{"id":15976,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"https:\/\/dupmecp2.eu\/un-giornale-tedesco-rtl-parla-della-sindrome-da-duplicazione-di-mecp2\/"},"modified":"2023-04-17T16:18:24","modified_gmt":"2023-04-17T16:18:24","slug":"dziennik-tedesco-rtl-mowi-o-syndromie-duplikacji-mecp2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/dziennik-tedesco-rtl-mowi-o-syndromie-duplikacji-mecp2\/","title":{"rendered":"Dziennik tedesco (RTL) m\u00f3wi o syndromie duplikacji MECP2"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Matteo, nosiciel Sindromu Duplikacji MECP2, i jego rodzina rozmawiali z gazet\u0105 Tedesco (RTL) o drodze, jak\u0105 musieli przej\u015b\u0107, aby doj\u015b\u0107 do diagnozy.<\/p>\n\n<p class=\"wp-block-paragraph\">Zapraszamy do zapoznania si\u0119 z t\u0142umaczeniem artyku\u0142u. Traduzione dal tedesco di Marco &amp; Rita. <\/p>\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n<p class=\"wp-block-paragraph\">Postawienie prawid\u0142owej diagnozy zaj\u0119\u0142o du\u017co czasu. <\/p>\n\n<p class=\"wp-block-paragraph\"><strong>\"W ci\u0105gu pierwszych dw\u00f3ch lat swojego \u017cycia, prawie uda\u0142o nam si\u0119 straci\u0107 Matteo na trzy razy\".<\/strong> <\/p>\n\n<p class=\"wp-block-paragraph\">Napisane przez Juli\u0119 Jaegler 1 lipca 2022 r. <\/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 i jego rodzina \u00a9 RTL <\/figcaption><\/figure>\n\n<p class=\"wp-block-paragraph\">Il piccolo Matteo di Vienna ma zaledwie 4 lata, ale pozna\u0142 ju\u017c wielu lekarzy i szpitali. \"Cz\u0119sto cierpia\u0142 na infekcje i musieli\u015bmy zabiera\u0107 go do szpitala co dwa tygodnie\", powiedzia\u0142 David C. w wywiadzie dla RTL. \"W ci\u0105gu pierwszych dw\u00f3ch lat jego \u017cycia, trzy razy prawie stracili\u015bmy Matteo\". Gia' in quei momenti, David e sua moglie Caroline capirono che c'era qualcosa che non andava con loro figlio. Ale co? <\/p>\n\n<p class=\"wp-block-paragraph\"><strong>\"Abbiamo perso cosi' tanto tempo prima di arrivare una diagnosi, e' stato 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, lat 4, ma powa\u017cn\u0105 wad\u0119 genetyczn\u0105. \u00a9 rtl.de<\/figcaption><\/figure>\n\n<p class=\"wp-block-paragraph\">Kiedy Matteo urodzi\u0142 si\u0119 w marcu 2018 roku, wszystko wydawa\u0142o si\u0119 by\u0107 w porz\u0105dku. Ma i genitori, entrambi scienziati e chimici impiegati nell'industria farmaceutica, iniziarono presto a sospettare qualcosa. \"E' solo un po' in ritardo\" dicevano i dottori anche se Matteo non ha iniziato a camminare fino quando ha avuto 28 mesi. David i Caroline C. nie byli rozczarowani otrzymanymi informacjami i pr\u00f3bowali sami dowiedzie\u0107 si\u0119, w czym tkwi problem. \"Abbiamo perso cosi' tanto tempo prima di ottenere finalmente la diagnosi, e' stato terribile\" dice il padre quando reconta di questo lungo periodo di incertezza. <\/p>\n\n<p class=\"wp-block-paragraph\"><strong>\"Matteo non capisce, ne' sente tutto. Riesce a dire solo alcune 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 a casa \u00a9 rtl.de <\/figcaption><\/figure>\n\n<p class=\"wp-block-paragraph\">Ale diagnoza by\u0142a straszna: w sierpniu 2021 r., 3 i p\u00f3\u0142 roku po jego urodzeniu, zapad\u0142 werdykt: u malucha, kt\u00f3ry ma teraz 4 lata, zdiagnozowano rzadk\u0105 chorob\u0119 genetyczn\u0105 znan\u0105 jako MECP2 Duplication Disorder (MDS). \"Na \u015bwiecie znanych jest tylko 200 przypadk\u00f3w tej choroby. To jeszcze bardziej komplikuje spraw\u0119, poniewa\u017c trudno