{"id":1026,"date":"2015-09-30T07:31:34","date_gmt":"2015-09-30T12:31:34","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1026"},"modified":"2015-09-30T07:31:34","modified_gmt":"2015-09-30T12:31:34","slug":"brad","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/tr\/individuals-with-lgmd-interviews\/2015\/09\/30\/brad\/","title":{"rendered":"LGMD'L\u0130 B\u0130REY: Brad"},"content":{"rendered":"<p>09\/30\/2015:<\/p>\n<p><strong>\u0130sim<\/strong>:  Brad\u00a0 <strong>Ya\u015f<\/strong>: 51 ya\u015f\u0131nda<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2015\/09\/LGMD2B-Brad.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1027 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\/2015\/09\/LGMD2B-Brad-300x169.png\" alt=\"LGMD2B - Brad\" width=\"300\" height=\"169\" \/><\/a><\/p>\n<p><strong>\u00dclke<\/strong>: Birle\u015fik Devletler<\/p>\n<p><strong>LGMD Alt Tipi<\/strong>: LGMD2B\/Miyoshi Miyopatisi<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Ka\u00e7 ya\u015f\u0131nda te\u015fhis konuldu?<\/strong>:<\/p>\n<p>\u0130lk olarak 18 ya\u015f\u0131mda semptomlar ya\u015famaya ba\u015flad\u0131m. Ancak yakla\u015f\u0131k 10 y\u0131l sonra bir n\u00f6rolog bana Miyoshi hastas\u0131 oldu\u011fumu s\u00f6yledi.  Bende bu hastal\u0131\u011f\u0131n oldu\u011funu do\u011frulaman\u0131n bir yolu bulunmadan \u00f6nce genin ke\u015ffedilmesi i\u00e7in bir 10 y\u0131l daha beklemek zorunda kald\u0131m.<\/p>\n<p><strong>\u0130lk belirtileriniz neydi?<\/strong>:<\/p>\n<p>Ayak parmaklar\u0131m\u0131n \u00fczerinde duram\u0131yordum, ba\u015flang\u0131\u00e7ta sadece bir taraf\u0131m\u0131n \u00fczerinde durabiliyordum.<\/p>\n<p><strong>LGMD hastas\u0131 olan ba\u015fka aile \u00fcyeleriniz var m\u0131?<\/strong><\/p>\n<p>Hay\u0131r<\/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>Herhangi bir faaliyetin planlanmas\u0131nda \u00e7ok daha fazla planlama s\u00f6z konusudur.  Bir\u00e7ok g\u00fcnl\u00fck faaliyet (seyahat etmek, al\u0131\u015fveri\u015f yapmak, restorana gitmek) dikkat edilmesi gereken \u00e7ok daha fazla \u015fey i\u00e7erir.<\/p>\n<p><strong>En b\u00fcy\u00fck ba\u015far\u0131n\u0131z nedir?<\/strong>:<\/p>\n<p>2000 y\u0131l\u0131nda disferlin (benim LGMD alt tipimin geni) hakk\u0131nda bir web sitesi haz\u0131rlad\u0131m.  Web tasar\u0131m\u0131 hakk\u0131nda hi\u00e7bir \u015fey bilmiyordum ama di\u011fer hastalar\u0131n hastal\u0131k ve yap\u0131lan ara\u015ft\u0131rmalar hakk\u0131nda bir bilgi kayna\u011f\u0131na sahip olmas\u0131n\u0131 istiyordum.  Bu sayede, \u00e7ocuklar\u0131ndan birine te\u015fhis konulduktan sonra Jain ailesi benimle temasa ge\u00e7ti - daha sonra benim alt tipimle ilgili ara\u015ft\u0131rmalar\u0131 destekleyen Jain Vakf\u0131'n\u0131 kurdular.  Jain Vakf\u0131 2007 y\u0131l\u0131nda disferlin \u00fczerine ilk ara\u015ft\u0131rma konferans\u0131n\u0131 d\u00fczenledi.  T\u00fcm bu s\u00fcre boyunca bunun ger\u00e7ek olamayaca\u011f\u0131n\u0131 d\u00fc\u015f\u00fcnerek kendimi \u00e7imdikleyip durdum - ger\u00e7ekten de bu hastal\u0131\u011fa adanm\u0131\u015f bir konferans vard\u0131!<\/p>\n<p><strong>LGMD bug\u00fcn oldu\u011funuz ki\u015fi olman\u0131zda sizi nas\u0131l etkiledi?