{"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":"un-periodico-aleman-rtl-habla-del-sindrome-de-duplicacion-mecp2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/en\/un-periodico-aleman-rtl-habla-del-sindrome-de-duplicacion-mecp2\/","title":{"rendered":"Un peri\u00f3dico alem\u00e1n (RTL) habla del s\u00edndrome de duplicaci\u00f3n MeCP2"},"content":{"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).<\/p>\n\n<p>Here you will find a translation of the article. Translated from German by Karyn Lebescont. <\/p>\n\n<p><\/p>\n\n<p>El diagn\u00f3stico correcto tard\u00f3 una eternidad. <\/p>\n\n<p><strong>\"CASI PERDEMOS A MATTEO TRES VECES\": MATTEO (4 YEARS OLD) HAS A RARE GENETIC DISEASE<\/strong> <\/p>\n\n<p>Escrito por 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 y su familia \u00a9 RTL <\/figcaption><\/figure>\n\n<p>El peque\u00f1o Matteo, de Viena, s\u00f3lo tiene cuatro a\u00f1os, pero ya ha pasado por muchos hospitales y m\u00e9dicos. \"El Contrajo todas estas infecciones y tuvimos que llevarlo al hospital cada dos semanas\", cuenta David C. a RTL. \"En sus dos primeros a\u00f1os de vida, casi perdemos a Matteo tres veces\". At that point, \u00e9l and his wife Caroline realised that something was wrong with their son. \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 years old) has a rare genetic disorder \u00a9 rtl.de<\/figcaption><\/figure>\n\n<p>Cuando Matteo naci\u00f3 en mayo de 2018, todo parec\u00eda ir bien, pero sus padres, ambos cient\u00edficos y qu\u00edmicos de la industria farmac\u00e9utica, no tardaron en sospechar. \"S\u00f3lo se ha retrasado un poco\", dicen los m\u00e9dicos, ya que Matteo no camin\u00f3 hasta los 28 meses. David and Caroline C. don't think they're being vindictive and want to find out for themselves what happened to their son. 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\">El peque\u00f1o Matteo en casa \u00a9 rtl.de <\/figcaption><\/figure>\n\n<p>Pero el diagn\u00f3stico tambi\u00e9n fue terrible: en agosto de 2021, tres a\u00f1os y medio despu\u00e9s del nacimiento de Matteo cay\u00f3 el veredicto: al peque\u00f1o que ahora tiene cuatro a\u00f1os le diagnosticaron un raro defecto gen\u00e9tico llamado s\u00edndrome de duplicaci\u00f3n 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. A cerebral protein, which controls other proteins, is duplicated in Matteo. This has an impact on his intellectual and physical development, explains his mother Caroline about her son's genetic defect: \"Matteo doesn't understand or feel everything. He can only say a few words\". <\/p>\n\n<p><strong>Los padres vivieron una aut\u00e9ntica odisea <\/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 en un banco \u00a9 rtl.de <\/figcaption><\/figure>\n\n<p>However, the worst thing for their fathers, who live in Vienna, is the prognosis for their son's future: 50% sufferers experience epileptic attacks between their seventh and ninth birthdays; after that, the abilities they have acquired, such as walking, tend to deteriorate rapidly. Only half of affected children are over 25 years old. <\/p>\n\n<p>\"As scientists, we have a good understanding of what the doctors tell us. But how do other parents feel when they hear all these complicated technical terms without explanation? Los padres, ambos cient\u00edficos en puestos de responsabilidad, est\u00e1n familiarizados con el campo de la medicina. However, for them it has been a never-ending battle: from doctor to doctor, facing perplexity and indifference. <\/p>\n\n<p><strong>Conseguir guarder\u00eda es un reto <\/strong><\/p>\n\n<p>En Instagram, la familia intenta a trav\u00e9s de la cuenta @matteo_mds llamar la atenci\u00f3n sobre esta enfermedad rara y tambi\u00e9n encontrar otras familias afectadas para compartir y apoyarse mutuamente. <\/p>\n\n<p>Matteo consigui\u00f3 una de las pocas plazas en guarder\u00edas para ni\u00f1os discapacitados de Viena. Puede ponerse de pie, andar, re\u00edr y decir algunas palabras, no tiene ataques epil\u00e9pticos y sus padres esperan que dure el mayor tiempo posible. <\/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\/en\/un-periodico-aleman-rtl-habla-del-sindrome-de-duplicacion-mecp2\/?lang=es\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\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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