{"id":1651,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?p=1651"},"modified":"2022-11-19T14:01:15","modified_gmt":"2022-11-19T14:01:15","slug":"artykul-rtl","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/artykul-rtl\/","title":{"rendered":"Duplikacja genu MECP2 pojawia si\u0119 w niemieckiej gazecie (RTL)"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Matteo, nosiciel duplikacji genu MECP2, i jego rodzina opowiadaj\u0105 niemieckiej gazecie (RTL) o swojej drodze do diagnozy.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Przeczytaj ca\u0142y artyku\u0142 tutaj. Przet\u0142umaczone z j\u0119zyka niemieckiego przez Karyn Lebescont. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Postawienie w\u0142a\u015bciwej diagnozy trwa\u0142o wieczno\u015b\u0107&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u00a0\"TRZY RAZY PRAWIE GO STRACILI\u015aMY\": MATTEO (4) MA RZADK\u0104 WAD\u0118 GENETYCZN\u0104<\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Napisany przez Julia Jaegler dnia 01 czerwca 2022&nbsp;<\/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&nbsp;<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Ma\u0142y Matteo z Wiednia ma zaledwie cztery lata, ale widzia\u0142 ju\u017c wiele szpitali i lekarzy. \"Po prostu zarazi\u0142 si\u0119 wieloma infekcjami i musieli\u015bmy zabiera\u0107 go do szpitala co dwa tygodnie\", m\u00f3wi jego ojciec David C. w wywiadzie 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 to by\u0142o?&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\"Stracili\u015bmy tyle czasu, zanim w ko\u0144cu otrzymali\u015bmy diagnoz\u0119, to by\u0142o straszne.&nbsp;<\/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) ma rzadk\u0105 wad\u0119 genetyczn\u0105. \u00a9 rtl.de<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Kiedy Matteo urodzi\u0142 si\u0119 w maju 2018 roku, na pierwszy rzut oka wszystko wydawa\u0142o si\u0119 w porz\u0105dku. Ale jego rodzice, zar\u00f3wno naukowcy, jak i chemicy w dziedzinie medycyny, wkr\u00f3tce mieli w\u0105tpliwo\u015bci. \"Jest po prostu troch\u0119 sp\u00f3\u017aniony\", powiedzieli lekarze, mimo \u017ce Matteo mia\u0142 chodzi\u0107 dopiero w wieku 28 miesi\u0119cy. David i Caroline C. nie byli tym usatysfakcjonowani i pr\u00f3bowali sami dowiedzie\u0107 si\u0119, co dolega ich synowi. To by\u0142 tor przeszk\u00f3d od lekarza do lekarza, kt\u00f3ry trwa\u0142 latami: \"Stracili\u015bmy tyle czasu, zanim w ko\u0144cu otrzymali\u015bmy diagnoz\u0119, to by\u0142o straszne\", wyja\u015bnia jego ojciec, opisuj\u0105c ten okres niepewno\u015bci.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\"Matteo nie rozumie i nie czuje wszystkiego. Potrafi powiedzie\u0107 tylko kilka s\u0142\u00f3w.&nbsp;<\/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&nbsp;<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Ale diagnoza by\u0142a r\u00f3wnie\u017c straszna: w sierpniu 2021 r., trzy i p\u00f3\u0142 roku po narodzinach Matteo, zapad\u0142 werdykt: ma\u0142y ch\u0142opiec, obecnie w wieku czterech lat, cierpi na 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 spraw\u0119 jeszcze trudniejsz\u0105, poniewa\u017c nie ma prawie \u017cadnych pieni\u0119dzy na badania nad tak rzadkimi chorobami\", m\u00f3wi ojciec Matteo. Matteo ma duplikat bia\u0142ka m\u00f3zgowego, kt\u00f3re kontroluje inne bia\u0142ka. Wp\u0142ywa to zar\u00f3wno na jego rozw\u00f3j umys\u0142owy, jak i fizyczny, wyja\u015bnia jego mama Caroline na temat wady genetycznej syna: \"Matteo nie rozumie i nie czuje wszystkiego. Potrafi powiedzie\u0107 tylko kilka s\u0142\u00f3w\".&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>To by\u0142a prawdziwa odyseja dla rodzic\u00f3w&nbsp;<\/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 siedzi na \u0142awce \u00a9 rtl.de&nbsp;<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Jednak najgorsz\u0105 rzecz\u0105 dla rodzic\u00f3w, kt\u00f3rzy mieszkaj\u0105 w Wiedniu, s\u0105 prognozy na przysz\u0142o\u015b\u0107: 50 procent os\u00f3b dotkni\u0119tych chorob\u0105 ma napady padaczkowe w wieku od siedmiu do dziewi\u0119ciu lat, po kt\u00f3rych ich nabyte umiej\u0119tno\u015bci, takie jak chodzenie, cz\u0119sto gwa\u0142townie spadaj\u0105. Tylko po\u0142owa os\u00f3b dotkni\u0119tych chorob\u0105 do\u017cywa 25. urodzin.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\"Jako naukowcy w zasadzie rozumiemy, co m\u00f3wi\u0105 nam lekarze. Ale jak czuj\u0105 si\u0119 inni ludzie, gdy s\u0142ysz\u0105 te wszystkie skomplikowane terminy techniczne bez wyja\u015bnie\u0144?\". Rodzice, oboje naukowcy na odpowiedzialnych stanowiskach, wiedz\u0105 du\u017co o medycynie. Jednak by\u0142 to dla nich tor przeszk\u00f3d - od lekarza do lekarza, napotykaj\u0105c na zak\u0142opotanie i brak zainteresowania.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Trudno\u015bci ze znalezieniem opieki nad dzieckiem&nbsp;<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Na Instagramie, pod kontem @matteo_mds, rodzina stara si\u0119 zwr\u00f3ci\u0107 uwag\u0119 na t\u0119 rzadk\u0105 chorob\u0119, a tak\u017ce znale\u017a\u0107 innych zaniepokojonych rodzic\u00f3w, aby mogli dzieli\u0107 si\u0119 i wspiera\u0107 nawzajem.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Matteo otrzyma\u0142 jedno z niewielu miejsc w \u017c\u0142obku dla niepe\u0142nosprawnych dzieci w Wiedniu. Nadal mo\u017ce wstawa\u0107, chodzi\u0107, \u015bmia\u0107 si\u0119 i troch\u0119 m\u00f3wi\u0107. Nie ma napad\u00f3w padaczkowych. Jego rodzice maj\u0105 nadziej\u0119, \u017ce tak pozostanie przez d\u0142ugi czas.&nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>Matteo porteur de la duplication du g\u00e8ne MECP2 et sa famille racontent dans un journal allemand (RTL) leur chemin vers le diagnostic. Retrouvez la traduction de l&rsquo;article ici. Traduit de [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1533,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[45],"tags":[],"class_list":["post-1651","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medias"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>La duplication du g\u00e8ne MECP2 apparait dans un journal allemand (RTL) - 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\/artykul-rtl\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"La duplication du g\u00e8ne MECP2 apparait dans un journal allemand (RTL) - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Matteo porteur de la duplication du g\u00e8ne MECP2 et sa famille racontent dans un journal allemand (RTL) leur chemin vers le diagnostic. 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Retrouvez la traduction de l&rsquo;article ici. 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