{"id":1650,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?p=1650"},"modified":"2022-11-19T14:01:30","modified_gmt":"2022-11-19T14:01:30","slug":"artykul-kronen-zeitung","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/artykul-kronen-zeitung\/","title":{"rendered":"Zesp\u00f3\u0142 duplikacji genu MECP2 opisany w austriackiej gazecie (Kronen Zeitung)"},"content":{"rendered":"

Matteo, kt\u00f3ry ma zesp\u00f3\u0142 duplikacji genu MECP2, pojawi\u0142 si\u0119 w Kronen Zeitung, austriackiej gazecie (Anja Richter). <\/p>\n\n\n\n

Przeczytaj t\u0142umaczenie tutaj (przet\u0142umaczone z niemieckiego przez Karyn Lebescont) <\/p>\n\n\n\n

4-LETNI CH\u0141OPIEC Z WAD\u0104 GENETYCZN\u0104<\/strong><\/p>\n\n\n\n

\"Prognozy dotycz\u0105ce przysz\u0142o\u015bci naszego dziecka przera\u017caj\u0105 nas\".<\/p>\n\n\n\n

Artyku\u0142 Anji Richter dla Kronen Zeitung. 30.05.2022<\/p>\n\n\n\n

\"\"
(Zdj\u0119cie: Martin A. J\u00f6chl, Krone KREATIV)<\/figcaption><\/figure>\n\n\n\n

Przez trzy i p\u00f3\u0142 roku rodzice Matteo kr\u0119cili si\u0119 w k\u00f3\u0142ko. Dopiero pod koniec tego okresu otrzymali szokuj\u0105c\u0105 diagnoz\u0119. Ta zaanga\u017cowana para chemik\u00f3w chce oszcz\u0119dzi\u0107 innym rodzinom takiego biegu.<\/p>\n\n\n\n

Kiedy Matteo urodzi\u0142 si\u0119 w maju 2018 roku, lekarze twierdzili, \u017ce z ch\u0142opcem wszystko jest w porz\u0105dku. Nawet gdy liczne infekcje wyl\u0105dowa\u0142y w szpitalu w pierwszym roku jego \u017cycia, rodzicom powiedziano, \u017ceby si\u0119 nie martwili. Nawet gdy ch\u0142opiec zacz\u0105\u0142 chodzi\u0107 dopiero w wieku 28 miesi\u0119cy, powiedziano im: \"To po prostu troch\u0119 za p\u00f3\u017ano\". Jednak David i Caroline C. od dawna przeczuwali, \u017ce co\u015b jest nie tak z ich synem. Ale co to by\u0142o?<\/p>\n\n\n\n

W Austrii odnotowano tylko dwa przypadki tej choroby<\/strong><\/p>\n\n\n\n

I tak rozpocz\u0105\u0142 si\u0119 tor przeszk\u00f3d z udzia\u0142em dziesi\u0105tek lekarzy. W sierpniu 2021 roku, trzy i p\u00f3\u0142 roku po narodzinach Matteo, jego rodzice otrzymali szokuj\u0105c\u0105 diagnoz\u0119 z wiede\u0144skiego Instytutu Genetyki MedUni. Czteroletni ch\u0142opiec by\u0142 jednym z zaledwie dwojga austriackich dzieci cierpi\u0105cych na rzadk\u0105 wad\u0119 genetyczn\u0105 MECP2. Na ca\u0142ym \u015bwiecie odnotowano tylko 215 przypadk\u00f3w tej choroby, kt\u00f3ra jest podobna do zespo\u0142u Retta, ale dotyka g\u0142\u00f3wnie ch\u0142opc\u00f3w.<\/p>\n\n\n\n

\"\"
(Zdj\u0119cie: Martin A. J\u00f6chl, Krone KREATIV)<\/figcaption><\/figure>\n\n\n\n

Matteo mo\u017ce powiedzie\u0107 kilka s\u0142\u00f3w i i\u015b\u0107. Ale czy tak pozostanie?<\/strong><\/p>\n\n\n\n

\"U Matteo bia\u0142ko m\u00f3zgowe, kt\u00f3re kontroluje inne bia\u0142ka, jest obecne dwukrotnie. Ma to wp\u0142yw zar\u00f3wno na jego rozw\u00f3j intelektualny, jak i fizyczny\", wyja\u015bnia jego matka Caroline podczas spotkania z \"Krone\" w wiede\u0144skim parku. \"Nie rozumie i nie czuje wszystkiego, potrafi wypowiedzie\u0107 tylko kilka s\u0142\u00f3w\", m\u00f3wi.<\/p>\n\n\n\n

