{"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\/pt\/individuals-with-lgmd-interviews\/2018\/05\/11\/anamaria\/","title":{"rendered":"INDIV\u00cdDUO COM LGMD: Anamaria"},"content":{"rendered":"<p><strong>LGMD \"ENTREVISTA EM DESTAQUE<\/strong><\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>NOME<\/strong>:  Anamaria \u00a0\u00a0\u00a0<strong>IDADE<\/strong>: 25 anos de idade<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>:  Rom\u00e9nia<\/p>\n<p><strong>LGMD Sub-tipo<\/strong>:  LGMD2A \/ Calpainopatia<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Com que idade foi diagnosticado<\/strong>:<\/p>\n<p>Foi-me diagnosticado este ano atrav\u00e9s de um teste gen\u00e9tico de \"sequencia\u00e7\u00e3o completa do exoma\".<\/p>\n<p><strong>Quais foram os seus primeiros sintomas<\/strong>:<\/p>\n<p>Os primeiros sintomas surgiram por volta dos 23 anos, quando tive vertigens, e todos os m\u00e9dicos me orientaram para verificar o ouvido interno. Vale ressaltar que fiz o teste cl\u00ednico com o neurologista, mas na \u00e9poca n\u00e3o tive nenhum problema. Com o passar do tempo comecei a subir escadas com dificuldade, a levantar-me desajeitadamente do ch\u00e3o ou da cadeira... Os m\u00e9dicos n\u00e3o conseguiram diagnosticar-me, mesmo depois de uma biopsia muscular. Disseram-me que tinha distrofia muscular e que tinha de fazer outros testes gen\u00e9ticos, mas n\u00e3o sabiam quais (a doen\u00e7a de Pompe e Duchenne\/Becker deram negativo). Por isso, comecei a procurar informa\u00e7\u00e3o e enviei as minhas an\u00e1lises para a Alemanha.  S\u00f3 a Centogen respondeu e mandaram-me para um geneticista.<\/p>\n<p><strong>Tem outros familiares que sofrem de LGMD:\u00a0 <\/strong><\/p>\n<p>N\u00e3o, sou a \u00fanica pessoa da minha fam\u00edlia a quem foi diagnosticada a LGMD2A.<\/p>\n<p><strong>Quais s\u00e3o, na sua opini\u00e3o, os maiores desafios de viver com a LGMD?<\/strong>:<\/p>\n<p>\u00c9 muito dif\u00edcil que, aos 25 anos de idade, o maior desafio seja pensar que se pode subir escadas sozinho. Sou da Rom\u00e9nia e, apesar de ser um pa\u00eds da Uni\u00e3o Europeia, \u00e9 um pa\u00eds pobre e n\u00e3o temos condi\u00e7\u00f5es para quem tem problemas e, quando as pessoas me v\u00eaem a subir escadas de forma diferente, olham para mim com desconfian\u00e7a, \u00e0s vezes perguntam porque \u00e9 que eu subo assim... Outro desafio seria que, quando caio, n\u00e3o consigo levantar-me. \u00c9 dif\u00edcil estar sempre a depender de algu\u00e9m ...<\/p>\n<p><strong>Qual \u00e9 a sua maior realiza\u00e7\u00e3o<\/strong>:<\/p>\n<p>Que acordo de manh\u00e3 e consigo respirar e andar.<\/p>\n<p><strong>Como \u00e9 que a LGMD o influenciou a tornar-se a pessoa que \u00e9 hoje? \u00a0<\/strong><\/p>\n<p>Li todas as entrevistas de quem tem a mesma doen\u00e7a que eu e reparei que toda a gente acha que ficou com uma vers\u00e3o melhor de si, mas comigo, acho que foi ao contr\u00e1rio. Tornei-me uma pessoa com muitos medos.  Por exemplo, at\u00e9 tenho medo das escadas do comboio, porque s\u00e3o muito altas...<\/p>\n<p><strong>O que quer que o mundo saiba sobre a LGMD<\/strong>:<\/p>\n<p>Para come\u00e7ar, quero que o mundo conhe\u00e7a a Rom\u00e9nia e o facto de ser muito dif\u00edcil para n\u00f3s ter um diagn\u00f3stico. Somos um pa\u00eds pobre. Sabem qual \u00e9 o sal\u00e1rio m\u00ednimo no nosso pa\u00eds? 266 euros. Sabes quanto \u00e9 que eu pago s\u00f3 pelo teste gen\u00e9tico? 1.660 euros... A minha investiga\u00e7\u00e3o sugere que h\u00e1 muitas pessoas com distrofia muscular na Rom\u00e9nia, mas que n\u00e3o t\u00eam dinheiro para ir ao m\u00e9dico e, especialmente, para fazer testes gen\u00e9ticos. Gostaria que aqueles que trabalham nos ensaios cl\u00ednicos deixassem de dizer que n\u00e3o trabalham com pessoas da Rom\u00e9nia ...<\/p>\n<p><strong>Se a sua LGMD pudesse ser \"curada\" amanh\u00e3, qual seria a primeira coisa que gostaria de fazer?<\/strong>:<\/p>\n<p>Sem d\u00favida que me candidataria e depois tentaria ajudar o maior n\u00famero poss\u00edvel de pessoas a terem acesso a tratamento.<\/p>\n<p>&nbsp;<\/p>\n<p>*** Por favor, GOSTEI, COMENTEI e PARTILHEI esta publica\u00e7\u00e3o para ajudar a aumentar a sensibiliza\u00e7\u00e3o para a LGMD!<br \/>\n*** Para ler mais \"LGMD Spotlight Interviews\" ou para se voluntariar para uma pr\u00f3xima entrevista, por favor visite o nosso website em <a href=\"https:\/\/www.lgmd-info.org\/pt\/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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