{"id":3643,"date":"2020-09-15T17:53:22","date_gmt":"2020-09-15T22:53:22","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=3643"},"modified":"2024-02-09T14:24:30","modified_gmt":"2024-02-09T14:24:30","slug":"kaya","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/tr\/individuals-with-lgmd-interviews\/2020\/09\/15\/kaya\/","title":{"rendered":"LGMD'L\u0130 B\u0130REY: Kaya"},"content":{"rendered":"
\"\"<\/figure><\/div>\n\n\n\n

LGMD \"SPOT I\u015eI\u011eI R\u00d6PORTAJI\" <\/strong><\/p>\n\n\n\n

\u0130sim<\/strong>: Kaya                           Ya\u015f<\/strong>: 18 ya\u015f\u0131nda<\/p>\n\n\n\n

\u00dclke<\/strong>: Hollanda<\/p>\n\n\n\n

LGMD Alt Tipi<\/strong>: LGMD 2D\/ R3 Alfa Sarkoglikan ile ili\u015fkili<\/p>\n\n\n\n

Ka\u00e7 ya\u015f\u0131nda te\u015fhis konuldu?<\/strong>: <\/p>\n\n\n\n

San\u0131r\u0131m bu \u00fc\u00e7\u00fcnc\u00fc do\u011fum g\u00fcn\u00fcm civar\u0131nda olmu\u015f olmal\u0131, ancak \u00e7ok fazla hat\u0131rlad\u0131\u011f\u0131m\u0131 s\u00f6yleyemem. Te\u015fhisi \u00e7ok erken koymu\u015ftuk.<\/p>\n\n\n\n

\u0130lk belirtileriniz neydi?<\/strong>:<\/p>\n\n\n\n

K\u0131z karde\u015fimle hemen hemen ayn\u0131 anda do\u011fdum ve ilk belirtim emeklemeye ba\u015flad\u0131\u011f\u0131mda ortaya \u00e7\u0131kt\u0131, sa\u011fl\u0131kl\u0131 olan k\u0131z karde\u015fim normal bir bebek gibi emeklerken ben bir baca\u011f\u0131m di\u011ferinin \u00f6n\u00fcnde olacak \u015fekilde garip bir \u015fekilde emekledim. Bir akupunktur uzman\u0131 ve ailenin harika bir arkada\u015f\u0131 bunu fark etti ve annemi uyard\u0131, dolay\u0131s\u0131yla erken te\u015fhis konuldu. Bir s\u00fcre sonra ortaya \u00e7\u0131kan bir ba\u015fka belirti de d\u00fc\u015fmemdi. Bu durum okula ilk ba\u015flad\u0131\u011f\u0131mda ve ya\u015f\u0131tlar\u0131ma ayak uydurmaya \u00e7al\u0131\u015f\u0131rken ortaya \u00e7\u0131kt\u0131. Klinik bir deneyle gen terapisi ald\u0131ktan sonra, bu ikinci semptom \u00e7ok b\u00fcy\u00fck \u00f6l\u00e7\u00fcde azald\u0131 ve yakla\u015f\u0131k iki y\u0131ld\u0131r d\u00fc\u015fmedim ki san\u0131r\u0131m bu \u00e7o\u011fu sa\u011fl\u0131kl\u0131 insan\u0131n tekrarlayamayaca\u011f\u0131 bir skor.<\/p>\n\n\n\n

LGMD hastas\u0131 olan ba\u015fka aile \u00fcyeleriniz var m\u0131?<\/strong><\/p>\n\n\n\n

Hay\u0131r, ailemde bir tek ben var\u0131m.<\/p>\n\n\n\n

LGMD ile ya\u015faman\u0131n en b\u00fcy\u00fck zorluklar\u0131n\u0131n ne oldu\u011funu d\u00fc\u015f\u00fcn\u00fcyorsunuz?<\/strong>:<\/p>\n\n\n\n

Benim i\u00e7in LGMD ile ya\u015famak m\u00fccadeleye devam etmek anlam\u0131na geliyor. Her g\u00fcn egzersiz yap\u0131yorum. Sadece iki kez be\u015f dakikal\u0131k \u00e7apraz egzersiz, iki kez bir dakikal\u0131k planking gibi temel \u015feyler. Ve baz\u0131 g\u00fcnler pozitif bir zihne sahip olmak ve yapt\u0131\u011f\u0131m kadar s\u0131k\u0131 \u00e7al\u0131\u015fmak i\u00e7in motivasyon bulmak zor oluyor. Herkesin LGMD ile sava\u015fmak i\u00e7in farkl\u0131 bir yolu var, benim yolum olduk\u00e7a ger\u00e7ek\u00e7i ve do\u011frudan bir yakla\u015f\u0131m ve \u015fimdiye kadar bana iyi hizmet etti. Ancak benim ya\u015f\u0131mdaki insanlarla payla\u015fmad\u0131\u011f\u0131m bu tutumun bir bedeli var, bu da beni onlarla herhangi bir ba\u011f kurmakta zorlanmaya ve Koronavir\u00fcs kilitlenmesinden \u00f6nce bile sosyal izolasyona itiyor.<\/p>\n\n\n\n

