{"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\/tr\/individuals-with-lgmd-interviews\/2016\/01\/30\/thomas\/","title":{"rendered":"LGMD'L\u0130 B\u0130REY: Thomas"},"content":{"rendered":"<p>01\/30\/2016<\/p>\n<p><strong>LGMD \"Spotlight r\u00f6portaj\u0131\"<\/strong><\/p>\n<p><strong>\u0130sim<\/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>\u00dcLKE<\/strong>: \u0130svi\u00e7re<\/p>\n<p><strong>LGMD Alt Tipi<\/strong>: LGMD 2B \/ Miyoshi Miyopatisi<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>Ka\u00e7 ya\u015f\u0131nda te\u015fhis konuldu?<\/strong>:<\/p>\n<p>\u0130lk te\u015fhisim (biyopsi) 28 ya\u015f\u0131ndayken konuldu ve bir y\u0131l sonra genetik testle kan\u0131tland\u0131.<\/p>\n<p><strong>\u0130lk belirtileriniz neydi?<\/strong>:<\/p>\n<p>Bunu s\u00f6ylemek o kadar kolay de\u011fil. \u015eimdi nereye bakmam gerekti\u011fini biliyorum, an\u0131lar\u0131mdan o kadar \u00e7ok \u00f6rnek \u00e7\u0131kt\u0131 ki; \u00e7ocuklu\u011fumda evimizin etraf\u0131nda dik y\u00fckselen bir merdiven vard\u0131, basamaklar \u00e7ok k\u0131sa oldu\u011fu i\u00e7in t\u0131rmanmakta hep zorlan\u0131rd\u0131m. Ergenlik \u00e7a\u011f\u0131mda snowboard yapmaya ba\u015flad\u0131m, orada tahtan\u0131n \u00f6n kenar\u0131na fazla bask\u0131 uygulayam\u0131yordum. Gen\u00e7 bir yeti\u015fkin olarak diskolarda m\u00fczik e\u015fli\u011finde z\u0131playam\u0131yordum. 24 \/ 25 ya\u015flar\u0131nda ayak parmaklar\u0131m\u0131n \u00fczerinde duramad\u0131\u011f\u0131m\u0131 ve bald\u0131r kaslar\u0131m\u0131n asl\u0131nda hi\u00e7 olmad\u0131\u011f\u0131n\u0131 fark ettim. Son birka\u00e7 y\u0131lda bacak ve kol kaslar\u0131m\u0131n k\u0131sald\u0131\u011f\u0131n\u0131 g\u00f6rd\u00fcm.<\/p>\n<p>18 ya\u015f\u0131ndayken doktorum kan\u0131mda \u00e7ok y\u00fcksek kreatin kinaz de\u011ferleri oldu\u011funu s\u00f6yledi. Bu de\u011fer 250-300 civar\u0131ndayd\u0131, bilinen hastal\u0131klar i\u00e7in \u00e7ok d\u00fc\u015f\u00fck ve normal olamayacak kadar y\u00fcksekti. \u015eimdi bunun Miyoshi i\u00e7in ilk t\u0131bbi g\u00f6sterge oldu\u011funu biliyorum.<\/p>\n<p><strong>LGMD hastas\u0131 olan ba\u015fka aile \u00fcyeleriniz var m\u0131?<\/strong><\/p>\n<p>Evet, k\u0131z karde\u015fimde de LGMD var. Belirtileri (ayak parmaklar\u0131 \u00fczerinde durma, kreatin kinaz) ayn\u0131, ancak daha az etkilenmi\u015f g\u00f6r\u00fcn\u00fcyor.<\/p>\n<p><strong>LGMD ile ya\u015faman\u0131n en b\u00fcy\u00fck zorluklar\u0131n\u0131n ne oldu\u011funu d\u00fc\u015f\u00fcn\u00fcyorsunuz?<\/strong>:<\/p>\n<p>Bana g\u00f6re en b\u00fcy\u00fck zorluk bu zorlu\u011fu kabul etmektir! Te\u015fhisten sonraki ilk zamanlarda bunu kabul etmek zordu. Bununla ba\u015fa \u00e7\u0131kmak i\u00e7in psikolojik g\u00fcce ihtiyac\u0131n\u0131z var. Ayr\u0131ca hastal\u0131k seyrinize bakt\u0131\u011f\u0131n\u0131zda, semptomlar\u0131 ve etkileri abartmamak veya k\u00fc\u00e7\u00fcmsememek. Gelece\u011fe bakarak, her zaman LGMD'yi g\u00f6z \u00f6n\u00fcnde bulundurarak bir \u015feyler planlaman\u0131z gerekir (belki 5, 7 veya 10 y\u0131l i\u00e7inde tekerlekli sandalyeye ihtiyac\u0131n\u0131z olabilir).<\/p>\n<p><strong>En b\u00fcy\u00fck ba\u015far\u0131n\u0131z nedir?<\/strong>:<\/p>\n<p>LGMD'yi kabul etmek ve gelecekte yapamayaca\u011f\u0131m \u015feyleri yapmaktan zevk almak.<\/p>\n<p><strong>LGMD bug\u00fcn oldu\u011funuz ki\u015fi olman\u0131zda sizi nas\u0131l etkiledi?<\/strong><\/p>\n<p>Te\u015fhisim y\u00fcksek lisans e\u011fitimimin hemen ba\u015f\u0131nda geldi. Lisans ve y\u00fcksek lisans e\u011fitimimin (tam zamanl\u0131 e\u011fitim) yan\u0131 s\u0131ra hafta sonlar\u0131 ve okul tatillerinde \u00e7al\u0131\u015f\u0131yordum. \u015eimdi yar\u0131 zamanl\u0131 \u00e7al\u0131\u015f\u0131yorum ve e\u015fimle, k\u00f6peklerimizle ve bah\u00e7emizle bo\u015f zamanlar\u0131m\u0131n tad\u0131n\u0131 \u00e7\u0131karmak i\u00e7in iyi bir nedenim var. \u015eu anda sahip olduklar\u0131ma daha \u00e7ok de\u011fer veriyorum.<\/p>\n<p><strong>D\u00fcnyan\u0131n LGMD hakk\u0131nda ne bilmesini istersiniz?<\/strong>:<\/p>\n<p>Var oldu\u011funu. Kay\u0131tlara ge\u00e7memi\u015f pek \u00e7ok LGMD vakas\u0131 oldu\u011funu d\u00fc\u015f\u00fcn\u00fcyorum.<\/p>\n<p><strong>LGMD hastal\u0131\u011f\u0131n\u0131z yar\u0131n \"tedavi edilebilseydi\", yapmak isteyece\u011finiz ilk \u015fey ne olurdu?<\/strong>:<\/p>\n<p>Miyoshi y\u00fcz\u00fcnden kamyon ve otob\u00fcs ehliyetimi kaybettim. Bu sadece e\u011fitimimi finanse etmek i\u00e7in yapt\u0131\u011f\u0131m bir i\u015f de\u011fil, ayn\u0131 zamanda benim hobimdi. Bu y\u00fczden ehliyetimi geri al\u0131p etrafta dola\u015facakt\u0131m.<\/p>\n<p>&nbsp;<\/p>\n<p>Daha fazla \"LGMD Spotlight R\u00f6portaj\u0131\" okumak veya gelecek bir r\u00f6portajda yer almak i\u00e7in g\u00f6n\u00fcll\u00fc olmak i\u00e7in l\u00fctfen web sitemizi ziyaret edin: 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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