{"id":5588,"date":"2022-01-07T02:44:43","date_gmt":"2022-01-07T02:44:43","guid":{"rendered":"https:\/\/www.lgmd-info.org\/?p=5588"},"modified":"2024-02-09T14:23:57","modified_gmt":"2024-02-09T14:23:57","slug":"individual-with-lgmd-sophia","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/tr\/individuals-with-lgmd-interviews\/2022\/01\/07\/individual-with-lgmd-sophia\/","title":{"rendered":"LGMD'L\u0130 B\u0130REY: Sophia"},"content":{"rendered":"

\"<\/p>\n

LGMD \"Spotlight R\u00f6portaj\u0131\" <\/strong><\/h2>\n

\u0130sim<\/strong>: Sophia<\/p>\n

Ya\u015f<\/strong>: \u00a08<\/p>\n

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

LGMD Alt Tipi<\/strong>: LGMD 2A\/R1 calpain 3 ile ili\u015fkili<\/p>\n

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

Bana resmi olarak 6 ya\u015f\u0131mda genetik kan testi ile te\u015fhis konuldu.<\/p>\n

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

Ben 4,5 ya\u015f\u0131ndayken zat\u00fcrre olmu\u015fum ve annem uzun s\u00fcre hasta oldu\u011fum i\u00e7in beni kan tahliline getirmi\u015f. Karaci\u011fer enzim seviyelerim \u00e7ok y\u00fcksekti, bu y\u00fczden doktorlar bunun bir nedenini aramaya ba\u015flad\u0131lar. Ayr\u0131ca ayak parmaklar\u0131m\u0131n \u00fczerinde y\u00fcr\u00fcmeye ba\u015flad\u0131m. Bir\u00e7ok hastaneye girip \u00e7\u0131kt\u0131m ve 1,5 y\u0131l boyunca yanl\u0131\u015f te\u015fhisler konuldu. Korkutucuydu ama \u00e7ok cesurdum.<\/p>\n

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

Bildi\u011fimiz kadar\u0131yla hay\u0131r.<\/p>\n

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

En b\u00fcy\u00fck zorluklar\u0131m uzaklara y\u00fcr\u00fcmek zorunda kalmak, bacaklar\u0131m\u0131n \u00e7ok yorulmas\u0131 ve \u00e7ocuklar\u0131n oyun oynarken bacaklar\u0131m\u0131 ve kollar\u0131m\u0131 yoraca\u011f\u0131n\u0131 bildi\u011fim \u015feyler yapt\u0131\u011f\u0131n\u0131 g\u00f6rmek. Eskiden maymun \u00e7ubuklar\u0131n\u0131 da yapabiliyordum. Bu beni \u00fcz\u00fcyor. Ailem her zaman bir \u015feyler yapmama yard\u0131m etmenin yollar\u0131n\u0131 buluyor, ancak benim ya\u015f\u0131mdaki di\u011fer \u00e7ocuklar\u0131n ko\u015fup oynamas\u0131n\u0131 ve benim gibi \u00e7abuk yorulmamas\u0131n\u0131 izlemek hala zor.<\/p>\n

En b\u00fcy\u00fck ba\u015far\u0131lar\u0131n\u0131z nelerdir?<\/strong><\/p>\n

\u00dc\u00e7 arkada\u015f\u0131mla konu\u015ftum.rd<\/sup> Yeni okulumdaki ilkokul s\u0131n\u0131f\u0131na ger\u00e7ekten korkmama ra\u011fmen LGMD2A hastal\u0131\u011f\u0131m hakk\u0131nda bilgi verdim. Di\u011fer \u00e7ocuklar\u0131n te\u015fhis konulmas\u0131 i\u00e7in bu kadar \u00e7ok \u015fey ya\u015famak zorunda kalmamas\u0131 ve bize bir tedavi bulunmas\u0131na yard\u0131mc\u0131 olmak i\u00e7in fark\u0131ndal\u0131\u011f\u0131n yay\u0131lmas\u0131na yard\u0131mc\u0131 oluyorum. Kas distrofim olmas\u0131na ra\u011fmen sirk kamp\u0131 ve s\u0131rt b\u00fckme hareketleri yapabiliyorum. Zor olaca\u011f\u0131n\u0131 bilsem bile bunun beni yeni \u015feyler denemekten al\u0131koymas\u0131na izin vermiyorum. Ayr\u0131ca arkada\u015flar\u0131mla oynayabilmek i\u00e7in elektrikli bisiklet s\u00fcrmeyi de \u00f6\u011frendim.<\/p>\n

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

Bu beni \u00e7ok cesur yapt\u0131. \u0130nsanlar\u0131n \u00f6n\u00fcnde d\u00fc\u015fme ve hastane ziyaretleri korkular\u0131mla y\u00fczle\u015fiyorum ve bu beni g\u00fc\u00e7l\u00fc k\u0131l\u0131yor. \u0130nsanlar\u0131n engellerini ya da bak\u0131\u015flar\u0131n\u0131 g\u00f6rm\u00fcyorum, onlar\u0131 g\u00f6r\u00fcyorum. Ayr\u0131ca kendimi oldu\u011fum gibi kabul etmeyi \u00f6\u011freniyorum.<\/p>\n

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

\u00c7ok mutlu bir hayat\u0131n\u0131z olabilir ve ebeveynlerin benim gibi \u00e7ocuklar\u0131n kas distrofisi zorluklar\u0131na ra\u011fmen mutlu olduklar\u0131n\u0131 bilmeleri gerekir. Bu hastal\u0131\u011fa sahip olmama ra\u011fmen, etrafta dola\u015fman\u0131n yollar\u0131n\u0131 buluyorum ve ihtiyac\u0131m oldu\u011funda tekerlekli sandalyemi kullan\u0131yorum. Bu her zaman kolay de\u011fil ve v\u00fccudunuz istedi\u011finiz gibi \u00e7al\u0131\u015fmad\u0131\u011f\u0131nda korkutucu olabiliyor. D\u00fcnyan\u0131n benim gibi \u00e7ocuklar\u0131n bir tedavi bekledi\u011fini bilmesini istiyorum.<\/p>\n

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

Ger\u00e7ekten h\u0131zl\u0131 ve uzun ko\u015fmak, normal bisiklete binmek, maymun \u00e7ubuklar\u0131 ve bir\u00e7ok jimnastik yapmak isterdim.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"featured_media":5587,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,14],"tags":[70],"class_list":["post-5588","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2a","tag-lgmd2a-calpainopathy-united-states"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Sophia - 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\" 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