{"id":1382,"date":"2016-10-26T14:12:37","date_gmt":"2016-10-26T19:12:37","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1382"},"modified":"2016-10-26T14:12:37","modified_gmt":"2016-10-26T19:12:37","slug":"amie","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/tr\/individuals-with-lgmd-interviews\/2016\/10\/26\/amie\/","title":{"rendered":"LGMD'L\u0130 B\u0130REY: Amie"},"content":{"rendered":"<p><strong>LGMD \"SPOT I\u015eI\u011eI R\u00d6PORTAJI\"<\/strong><\/p>\n<p><strong>\u0130sim<\/strong>:  Amie\u00a0 <strong>Ya\u015f<\/strong>: 31 ya\u015f\u0131nda<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2016\/10\/LGMD2J-Amie.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1381 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\/10\/LGMD2J-Amie-300x169.png\" alt=\"lgmd2j-amie\" width=\"300\" height=\"169\" \/><\/a><\/p>\n<p><strong>\u00dclke<\/strong>: Birle\u015fik Devletler<\/p>\n<p><strong>LGMD Alt Tipi<\/strong>:  LGMD2J (Titinopati)<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Ka\u00e7 ya\u015f\u0131nda te\u015fhis konuldu?<\/strong>:<\/p>\n<p>Bana 31 ya\u015f\u0131nda Titinopati olarak da bilinen LGMD2J te\u015fhisi kondu.<\/p>\n<p><strong>\u0130lk belirtileriniz neydi?<\/strong>:<\/p>\n<p>Bacaklar\u0131mla ve y\u00fcr\u00fcmemle ilgili her zaman sorun ya\u015fad\u0131m, ancak her zaman bunun k\u0131sa A\u015fil tendonlar\u0131ndan kaynakland\u0131\u011f\u0131 s\u00f6ylendi. Onlar\u0131 uzatmak i\u00e7in ameliyatlar ge\u00e7irdikten sonra bald\u0131rlar\u0131m k\u00f6reldi. Kar\u0131n kaslar\u0131m zay\u0131f g\u00f6r\u00fcn\u00fcyordu ve ben hep bunun iki sezaryen ge\u00e7irmekten kaynakland\u0131\u011f\u0131n\u0131 d\u00fc\u015f\u00fcnd\u00fcm. Bu y\u0131la kadar v\u00fccudum zay\u0131flama konusunda ciddi bir de\u011fi\u015fim g\u00f6sterdi ve art\u0131k bunu g\u00f6rmezden gelemezdim, bu y\u00fczden cevaplar\u0131 bulmay\u0131 kendime g\u00f6rev edindim.<\/p>\n<p><strong>LGMD hastas\u0131 olan ba\u015fka aile \u00fcyeleriniz var m\u0131?<\/strong><\/p>\n<p>Bilinen hi\u00e7bir aile \u00fcyesi bu hastal\u0131ktan muzdarip de\u011fildir.<\/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>LGMD hastal\u0131\u011f\u0131m\u0131n bir\u00e7ok zorlu\u011fu var. Her g\u00fcn \"normal\" g\u00fcnl\u00fck aktivitelerle m\u00fccadele ediyorum: bir odan\u0131n kar\u015f\u0131s\u0131na ge\u00e7mek, oturur pozisyondan aya\u011fa kalkmak, bir basamak veya yoku\u015f \u00e7\u0131kmak, bir kamyona t\u0131rmanmak, e\u011filmek, dengede durmak vb. Bazen sinir bozucu olabiliyor. Hissetti\u011fim s\u00fcrekli a\u011fr\u0131 y\u00fcz\u00fcnden pek \u00e7ok \u015feyi ka\u00e7\u0131r\u0131yorum. E\u011fer \u00e7ok fazla \u015fey yaparsam (ki bu \u00e7ok fazla bir \u015fey gerektirmiyor), bu beni g\u00fcnlerce uyutmuyor. Neyin \u00f6nemli olup olmad\u0131\u011f\u0131n\u0131 se\u00e7mem gerekiyor. T\u00fcm bunlar, y\u00fck\u00fcn\u00fc ta\u015f\u0131d\u0131\u011f\u0131m ailemin hayat\u0131n\u0131 da etkiliyor. LGMD kesinlikle \u00f6zg\u00fcrl\u00fc\u011f\u00fcm\u00fcn bir k\u0131sm\u0131n\u0131 elimden ald\u0131, bununla ba\u015fa \u00e7\u0131kmak zor, ancak olumlu bir zihniyete sahip olmaya \u00e7al\u0131\u015f\u0131yorum!<\/p>\n<p><strong>En b\u00fcy\u00fck ba\u015far\u0131n\u0131z nedir?