{"id":1945,"date":"2018-05-11T10:07:41","date_gmt":"2018-05-11T15:07:41","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1945"},"modified":"2018-05-11T10:07:41","modified_gmt":"2018-05-11T15:07:41","slug":"anamaria","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/es\/individuals-with-lgmd-interviews\/2018\/05\/11\/anamaria\/","title":{"rendered":"INDIVIDUO CON LGMD: Anamaria"},"content":{"rendered":"<p><strong>LGMD \"ENTREVISTA EN PRIMER PLANO'<\/strong><\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>NOMBRE<\/strong>:  Anamaria \u00a0\u00a0\u00a0<strong>EDAD<\/strong>25 a\u00f1os<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2018\/05\/LGMD2A-Anamaria-G-.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1944 alignright\" src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%27http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%27%20width%3D%27300%27%20height%3D%27169%27%20viewBox%3D%270%200%20300%20169%27%3E%3Crect%20width%3D%27300%27%20height%3D%27169%27%20fill-opacity%3D%220%22%2F%3E%3C%2Fsvg%3E\" data-orig-src=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2018\/05\/LGMD2A-Anamaria-G--300x169.png\" alt=\"\" width=\"300\" height=\"169\" \/><\/a><\/p>\n<p><strong>PA\u00cdS<\/strong>:  Ruman\u00eda<\/p>\n<p><strong>Subtipo LGMD<\/strong>:  LGMD2A \/ Calpainopat\u00eda<\/p>\n<p>&nbsp;<\/p>\n<p><strong>\u00bfA qu\u00e9 edad le diagnosticaron<\/strong>:<\/p>\n<p>Me diagnosticaron este a\u00f1o mediante las pruebas gen\u00e9ticas de \"secuenciaci\u00f3n del exoma completo\".<\/p>\n<p><strong>\u00bfCu\u00e1les fueron sus primeros s\u00edntomas?<\/strong>:<\/p>\n<p>Los primeros s\u00edntomas aparecieron alrededor de los 23 a\u00f1os, cuando tuve v\u00e9rtigo, y todos los m\u00e9dicos me orientaron para que me revisara el o\u00eddo interno. Cabe mencionar que hice la prueba cl\u00ednica con el neur\u00f3logo, pero en ese momento no ten\u00eda ning\u00fan problema. Con el tiempo empec\u00e9 a subir escaleras con dificultad, a levantarme torpemente del suelo o de la silla... Los m\u00e9dicos no han sabido diagnosticarme, ni siquiera despu\u00e9s de una biopsia muscular. Me dijeron que ten\u00eda distrofia muscular y que ten\u00eda que hacer otras pruebas gen\u00e9ticas, pero no sab\u00edan qu\u00e9 pruebas (enfermedad de Pompe y Duchenne \/ Becker fueron negativos). As\u00ed que empec\u00e9 a buscar informaci\u00f3n y envi\u00e9 mis an\u00e1lisis a Alemania.  S\u00f3lo Centogen respuesta y me enviaron a un genetista.<\/p>\n<p><strong>\u00bfTiene otros familiares que padezcan LGMD?\u00a0 <\/strong><\/p>\n<p>No, soy la \u00fanica persona de mi familia diagnosticada de LGMD2A.<\/p>\n<p><strong>\u00bfCu\u00e1les crees que son los mayores retos de vivir con LGMD?<\/strong>:<\/p>\n<p>Es muy dif\u00edcil que a los 25 a\u00f1os el mayor reto sea pensar que puedes subir escaleras por ti mismo. Soy de Ruman\u00eda y aunque es un pa\u00eds de la Uni\u00f3n Europea, es un pa\u00eds pobre y no tenemos condiciones para los que tienen problemas y cuando la gente me ve subir escaleras de forma diferente me miran con desconfianza, a veces les preguntan por qu\u00e9 subo as\u00ed... Otro reto ser\u00eda que cuando me caigo, no puedo levantarme sola. Es dif\u00edcil depender siempre de alguien...<\/p>\n<p><strong>\u00bfCu\u00e1l es su mayor logro?<\/strong>:<\/p>\n<p>Que me levanto por la ma\u00f1ana y puedo respirar y caminar.<\/p>\n<p><strong>\u00bfC\u00f3mo le ha influido la LGMD para convertirse en la persona que es hoy? \u00a0<\/strong><\/p>\n<p>He le\u00eddo todas las entrevistas de los que tienen la misma enfermedad que yo y me he dado cuenta de que todos piensan que han conseguido una mejor versi\u00f3n de s\u00ed mismos, pero conmigo creo que fue al rev\u00e9s. Me convert\u00ed en una persona con muchos miedos.  Por ejemplo, tengo miedo hasta de las escaleras del tren, porque son muy altas...<\/p>\n<p><strong>\u00bfQu\u00e9 quiere que el mundo sepa sobre la LGMD?<\/strong>:<\/p>\n<p>Para empezar, quiero que el mundo conozca Ruman\u00eda y el hecho de que para nosotros es muy dif\u00edcil tener un diagn\u00f3stico. Somos un pa\u00eds pobre. \u00bfSabes cu\u00e1l es el salario m\u00ednimo en nuestro pa\u00eds? 266 euros. \u00bfSabes cu\u00e1nto pago s\u00f3lo por la prueba gen\u00e9tica? 1.660 euros... Mi investigaci\u00f3n sugiere que hay muchas personas con distrofia muscular en Ruman\u00eda, pero no pueden permitirse ir al m\u00e9dico y, sobre todo, hacerse las pruebas gen\u00e9ticas. Me gustar\u00eda que los que trabajan en los ensayos cl\u00ednicos dejaran de decir que no trabajan con personas de Ruman\u00eda ...<\/p>\n<p><strong>Si su LGMD pudiera \"curarse\" ma\u00f1ana, \u00bfqu\u00e9 ser\u00eda lo primero que desear\u00eda hacer?<\/strong>:<\/p>\n<p>Sin duda me presentar\u00eda y luego intentar\u00eda ayudar al mayor n\u00famero posible de personas para que tuvieran acceso al tratamiento.<\/p>\n<p>&nbsp;<\/p>\n<p>*** Por favor, dale al LIKE, COMENTA y COMPARTE este post para ayudar a concienciar sobre la LGMD.<br \/>\n*** Para leer m\u00e1s \"LGMD Spotlight Interviews\" o presentarse voluntario para una pr\u00f3xima entrevista, visite nuestro sitio web en <a href=\"https:\/\/www.lgmd-info.org\/es\/spotlight-interviews\/\">https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>LGMD \u201cSPOTLIGHT INTERVIEW\u2019 \u00a0 NAME:\u00a0 Anamaria \u00a0\u00a0\u00a0AGE:\u00a0 25 years old [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1944,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,14],"tags":[97],"class_list":["post-1945","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2a","tag-lgmd2a-romania"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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