En b\u00fcy\u00fck ba\u015far\u0131n\u0131z nedir?<\/strong>:<\/p>\n\n\n\n

H\u00e2l\u00e2 buraday\u0131m ve hi\u00e7 olmad\u0131\u011f\u0131m kadar g\u00fc\u00e7leniyorum. Daha \u00f6nce de belirtti\u011fim gibi bir klinik deneyde gen tedavisi ald\u0131m. Bu tedaviden sonra v\u00fccudumu olmas\u0131n\u0131 istedi\u011fim yere getirmek i\u00e7in \u00e7al\u0131\u015fmaya ba\u015flad\u0131m. Denemeden \u00f6nce herhangi bir hasar\u0131 en aza indirmek i\u00e7in \u00e7ok \u00e7al\u0131\u015ft\u0131m, ki bu gen\u00e7 bir \u00e7ocuk i\u00e7in her zaman sorumlu olmak ve her zaman lezzetli oldu\u011fu bilinmeyen bir\u00e7ok takviye almak olduk\u00e7a zor, sonra denemeyi ald\u0131ktan sonra spora gittim ve kendimi daha g\u00fc\u00e7l\u00fc ve genel olarak daha iyi bir durumda hissettim. LGMD'yi yendi\u011fimi s\u00f6ylemek erken ve dolay\u0131s\u0131yla aptalca ama \u015fu anda ona tek parmak selam\u0131 verdi\u011fimi s\u00f6ylemekten mutluluk duyar\u0131m.<\/p>\n\n\n\n

LGMD bug\u00fcn oldu\u011funuz ki\u015fi olman\u0131zda sizi nas\u0131l etkiledi?<\/strong><\/p>\n\n\n\n


Gen\u00e7 bir \u00e7ocuk olarak LGMD beni \u00e7ok sorumlu olmaya zorlad\u0131 \u00e7\u00fcnk\u00fc her yanl\u0131\u015f hareketimde d\u00fc\u015f\u00fcp bir \u015feyler k\u0131rabilirdim. Ayr\u0131ca beni sahip oldu\u011fum her \u015feyi vermeye ve elimden gelenin en iyisini yapmaya ve m\u00fccadele edilemez olanla m\u00fccadele etmeye zorlad\u0131. Ayr\u0131ca hayat\u0131 ve ya\u015fad\u0131\u011f\u0131m t\u00fcm g\u00fczel zamanlar\u0131 takdir etmemi sa\u011flad\u0131. De\u011ferlerimi ve \u00f6nceliklerimi etkiledi. T\u00fcm bu etkiler, dinledi\u011fim ve yapt\u0131\u011f\u0131m m\u00fczikten okuldaki \u00e7al\u0131\u015fma eti\u011fime ve etraf\u0131mda olmay\u0131 sevdi\u011fim insanlara kadar beni tan\u0131mlayan her \u015feyde g\u00f6r\u00fclebilir.<\/p>\n\n\n\n

D\u00fcnyan\u0131n LGMD hakk\u0131nda ne bilmesini istersiniz?<\/strong>:<\/p>\n\n\n\n

D\u00fcnyan\u0131n, insanlar\u0131n bize yard\u0131m etmek i\u00e7in yorulmadan \u00e7al\u0131\u015ft\u0131\u011f\u0131n\u0131 bilmesini istiyorum. Kesin tedavi i\u00e7in kullan\u0131lan muazzam laboratuarlar\u0131 ve tesisleri g\u00f6rd\u00fcm ve baz\u0131 iyi \u015feyler \u00fczerinde \u00e7al\u0131\u015ft\u0131klar\u0131n\u0131 ilk elden deneyimledim. Umutsuzlu\u011funuzu hafifletmek ve bu alanda inan\u0131lmaz bir h\u0131zla ilerleme kaydedildi\u011fini s\u00f6ylemek isterim. Ve bir g\u00fcn size garanti veriyorum, 'Merhaba, san\u0131r\u0131m sizin i\u00e7in bir \u015feyim var' diyen bir telefon gelecek.<\/p>\n\n\n\n

LGMD hastal\u0131\u011f\u0131n\u0131z yar\u0131n \"tedavi edilebilseydi\", yapmak isteyece\u011finiz ilk \u015fey ne olurdu?<\/strong>:<\/p>\n\n\n\n

T\u00fcm eski LGMD \u00e7al\u0131\u015fanlar\u0131n\u0131 ve muhte\u015fem ara\u015ft\u0131rmac\u0131lar\u0131 tebrik etmek yerinde olacakt\u0131r.<\/p>\n\n\n\n

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: http:\/\/lgmd-info.org\/spotlight-interviews<\/a><\/p>","protected":false},"excerpt":{"rendered":"

LGMD \u201cSPOTLIGHT INTERVIEW\u201d  Name: Kaya                           Age:  18 yrs. old Country: […]<\/p>","protected":false},"author":1,"featured_media":3654,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,28],"tags":[],"class_list":["post-3643","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2d"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Kaya - 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\/tr\/individuals-with-lgmd-interviews\/2020\/09\/15\/kaya\/\" \/>\n<meta property=\"og:locale\" content=\"tr_TR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Kaya - 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