{"id":7663,"date":"2023-04-22T16:20:29","date_gmt":"2023-04-22T16:20:29","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=7663"},"modified":"2024-02-09T14:23:48","modified_gmt":"2024-02-09T14:23:48","slug":"peter","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/it\/lgmd2c\/2023\/04\/22\/peter\/","title":{"rendered":"INDIVIDUO CON LGMD: Peter"},"content":{"rendered":"

\"Lgmd2c<\/p>\n

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

Et\u00e0<\/strong>: \u00a010<\/p>\n

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

Sottotipo LGMD<\/strong>: LGMD 2C\/R5 gamma-sarcoglicanopatia<\/p>\n

* Completato dalla madre di Peter<\/em><\/p>\n

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

La diagnosi mi \u00e8 stata fatta all'et\u00e0 di 9 anni. Mamma e pap\u00e0 hanno iniziato a notare un peggioramento della debolezza muscolare che \u00e8 diventato molto preoccupante, cos\u00ec abbiamo portato Peter dal medico di base per fare degli esami per verificare la presenza di un disturbo neuromuscolare. Abbiamo trovato una CK elevata e abbiamo iniziato il nostro percorso diagnostico: il test genetico ha confermato la LGMD 2C.<\/p>\n

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

I primi sintomi a 6-7 anni includevano ipertrofia del polpaccio, leggera deambulazione con le dita dei piedi e incapacit\u00e0 di tenere il passo con i coetanei negli sport adatti all'et\u00e0 (cio\u00e8 correre le basi, colpire le palle da baseball, ecc.).<\/p>\n

I sintomi all'et\u00e0 di 8-9 anni comprendevano difficolt\u00e0 ad alzarsi dal pavimento usando le gambe per alzarsi, difficolt\u00e0 con le scale e cadute frequenti.<\/p>\n

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

Alla sorella minore di 7 anni \u00e8 stata successivamente diagnosticata la LGMD 2C. Nessun genitore o precedente storia familiare di distrofia.<\/p>\n

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

Peter ha iniziato a manifestare un certo affaticamento durante la giornata scolastica, richiedendo pause frequenti, tempo extra per raggiungere le classi e alcune sistemazioni durante le lezioni. La difficolt\u00e0 a salire le scale e a camminare per lunghi tratti rappresenta una sfida quasi quotidiana.<\/p>\n

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

Nonostante sia stato escluso dalle squadre sportive e a volte non riesca a tenere il passo con i coetanei, Peter ha instaurato amicizie meravigliose durante tutta la scuola elementare. Quando ha iniziato a manifestare i sintomi, i suoi amici si sono stretti intorno a lui per sostenerlo e aiutarlo. Il suo vasto gruppo di amici \u00e8 il risultato diretto della sua personalit\u00e0 gentile e affabile, infatti la maggior parte dei suoi amici afferma che Peter \u00e8 il loro \"migliore amico\".<\/p>\n

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

Peter sta ancora imparando a conoscere la LGMD. Abbiamo discusso della sua malattia neuromuscolare con un linguaggio adatto all'et\u00e0, pur essendo cauti nei confronti della capacit\u00e0 di un bambino di 10 anni di \"googlare\" qualsiasi cosa. Abbiamo discusso dell'importanza della fisioterapia, dello stretching e del riposo necessario quando si \u00e8 stanchi. Peter ha lottato per tenere il passo negli ultimi anni, senza lamentarsi o mollare, mentre lavorava molto pi\u00f9 duramente di quanto sapessimo. Peter \u00e8 interessato all'ingegneria e all'architettura di aerei, portaerei, navi militari, ecc. Sogna di progettare e costruire navi militari, come portaerei e cacciatorpediniere.<\/p>\n

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

Noi, come famiglia, desideriamo diffondere la conoscenza della LGMD, in particolare dei sarcoglicani. Queste malattie ereditarie, rare e genetiche possono manifestarsi senza alcun preavviso o storia familiare. La ricerca sulla LGMD \u00e8 limitata, cos\u00ec come le potenziali opzioni di trattamento. Un'idea sbagliata comune sulla LGMD \u00e8 che possa insorgere pi\u00f9 tardi nella vita e che abbia una \"progressione lenta\"; tuttavia, i sarcoglicani colpiscono comunemente i bambini e possono avere una rapida progressione della malattia.<\/p>\n

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

Peter vorrebbe sicuramente giocare a baseball con i suoi amici, correre con suo fratello e imparare a pescare un tonno gigante con pap\u00e0!<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":7664,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,75],"tags":[],"class_list":["post-7663","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2c"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Peter - 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\/lgmd2c\/2023\/04\/22\/peter\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Peter - 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