jest znale\u017a\u0107 fundusze na badania nad tak rzadk\u0105 chorob\u0105\", m\u00f3wi ojciec Matteo. Bia\u0142ko m\u00f3zgowe, kt\u00f3re kontroluje inne bia\u0142ka, wyst\u0119puje u Matteo w podw\u00f3jnej ilo\u015bci. Ma to wp\u0142yw na jego rozw\u00f3j intelektualny i motoryczny, m\u00f3wi jego matka Caroline: \"Matteo nie rozumie, nie czuje wszystkiego. Riesce a dire solo alcune parole\". <\/p>\n\n<p class=\"wp-block-paragraph\"><strong>Rodzice widzieli prawdziw\u0105 odysej\u0119 <\/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 su una panca \u00a9 rtl.de <\/figcaption><\/figure>\n\n<p class=\"wp-block-paragraph\">Jednak najwa\u017cniejsz\u0105 rzecz\u0105 dla rodzic\u00f3w Matteo, kt\u00f3rzy mieszkaj\u0105 w Wiedniu, jest przysz\u0142o\u015b\u0107 ich syna: 50% dzieci dotkni\u0119tych t\u0105 chorob\u0105 cierpi na epilepsj\u0119 w wieku od 7 do 9 lat, po czym ich nabyte umiej\u0119tno\u015bci, takie jak chodzenie, gwa\u0142townie spadaj\u0105. Tylko oko\u0142o po\u0142owa dzieci z t\u0105 chorob\u0105 osi\u0105ga wiek 25 lat. <\/p>\n\n<p class=\"wp-block-paragraph\">\"Come scienziati, riusciamo a capire quasi tutto quello che i dottori ci dicono. Ale jak poczuj\u0105 si\u0119 inni rodzice w obliczu tych skomplikowanych termin\u00f3w, kt\u00f3re s\u0105 przedstawiane bez \u017cadnych wyja\u015bnie\u0144? Rodzice, wszyscy naukowcy odpowiedzialni za przemys\u0142 farmaceutyczny, s\u0105 zaznajomieni z dziedzin\u0105 medycyny. Mimo to by\u0142a to dla nich ci\u0105g\u0142a walka, aby przej\u015b\u0107 od jednego lekarza do drugiego i musieli stawi\u0107 czo\u0142a ich zak\u0142opotaniu i oboj\u0119tno\u015bci. <\/p>\n\n<p class=\"wp-block-paragraph\"><strong>Uzyskanie pomocy jest trudne <\/strong><\/p>\n\n<p class=\"wp-block-paragraph\">Na Instagramie rodzina stara si\u0119, za po\u015brednictwem konta @matteo_mds, zwr\u00f3ci\u0107 uwag\u0119 wszystkich na t\u0119 powa\u017cn\u0105 chorob\u0119 genetyczn\u0105 i znale\u017a\u0107 inne rodziny, kt\u00f3re zmagaj\u0105 si\u0119 z tymi trudno\u015bciami, aby je pokona\u0107 i wzmocni\u0107. <\/p>\n\n<p class=\"wp-block-paragraph\">Matteo ma jedno z niewielu miejsc dla niepe\u0142nosprawnych dzieci w Wiedniu. Potrafi chodzi\u0107, chodzi\u0107, chodzi\u0107 i powiedzie\u0107 kilka s\u0142\u00f3w. Nie ma padaczki. Jej rodzice maj\u0105 nadziej\u0119, \u017ce jej stan b\u0119dzie trwa\u0142 jak najd\u0142u\u017cej. <\/p>","protected":false},"excerpt":{"rendered":"<p>Matteo, portatore della Sindrome da Duplicazione di MECP2, e la sua famiglia parlano a un giornale tedesco (RTL) del percorso che hanno dovuto fare per arrivare alla diagnosi. Trova la [&hellip;]<\/p>","protected":false},"author":1,"featured_media":12835,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[140],"tags":[],"class_list":["post-15976","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medias-it"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Un giornale tedesco (RTL) parla della Sindrome da Duplicazione di 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\/pl\/dziennik-tedesco-rtl-mowi-o-syndromie-duplikacji-mecp2\/?lang=it\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Un giornale tedesco (RTL) parla della Sindrome da Duplicazione di MECP2 - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Matteo, portatore della Sindrome da Duplicazione di MECP2, e la sua famiglia parlano a un giornale tedesco (RTL) del percorso che hanno dovuto fare per arrivare alla diagnosi. 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