<\/strong><\/p>\n<p>San\u0131r\u0131m bu beni daha d\u00fc\u015f\u00fcnceli ve ba\u015fkalar\u0131n\u0131n fark\u0131nda biri haline getirdi.  Gen\u00e7ken her zaman \u00e7ok ba\u011f\u0131ms\u0131zd\u0131m, ancak baz\u0131 konularda yard\u0131ma ihtiya\u00e7 duymak ve ayr\u0131ca LGMD'lere \u00e7are bulmak i\u00e7in ba\u015fkalar\u0131yla birlikte \u00e7al\u0131\u015fmak istemek, bana ihtiya\u00e7 duydu\u011funuzda yard\u0131m istemenin, yapabildi\u011finizde yard\u0131m teklif etmenin ve birlikte \u00e7al\u0131\u015fman\u0131n \u00f6nemini \u00f6\u011fretti.<\/p>\n<p><strong>D\u00fcnyan\u0131n LGMD hakk\u0131nda ne bilmesini istersiniz?<\/strong>:<\/p>\n<p>Birincisi, b\u00f6yle bir hastal\u0131\u011f\u0131n var olmas\u0131.  Bence pek \u00e7ok insan MD'nin sadece gen\u00e7 erkekleri ya da en az\u0131ndan \u00e7ocuklar\u0131 etkiledi\u011fi fikrine sahip.  Semptomlar\u0131 ya\u015famaya ba\u015flamadan \u00f6nce ben de \u00f6yleydim.  MD'nin bir\u00e7ok farkl\u0131 t\u00fcr\u00fc oldu\u011funu ve semptomlar\u0131n her ya\u015fta ba\u015flayabilece\u011fini bilmelerini istiyorum.<\/p>\n<p>\u0130kinci olarak, bence toplum engellili\u011fi siyah-beyaz bir \u015fey olarak g\u00f6rme e\u011filiminde.  Yani, ki\u015fi ya engellidir ve yard\u0131ma ihtiyac\u0131 olabilir ya da tamamen iyidir ve yard\u0131ma ihtiyac\u0131 yoktur.   Ancak LGMD gibi semptomlar\u0131n genellikle yava\u015f ilerledi\u011fi bir durum i\u00e7in, ki\u015fi tam olarak ne zaman engelli hale gelir?  Bence i\u015flerin bu \u015fekilde d\u00fczenlenmesi, \u00e7al\u0131\u015fabilecek durumda olan ve \u00e7al\u0131\u015fmak isteyen insanlar\u0131n cesaretini k\u0131r\u0131yor ve hayatlar\u0131 boyunca yapabilecekleri her \u015feyi yapmalar\u0131na engel oluyor<\/p>\n<p>Di\u011fer hastalar\u0131n yaln\u0131z olmad\u0131klar\u0131n\u0131 bilmelerini istiyorum.  Y\u00fcksek lisans yaparken, MD'm hakk\u0131nda son derece endi\u015feliydim (ger\u00e7ekte te\u015fhis edilmemi\u015fti), ancak bunu kimseyle payla\u015fabilece\u011fimi hissetmiyordum.  Y\u0131llar sonra, LGMD hastas\u0131 olan ve benimle ayn\u0131 zamanda ayn\u0131 \u00fcniversitede y\u00fcksek lisans yapan ba\u015fka bir hastayla tan\u0131\u015ft\u0131m!  LGMD nadir g\u00f6r\u00fclen bir hastal\u0131k olsa da, d\u0131\u015far\u0131da ba\u015fka insanlar da var ve onlarla ba\u011flant\u0131 kurmak iyi bir \u015fey.<\/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>Ya buz patenine ya da kaya\u011fa gitmek.  Semptomlar\u0131m ba\u015flamadan \u00f6nce rekabet\u00e7i bir artistik patinajc\u0131yd\u0131m ve bunu tekrar yapabilmek ger\u00e7ekten g\u00fczel olurdu.  Ayr\u0131ca gen\u00e7ken \u00e7ok kayak yapt\u0131m ve \u00e7ok sevdim.<\/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>09\/30\/2015: Name:\u00a0 Brad\u00a0 Age: 51 yrs. old Country: United States [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1027,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,22],"tags":[23,55,16],"class_list":["post-1026","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2b","tag-lgmd2b","tag-miyoshi-myopathy","tag-united-states"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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