\"Ale najbardziej przera\u017caj\u0105ce s\u0105 prognozy dotycz\u0105ce przysz\u0142o\u015bci naszego dziecka. Poniewa\u017c 50 procent dzieci dotkni\u0119tych t\u0105 chorob\u0105 ma napady padaczkowe, zanim osi\u0105gn\u0105 wiek wystarczaj\u0105cy do p\u00f3j\u015bcia do szko\u0142y podstawowej i tylko stopniowo odzyskuj\u0105 zdolno\u015bci, kt\u00f3re kiedy\u015b posiada\u0142y\", wyja\u015bnia chemik z Pary\u017ca. Tylko po\u0142owa os\u00f3b dotkni\u0119tych t\u0105 chorob\u0105 nadal \u017cyje w wieku 25 lat.<\/p>\n\n\n\n

\"\"
(Zdj\u0119cie: Martin A. J\u00f6chl, Krone KREATIV)<\/figcaption><\/figure>\n\n\n\n

Rodzina pozostawiona sama sobie z diagnoz\u0105<\/strong><\/p>\n\n\n\n

\"Nawet nie chcemy sobie tego wyobra\u017ca\u0107\", m\u00f3wi ojciec Matteo, kt\u00f3ry jest r\u00f3wnie\u017c chemikiem i zajmuje odpowiedzialne stanowisko w Wiedniu. To, co martwi tego czterdziestolatka, to spos\u00f3b, w jaki rodziny s\u0105 konfrontowane z tak strasznymi diagnozami: \"Jako naukowcy rozumiemy mniej wi\u0119cej to, co m\u00f3wi\u0105 nam lekarze. Ale jak musz\u0105 czu\u0107 si\u0119 inni rodzice, gdy wszystkie te skomplikowane terminy techniczne s\u0105 im podrzucane bez wyja\u015bnienia?<\/p>\n\n\n\n

Rodzice pr\u00f3buj\u0105 podj\u0105\u0107 dzia\u0142ania w celu poprawy systemu<\/strong><\/p>\n\n\n\n

Rodzice, kt\u00f3rzy maj\u0105 teraz dobr\u0105 mi\u0119dzynarodow\u0105 sie\u0107 kontakt\u00f3w, walcz\u0105 o popraw\u0119 systemu. Nie tylko dla swojego syna, ale dla wszystkich zaanga\u017cowanych rodzin: \"Rodzice potrzebuj\u0105 lepszego wsparcia, na przyk\u0142ad pomocy psychologicznej. Ale potrzebuj\u0105 tak\u017ce pomocy we wszystkim, od rehabilitacji po plac\u00f3wki opieki dziennej i wiele wi\u0119cej.<\/p>\n\n\n\n

Matteo zapewni\u0142 sobie jedno z niewielu miejsc w przedszkolu dla niepe\u0142nosprawnych dzieci w Wiedniu i ucz\u0119szcza do szko\u0142y Karla Schuberta w Liesing. \"Na li\u015bcie oczekuj\u0105cych jest 40 dzieci. Tutaj r\u00f3wnie\u017c istnieje pilna potrzeba dzia\u0142ania\". Para jest r\u00f3wnie\u017c zaanga\u017cowana w zapewnienie, \u017ce rodzice niepe\u0142nosprawnych dzieci nie b\u0119d\u0105 zmuszeni do rezygnacji z pracy z powodu braku miejsc opieki nad dzie\u0107mi, a tym samym popadni\u0119cia w spiral\u0119 ub\u00f3stwa.<\/p>\n\n\n\n

Zwi\u0105zek z sze\u015bcioletni\u0105 siostr\u0105 jest bardzo wyra\u017any<\/strong><\/p>\n\n\n\n

Spos\u00f3b, w jaki rodzina C. radzi sobie w \u017cyciu, jest godny podziwu! Najlepiej wida\u0107 to w szcz\u0119\u015bliwych oczach ich syna, kt\u00f3ry kilkakrotnie u\u015bmiecha si\u0119 i wo\u0142a \"\u0142\u00f3d\u017a\", gdy spotyka \"Krone\". Wi\u0119\u017a z jego sze\u015bcioletni\u0105 siostr\u0105 Nyss\u0105 jest r\u00f3wnie\u017c wyra\u017anie widoczna. Mama Caroline u\u015bmiecha si\u0119, gdy o nich m\u00f3wi: \"Nyssa jest niesamowicie czu\u0142a w stosunku do Matteo i martwi si\u0119 o niego. Mamy wra\u017cenie, \u017ce czasami rozumie, czego potrzebuje w danym momencie lepiej ni\u017c my\".<\/p>\n\n\n\n

