{"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\/it\/lgmd2d\/2023\/04\/02\/individual-with-lgmd-jacob\/","title":{"rendered":"INDIVIDUO CON LGMD: Jacob"},"content":{"rendered":"

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

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

Et\u00e0<\/strong>: 6 anni<\/p>\n

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

Sottotipo LGMD<\/strong>: LGMD2D \/ R3<\/p>\n

* * * Completato dai genitori di Jacob, Josh e Rachel<\/em><\/p>\n

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

A Jacob \u00e8 stata diagnosticata la LGMD2D \/ R3 all'et\u00e0 di 5 anni.<\/p>\n

\u00a0<\/strong>Quali sono stati i primi sintomi?<\/strong><\/p>\n

Abbiamo scoperto la diagnosi di Jacob dopo un caso di rabdomiolisi nell'estate del 2021. Oggi i suoi sintomi principali sono segnali occasionali simili alla rabdomiolisi, tra cui l'urina scura e le gambe che iniziano a fargli male quando \u00e8 troppo attivo senza una significativa idratazione.<\/p>\n

\u00a0<\/strong>Ha altri familiari affetti da LGMD?<\/strong><\/p>\n

Non abbiamo altri familiari affetti da LGMD o da altre forme di distrofia muscolare.<\/p>\n

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

La costante preoccupazione per la progressione di Jacob nel tempo, in attesa di un trattamento o di una cura tanto necessari, e il fatto di non sapere quando questo trattamento o questa cura saranno disponibili. Dobbiamo ricordare costantemente a Jacob quanto sia importante mantenersi idratato ogni giorno; dall'incidente iniziale di rabdomiolisi beve circa 48 once di acqua al giorno. \u00c8 molto per chiunque, figuriamoci per un bambino di 6 anni! Inoltre, in questo momento non permettiamo a Jacob di praticare sport di squadra, in base alle raccomandazioni dei medici e al timore di sforzare i muscoli e accelerare la progressione. Ha un'et\u00e0 in cui tutti i suoi amici giocano in squadre sportive durante l'anno. Il senso di cameratismo, di sportivit\u00e0 e di unione con i coetanei \u00e8 fondamentale a quest'et\u00e0 e durante la crescita. \u00c8 straziante per i genitori vedere il proprio figlio affrontare queste difficolt\u00e0.<\/p>\n

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

Il pi\u00f9 grande risultato attuale di Jacob \u00e8 che non si arrende. \u00c8 un ragazzo forte, intelligente e determinato, che fa sempre del suo meglio e si impegna al massimo. \u00c8 orgoglioso che questo sia uno dei suoi tratti pi\u00f9 forti e ama descriversi come \"feroce\".<\/p>\n

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

La LGMD ha influenzato Jacob dalla sua diagnosi. \u00c8 pi\u00f9 attento ad ascoltare il suo corpo quando ha bisogno di riposo. Non ha paura di chiedere agli insegnanti una pausa se ne ha bisogno, soprattutto durante l'educazione fisica e la ricreazione. I suoi insegnanti ci hanno fatto notare quanto siano orgogliosi e colpiti dal fatto che faccia tutto questo a un'et\u00e0 cos\u00ec giovane.<\/p>\n

Noi genitori abbiamo un nuovo obiettivo: aiutare l'intera comunit\u00e0 della LGMD, compreso Jacob, a ricevere le cure di cui ogni paziente ha bisogno e che merita. Siamo diventati sostenitori di questa malattia rara e ci dedichiamo ad aiutare la comunit\u00e0 come possiamo.<\/p>\n

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

Vogliamo che il mondo sappia che la LGMD \u00e8 una malattia rara e critica che ha un disperato bisogno di trattamenti e di una cura il prima possibile. Questa malattia peggiora nel tempo, quindi il tempo \u00e8 fondamentale. La consapevolezza di questa malattia \u00e8 fondamentale per portare avanti questa missione. Il maggior numero di persone che ne viene a conoscenza e la sua criticit\u00e0 contribuiranno ad aumentare la ricerca e gli studi clinici. I nostri cari hanno bisogno di opzioni terapeutiche proprio come gli altri affetti da malattie rare e non.<\/p>\n

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

Jacob vorrebbe poter giocare a basket in una squadra locale. Se domani fosse guarito, vorrebbe praticare uno sport di squadra senza doversi preoccupare dell'eccessiva assunzione di acqua, del dolore alle gambe per il troppo movimento o di un altro caso di rabdomiolisi.<\/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\/it\/lgmd2d\/2023\/04\/02\/individual-with-lgmd-jacob\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Jacob - 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