{"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":"czasopismo-alemanskie-rtl-mowi-o-zespole-duplikacji-mecp2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/czasopismo-alemanskie-rtl-mowi-o-zespole-duplikacji-mecp2\/","title":{"rendered":"Ameryka\u0144ski dziennik (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 jednym z niemieckich periodyk\u00f3w (RTL).<\/p>\n\n<p>Tutaj znajdziesz t\u0142umaczenie artyku\u0142u. Przet\u0142umaczone z j\u0119zyka niemieckiego przez Karyn Lebescont. <\/p>\n\n<p><\/p>\n\n<p>Prawid\u0142owa diagnoza trwa\u0142a wieczno\u015b\u0107. <\/p>\n\n<p><strong>\"CASI PERDEMOS A MATTEO TRES VECES\": MATTEO (4 LATA) CIERPI NA RZADK\u0104 CHOROB\u0118 GENETYCZN\u0104.<\/strong> <\/p>\n\n<p>Napisane przez Julia Jaegler el 1 Junio 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 i jego rodzina \u00a9 RTL <\/figcaption><\/figure>\n\n<p>Ma\u0142y Matteo z Vieny ma zaledwie dwa lata, ale przeszed\u0142 ju\u017c przez wiele szpitali i lekarzy. \"El Contrajo todas estas infecciones y tuvimos que llevarlo al hospital cada dos semanas\", powiedzia\u0142 David C. dla RTL. \"En sus dos primeros a\u00f1os de vida, casi perdemos a Matteo tres veces\". W tym momencie on i jego \u017cona Caroline zdali sobie spraw\u0119, \u017ce co\u015b jest nie tak z ich synem. \u00bfPero qu\u00e9? <\/p>\n\n<p><strong>\"Perdimos tanto tiempo hasta que por fin pudimos obtener el diagn\u00f3stico, fue horrible\". <\/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 lata) cierpi na rzadk\u0105 chorob\u0119 genetyczn\u0105 \u00a9 rtl.de<\/figcaption><\/figure>\n\n<p>Kiedy Matteo urodzi\u0142 si\u0119 w maju 2018 roku, wszystko wydawa\u0142o si\u0119 by\u0107 w porz\u0105dku, ale jego rodzice, zar\u00f3wno naukowcy, jak i specjali\u015bci z bran\u017cy farmaceutycznej, nie zwlekali z m\u00f3wieniem. \"S\u00f3lo se ha retrasado un poco\", dicen los m\u00e9dicos, ya que Matteo no camin\u00f3 hasta los 28 meses. David i Caroline C. nie uwa\u017caj\u0105, \u017ce s\u0105 m\u015bciwi i chc\u0105 sami dowiedzie\u0107 si\u0119, co sta\u0142o si\u0119 z ich synem. Fue un camino largo y dif\u00edcil de m\u00e9dico en m\u00e9dico: \"Perdimos mucho tiempo antes de que por fin nos dieran un diagn\u00f3stico, fue terrible\", explica su padre para describir este periodo de incertidumbre. <\/p>\n\n<p><strong>\"Matteo no lo entiende y no lo siente todo. S\u00f3lo puede decir unas pocas palabras\". <\/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\">Ma\u0142y Matteo w domu \u00a9 rtl.de <\/figcaption><\/figure>\n\n<p>Ale diagnoza r\u00f3wnie\u017c okaza\u0142a si\u0119 straszna: w lutym 2021 r., trzy lata po narodzinach Matteo, okaza\u0142o si\u0119, \u017ce u ch\u0142opca, kt\u00f3ry ma teraz cztery lata, zdiagnozowano powa\u017cn\u0105 wad\u0119 genetyczn\u0105, zwan\u0105 zespo\u0142em duplikacji MECP2 (MDS). \"S\u00f3lo se conocen unos 200 casos de esta enfermedad en el mundo, lo que lo hace a\u00fan m\u00e1s dif\u00edcil porque no se destina mucho dinero a la investigaci\u00f3n de enfermedades tan raras \", dice el padre de Matteo. Bia\u0142ko m\u00f3zgowe, kt\u00f3re kontroluje inne bia\u0142ka, zosta\u0142o zduplikowane 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<p><strong>Rodzice \u017cyli w autentycznym odosobnieniu <\/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 w banku \u00a9 rtl.de <\/figcaption><\/figure>\n\n<p>Jednak najgorsz\u0105 rzecz\u0105 dla ich ojc\u00f3w, kt\u00f3rzy mieszkaj\u0105 w Wiedniu, s\u0105 prognozy dotycz\u0105ce przysz\u0142o\u015bci ich syna: osoby cierpi\u0105ce na 50% do\u015bwiadczaj\u0105 atak\u00f3w padaczkowych mi\u0119dzy si\u00f3dmym a dziewi\u0105tym rokiem \u017cycia; po tym czasie nabyte umiej\u0119tno\u015bci, takie jak chodzenie, maj\u0105 tendencj\u0119 do szybkiego pogarszania si\u0119. Tylko po\u0142owa dzieci dotkni\u0119tych t\u0105 chorob\u0105 ma ponad 25 lat. <\/p>\n\n<p>\"Jako naukowcy dobrze rozumiemy to, 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? Los padres, ambos cient\u00edficos en puestos de responsabilidad, est\u00e1n familiarizados con el campo de la medicina. Jednak dla nich by\u0142a to nieko\u0144cz\u0105ca si\u0119 walka: od lekarza do lekarza, w obliczu zak\u0142opotania i oboj\u0119tno\u015bci. <\/p>\n\n<p><strong>Uzyskanie ochrony jest nie lada wyzwaniem <\/strong><\/p>\n\n<p>Na Instagramie rodzina zamierza za po\u015brednictwem konta @matteo_mds zwr\u00f3ci\u0107 uwag\u0119 na t\u0119 powa\u017cn\u0105 chorob\u0119, a tak\u017ce spotka\u0107 inne rodziny dotkni\u0119te chorob\u0105, aby dzieli\u0107 si\u0119 i wzajemnie wspiera\u0107. <\/p>\n\n<p>Matteo korzysta z jednego z niewielu miejsc w stra\u017cnicach dla niepe\u0142nosprawnych dzieci w Wiedniu. Mo\u017ce chodzi\u0107, porusza\u0107 si\u0119, czyta\u0107 i wypowiada\u0107 kilka s\u0142\u00f3w, nie ma atak\u00f3w epileptycznych, a jego rodzice oczekuj\u0105, \u017ce b\u0119dzie \u017cy\u0142 jak najd\u0142u\u017cej. <\/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\/pl\/czasopismo-alemanskie-rtl-mowi-o-zespole-duplikacji-mecp2\/?lang=es\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\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). 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Aqu\u00ed encontrar\u00e1 la traducci\u00f3n del art\u00edculo. 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