{"id":7666,"date":"2023-04-02T16:22:56","date_gmt":"2023-04-02T16:22:56","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=7666"},"modified":"2024-02-09T14:23:49","modified_gmt":"2024-02-09T14:23:49","slug":"individual-with-lgmd-jacob","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pt\/lgmd2d\/2023\/04\/02\/individual-with-lgmd-jacob\/","title":{"rendered":"INDIV\u00cdDUO COM LGMD: Jacob"},"content":{"rendered":"

\"<\/strong><\/p>\n

Nome<\/strong>: Jacob<\/p>\n

Idade<\/strong>: 6 anos de idade<\/p>\n

Pa\u00eds<\/strong>: Estados Unidos<\/p>\n

LGMD Sub-tipo<\/strong>: LGMD2D \/ R3<\/p>\n

* * * Completada pelos pais de Jacob, Josh e Rachel<\/em><\/p>\n

Com que idade foi diagnosticado<\/strong>?<\/p>\n

Jacob foi diagnosticado com LGMD2D \/ R3 quando tinha 5 anos de idade.<\/p>\n

\u00a0<\/strong>Quais foram os seus primeiros sintomas?<\/strong><\/p>\n

Descobrimos o diagn\u00f3stico do Jacob depois de um caso de rabdomi\u00f3lise durante o ver\u00e3o de 2021. Atualmente, os seus principais sintomas s\u00e3o sinais ocasionais de rabdomi\u00f3lise, incluindo urina escura, e as pernas come\u00e7am a doer quando est\u00e1 demasiado ativo sem uma hidrata\u00e7\u00e3o significativa.<\/p>\n

\u00a0<\/strong>Tem outros familiares que sofrem de LGMD?<\/strong><\/p>\n

N\u00e3o temos mais nenhum familiar com LGMD ou outras formas de distrofia muscular.<\/p>\n

Quais s\u00e3o, na sua opini\u00e3o, os maiores desafios de viver com a LGMD?<\/strong>?<\/p>\n

A preocupa\u00e7\u00e3o constante com a progress\u00e3o da doen\u00e7a do Jacob ao longo do tempo, enquanto esperamos por um tratamento ou uma cura t\u00e3o necess\u00e1rios, e sem sabermos quando \u00e9 que esse tratamento ou essa cura chegar\u00e3o. Temos de lembrar constantemente ao Jacob a import\u00e2ncia de se manter hidratado diariamente; ele bebe cerca de 48 on\u00e7as de \u00e1gua por dia desde o incidente inicial de rabdomi\u00f3lise. Isso \u00e9 muito para qualquer pessoa, quanto mais para um mi\u00fado de 6 anos! Tamb\u00e9m n\u00e3o permitimos que o Jacob pratique desportos de equipa neste momento, por recomenda\u00e7\u00e3o dos m\u00e9dicos e por receio de for\u00e7ar os m\u00fasculos e acelerar a sua progress\u00e3o. Ele est\u00e1 na idade em que todos os seus amigos jogam em equipas desportivas durante todo o ano. Esse sentido de camaradagem, desportivismo e uni\u00e3o com os colegas \u00e9 fundamental nesta idade e \u00e0 medida que ele cresce. \u00c9 desolador para os pais verem o seu filho enfrentar estas dificuldades.<\/p>\n

Qual \u00e9 a sua maior realiza\u00e7\u00e3o?<\/strong><\/p>\n

A maior realiza\u00e7\u00e3o atual do Jacob \u00e9 o facto de ele n\u00e3o desistir. \u00c9 um rapaz forte, inteligente e determinado, que est\u00e1 sempre a tentar dar o seu melhor e que se esfor\u00e7a ao m\u00e1ximo. Orgulha-se de que esta \u00e9 uma das suas carater\u00edsticas mais fortes e gosta de se descrever como \"feroz\".<\/p>\n

Como \u00e9 que a LGMD o influenciou a tornar-se a pessoa que \u00e9 hoje?<\/strong><\/p>\n

A LGMD tem influenciado Jacob desde o seu diagn\u00f3stico. Ele est\u00e1 mais atento a ouvir o seu corpo quando este precisa de descansar. N\u00e3o tem medo de pedir uma pausa aos professores se precisar de uma, especialmente na educa\u00e7\u00e3o f\u00edsica e no recreio. Os seus professores comentaram connosco como est\u00e3o orgulhosos e impressionados por ele fazer isto numa idade t\u00e3o jovem.<\/p>\n

Para n\u00f3s, enquanto pais, temos uma nova motiva\u00e7\u00e3o e um novo objetivo: ajudar toda a comunidade LGMD, incluindo o Jacob, a obter os tratamentos de que cada doente necessita e merece. Torn\u00e1mo-nos defensores da sensibiliza\u00e7\u00e3o para esta doen\u00e7a rara e estamos empenhados em ajudar a comunidade como pudermos.<\/p>\n

O que quer que o mundo saiba sobre a LGMD<\/strong>?<\/p>\n

Queremos que o mundo saiba que a LGMD \u00e9 uma doen\u00e7a cr\u00edtica e rara que precisa desesperadamente de tratamentos e de uma cura o mais rapidamente poss\u00edvel. Esta doen\u00e7a agrava-se com o tempo, pelo que o tempo \u00e9 essencial. A sensibiliza\u00e7\u00e3o para esta doen\u00e7a \u00e9 fundamental para levar esta miss\u00e3o por diante. Quanto mais pessoas souberem desta doen\u00e7a e da sua import\u00e2ncia, mais investiga\u00e7\u00e3o e ensaios cl\u00ednicos ser\u00e3o efectuados. Os nossos entes queridos precisam de op\u00e7\u00f5es de tratamento, tal como outras pessoas que t\u00eam doen\u00e7as raras e n\u00e3o raras.<\/p>\n

Se a sua LGMD pudesse ser \"curada\" amanh\u00e3, qual seria a primeira coisa que gostaria de fazer?<\/strong>?<\/p>\n

O Jacob gostava de poder jogar basquetebol numa equipa local. Se ficasse curado amanh\u00e3, gostaria de praticar desportos colectivos sem ter de se preocupar com a ingest\u00e3o excessiva de \u00e1gua, com as dores nas pernas por estar demasiado ativo ou com outro caso de rabdomi\u00f3lise.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":7668,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,28],"tags":[29,122,16],"class_list":["post-7666","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2d","tag-lgmd2d","tag-lgmdr3","tag-united-states"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Jacob - 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\/lgmd2d\/2023\/04\/02\/individual-with-lgmd-jacob\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Jacob - 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