{"id":1463,"date":"2017-06-07T10:06:12","date_gmt":"2017-06-07T15:06:12","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1463"},"modified":"2017-06-07T10:06:12","modified_gmt":"2017-06-07T15:06:12","slug":"jill","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/es\/individuals-with-lgmd-interviews\/2017\/06\/07\/jill\/","title":{"rendered":"INDIVIDUO CON LGMD: Jill"},"content":{"rendered":"<p><strong>LGMD \"Entrevista en primer plano\"<\/strong><\/p>\n<p><strong>NOMBRE:<\/strong> Jill EDAD: 42<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2017\/06\/LGMD1B-Jill-V.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1462 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\/2017\/06\/LGMD1B-Jill-V-300x169.png\" alt=\"\" width=\"300\" height=\"169\" \/><\/a><br \/>\n<strong>PA\u00cdS<\/strong>: EE.UU.<br \/>\n<strong>Subtipo LGMD<\/strong>: distrofia muscular de Emery-Dreifuss autos\u00f3mica dominante (mutaci\u00f3n LMNA\/LGMD1B)<\/p>\n<p><strong>A QU\u00c9 EDAD LE DIAGNOSTICARON<\/strong>:<br \/>\nMe diagnosticaron cuando ten\u00eda 4 a\u00f1os.<\/p>\n<p><strong>CU\u00c1LES FUERON SUS PRIMEROS S\u00cdNTOMAS:<\/strong><br \/>\nEra delgada al nacer, y mis t\u00edas recuerdan que pensaban que no ten\u00eda suficiente grasa ni m\u00fasculos en el trasero y las piernas. Mis primeros hitos no fueron destacables; era capaz de sentarme, gatear, andar, etc. a edades apropiadas. Al entrar en preescolar, se observ\u00f3 que me ca\u00eda con mucha m\u00e1s frecuencia que los dem\u00e1s ni\u00f1os y que ten\u00eda dificultades para seguir el ritmo de los dem\u00e1s. Recuerdo que ten\u00eda grandes dificultades para mantenerme erguido en un \"castillo hinchable\" en una feria, y tampoco me gustaban los coches de choque porque ten\u00eda dificultades con la debilidad del cuello.<\/p>\n<p><strong>\u00bfTIENE OTROS MIEMBROS DE LA FAMILIA QUE PADEZCAN ALGODISTROFIA?<\/strong><br \/>\nTanto mi padre como mis dos hermanos y una hermana padecen EDMD, pero con una gran variedad de grados de gravedad. Una hermana no est\u00e1 afectada. Se sospecha que mi abuela paterna y mi bisabuela tambi\u00e9n heredaron este trastorno, pero era tan leve que nunca lo supieron en vida.<\/p>\n<p><strong>\u00bfCU\u00c1LES CREE QUE SON LOS MAYORES RETOS DE VIVIR CON LA VGMD:<\/strong><br \/>\nMe frustro porque quiero hacer las cosas que alguien de mi edad deber\u00eda poder hacer sin grandes dificultades. Por ejemplo, mantener el ritmo de las tareas dom\u00e9sticas es todo un reto, y no acabo con la casa con el aspecto que imagino que deber\u00eda tener despu\u00e9s de trabajar duro.<\/p>\n<p><strong>\u00bfCU\u00c1L ES SU MAYOR LOGRO?<\/strong><br \/>\nMi mayor logro fue descubrir mi propio diagn\u00f3stico cuando era adolescente e informar al cardi\u00f3logo de mi padre de que nuestro trastorno gen\u00e9tico requer\u00eda la implantaci\u00f3n de un marcapasos. Quiz\u00e1 esto le salv\u00f3 la vida cuando solo ten\u00eda 44 a\u00f1os. Nos dio la oportunidad de amarle otros 18 a\u00f1os.<\/p>\n<p><strong>\u00bfC\u00d3MO TE HA INFLUIDO LA ALGMD PARA CONVERTIRTE EN LA PERSONA QUE ERES HOY?<\/strong><br \/>\nMe hizo aprender a confiar en m\u00ed misma en lugar de buscar a los dem\u00e1s para resolver mis problemas. Aprend\u00ed muy pronto que si tienes una enfermedad muy rara, vas a tener que convertirte en tu propio defensor. Adem\u00e1s, padecer una enfermedad muscular me hizo dedicarme con ah\u00ednco a los estudios. Estudi\u00e9 gen\u00e9tica en la licenciatura y escritura creativa en el posgrado. Sin mis logros en la ense\u00f1anza superior, quiz\u00e1 me costar\u00eda descubrir cu\u00e1l es mi prop\u00f3sito en la vida.<\/p>\n<p><strong>\u00bfQU\u00c9 QUIERE QUE EL MUNDO SEPA SOBRE LA DGM?<\/strong><br \/>\nEn cuanto a lo que me gustar\u00eda que la gente supiera sobre la DM Emery-Dreifuss (EDMD), probablemente me gustar\u00eda que la gente supiera que soy igual que cualquier otra persona por dentro. Me duelen las mismas cosas, tengo los mismos sue\u00f1os y, sobre todo, quiero participar en todas las experiencias de la vida. Llevo casi 12 a\u00f1os felizmente casada, he criado a un hijo de 11 a\u00f1os y, sobre todo, me gustar\u00eda que la gente entendiera que una persona puede alcanzar estos objetivos aunque no pueda andar.<\/p>\n<p><strong>SI SU ALGMD PUDIERA \"CURARSE\" MA\u00d1ANA, \u00bfQU\u00c9 SER\u00cdA LO PRIMERO QUE DESEAR\u00cdA HACER?<\/strong><br \/>\nMe gustar\u00eda abogar por que la EDMD se incluyera en las pruebas gen\u00e9ticas que se ofrecen a los reci\u00e9n nacidos. Mi mayor deseo es que no quiero que una generaci\u00f3n futura pase por las dificultades que yo pas\u00e9, y el mejor momento para intervenir es el nacimiento.<\/p>\n<p>Para leer m\u00e1s \"LGMD Spotlight Interviews\" o presentarse voluntario para una pr\u00f3xima entrevista, visite nuestro sitio web: <a href=\"https:\/\/www.lgmd-info.org\/es\/spotlight-interviews\/\" target=\"_blank\" rel=\"nofollow noopener noreferrer\">https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>\n<div><\/div>","protected":false},"excerpt":{"rendered":"<p>LGMD &#8220;Spotlight Interview&#8221; NAME: Jill AGE: 42 COUNTRY: USA LGMD [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1462,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,44],"tags":[74,43,16],"class_list":["post-1463","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd1b","tag-emery-dreifuss","tag-lgmd1b","tag-united-states"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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