{"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\/pt\/individuals-with-lgmd-interviews\/2017\/06\/07\/jill\/","title":{"rendered":"INDIV\u00cdDUO COM LGMD: Jill"},"content":{"rendered":"

LGMD \"Entrevista em destaque\"<\/strong><\/p>\n

NOME:<\/strong> Jill IDADE: 42\"\"<\/a>
\nPA\u00cdS<\/strong>: EUA
\nLGMD Sub-tipo<\/strong>Distrofia muscular de Emery-Dreifuss autoss\u00f3mica dominante (muta\u00e7\u00e3o LMNA\/LGMD1B)<\/p>\n

COM QUE IDADE FOI DIAGNOSTICADO<\/strong>:
\nFoi-me diagnosticado quando tinha 4 anos de idade.<\/p>\n

QUAIS FORAM OS SEUS PRIMEIROS SINTOMAS:<\/strong>
\n\u00c0 nascen\u00e7a, era muito pequeno e as minhas tias lembram-se de achar que n\u00e3o tinha gordura e m\u00fasculos suficientes no rabo e nas pernas. As minhas primeiras etapas n\u00e3o eram dignas de nota; conseguia sentar-me, gatinhar, andar, etc. em idades adequadas. Quando entrei para o pr\u00e9-escolar, notou-se que ca\u00eda com muito mais frequ\u00eancia do que as outras crian\u00e7as e que tinha dificuldade em acompanhar os outros. Lembro-me de ter tido muita dificuldade em ficar de p\u00e9 numa \"casa insufl\u00e1vel\" numa feira, e tamb\u00e9m n\u00e3o gostava de carrinhos de choque porque tinha dificuldade em controlar a fraqueza do pesco\u00e7o.<\/p>\n

TEM OUTROS FAMILIARES QUE SOFREM DE LGMD:<\/strong>
\nO meu pai, dois irm\u00e3os e uma irm\u00e3 t\u00eam todos EDMD, mas com uma grande variedade de gravidade. Uma irm\u00e3 n\u00e3o est\u00e1 afetada. Suspeita-se que a minha av\u00f3 paterna e a minha bisav\u00f3 tamb\u00e9m tenham herdado esta doen\u00e7a, mas era t\u00e3o ligeira que nunca se aperceberam disso durante a sua vida.<\/p>\n

QUAIS S\u00c3O, NA SUA OPINI\u00c3O, OS MAIORES DESAFIOS DE VIVER COM LGMD:<\/strong>
\nSinto-me frustrado porque quero fazer as coisas que uma pessoa da minha idade deveria ser capaz de fazer sem grandes dificuldades. Por exemplo, manter as tarefas dom\u00e9sticas em dia \u00e9 um grande desafio e n\u00e3o consigo que a casa tenha o aspeto que imagino que deveria ter depois de trabalhar arduamente.<\/p>\n

QUAL \u00c9 A SUA MAIOR REALIZA\u00c7\u00c3O:<\/strong>
\nO meu maior feito foi ter descoberto o meu pr\u00f3prio diagn\u00f3stico quando era adolescente e ter informado o cardiologista do meu pai de que a nossa doen\u00e7a gen\u00e9tica exigia a implanta\u00e7\u00e3o de um pacemaker. Talvez isso lhe tenha salvado a vida quando ele tinha apenas 44 anos de idade. Deu-nos a oportunidade de o amar durante mais 18 anos.<\/p>\n

COMO \u00c9 QUE A LGMD O INFLUENCIOU A TORNAR-SE A PESSOA QUE \u00c9 HOJE?<\/strong>
\nFez-me aprender a confiar em mim pr\u00f3prio em vez de procurar os outros para resolver os meus problemas. Aprendi muito cedo que, quando se tem uma doen\u00e7a muito rara, \u00e9 preciso ser o nosso pr\u00f3prio defensor. Al\u00e9m disso, o facto de ter uma doen\u00e7a muscular fez com que me dedicasse muito \u00e0s actividades acad\u00e9micas. Estudei gen\u00e9tica durante a licenciatura e escrita criativa na p\u00f3s-gradua\u00e7\u00e3o. Sem as minhas conquistas no ensino superior, talvez tivesse dificuldade em descobrir o meu objetivo na vida.<\/p>\n

O QUE \u00c9 QUE QUER QUE O MUNDO SAIBA SOBRE A LGMD:<\/strong>
\nEm termos do que eu gostaria que as pessoas soubessem sobre a Emery-Dreifuss MD (EDMD), provavelmente gostaria que as pessoas soubessem que sou igual a qualquer outra pessoa por dentro. Sinto as mesmas dores, tenho os mesmos sonhos e, acima de tudo, s\u00f3 quero ser inclu\u00eddo em tudo o que h\u00e1 para experimentar na vida. Tenho um casamento feliz h\u00e1 quase 12 anos e criei um filho com 11 anos de idade e, acima de tudo, gostaria que as pessoas compreendessem que estes objectivos de vida podem ser alcan\u00e7ados por uma pessoa mesmo que n\u00e3o consiga andar.<\/p>\n

SE A SUA LGMD PUDESSE SER \"CURADA\" AMANH\u00c3, QUAL SERIA A PRIMEIRA COISA QUE GOSTARIA DE FAZER:<\/strong>
\nGostaria de defender a inclus\u00e3o da EDMD nos testes gen\u00e9ticos oferecidos aos rec\u00e9m-nascidos. O meu maior desejo \u00e9 n\u00e3o querer que uma gera\u00e7\u00e3o futura passe pelas dificuldades que eu passei, e a melhor altura para intervir \u00e9 \u00e0 nascen\u00e7a.<\/p>\n

Para ler mais \"LGMD Spotlight Interviews\" ou para se voluntariar para ser apresentado numa pr\u00f3xima entrevista, visite o nosso site em: https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>\n

<\/div>","protected":false},"excerpt":{"rendered":"

LGMD “Spotlight Interview” NAME: Jill AGE: 42 COUNTRY: USA LGMD […]<\/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":"\nINDIVIDUAL WITH LGMD: Jill - LGMD Awareness Foundation<\/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.lgmd-info.org\/pt\/individuals-with-lgmd-interviews\/2017\/06\/07\/jill\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Jill - 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