{"id":1945,"date":"2018-05-11T10:07:41","date_gmt":"2018-05-11T15:07:41","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1945"},"modified":"2018-05-11T10:07:41","modified_gmt":"2018-05-11T15:07:41","slug":"anamaria","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/it\/individuals-with-lgmd-interviews\/2018\/05\/11\/anamaria\/","title":{"rendered":"INDIVIDUO CON LGMD: Anamaria"},"content":{"rendered":"

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

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

NOME<\/strong>: Anamaria \u00a0\u00a0\u00a0ET\u00c0<\/strong>: 25 anni\"\"<\/a><\/p>\n

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

LGMD Sottotipo<\/strong>: LGMD2A \/ Calpainopatia<\/p>\n

 <\/p>\n

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

Quest'anno mi \u00e8 stato diagnosticato il test genetico del \"sequenziamento dell'intero esoma\".<\/p>\n

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

I primi sintomi si sono manifestati all'et\u00e0 di 23 anni quando ho avuto le vertigini e tutti i medici mi hanno consigliato di controllare l'orecchio interno. Vale la pena di ricordare che ho fatto il test clinico con il neurologo, ma all'epoca non avevo alcun problema. Con il passare del tempo ho iniziato a salire le scale con difficolt\u00e0, ad alzarmi in modo scomodo dal pavimento o dalla sedia... I medici non sono riusciti a diagnosticarmi, nemmeno dopo una biopsia muscolare. Mi hanno detto che avevo la distrofia muscolare e che dovevo fare altri test genetici, ma non sapevano quali (la malattia di Pompe e la Duchenne\/Becker erano negative). Cos\u00ec ho iniziato a cercare informazioni e ho inviato le mie analisi in Germania. Solo Centogen mi ha risposto e mi ha mandato da un genetista.<\/p>\n

Avete altri familiari affetti da LGMD:\u00a0 <\/strong><\/p>\n

No, sono l'unica persona della mia famiglia a cui \u00e8 stata diagnosticata la LGMD2A.<\/p>\n

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

\u00c8 molto difficile che a 25 anni la sfida pi\u00f9 grande sia pensare di poter salire le scale da soli. Vengo dalla Romania e, sebbene sia un Paese dell'Unione Europea, \u00e8 un Paese povero e non ci sono condizioni per chi ha problemi e quando le persone mi vedono salire le scale in modo diverso mi guardano con sospetto, a volte si chiedono perch\u00e9 salgo cos\u00ec... Un'altra sfida \u00e8 che quando cado non riesco a rialzarmi. \u00c8 difficile dipendere sempre da qualcuno...<\/p>\n

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

Che mi sveglio al mattino e riesco a respirare e a camminare.<\/p>\n

In che modo la LGMD l'ha influenzata nel diventare la persona che \u00e8 oggi: \u00a0<\/strong><\/p>\n

Ho letto tutte le interviste di coloro che hanno la mia stessa malattia e ho notato che tutti pensano di aver ottenuto una versione migliore di loro stessi, ma con me penso che sia stato il contrario. Sono diventata una persona con molte paure. Per esempio, ho paura persino delle scale del treno, perch\u00e9 sono molto alte...<\/p>\n

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

Per cominciare, voglio che il mondo conosca la Romania e il fatto che per noi \u00e8 molto difficile avere una diagnosi. Siamo un Paese povero. Sapete qual \u00e8 il salario minimo nel nostro Paese? 266 euro. Sa quanto pago solo per il test genetico? 1.660 euro... La mia ricerca suggerisce che in Romania ci sono molte persone affette da distrofia muscolare che per\u00f2 non possono permettersi di andare da un medico e soprattutto di fare i test genetici. Vorrei che coloro che lavorano negli studi clinici smettessero di dire che non lavorano con persone provenienti dalla Romania...<\/p>\n

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

Mi candiderei sicuramente e poi cercherei di aiutare quante pi\u00f9 persone possibile ad avere accesso alle cure.<\/p>\n

 <\/p>\n

*** Per favore, metti un LIKE, un COMMENTO e condividi questo post per contribuire a sensibilizzare l'opinione pubblica sulla LGMD!
\n*** Per leggere altre \"interviste LGMD Spotlight\" o per proporsi come volontario per una prossima intervista, visitate il nostro sito web all'indirizzo https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>\n

 <\/p>\n

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

LGMD \u201cSPOTLIGHT INTERVIEW\u2019 \u00a0 NAME:\u00a0 Anamaria \u00a0\u00a0\u00a0AGE:\u00a0 25 years old […]<\/p>","protected":false},"author":1,"featured_media":1944,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,14],"tags":[97],"class_list":["post-1945","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2a","tag-lgmd2a-romania"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Anamaria - 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\/2018\/05\/11\/anamaria\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Anamaria - 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