{"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\/pl\/individuals-with-lgmd-interviews\/2018\/05\/11\/anamaria\/","title":{"rendered":"OSOBA Z LGMD: Anamaria"},"content":{"rendered":"

LGMD \"WYWIAD W \u015aWIETLE REFLEKTOR\u00d3W<\/strong><\/p>\n

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

NAZWA<\/strong>: Anamaria \u00a0\u00a0\u00a0WIEK<\/strong>25 lat\"\"<\/a><\/p>\n

KRAJ<\/strong>: Rumunia<\/p>\n

Podtyp LGMD<\/strong>: LGMD2A \/ kalpainopatia<\/p>\n

 <\/p>\n

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

Zosta\u0142em zdiagnozowany w tym roku za pomoc\u0105 test\u00f3w genetycznych \"sekwencjonowania ca\u0142ego egzomu\".<\/p>\n

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

Pierwsze objawy pojawi\u0142y si\u0119 w wieku oko\u0142o 23 lat, kiedy mia\u0142em zawroty g\u0142owy, a wszyscy lekarze zalecali mi sprawdzenie ucha wewn\u0119trznego. Warto wspomnie\u0107, \u017ce wykona\u0142em test kliniczny u neurologa, ale w tamtym czasie nie mia\u0142em \u017cadnego problemu. Z czasem zacz\u0119\u0142am ci\u0119\u017cko wchodzi\u0107 po schodach, nieporadnie wstawa\u0107 z pod\u0142ogi czy z krzes\u0142a... Lekarzom nie uda\u0142o si\u0119 mnie zdiagnozowa\u0107, nawet po biopsji mi\u0119\u015bni. Powiedzieli mi, \u017ce mam dystrofi\u0119 mi\u0119\u015bniow\u0105 i musz\u0119 zrobi\u0107 inne testy genetyczne, ale nie wiedzieli jakie (choroba Pompego i Duchenne'a\/Beckera by\u0142y negatywne). Zacz\u0105\u0142em wi\u0119c szuka\u0107 informacji i wys\u0142a\u0142em swoje analizy do Niemiec. Tylko Centogen odpowiedzia\u0142 i wys\u0142a\u0142 mnie do genetyka.<\/p>\n

Czy masz innych cz\u0142onk\u00f3w rodziny cierpi\u0105cych na LGMD?\u00a0 <\/strong><\/p>\n

Nie, jestem jedyn\u0105 osob\u0105 w mojej rodzinie, u kt\u00f3rej zdiagnozowano LGMD2A.<\/p>\n

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

To bardzo trudne, \u017ce w wieku 25 lat najwi\u0119kszym wyzwaniem jest my\u015blenie, \u017ce mo\u017cna samodzielnie wchodzi\u0107 po schodach. Pochodz\u0119 z Rumunii i chocia\u017c jest to kraj w Unii Europejskiej, jest to kraj biedny i nie mamy warunk\u00f3w dla os\u00f3b z problemami, a kiedy ludzie widz\u0105, \u017ce wchodz\u0119 po schodach inaczej, patrz\u0105 na mnie podejrzliwie, czasami pytaj\u0105, dlaczego tak si\u0119 wspinam... Kolejnym wyzwaniem jest to, \u017ce kiedy upadam, nie mog\u0119 si\u0119 podnie\u015b\u0107. Ci\u0119\u017cko jest zawsze na kim\u015b polega\u0107...<\/p>\n

Jakie jest twoje najwi\u0119ksze osi\u0105gni\u0119cie?<\/strong>:<\/p>\n

\u017be budz\u0119 si\u0119 rano, mog\u0119 oddycha\u0107 i chodzi\u0107.<\/p>\n

Jak LGMD wp\u0142yn\u0119\u0142o na to, \u017ce sta\u0142e\u015b si\u0119 osob\u0105, kt\u00f3r\u0105 jeste\u015b dzisiaj: \u00a0<\/strong><\/p>\n

Czyta\u0142em wszystkie wywiady z osobami, kt\u00f3re cierpi\u0105 na t\u0119 sam\u0105 chorob\u0119 co ja i zauwa\u017cy\u0142em, \u017ce wszyscy uwa\u017caj\u0105, \u017ce dostali lepsz\u0105 wersj\u0119 siebie, ale w moim przypadku my\u015bl\u0119, \u017ce by\u0142o odwrotnie. Sta\u0142em si\u0119 osob\u0105 z wieloma l\u0119kami. Na przyk\u0142ad, boj\u0119 si\u0119 nawet schod\u00f3w w poci\u0105gu, poniewa\u017c s\u0105 bardzo wysokie...<\/p>\n

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

Na pocz\u0105tek chc\u0119, aby \u015bwiat dowiedzia\u0142 si\u0119 o Rumunii i o tym, \u017ce bardzo trudno jest nam postawi\u0107 diagnoz\u0119. Jeste\u015bmy biednym krajem. Czy wiesz, ile wynosi minimalna pensja w naszym kraju? 266 euro. Czy wiesz, ile p\u0142ac\u0119 za sam test genetyczny? 1 660 euro... Moje badania sugeruj\u0105, \u017ce w Rumunii jest wiele os\u00f3b z dystrofi\u0105 mi\u0119\u015bniow\u0105, ale nie sta\u0107 ich na wizyt\u0119 u lekarza, a zw\u0142aszcza na wykonanie bada\u0144 genetycznych. Chcia\u0142bym, aby ci, kt\u00f3rzy pracuj\u0105 w badaniach klinicznych, przestali m\u00f3wi\u0107, \u017ce nie pracuj\u0105 z lud\u017ami z Rumunii ...<\/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

Zdecydowanie wystartowa\u0142bym, a nast\u0119pnie stara\u0142 si\u0119 pom\u00f3c jak najwi\u0119kszej liczbie os\u00f3b w uzyskaniu dost\u0119pu do leczenia.<\/p>\n

 <\/p>\n

*** Prosimy o LIKE, COMMENT i SHARE tego postu, aby pom\u00f3c zwi\u0119kszy\u0107 \u015bwiadomo\u015b\u0107 na temat LGMD!
\n*** Aby przeczyta\u0107 wi\u0119cej wywiad\u00f3w \"LGMD Spotlight Interviews\" lub zg\u0142osi\u0107 si\u0119 do udzia\u0142u w nadchodz\u0105cym wywiadzie, odwied\u017a nasz\u0105 stron\u0119 internetow\u0105 pod adresem 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\/pl\/individuals-with-lgmd-interviews\/2018\/05\/11\/anamaria\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Anamaria - 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