{"id":5544,"date":"2021-10-17T02:17:57","date_gmt":"2021-10-17T02:17:57","guid":{"rendered":"https:\/\/www.lgmd-info.org\/?p=5544"},"modified":"2024-02-09T14:23:59","modified_gmt":"2024-02-09T14:23:59","slug":"individual-with-lgmd-jade","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/tr\/individuals-with-lgmd-interviews\/2021\/10\/17\/individual-with-lgmd-jade\/","title":{"rendered":"LGMD'L\u0130 B\u0130REY: Jade"},"content":{"rendered":"

\"<\/p>\n

LGMD \"SPOT I\u015eI\u011eI R\u00d6PORTAJI\"<\/strong><\/h3>\n

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

Ya\u015f<\/strong>: 20 ya\u015f\u0131nda<\/p>\n

\u00dclke<\/strong>: Birle\u015fik Devletler<\/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

Resmi olarak Mart 2021'de te\u015fhis konuldu, bu y\u00fczden t\u00fcm bunlar benim i\u00e7in hala yeni.<\/p>\n

\u0130lk BEL\u0130RT\u0130LER\u0130N\u0130Z nelerdi?<\/strong><\/p>\n

Belirtileri ilk fark etti\u011fimde sadece susuz kald\u0131\u011f\u0131m\u0131 d\u00fc\u015f\u00fcnm\u00fc\u015ft\u00fcm. Halsiz hissediyordum, bacaklar\u0131m j\u00f6le gibiydi ve kal\u00e7alar\u0131mda a\u011fr\u0131 vard\u0131. \u015eimdi te\u015fhisimin fark\u0131nday\u0131m ve geriye d\u00f6n\u00fcp bakt\u0131\u011f\u0131mda 12 ya\u015f\u0131mdan itibaren belirtiler g\u00f6r\u00fcyorum. Softbol oynuyordum ve ne kadar u\u011fra\u015f\u0131rsam u\u011fra\u015fay\u0131m bacaklar\u0131m\u0131 h\u0131zl\u0131 ko\u015fturam\u0131yordum. Ayr\u0131ca her zaman anormal derecede b\u00fcy\u00fck bald\u0131rlar\u0131m vard\u0131, ancak \u015fimdi bunun d\u00f6rtl\u00fc kaslar\u0131n\u0131zdaki kas g\u00fcc\u00fc eksikli\u011finden kaynaklanabilece\u011fini biliyorum.<\/p>\n

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

Hay\u0131r, ailemde LGMD2A\/R1 hastas\u0131 olan tek ki\u015fi benim.<\/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

Merdivenler beni pek \u00e7ok \u015feyden al\u0131koyuyor. Hala merdivenleri \u00e7\u0131kabiliyorum ama \u00e7ok fazla \u00e7aba ve enerji gerektiriyor. Buna de\u011fmiyor. Ayr\u0131ca yemek pi\u015firirken oturup dinlenebilece\u011fim bir sandalyeye sahip olmak, \u00e7ocuklar\u0131 kuca\u011f\u0131ma almak yerine yere oturtmak ve bir g\u00fcnde yapt\u0131\u011f\u0131m \u015feylerin say\u0131s\u0131n\u0131 s\u0131n\u0131rlamak gibi g\u00fcnl\u00fck hayat\u0131m\u0131 ayarlamay\u0131 \u00f6\u011frenmek zorunday\u0131m. Ya\u015fad\u0131\u011f\u0131m en b\u00fcy\u00fck engel, ak\u00fcl\u00fc sandalyemle ilgili zihinsel kambur. Onu kullanmam gerekti\u011fini biliyorum ama hen\u00fcz te\u015fhisimi kabul etmeyen zihinsel bir engel var.<\/p>\n

En b\u00fcy\u00fck BA\u015eARINIZ nedir?<\/strong><\/p>\n

\u0130li\u015fkilerim ve hayata olumlu bak\u0131\u015f\u0131m devam ediyor. Liseyi bitirdim ama sonras\u0131nda te\u015fhis sorunu ya\u015fad\u0131m, bu y\u00fczden hen\u00fcz \u00fcniversiteye gidemedim ama bu benim bir hedefim.<\/p>\n

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

Bu bana daha bilin\u00e7li olma ve kendi kendimi e\u011fitme becerisi kazand\u0131rd\u0131. Art\u0131k v\u00fccudumla daha fazla temas halindeyim, rabdomiyolizde olup olmad\u0131\u011f\u0131m\u0131, \u00e7al\u0131\u015f\u0131p \u00e7al\u0131\u015fmad\u0131\u011f\u0131m\u0131 veya sadece dinlenmem gerekip gerekmedi\u011fini anlayabiliyorum. LGMD i\u00e7in ara\u015ft\u0131rma eksikli\u011fi nedeniyle, \u00e7ok fazla kendi kendine e\u011fitim ve savunuculuk var. Yar\u0131 k\u0131rsal bir toplulukta ya\u015f\u0131yorum, bu y\u00fczden hi\u00e7bir doktorun benim i\u00e7in ne yap\u0131laca\u011f\u0131 veya bende ne oldu\u011fu konusunda hi\u00e7bir fikri yoktu. Art\u0131k PCP'mi arayabilece\u011fim, neler oldu\u011funu anlatabilece\u011fim ve beni buna g\u00f6re tedavi edecekleri bir noktaya geldim.<\/p>\n

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

LGMD herkeste ayn\u0131 \u015fekilde g\u00f6r\u00fcnmez. Herkes y\u00fcr\u00fcyemeyecek ve herkes tekerlekli sandalyede olmayacakt\u0131r. T\u0131pk\u0131 herkesin erken te\u015fhis alamamas\u0131 ve baz\u0131lar\u0131n\u0131n art\u0131k daha kolay olsa da asla te\u015fhis alamamas\u0131 gibi). Herkes te\u015fhisi iyi kar\u015f\u0131lamayacak ve kendinden emin bir \u015fekilde ilerlemeyecek ve herkes te\u015fhis nedeniyle kendini kaybetmeyecektir. Birinin fiziksel ve zihinsel olarak neler ya\u015fad\u0131\u011f\u0131n\u0131 bildi\u011finizi asla varsaymay\u0131n.<\/p>\n

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

\u0130lk yapmak istedi\u011fim \u015fey macera dolu bir tatile\/yolculu\u011fa \u00e7\u0131kmak. \u015eu anda benim i\u00e7in pratik de\u011fil ama her zaman B\u00fcy\u00fck Kanyon'a, Yosemite'ye, Appalachian Da\u011flar\u0131'n\u0131n en y\u00fcksek noktas\u0131na ve Hawaii volkanlar\u0131na gitmek istiyorum.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"featured_media":5545,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,14],"tags":[12,15,82,16],"class_list":["post-5544","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2a","tag-calpainopathy","tag-lgmd2a","tag-lgmd2a-calpainopathy","tag-united-states"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Jade - 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\/2021\/10\/17\/individual-with-lgmd-jade\/\" \/>\n<meta property=\"og:locale\" content=\"tr_TR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Jade - 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