Projekt badawczy MECP2<\/strong><\/p>\n\n\n\n

Chcesz dowiedzie\u0107 si\u0119 wi\u0119cej o Matteo lub wesprze\u0107 badania nad jego rzadk\u0105 chorob\u0105 genetyczn\u0105? Skontaktuj si\u0119 z jego rodzicami przez :<\/p>\n\n\n\n

Konto Matteo na Instagramie: matteo_mds E-mail: matteo_mds@gmx.net<\/p>\n\n\n\n

Aby wesprze\u0107 dzia\u0142ania z dzie\u0107mi w szkole Matteo: Karl Schubert School Association (IBAN: AT83 1100 0006 6197 9500, BIC: BKAUATWW)<\/p>","protected":false},"excerpt":{"rendered":"

Matteo atteint du syndrome de la duplication du g\u00e8ne MECP2 apparait dans le Kronen Zeitung, un journal autrichien (Anja Richter). Retrouvez ici la traduction (Traduit de l’allemand par Karyn Lebescont) […]<\/p>","protected":false},"author":1,"featured_media":1531,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[45],"tags":[],"class_list":["post-1650","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medias"],"yoast_head":"\nLe syndrome de duplication du g\u00e8ne MECP2 apparait dans un journal autrichien (Kronen Zeitung) - 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\/zespol-duplikacji-mecp2-pojawia-sie-w-austriackiej-gazecie-kronen-zeitung\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Le syndrome de duplication du g\u00e8ne MECP2 apparait dans un journal autrichien (Kronen Zeitung) - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Matteo atteint du syndrome de la duplication du g\u00e8ne MECP2 apparait dans le Kronen Zeitung, un journal autrichien (Anja Richter). Retrouvez ici la traduction (Traduit de l’allemand par Karyn Lebescont) […]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dupmecp2.eu\/pl\/zespol-duplikacji-mecp2-pojawia-sie-w-austriackiej-gazecie-kronen-zeitung\/?lang=en\" \/>\n<meta property=\"og:site_name\" content=\"DupMECP2\" \/>\n<meta property=\"article:published_time\" content=\"2022-06-14T20:42:45+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-11-19T14:01:30+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/06\/Screen-Shot-2022-06-12-at-12.50.34-PM-e1658323119765.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"828\" \/>\n\t<meta property=\"og:image:height\" content=\"699\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Caroline\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Napisane przez\" \/>\n\t<meta name=\"twitter:data1\" content=\"Caroline\" \/>\n\t<meta name=\"twitter:label2\" content=\"Szacowany czas czytania\" \/>\n\t<meta name=\"twitter:data2\" content=\"5 minut\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/dupmecp2.eu\/mecp2-duplication-syndrome-appears-in-the-kronen-zeitung-austrian-newspaper\/?lang=en#article\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/mecp2-duplication-syndrome-appears-in-the-kronen-zeitung-austrian-newspaper\/?lang=en\"},\"author\":{\"name\":\"Caroline\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/person\/b41e8cbba153cd974ee340386af279ee\"},\"headline\":\"Le syndrome de duplication du g\u00e8ne MECP2 apparait dans un journal autrichien (Kronen Zeitung)\",\"datePublished\":\"2022-06-14T20:42:45+00:00\",\"dateModified\":\"2022-11-19T14:01:30+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/mecp2-duplication-syndrome-appears-in-the-kronen-zeitung-austrian-newspaper\/?lang=en\"},\"wordCount\":875,\"publisher\":{\"@id\":\"https:\/\/dupmecp2.eu\/#organization\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/mecp2-duplication-syndrome-appears-in-the-kronen-zeitung-austrian-newspaper\/?lang=en#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/06\/Screen-Shot-2022-06-12-at-12.50.34-PM-e1658323119765.jpg\",\"articleSection\":[\"M\u00e9dias\"],\"inLanguage\":\"pl-PL\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/dupmecp2.eu\/mecp2-duplication-syndrome-appears-in-the-kronen-zeitung-austrian-newspaper\/?lang=en\",\"url\":\"https:\/\/dupmecp2.eu\/mecp2-duplication-syndrome-appears-in-the-kronen-zeitung-austrian-newspaper\/?lang=en\",\"name\":\"Le syndrome de duplication du g\u00e8ne MECP2 apparait dans un journal autrichien (Kronen Zeitung) - 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