{"id":7144,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T20:42:45","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/2022\/06\/14\/mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung\/"},"modified":"2022-10-25T21:40:14","modified_gmt":"2022-10-25T21:40:14","slug":"mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung\/","title":{"rendered":"MECP2-Genduplikation erscheint in der Kronen Zeitung"},"content":{"rendered":"
MECP2-Genduplikation Syndrome aparece en der Kronen Zeitung (Anja Richter) <\/p>\n\n\n\n
BUB (4) MIT GENDEFEKT<\/strong><\/p>\n\n\n\n
\"Die Prognose f\u00fcr unser Kind macht uns Angst\" (El pron\u00f3stico para nuestro hijo nos angustia)<\/p>\n\n\n\n
Kronen Zeitung. 30.05.2022<\/p>\n\n\n\n(Foto : Martin A. J\u00f6chl, Krone KREATIV)<\/figcaption><\/figure>\n\n\n\n
<\/p>\n\n\n\n
Dreieinhalb Jahre liefen Matteos Eltern im Kreis. En primer lugar, comenz\u00f3 el diagn\u00f3stico. Solch Spie\u00dfrutenl\u00e4ufe will das engagierte Chemiker-Ehepaar anderen Familien ersparen.<\/p>\n\n\n\n
Cuando Matteo naci\u00f3 en mayo de 2018, los m\u00e9dicos le dijeron que con su beb\u00e9 todo estaba en orden. A pesar de que en su primer a\u00f1o de vida sufri\u00f3 varias infecciones en el hospital, sus padres les dijeron que no deb\u00edan hacerle da\u00f1o. Und selbst, als der Bub erst mit 28 Monaten zu gehen begann, hie\u00df es: \"Er ist halt einfach sp\u00e4ter dran.\" Doch David und Caroline C. wussten l\u00e4ngst, dass mit ihrem Sohn irgendetwas nicht stimmt. \u00bfPero qu\u00e9?<\/p>\n\n\n\n
S\u00f3lo hay dos enfermedades registradas en Austria<\/strong><\/p>\n\n\n\n
Comienza un viaje de exploraci\u00f3n a dos m\u00e9dicos. En agosto de 2021, tres a\u00f1os despu\u00e9s del nacimiento de Matteos, el Instituto de Gen\u00e9tica de la Universidad de Medicina de Viena les diagnostic\u00f3 la enfermedad. El ni\u00f1o de cuatro a\u00f1os padece la rara enfermedad MECP2, que s\u00f3lo afecta a dos ni\u00f1os en Austria. Hay 215 casos registrados de esta enfermedad, que es similar al S\u00edndrome de Rett, pero que tambi\u00e9n afecta a los Buben.<\/p>\n\n\n\n(Foto : Martin A. J\u00f6chl, Krone KREATIV)<\/figcaption><\/figure>\n\n\n\n
Matteo puede decir y decir palabras. Pero, \u00bfes as\u00ed?<\/strong><\/p>\n\n\n\n
\"Una prote\u00edna en el cuerpo, que otra prote\u00edna controla, es lo que le pasa a Matteo. Se trata de algo que afecta tanto a su desarrollo f\u00edsico como a su desarrollo espiritual\", explica su madre, Caroline, durante una excursi\u00f3n con la \"corona\" en un parque de Viena. \"No lo entiende todo, s\u00f3lo puede decir unas pocas palabras\", afirma.<\/p>\n\n\n\n
\"Pero lo m\u00e1s importante es el diagn\u00f3stico para nuestro hijo. Porque el 50 % de los beneficiarios tienen epilepsia desde la infancia en las universidades populares y, a partir de entonces, vuelven a padecer las enfermedades que se les han diagnosticado\", explica la qu\u00edmica nacida en Par\u00eds. S\u00f3lo la mitad de los beneficiarios celebran su 25 cumplea\u00f1os. Geburtstag.<\/p>\n\n\n\n(Foto : Martin A. J\u00f6chl, Krone KREATIV)<\/figcaption><\/figure>\n\n\n\n
Familie mit Diagnose alleinegelassen<\/strong><\/p>\n\n\n\n
\"No queremos decir nada sobre esto\", afirma Matteos Papa, que tambi\u00e9n trabaja como qu\u00edmico en Viena. Lo que le preocupa a este hombre de 40 a\u00f1os es c\u00f3mo se enfrentan las familias a diagn\u00f3sticos muy d\u00e9biles: \"Como cient\u00edficos, entendemos muy bien lo que nos dicen los m\u00e9dicos. Aber wie muss es anderen gehen, wenn all die komplizierten Fachausdr\u00fccke un\u00fcbersetzt auf sie einprasseln?\"<\/p>\n\n\n\n
Los padres se comprometen a mejorar el sistema<\/strong><\/p>\n\n\n\n
Los padres, que a menudo est\u00e1n muy interconectados, quieren mejorar el sistema. No s\u00f3lo para sus hijos, sino para todas las familias implicadas: \"Eltern brauchen bessere Unterst\u00fctzung, etwa psychologischen Beistand. Aber auch Hilfe betreffend Reha, Tagesbetreuungsst\u00e4tten und vielem mehr\".<\/p>\n\n\n\n
