{"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\/pl\/individuals-with-lgmd-interviews\/2022\/01\/07\/individual-with-lgmd-sophia\/","title":{"rendered":"OSOBA Z LGMD: Sophia"},"content":{"rendered":"

\"<\/p>\n

LGMD \"Wywiad w centrum uwagi\" <\/strong><\/h2>\n

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

Wiek<\/strong>: \u00a08<\/p>\n

Kraj<\/strong>: USA<\/p>\n

Podtyp LGMD<\/strong>: LGMD 2A\/R1 zwi\u0105zane z kalpain\u0105 3<\/p>\n

W jakim wieku zosta\u0142e\u015b zdiagnozowany?<\/strong>?<\/p>\n

Oficjalnie zdiagnozowano mnie w wieku 6 lat na podstawie genetycznego badania krwi.<\/p>\n

Jakie by\u0142y pierwsze objawy?<\/strong>?<\/p>\n

Kiedy mia\u0142am 4,5 roku, zachorowa\u0142am na zapalenie p\u0142uc i mama zabra\u0142a mnie na badania krwi, poniewa\u017c chorowa\u0142am przez d\u0142ugi czas. Poziom enzym\u00f3w w\u0105trobowych by\u0142 bardzo wysoki, wi\u0119c lekarze zacz\u0119li szuka\u0107 przyczyny. Zacz\u0105\u0142em te\u017c chodzi\u0107 na palcach. Przez 1,5 roku przebywa\u0142am w wielu szpitalach i by\u0142am b\u0142\u0119dnie diagnozowana. To by\u0142o straszne, ale by\u0142am bardzo dzielna.<\/p>\n

Czy masz innych cz\u0142onk\u00f3w rodziny cierpi\u0105cych na LGMD? <\/strong><\/p>\n

Nic o tym nie wiemy.<\/p>\n

Co uwa\u017casz za najwi\u0119ksze wyzwanie w \u017cyciu z LGMD?<\/strong>?<\/p>\n

Moje najwi\u0119ksze wyzwania to konieczno\u015b\u0107 chodzenia daleko, moje nogi bardzo si\u0119 m\u0119cz\u0105 i obserwowanie, jak dzieci podczas zabawy robi\u0105 rzeczy, o kt\u00f3rych wiem, \u017ce zm\u0119cz\u0105 moje nogi i ramiona. Kiedy\u015b mog\u0142am te\u017c chodzi\u0107 na dr\u0105\u017ckach. To sprawia, \u017ce czuj\u0119 si\u0119 smutny. Moja rodzina zawsze znajduje sposoby, by mi pom\u00f3c, ale wci\u0105\u017c ci\u0119\u017cko jest patrze\u0107, jak inne dzieci w moim wieku biegaj\u0105 i bawi\u0105 si\u0119 i nie m\u0119cz\u0105 si\u0119 tak szybko jak ja.<\/p>\n

Jakie s\u0105 twoje najwi\u0119ksze osi\u0105gni\u0119cia?<\/strong><\/p>\n

Rozmawia\u0142em z moimi 3rd<\/sup> w mojej nowej szkole o mojej chorobie LGMD2A, mimo \u017ce bardzo si\u0119 ba\u0142am. Pomagam szerzy\u0107 \u015bwiadomo\u015b\u0107, aby inne dzieci nie musia\u0142y przechodzi\u0107 przez tak wiele, aby zosta\u0107 zdiagnozowanym i aby pom\u00f3c nam znale\u017a\u0107 lekarstwo. Potrafi\u0119 robi\u0107 ob\u00f3z cyrkowy i wygi\u0119cia do ty\u0142u, mimo \u017ce mam dystrofi\u0119 mi\u0119\u015bniow\u0105. Nie powstrzymuje mnie to przed pr\u00f3bowaniem nowych rzeczy, nawet je\u015bli wiem, \u017ce b\u0119dzie to trudne. Nauczy\u0142em si\u0119 tak\u017ce je\u017adzi\u0107 na rowerze elektrycznym, dzi\u0119ki czemu mog\u0119 bawi\u0107 si\u0119 z przyjaci\u00f3\u0142mi.<\/p>\n

Jak LGMD wp\u0142yn\u0119\u0142o na to, \u017ce sta\u0142e\u015b si\u0119 osob\u0105, kt\u00f3r\u0105 jeste\u015b dzisiaj?<\/strong><\/p>\n

To uczyni\u0142o mnie bardzo odwa\u017cn\u0105. Stawiam czo\u0142a moim l\u0119kom przed upadkiem przed lud\u017ami i wizytami w szpitalu i to czyni mnie siln\u0105. Nie widz\u0119 niepe\u0142nosprawno\u015bci ani gapi\u00f3w, widz\u0119 ich. Ucz\u0119 si\u0119 te\u017c akceptowa\u0107 siebie tak\u0105, jak\u0105 jestem.<\/p>\n

Co chcia\u0142by\u015b, aby \u015bwiat dowiedzia\u0142 si\u0119 o LGMD?<\/strong>?<\/p>\n

Mo\u017cna mie\u0107 bardzo szcz\u0119\u015bliwe \u017cycie, a rodzice musz\u0105 wiedzie\u0107, \u017ce dzieci takie jak ja s\u0105 szcz\u0119\u015bliwe nawet z wyzwaniami zwi\u0105zanymi z dystrofi\u0105 mi\u0119\u015bniow\u0105. Mimo \u017ce mam t\u0119 chorob\u0119, znajduj\u0119 swoje sposoby na poruszanie si\u0119 i korzystam z w\u00f3zka inwalidzkiego, kiedy tego potrzebuj\u0119. Nie zawsze jest to \u0142atwe i mo\u017ce by\u0107 przera\u017caj\u0105ce, gdy twoje cia\u0142o nie dzia\u0142a tak, jak chcesz. Chc\u0119, aby \u015bwiat wiedzia\u0142, \u017ce dzieci takie jak ja czekaj\u0105 na lekarstwo.<\/p>\n

Gdyby jutro mo\u017cna by\u0142o \"wyleczy\u0107\" chorob\u0119 LGMD, co by\u0142oby pierwsz\u0105 rzecz\u0105, kt\u00f3r\u0105 chcia\u0142by\u015b zrobi\u0107?<\/strong>?<\/p>\n

Chcia\u0142abym biega\u0107 naprawd\u0119 szybko i daleko, je\u017adzi\u0107 na zwyk\u0142ym rowerze, robi\u0107 ma\u0142pki i du\u017co gimnastyki.<\/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\" 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