{"id":1138,"date":"2016-01-30T12:59:17","date_gmt":"2016-01-30T18:59:17","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1138"},"modified":"2016-01-30T12:59:17","modified_gmt":"2016-01-30T18:59:17","slug":"thomas","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/es\/individuals-with-lgmd-interviews\/2016\/01\/30\/thomas\/","title":{"rendered":"INDIVIDUO CON LGMD: Thomas"},"content":{"rendered":"<p>01\/30\/2016<\/p>\n<p><strong>LGMD \"Primer plano\"<\/strong><\/p>\n<p><strong>Nombre<\/strong>:  Thomas\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 <strong>AG<\/strong>E: 31<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2016\/01\/LGMD2B-Thomas.png\" rel=\"attachment wp-att-1139\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1139 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\/2016\/01\/LGMD2B-Thomas-300x169.png\" alt=\"LGMD2B - Thomas\" width=\"300\" height=\"169\" \/><\/a><\/p>\n<p><strong>PA\u00cdS<\/strong>: Suiza<\/p>\n<p><strong>Subtipo LGMD<\/strong>: LGMD 2B \/ Miopat\u00eda de Miyoshi<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>\u00bfA qu\u00e9 edad le diagnosticaron<\/strong>:<\/p>\n<p>Mi primer diagn\u00f3stico (biopsia) fue a los 28 a\u00f1os, seguido de la prueba con test gen\u00e9tico un a\u00f1o despu\u00e9s.<\/p>\n<p><strong>\u00bfCu\u00e1les fueron sus primeros s\u00edntomas?<\/strong>:<\/p>\n<p>No es tan f\u00e1cil decirlo. Ahora s\u00e9 d\u00f3nde tengo que mirar, me han venido muchos ejemplos a la memoria; en mi infancia ten\u00edamos una escalera muy empinada alrededor de casa, por la que siempre me costaba subir porque los escalones eran muy cortos. En la adolescencia empec\u00e9 a practicar snowboard, pero no era capaz de ejercer mucha presi\u00f3n sobre el borde delantero de la tabla. De joven no pod\u00eda saltar al ritmo de la m\u00fasica en las discotecas. A los 24 \/ 25 a\u00f1os me di cuenta de que no era capaz de ponerme de puntillas y que mis m\u00fasculos de la pantorrilla eran inexistentes. En los \u00faltimos a\u00f1os he visto que se me acortan los m\u00fasculos de las piernas y los brazos.<\/p>\n<p>A los 18 a\u00f1os mi m\u00e9dico me dijo que ten\u00eda valores demasiado altos de creatina cinasa en la sangre. Estaba en torno a 250 - 300, demasiado bajo para enfermedades conocidas y demasiado alto para ser normal. Ahora s\u00e9 que \u00e9ste fue el primer indicador m\u00e9dico de Miyoshi.<\/p>\n<p><strong>\u00bfTiene otros familiares que padezcan LGMD?<\/strong><\/p>\n<p>S\u00ed, mi hermana tambi\u00e9n tiene LGMD. Sus s\u00edntomas (ponerse de puntillas, creatina cinasa) son los mismos, pero ella parece estar menos afectada.<\/p>\n<p><strong>\u00bfCu\u00e1les crees que son los mayores retos de vivir con LGMD?<\/strong>:<\/p>\n<p>En mi opini\u00f3n, \u00a1el mayor reto es aceptar este desaf\u00edo! Al principio, despu\u00e9s del diagn\u00f3stico, fue dif\u00edcil aceptarlo. Necesitas fuerza psicol\u00f3gica para afrontarlo. Tambi\u00e9n cuando miras el curso de la enfermedad, no sobrevalorar ni infravalorar los s\u00edntomas y los efectos. Al mirar hacia el futuro, siempre tienes que planificar las cosas teniendo en cuenta la LGMD (quiz\u00e1 necesites una silla de ruedas dentro de 5, 7 o 10 a\u00f1os).<\/p>\n<p><strong>\u00bfCu\u00e1l es su mayor logro?<\/strong>:<\/p>\n<p>Aceptar la LGMD y disfrutar haciendo cosas que no podr\u00e9 hacer en el futuro.<\/p>\n<p><strong>\u00bfC\u00f3mo le ha influido la LGMD para convertirse en la persona que es hoy?<\/strong><\/p>\n<p>El diagn\u00f3stico me lleg\u00f3 justo al principio del m\u00e1ster. Adem\u00e1s de estudiar la carrera y el m\u00e1ster (a tiempo completo), trabajaba los fines de semana y durante las vacaciones escolares. Ahora trabajo a tiempo parcial y tengo un buen motivo para disfrutar de mi tiempo libre con mi mujer, nuestros perros y nuestro jard\u00edn. Ahora valoro m\u00e1s lo que tengo.<\/p>\n<p><strong>\u00bfQu\u00e9 quiere que el mundo sepa sobre la LGMD?<\/strong>:<\/p>\n<p>Que existe. Creo que hay muchos casos no registrados de LGMD.<\/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>Acabo de perder mi carn\u00e9 de conducir camiones y autocares por culpa de Miyoshi. No s\u00f3lo era un trabajo para financiar mis estudios, tambi\u00e9n era mi afici\u00f3n. As\u00ed que lo recuperaba y conduc\u00eda por ah\u00ed.<\/p>\n<p>&nbsp;<\/p>\n<p>Para leer m\u00e1s \"LGMD Spotlight Interviews\" o presentarse voluntario para una pr\u00f3xima entrevista, visite nuestro sitio web: https:\/\/www.lgmd-info.org\/spotlight-interviews<\/p>\n<p>&nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>01\/30\/2016 LGMD \u201cSpotlight interview\u201d Name:\u00a0 Thomas\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 AGE: 31 COUNTRY: Switzerland [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1139,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,22],"tags":[23,55,58],"class_list":["post-1138","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2b","tag-lgmd2b","tag-miyoshi-myopathy","tag-switzerland"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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