0119 w maju 2018 roku, wszystko wydawa\u0142o si\u0119 w porz\u0105dku. Ale jego rodzice, zar\u00f3wno naukowcy, jak i chemicy z bran\u017cy farmaceutycznej, szybko nabrali podejrze\u0144. Jest po prostu troch\u0119 sp\u00f3\u017aniony\" - m\u00f3wi\u0105 lekarze, poniewa\u017c Matteo nie chodzi\u0142, dop\u00f3ki nie sko\u0144czy\u0142 28 miesi\u0119cy. David i Caroline C. nie byli tym usatysfakcjonowani i sami pr\u00f3bowali zrozumie\u0107, co jest nie tak z ich synem. To by\u0142a d\u0142uga i trudna droga od lekarza do lekarza: \"Stracili\u015bmy tyle czasu, zanim w ko\u0144cu otrzymali\u015bmy diagnoz\u0119, to by\u0142o straszne\", wyja\u015bnia jej ojciec, opisuj\u0105c ten okres niepewno\u015bci. <\/p>\n\n\n\n<p><strong>\"Matteo nie rozumie i nie czuje wszystkiego. Potrafi powiedzie\u0107 tylko kilka s\u0142\u00f3w. <\/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\">Ma\u0142y Matteo w domu \u00a9 rtl.de <\/figcaption><\/figure>\n\n\n\n<p>Ale diagnoza by\u0142a r\u00f3wnie\u017c straszna: w sierpniu 2021 r., trzy i p\u00f3\u0142 roku po urodzeniu Matteo, zapad\u0142 werdykt: u ma\u0142ego ch\u0142opca, obecnie czteroletniego, zdiagnozowano rzadk\u0105 wad\u0119 genetyczn\u0105 zwan\u0105 zespo\u0142em duplikacji MECP2 (MDS). \"Na \u015bwiecie znanych jest tylko oko\u0142o 200 przypadk\u00f3w tej choroby, co czyni j\u0105 jeszcze trudniejsz\u0105, poniewa\u017c nie ma prawie \u017cadnych pieni\u0119dzy na badania nad tak rzadkimi chorobami\" - m\u00f3wi ojciec Matteo. Bia\u0142ko m\u00f3zgowe, kt\u00f3re kontroluje inne bia\u0142ka, jest podwojone u Matteo. Ma to wp\u0142yw na jego rozw\u00f3j intelektualny i fizyczny, wyja\u015bnia jego matka Caroline na temat wady genetycznej syna: \"Matteo nie rozumie i nie czuje wszystkiego. Potrafi powiedzie\u0107 tylko kilka s\u0142\u00f3w. <\/p>\n\n\n\n<p><strong>Rodzice prze\u017cyli prawdziw\u0105 odysej\u0119 <\/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 na \u0142awce \u00a9 rtl.de <\/figcaption><\/figure>\n\n\n\n<p>Ale najgorsze dla rodzic\u00f3w, kt\u00f3rzy mieszkaj\u0105 w Wiedniu, s\u0105 prognozy dotycz\u0105ce przysz\u0142o\u015bci ich syna: 50 procent os\u00f3b dotkni\u0119tych chorob\u0105 ma napady padaczkowe w wieku od siedmiu do dziewi\u0119ciu lat - po tym czasie nabyte umiej\u0119tno\u015bci, takie jak chodzenie, cz\u0119sto gwa\u0142townie spadaj\u0105. Tylko po\u0142owa dotkni\u0119tych chorob\u0105 dzieci do\u017cywa 25. urodzin. <\/p>\n\n\n\n<p>\"Jako naukowcy w zasadzie rozumiemy, co m\u00f3wi\u0105 nam lekarze. Ale jak czuj\u0105 si\u0119 inni rodzice, gdy s\u0142ysz\u0105 te wszystkie skomplikowane terminy techniczne bez wyja\u015bnienia? Rodzice, oboje naukowcy na kierowniczych stanowiskach, s\u0105 zaznajomieni z dziedzin\u0105 medycyny. Jednak by\u0142a to dla nich nieko\u0144cz\u0105ca si\u0119 walka - od lekarza do lekarza, w obliczu zak\u0142opotania i oboj\u0119tno\u015bci. <\/p>\n\n\n\n<p><strong>Uzyskanie opieki nad dzieckiem jest wyzwaniem <\/strong><\/p>\n\n\n\n<p>Za po\u015brednictwem konta @matteo_mds na Instagramie rodzina stara si\u0119 zwr\u00f3ci\u0107 uwag\u0119 na t\u0119 rzadk\u0105 chorob\u0119, a tak\u017ce znale\u017a\u0107 inne dotkni\u0119te ni\u0105 rodziny, aby dzieli\u0107 si\u0119 i wspiera\u0107 nawzajem. <\/p>\n\n\n\n<p>Matteo dosta\u0142 jedno z niewielu miejsc w przedszkolu dla niepe\u0142nosprawnych dzieci w Wiedniu. Potrafi sta\u0107, chodzi\u0107, \u015bmia\u0107 si\u0119 i powiedzie\u0107 kilka s\u0142\u00f3w. Nie ma napad\u00f3w padaczkowych. Jego rodzice maj\u0105 nadziej\u0119, \u017ce b\u0119dzie to trwa\u0142o jak najd\u0142u\u017cej. <\/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\/pl\/niemiecka-gazeta-rtl-mowi-o-zespole-duplikacji-mecp2\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\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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