{"id":5544,"date":"2021-10-17T02:17:57","date_gmt":"2021-10-17T02:17:57","guid":{"rendered":"https:\/\/www.lgmd-info.org\/?p=5544"},"modified":"2024-02-09T14:23:59","modified_gmt":"2024-02-09T14:23:59","slug":"individual-with-lgmd-jade","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/it\/individuals-with-lgmd-interviews\/2021\/10\/17\/individual-with-lgmd-jade\/","title":{"rendered":"INDIVIDUO CON LGMD: Giada"},"content":{"rendered":"

\"<\/p>\n

LGMD \"INTERVISTA SPOTLIGHT\"<\/strong><\/h3>\n

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

Et\u00e0<\/strong>: 20 anni<\/p>\n

Paese<\/strong>: Stati Uniti<\/p>\n

Sottotipo LGMD<\/strong>: LGMD 2A\/R1 legato alla calpaina 3<\/p>\n

A che et\u00e0 \u00e8 stata fatta la diagnosi<\/strong>?<\/p>\n

Mi \u00e8 stata diagnosticata ufficialmente nel marzo 2021, quindi tutto questo \u00e8 ancora nuovo per me.<\/p>\n

Quali sono stati i primi SINTOMI?<\/strong><\/p>\n

La prima volta che ho notato i sintomi, pensavo di essere solo disidratata. Mi sentivo debole, le gambe sembravano una gelatina e avevo dolore alle anche. Ora che sono consapevole della mia diagnosi, posso guardare indietro e vedere i sintomi gi\u00e0 all'et\u00e0 di 12 anni. Giocavo a softball e non riuscivo a far correre le gambe, per quanto mi sforzassi. Ho anche sempre avuto polpacci anormalmente grandi, ma ora so che questo pu\u00f2 accadere a causa della mancanza di forza muscolare nei quadricipiti.<\/p>\n

Ha altri familiari affetti da LGMD?<\/strong><\/p>\n

No, sono l'unica persona della mia famiglia con LGMD2A\/R1.<\/p>\n

Quali sono, secondo lei, le sfide pi\u00f9 grandi da affrontare nella convivenza con la LGMD?<\/strong>?<\/p>\n

Le scale mi impediscono di fare molte cose. Riesco ancora ad affrontare le scale, ma ci vuole tanto sforzo e tanta energia. Non ne vale la pena. Devo anche imparare ad adattare la mia vita quotidiana, come ad esempio avere una sedia per sedermi e riposare quando cucino, sedermi a terra per tenere i bambini invece di prenderli in braccio e limitare il numero di cose che faccio in un giorno. L'ostacolo pi\u00f9 grande che ho incontrato \u00e8 il problema mentale della sedia elettrica. So che devo usarla, ma c'\u00e8 una barriera mentale che non ha ancora accettato la mia diagnosi.<\/p>\n

Qual \u00e8 il suo pi\u00f9 grande risultato?<\/strong><\/p>\n

Le mie relazioni e la mia visione positiva della vita. Ho completato la scuola superiore, ma dopo ho affrontato il problema della diagnosi, quindi non sono ancora riuscita ad andare all'universit\u00e0, ma \u00e8 un mio obiettivo.<\/p>\n

In che modo la LGMD l'ha influenzata nel diventare la persona che \u00e8 oggi?<\/strong><\/p>\n

Mi ha dato la possibilit\u00e0 di essere pi\u00f9 consapevole di me stesso e di autoeducarmi. Ora sono pi\u00f9 in contatto con il mio corpo, riesco a capire se sono in rabdomiolisi, se sto facendo fatica o se ho solo bisogno di riposare. A causa della mancanza di ricerche sulla LGMD, si tratta di un lavoro di autoeducazione e di difesa. Vivo in una comunit\u00e0 semi-rurale, quindi nessun medico aveva idea di cosa fare per me o di cosa avessi. Ora posso chiamare il mio medico di base, dirgli cosa sta succedendo e loro mi cureranno di conseguenza.<\/p>\n

Cosa volete che il mondo sappia della LGMD?<\/strong>?<\/p>\n

La LGMD non ha lo stesso aspetto in tutti. Non tutti saranno in grado di deambulare e non tutti saranno su una sedia a rotelle. Cos\u00ec come non tutti hanno avuto una diagnosi precoce e alcuni non l'hanno mai avuta (anche se ora \u00e8 pi\u00f9 facile). Non tutti prenderanno bene la diagnosi e andranno avanti fiduciosi, e non tutti avranno una spirale di declino a causa della diagnosi. Non date mai per scontato di sapere cosa sta passando qualcuno a livello fisico e mentale.<\/p>\n

Se la vostra LGMD potesse essere \"curata\" domani, quale sarebbe la prima cosa che vorreste fare?<\/strong>?<\/p>\n

La prima cosa che vorrei fare \u00e8 partire per una vacanza avventurosa o un viaggio in auto. Non \u00e8 pratico per me ora, ma ho sempre desiderato andare al Grand Canyon, allo Yosemite, al punto pi\u00f9 alto dei Monti Appalachi e ai vulcani delle Hawaii.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"featured_media":5545,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,14],"tags":[12,15,82,16],"class_list":["post-5544","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2a","tag-calpainopathy","tag-lgmd2a","tag-lgmd2a-calpainopathy","tag-united-states"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Jade - 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\/it\/individuals-with-lgmd-interviews\/2021\/10\/17\/individual-with-lgmd-jade\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Jade - 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