{"id":1138,"date":"2016-01-30T12:59:17","date_gmt":"2016-01-30T18:59:17","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1138"},"modified":"2016-01-30T12:59:17","modified_gmt":"2016-01-30T18:59:17","slug":"thomas","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/it\/individuals-with-lgmd-interviews\/2016\/01\/30\/thomas\/","title":{"rendered":"INDIVIDUO CON LGMD: Thomas"},"content":{"rendered":"

01\/30\/2016<\/p>\n

Intervista con i riflettori della LGMD<\/strong><\/p>\n

Nome<\/strong>: Tommaso\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 AG<\/strong>E: 31\"LGMD2B<\/a><\/p>\n

PAESE<\/strong>: Svizzera<\/p>\n

Sottotipo LGMD<\/strong>: LGMD 2B \/ Miopatia di Miyoshi<\/p>\n

\u00a0<\/strong><\/p>\n

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

La mia prima diagnosi (biopsia) risale a 28 anni, seguita dalla prova con test genetico un anno dopo.<\/p>\n

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

Non \u00e8 cos\u00ec facile da dire. Ora so dove devo guardare, e mi sono venuti in mente tanti esempi: nella mia infanzia avevamo una scala che saliva ripidamente intorno a casa nostra, dove ho sempre avuto difficolt\u00e0 a salire perch\u00e9 i gradini erano molto corti. In et\u00e0 adolescenziale ho iniziato a praticare lo snowboard, dove non ero in grado di esercitare molta pressione sul bordo anteriore della tavola. Da giovane adulto non riuscivo a saltare a ritmo di musica nelle discoteche. All'et\u00e0 di 24\/25 anni mi sono reso conto che non ero in grado di stare in piedi sulle punte e che i miei muscoli polpacci sono di fatto inesistenti. Negli ultimi anni ho notato che i muscoli delle gambe e delle braccia si stanno accorciando.<\/p>\n

A 18 anni il mio medico mi ha detto che avevo valori troppo alti di creatinchinasi nel sangue. Si aggiravano intorno ai 250-300, troppo bassi per malattie note e troppo alti per essere normali. Ora so che questo \u00e8 stato il primo indicatore medico di Miyoshi.<\/p>\n

Avete altri familiari affetti da LGMD:<\/strong><\/p>\n

S\u00ec, anche mia sorella ha la LGMD. I suoi sintomi (piedi in piedi, creatinchinasi) sono gli stessi, ma lei sembra essere meno colpita.<\/p>\n

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

Secondo me, la sfida pi\u00f9 grande \u00e8 accettare questa sfida! All'inizio, dopo la diagnosi, \u00e8 stato difficile accettarla. \u00c8 necessaria una forza psicologica per affrontarla. Inoltre, quando si guarda al decorso della malattia, non bisogna sopravvalutare o sottovalutare i sintomi e gli effetti. Guardando al futuro, bisogna sempre pianificare le cose tenendo conto della LGMD (forse si avr\u00e0 bisogno di una sedia a rotelle tra 5, 7 o 10 anni).<\/p>\n

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

Accettare la LGMD e divertirmi a fare cose che non potr\u00f2 fare in futuro.<\/p>\n

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

La diagnosi \u00e8 arrivata proprio all'inizio del mio Master. Oltre agli studi di laurea e di master (a tempo pieno), lavoravo nei fine settimana e durante le vacanze scolastiche. Ora lavoro part-time e ho un buon motivo per godermi il tempo libero con mia moglie, i nostri cani e il nostro giardino. Do pi\u00f9 valore a ci\u00f2 che ho ora.<\/p>\n

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

Che esiste. Credo che ci siano molti casi non registrati di LGMD.<\/p>\n

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

Ho appena perso la mia patente di guida per camion e pullman a causa di Miyoshi. Non era solo un lavoro per finanziare i miei studi, era anche il mio hobby. Quindi la riprendevo e andavo in giro.<\/p>\n

 <\/p>\n

Per leggere altre \"Interviste Spotlight LGMD\" o per proporsi come volontario per una prossima intervista, visitate il nostro sito web all'indirizzo: https:\/\/www.lgmd-info.org\/spotlight-interviews.<\/p>\n

 <\/p>","protected":false},"excerpt":{"rendered":"

01\/30\/2016 LGMD \u201cSpotlight interview\u201d Name:\u00a0 Thomas\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 AGE: 31 COUNTRY: Switzerland […]<\/p>","protected":false},"author":1,"featured_media":1139,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,22],"tags":[23,55,58],"class_list":["post-1138","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2b","tag-lgmd2b","tag-miyoshi-myopathy","tag-switzerland"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Thomas - 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=\"http:\/\/www.lgmd-info.org\/it\/individuals-with-lgmd-interviews\/2016\/01\/30\/thomas\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Thomas - 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