{"id":1567,"date":"2024-02-08T06:06:43","date_gmt":"2024-02-08T06:06:43","guid":{"rendered":"https:\/\/www.asebier.org\/?p=1567"},"modified":"2024-02-08T06:06:44","modified_gmt":"2024-02-08T06:06:44","slug":"desafiando-lo-inimaginable-el-coraje-de-magdalena-dabrowska-ante-el-sindrome-de-myrhe","status":"publish","type":"post","link":"https:\/\/www.asebier.org\/?p=1567","title":{"rendered":"\u00abDesafiando lo inimaginable: El coraje de Magdalena Dabrowska ante el S\u00edndrome de Myrhe\u00bb"},"content":{"rendered":"\n<p>Magdalena Dabrowska Ciesly ,nacida en la ciudad polaca de Rad\u00f3n, vive en Legazpi desde los 3 a\u00f1os. Magda, que hoy tiene 23 a\u00f1os, trabaja en la <a href=\"https:\/\/www.gureakindustrial.com\/es\/\" target=\"_blank\" rel=\"noreferrer noopener\">factor\u00eda Gureak<\/a> y quiere presentarse a la sociedad porque padece una enfermedad ultra rara y le gustar\u00eda darla a conocer.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignright size-large is-resized\"><img fetchpriority=\"high\" decoding=\"async\" width=\"768\" height=\"1024\" src=\"https:\/\/www.asebier.org\/wp-content\/uploads\/2024\/02\/22549BFB-E57F-4618-BBF3-2F7137D305D4-768x1024.jpg\" alt=\"\" class=\"wp-image-1576\" style=\"width:378px;height:auto\" srcset=\"https:\/\/www.asebier.org\/wp-content\/uploads\/2024\/02\/22549BFB-E57F-4618-BBF3-2F7137D305D4-768x1024.jpg 768w, https:\/\/www.asebier.org\/wp-content\/uploads\/2024\/02\/22549BFB-E57F-4618-BBF3-2F7137D305D4-225x300.jpg 225w, https:\/\/www.asebier.org\/wp-content\/uploads\/2024\/02\/22549BFB-E57F-4618-BBF3-2F7137D305D4.jpg 1023w\" sizes=\"(max-width: 768px) 100vw, 768px\" \/><\/figure>\n<\/div>\n\n\n<p>Magda sufre el&nbsp;<a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Expert=2588&amp;lng=ES#:~:text=Es%20un%20s%C3%ADndrome%20poco%20frecuente,hipoacusia%20y%20discapacidad%20intelectual%20variable.\" rel=\"noreferrer noopener\" target=\"_blank\">s\u00edndrome de Myrhe<\/a>. En todo el mundo s\u00f3lo 200 personas est\u00e1n diagnosticadas con este s\u00edndrome, y en Espa\u00f1a s\u00f3lo 13. Ella es la \u00fanica en el Pa\u00eds Vasco. Se trata de una enfermedad rara que afecta al 0,05% de la poblaci\u00f3n, es decir, s\u00f3lo a cinco de cada 10.000 personas, por eso,&nbsp; el S\u00edndrome de Myrhe es considerada una enfermedad ultra rara.<\/p>\n\n\n\n<p>En Espa\u00f1a existe la\u00a0<a href=\"https:\/\/www.somospacientes.com\/asociacion-sindrome-de-myhre-espana-asme\/\" target=\"_blank\" rel=\"noreferrer noopener\">Asociaci\u00f3n del S\u00edndrome de Myhre Espa\u00f1a \u2013 ASME\u00a0<\/a>y Magda es una de las portavoces. El objetivo de la asociaci\u00f3n es dar a conocer el s\u00edndrome a la sociedad y a la comunidad sanitaria. Tambi\u00e9n quieren sensibilizar sobre la enfermedad y conseguir medios para la investigaci\u00f3n ya que es muy importante garantizar un diagn\u00f3stico precoz y un tratamiento adecuado.<\/p>\n\n\n\n<p><strong>Dolencia con m\u00faltiples s\u00edntomas<\/strong><\/p>\n\n\n\n<p>El s\u00edndrome de Myrhe es una enfermedad gen\u00e9tica causada por la mutaci\u00f3n del gen llamado SMAD4. No es hereditaria, surge por casualidad, y puede presentar numerosos s\u00edntomas. A Magda le diagnosticaron la enfermedad cuando ten\u00eda 19 a\u00f1os. Estuvo todo ese tiempo visitando m\u00e9dicos de familia sin obtener un diagn\u00f3stico claro , as\u00ed que,  finalmente la joven fue enviada a Madrid para realizarse una prueba gen\u00e9tica que por fin dio respuesta a su incertidumbre.