{"id":5588,"date":"2022-01-07T02:44:43","date_gmt":"2022-01-07T02:44:43","guid":{"rendered":"https:\/\/www.lgmd-info.org\/?p=5588"},"modified":"2024-02-09T14:23:57","modified_gmt":"2024-02-09T14:23:57","slug":"individual-with-lgmd-sophia","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/it\/individuals-with-lgmd-interviews\/2022\/01\/07\/individual-with-lgmd-sophia\/","title":{"rendered":"INDIVIDUO CON LGMD: Sophia"},"content":{"rendered":"

\"<\/p>\n

Intervista a riflettori accesi sulla LGMD <\/strong><\/h2>\n

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

Et\u00e0<\/strong>: \u00a08<\/p>\n

Paese<\/strong>: STATI UNITI D'AMERICA<\/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

La diagnosi ufficiale \u00e8 stata fatta all'et\u00e0 di 6 anni grazie a un test genetico del sangue.<\/p>\n

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

Ho avuto una polmonite quando avevo 4,5 anni e mia madre mi ha portato a fare le analisi del sangue perch\u00e9 sono stata male per molto tempo. I miei livelli di enzimi epatici erano molto alti, cos\u00ec i medici iniziarono a cercarne il motivo. Ho anche iniziato a camminare sulle punte dei piedi. Sono entrata e uscita da molti ospedali e ho ricevuto diagnosi errate per un anno e mezzo. \u00c8 stato spaventoso, ma sono stata molto coraggiosa.<\/p>\n

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

Non che noi sappiamo.<\/p>\n

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

Le mie sfide pi\u00f9 grandi sono quelle di dover camminare molto, le mie gambe si stancano molto e di vedere i bambini fare cose che, mentre giocano, so che mi stancheranno le gambe e le braccia. Una volta ero in grado di fare anche le scimmie. Questo mi rende triste. La mia famiglia trova sempre il modo di aiutarmi a fare le cose, ma \u00e8 comunque difficile vedere gli altri bambini della mia et\u00e0 correre e giocare e non stancarsi velocemente come me.<\/p>\n

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

Ho parlato con i miei 3rd<\/sup> Nella mia nuova scuola ho parlato alla classe della mia LGMD2A, anche se ero molto spaventata. Contribuisco a diffondere la consapevolezza in modo che altri bambini non debbano passare cos\u00ec tanto tempo per ricevere una diagnosi e per aiutarci a trovare una cura. Riesco a fare il campo da circo e i piegamenti sulla schiena anche se ho la distrofia muscolare. Non lascio che questo mi impedisca di provare cose nuove anche quando so che sar\u00e0 difficile. Ho anche imparato ad andare in bicicletta elettrica per poter giocare con i miei amici.<\/p>\n

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

Mi ha reso molto coraggioso. Affronto le mie paure di cadere di fronte alle persone e le visite in ospedale e questo mi rende forte. Non vedo le disabilit\u00e0 o lo sguardo delle persone, ma le vedo. Sto anche imparando ad accettarmi cos\u00ec come sono.<\/p>\n

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

Si pu\u00f2 avere una vita molto felice e i genitori devono sapere che i ragazzi come me sono felici anche con le sfide della distrofia muscolare. Anche se ne sono affetto, trovo il mio modo di muovermi e uso la sedia a rotelle quando ne ho bisogno. Non \u00e8 sempre facile e pu\u00f2 essere spaventoso quando il tuo corpo non funziona come vorresti. Voglio che il mondo sappia che i bambini come me sono in attesa di una cura.<\/p>\n

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

Vorrei correre molto velocemente e lontano, andare in bicicletta, fare le scimmie e molta ginnastica.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"featured_media":5587,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,14],"tags":[70],"class_list":["post-5588","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2a","tag-lgmd2a-calpainopathy-united-states"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Sophia - 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\/2022\/01\/07\/individual-with-lgmd-sophia\/\" \/>\n<meta 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