<\/strong>:<\/p>\n<p>En b\u00fcy\u00fck ba\u015far\u0131m bir anne, e\u015f ve k\u0131z karde\u015f olmak! \u0130ki g\u00fczel k\u0131z\u0131m, harika bir kocam ve herkesin isteyebilece\u011fi en destekleyici ailem var. Pozitif kalmam\u0131n ve \"bir k\u0131z gibi sava\u015fmam\u0131n\" nedeni onlar! Hayat\u0131m boyunca tek istedi\u011fim anne olmak ve sevgi dolu bir aileye sahip olmakt\u0131! Kesinlikle kutsanm\u0131\u015f durumday\u0131m!<\/p>\n<p><strong>LGMD bug\u00fcn oldu\u011funuz ki\u015fi olman\u0131zda sizi nas\u0131l etkiledi?<\/strong><\/p>\n<p>Te\u015fhisim olduk\u00e7a yeni olmas\u0131na ra\u011fmen, i\u00e7ten i\u00e7e bir \u015feylerin yanl\u0131\u015f oldu\u011funu hep biliyordum. Asl\u0131nda n\u00f6rolo\u011fumdan tan\u0131 almadan \u00f6nce kendime LGMD te\u015fhisi koymu\u015ftum. Bu y\u00fczden test sonu\u00e7lar\u0131 geldi\u011finde garip bir sevin\u00e7 hissettim. Sonunda bir te\u015fhisim vard\u0131! Bu hastal\u0131\u011f\u0131n bana hen\u00fcz cevab\u0131n\u0131 bulamad\u0131\u011f\u0131m bir nedenden dolay\u0131 verildi\u011fini hissediyorum. Her \u015feyin bir nedeni oldu\u011funa ve zamanlaman\u0131n her \u015fey oldu\u011funa ger\u00e7ekten inan\u0131yorum. LGMD, b\u00f6lgemde kesinlikle bilinmeyen \u00e7ok nadir bir hastal\u0131k, bu y\u00fczden m\u00fcmk\u00fcn oldu\u011funca \u00e7ok ara\u015ft\u0131rma yapaca\u011f\u0131m ve m\u00fcmk\u00fcn oldu\u011funca \u00e7ok insana savunuculuk yapaca\u011f\u0131m. Kaslar\u0131m olmasa da g\u00fc\u00e7l\u00fc oldu\u011fumu biliyorum. Hayattaki k\u00fc\u00e7\u00fck \u015feylerden zevk al\u0131yorum ve anlar\u0131 ya\u015f\u0131yorum! Ayr\u0131ca her durumda olumlu olan\u0131 ar\u0131yorum. Hayat olumsuzluklara odaklanmak i\u00e7in \u00e7ok k\u0131sa!<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>D\u00fcnyan\u0131n LGMD hakk\u0131nda ne bilmesini istersiniz?<\/strong>:<\/p>\n<p>D\u00fcnyan\u0131n 43.000 ki\u015fiden 1'inin Ekstremite Ku\u015fa\u011f\u0131 Kas Distrofisi hastas\u0131 oldu\u011funu bilmesini istiyorum. Ne yaz\u0131k ki bu hastal\u0131\u011f\u0131n tedavisi yok.  Nadir g\u00f6r\u00fclmesi nedeniyle, ara\u015ft\u0131rmalar i\u00e7in daha az fon bulunmakta ve bu da beni bir tedaviden daha uzak tutmaktad\u0131r. LGMD her aileye girebilir ve hayatlar\u0131 g\u00fcnl\u00fck olarak etkiler. Sonunda bu hastal\u0131\u011f\u0131n y\u00fcr\u00fcme yetene\u011fimi elimden alaca\u011f\u0131n\u0131 \u00f6ng\u00f6r\u00fcyorum, ancak elimden geldi\u011fince sava\u015faca\u011f\u0131m!<\/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>Nereden ba\u015flasam? K\u0131zlar\u0131m\u0131 Disney World'e ve ard\u0131ndan Colorado'da y\u00fcr\u00fcy\u00fc\u015fe g\u00f6t\u00fcr\u00fcrd\u00fcm! S\u0131rf yapabildi\u011fim i\u00e7in bir kat merdiven \u00e7\u0131kard\u0131m! Al\u0131\u015fveri\u015f yapmak, dans etmek ve hatta banyo yapmak gibi yapt\u0131\u011f\u0131m k\u00fc\u00e7\u00fck \u015feyleri \u00f6zl\u00fcyorum! Elinizden gidene kadar kaybetti\u011finiz \u00f6zg\u00fcrl\u00fc\u011f\u00fcn fark\u0131na varam\u0131yorsunuz!<\/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: <a href=\"https:\/\/www.lgmd-info.org\/tr\/spotlight-interviews\/\">https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>LGMD \u201cSPOTLIGHT INTERVIEW\u201d Name:\u00a0 Amie\u00a0 Age: 31 yrs old Country: [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1381,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,66],"tags":[68,16],"class_list":["post-1382","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2j","tag-lgmd2j-titinopathy","tag-united-states"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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