Matteo ha estudiado en una de las pocas guarder\u00edas para ni\u00f1os con retraso escolar de Viena, la Karl Schubert Schule de Liesing. \"Hay 40 ni\u00f1os en la lista. Auch da gibt es dringenden Handlungsbedarf\", setzt sich das Paar auch daf\u00fcr ein, dass Eltern von Kindern mit Behinderung ihre Jobs nicht aufgeben m\u00fcssen, weil es an Betreuungspl\u00e4tzen mangelt. Y as\u00ed en una espiral armament\u00edstica.<\/p>\n\n\n\n
Bezug zur sechsj\u00e4hrigen Schwester stark sp\u00fcrbar<\/strong><\/p>\n\n\n\n
\u00a1Wie Familie C. ihr Leben meistert, ist bewundernswert! Und findet in den gl\u00fccklichen Augen ihres Sohnes den besten Ausdruck. Der beim Treffen mit der \"Krone\" immer wieder l\u00e4chelnd auf sein Spielzeug zeigt und \"Boot\" ruft. Incluso la conexi\u00f3n con su hermana Nyssa es dif\u00edcil. Mama Caroline l\u00e4chelt, wenn sie \u00fcber die beiden spricht: \"Nyssa geht unglaublich liebevoll mit Matteo um und sorgt sich um ihn. Wir haben den Eindruck, sie versteht manchmal besser als wir, was er gerade braucht.\"<\/p>\n\n\n\n
Proyecto de investigaci\u00f3n sobre MECP2<\/strong><\/p>\n\n\n\n
\u00bfQuieres saber m\u00e1s sobre Matteo y contribuir a la investigaci\u00f3n de su grave enfermedad gen\u00e9tica? P\u00f3ngase en contacto con sus padres:<\/p>\n\n\n\n
Cuenta de Instagram de Matteo: matteo_mds Correo electr\u00f3nico: matteo_mds@gmx.net<\/p>\n\n\n\n
Unterst\u00fctzung f\u00fcr Aktivit\u00e4ten mit den Kindern an Matteos Schule: Verein Karl Schubert Schule (IBAN : AT83 1100 0006 6197 9500, BIC : BKAUATWW)<\/p>","protected":false},"excerpt":{"rendered":"
MECP2-Genduplikation Syndrom erscheint in der Kronen Zeitung (Anja Richter) BUB (4) MIT GENDEFEKT \u201eDie Prognose f\u00fcr unser Kind macht uns Angst\u201c Kronen Zeitung. 30.05.2022 Dreieinhalb Jahre liefen Matteos Eltern im […]<\/p>","protected":false},"author":1,"featured_media":6689,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[56],"tags":[],"class_list":["post-7144","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medien"],"yoast_head":"\n
MECP2-Genduplikation erscheint in der 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\/es\/mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MECP2-Genduplikation erscheint in der Kronen Zeitung - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"MECP2-Genduplikation Syndrom erscheint in der Kronen Zeitung (Anja Richter) BUB (4) MIT GENDEFEKT \u201eDie Prognose f\u00fcr unser Kind macht uns Angst\u201c Kronen Zeitung. 30.05.2022 Dreieinhalb Jahre liefen Matteos Eltern im […]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dupmecp2.eu\/es\/mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung\/?lang=de\" \/>\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=\"2022-10-25T21:40:14+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=\"Escrito por\" \/>\n\t<meta name=\"twitter:data1\" content=\"Caroline\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/dupmecp2.eu\/mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung\/?lang=de#article\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung\/?lang=de\"},\"author\":{\"name\":\"Caroline\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/person\/b41e8cbba153cd974ee340386af279ee\"},\"headline\":\"MECP2-Genduplikation erscheint in der Kronen Zeitung\",\"datePublished\":\"2022-06-14T20:42:45+00:00\",\"dateModified\":\"2022-10-25T21:40:14+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung\/?lang=de\"},\"wordCount\":669,\"publisher\":{\"@id\":\"https:\/\/dupmecp2.eu\/#organization\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung\/?lang=de#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/06\/Screen-Shot-2022-06-12-at-12.50.34-PM-e1658323119765.jpg\",\"articleSection\":[\"Medien\"],\"inLanguage\":\"es\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/dupmecp2.eu\/mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung\/?lang=de\",\"url\":\"https:\/\/dupmecp2.eu\/mecp2-genduplikationssyndroms-erscheint-in-der-kronen-zeitung\/?lang=de\",\"name\":\"MECP2-Genduplikation erscheint in der Kronen Zeitung - 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