{"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\/pl\/individuals-with-lgmd-interviews\/2016\/01\/30\/thomas\/","title":{"rendered":"OSOBA Z LGMD: Thomas"},"content":{"rendered":"<p>01\/30\/2016<\/p>\n<p><strong>LGMD \"Wywiad w \u015bwietle reflektor\u00f3w\"<\/strong><\/p>\n<p><strong>Nazwa<\/strong>:  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 <strong>AG<\/strong>E: 31<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2016\/01\/LGMD2B-Thomas.png\" rel=\"attachment wp-att-1139\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1139 alignright\" src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%27http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%27%20width%3D%27300%27%20height%3D%27169%27%20viewBox%3D%270%200%20300%20169%27%3E%3Crect%20width%3D%27300%27%20height%3D%27169%27%20fill-opacity%3D%220%22%2F%3E%3C%2Fsvg%3E\" data-orig-src=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2016\/01\/LGMD2B-Thomas-300x169.png\" alt=\"LGMD2B - Thomas\" width=\"300\" height=\"169\" \/><\/a><\/p>\n<p><strong>KRAJ<\/strong>: Szwajcaria<\/p>\n<p><strong>Podtyp LGMD<\/strong>: LGMD 2B \/ Miyoshi Myopathy<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>W jakim wieku zosta\u0142e\u015b zdiagnozowany?<\/strong>:<\/p>\n<p>Moja pierwsza diagnoza (biopsja) mia\u0142a miejsce w wieku 28 lat, a rok p\u00f3\u017aniej potwierdzono j\u0105 testem genetycznym.<\/p>\n<p><strong>Jakie by\u0142y pierwsze objawy?<\/strong>:<\/p>\n<p>To nie jest takie proste. Teraz wiem, na co musz\u0119 zwr\u00f3ci\u0107 uwag\u0119, wi\u0119c pojawi\u0142o si\u0119 wiele przyk\u0142ad\u00f3w z moich wspomnie\u0144; w dzieci\u0144stwie mieli\u015bmy stromo wznosz\u0105ce si\u0119 schody wok\u00f3\u0142 naszego domu, po kt\u00f3rych zawsze mia\u0142em trudno\u015bci z wej\u015bciem, poniewa\u017c stopnie by\u0142y bardzo kr\u00f3tkie. W wieku nastoletnim zacz\u0105\u0142em je\u017adzi\u0107 na snowboardzie, gdzie nie by\u0142em w stanie wywiera\u0107 du\u017cego nacisku na przedni\u0105 kraw\u0119d\u017a deski. Jako m\u0142ody doros\u0142y nie mog\u0142em skaka\u0107 do muzyki w dyskotekach. W wieku 24\/25 lat zda\u0142em sobie spraw\u0119, \u017ce nie jestem w stanie sta\u0107 na palcach, a moje mi\u0119\u015bnie \u0142ydek w\u0142a\u015bciwie nie istniej\u0105. W ci\u0105gu ostatnich kilku lat zauwa\u017cy\u0142em, \u017ce moje mi\u0119\u015bnie n\u00f3g i ramion skracaj\u0105 si\u0119.<\/p>\n<p>W wieku 18 lat lekarz powiedzia\u0142 mi, \u017ce mam zbyt wysokie warto\u015bci kinazy kreatynowej we krwi. Wynosi\u0142y one oko\u0142o 250-300, czyli by\u0142y zbyt niskie w przypadku dobrze znanych chor\u00f3b i zbyt wysokie, by by\u0107 w normie. Teraz wiem, \u017ce by\u0142 to pierwszy medyczny wska\u017anik dla Miyoshi.<\/p>\n<p><strong>Czy masz innych cz\u0142onk\u00f3w rodziny cierpi\u0105cych na LGMD?<\/strong><\/p>\n<p>Tak, moja siostra te\u017c ma LGMD. Jej objawy (stanie na palcach, kinaza kreatynowa) s\u0105 takie same, ale wydaje si\u0119 by\u0107 mniej dotkni\u0119ta.<\/p>\n<p><strong>Co uwa\u017casz za najwi\u0119ksze wyzwanie w \u017cyciu z LGMD?<\/strong>:<\/p>\n<p>Moim zdaniem najwi\u0119kszym wyzwaniem jest zaakceptowanie tego wyzwania! W pierwszym momencie po diagnozie trudno by\u0142o to zaakceptowa\u0107. Potrzeba si\u0142y psychicznej, aby sobie z tym poradzi\u0107. R\u00f3wnie\u017c patrz\u0105c na przebieg choroby, nie nale\u017cy przecenia\u0107 ani bagatelizowa\u0107 objaw\u00f3w i skutk\u00f3w. Patrz\u0105c w przysz\u0142o\u015b\u0107, zawsze trzeba planowa\u0107 wszystko z my\u015bl\u0105 o LGMD (by\u0107 mo\u017ce b\u0119dziesz potrzebowa\u0107 w\u00f3zka inwalidzkiego za 5, 7 lub 10 lat).<\/p>\n<p><strong>Jakie jest twoje najwi\u0119ksze osi\u0105gni\u0119cie?<\/strong>:<\/p>\n<p>Zaakceptowa\u0107 LGMD i cieszy\u0107 si\u0119 robieniem rzeczy, kt\u00f3rych nie b\u0119d\u0119 m\u00f3g\u0142 robi\u0107 w przysz\u0142o\u015bci.<\/p>\n<p><strong>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<p>Moja diagnoza pojawi\u0142a si\u0119 na pocz\u0105tku studi\u00f3w magisterskich. Opr\u00f3cz studi\u00f3w licencjackich i magisterskich (studia dzienne) pracowa\u0142em w weekendy i wakacje szkolne. Teraz pracuj\u0119 w niepe\u0142nym wymiarze godzin i mam dobry pow\u00f3d, aby cieszy\u0107 si\u0119 wolnym czasem z \u017con\u0105, naszymi psami i ogrodem. Bardziej ceni\u0119 to, co mam teraz.<\/p>\n<p><strong>Co chcia\u0142by\u015b, aby \u015bwiat dowiedzia\u0142 si\u0119 o LGMD?<\/strong>:<\/p>\n<p>\u017be istnieje. My\u015bl\u0119, \u017ce istnieje wiele niezarejestrowanych przypadk\u00f3w LGMD.<\/p>\n<p><strong>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<p>W\u0142a\u015bnie straci\u0142em prawo jazdy na ci\u0119\u017car\u00f3wki i autokary z powodu Miyoshi. To by\u0142a nie tylko praca, kt\u00f3ra finansowa\u0142a moje studia, ale tak\u017ce moje hobby. Wi\u0119c odzyska\u0142em je i je\u017adzi\u0142em po okolicy.<\/p>\n<p>&nbsp;<\/p>\n<p>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: https:\/\/www.lgmd-info.org\/spotlight-interviews.<\/p>\n<p>&nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>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 [&hellip;]<\/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":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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