<\/p>\n\n\n\n<p>El s\u00edndrome de Myhere es una anomal\u00eda cong\u00e9nita m\u00faltiple caracterizada por estatura baja, dismorfismo facial distintivo, braquidactilia, piel r\u00edgida y gruesa, pseudohipertrofia muscular, movilidad articular limitada, p\u00e9rdida de audici\u00f3n y retraso mental variable, discapacidad visual, autismo conductal, TDAH, estereot\u00edpia, problemas respiratorios, problemas cardiovasculares y problemas digestivos.<\/p>\n\n\n\n<p>Algunos de estos s\u00edntomas son bastante visibles, Magda, por ejemplo, es de estatura baja y tiene una marcha especial, adem\u00e1s de problemas articulares que a veces le producen mucho dolor. Sufre tambi\u00e9n dismorfia facial y pr\u00f3ximamente ser\u00e1 intervenida para corregir la mand\u00edbula. Por el contrario, no son tan evidentes los problemas respiratorios que presenta, los auditivos o los visuales, adem\u00e1s de una discapacidad intelectual leve.&nbsp;<\/p>\n\n\n\n<p>Magda confiesa que tener esa enfermedad es muy duro porque le pone peque\u00f1as limitaciones para el d\u00eda a d\u00eda, pero ella no se deja intimidar, y es capaz de hacer una vida normal. Le encanta practicar yoga, ir a clases de Zumba o incluso jugar partidos de Rugby inclusivo. Ir al monte o participar en actividades de deporte popular son tambi\u00e9n algunas de las actividades que Magda realiza siempre rodeada de amigos. Adem\u00e1s de todo esto estudia para preparar oposiciones.<\/p>\n\n\n\n<p>La historia de Magdalena Dabrowska destaca por su valent\u00eda y determinaci\u00f3n ante una enfermedad ultra rara que afecta a tan solo unas pocas personas en el mundo. A pesar de los desaf\u00edos f\u00edsicos y emocionales a los que se enfrenta diariamente, Magda se ha convertido en una voz destacada . Su dedicaci\u00f3n para dar a conocer esta enfermedad, sensibilizar a la sociedad y contribuir a la investigaci\u00f3n es un testimonio inspirador de resiliencia. Magda no solo busca mejorar su propia calidad de vida, sino tambi\u00e9n la de aquellos que comparten esta condici\u00f3n \u00fanica. Su historia nos recuerda la importancia de la conciencia, la solidaridad y la perseverancia frente a las adversidades, al tiempo que aboga por la inclusi\u00f3n y la comprensi\u00f3n hacia las enfermedades ultra raras.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Magdalena Dabrowska Ciesly ,nacida en la ciudad polaca de Rad\u00f3n, vive en Legazpi desde los 3 a\u00f1os. Magda, que hoy tiene 23 a\u00f1os, trabaja en la factor\u00eda Gureak y quiere&hellip;&nbsp;<a href=\"https:\/\/www.asebier.org\/?p=1567\" class=\"\" rel=\"bookmark\">Leer m\u00e1s &raquo;<span class=\"screen-reader-text\">\u00abDesafiando lo inimaginable: El coraje de Magdalena Dabrowska ante el S\u00edndrome de Myrhe\u00bb<\/span><\/a><\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"neve_meta_sidebar":"","neve_meta_container":"","neve_meta_enable_content_width":"","neve_meta_content_width":0,"neve_meta_title_alignment":"","neve_meta_author_avatar":"","neve_post_elements_order":"","neve_meta_disable_header":"","neve_meta_disable_footer":"","neve_meta_disable_title":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-1567","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>&quot;Desafiando lo inimaginable: El coraje de Magdalena Dabrowska ante el S\u00edndrome de Myrhe&quot; - ASEBIER<\/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:\/\/www.asebier.org\/?p=1567\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"&quot;Desafiando lo inimaginable: El coraje de Magdalena Dabrowska ante el S\u00edndrome de Myrhe&quot; - ASEBIER\" \/>\n<meta property=\"og:description\" content=\"Magdalena Dabrowska Ciesly ,nacida en la ciudad polaca de Rad\u00f3n, vive en Legazpi desde los 3 a\u00f1os. 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