\u0130zmir B\u00fcy\u00fck\u015fehir Belediyesi \u0130tfaiye Dairesi Ba\u015fkanl\u0131\u011f\u0131\u2019nda paramedik olarak g\u00f6rev yapan G\u00fclden Demir, acil vakalarda ya\u015fam i\u00e7in m\u00fccadele ederken, evinde de nadir g\u00f6r\u00fclen genetik hastal\u0131kla ya\u015fayan o\u011flu Bulut\u2019un geli\u015fimi i\u00e7in y\u0131llard\u0131r umutla sava\u015f\u0131yor. D\u00fcnyada yaln\u0131zca 21 vakada g\u00f6r\u00fclen AKT3 gen bozuklu\u011funa sahip Bulut\u2019un, hastal\u0131\u011f\u0131n en iyi seyir g\u00f6sterdi\u011fi ikinci vaka olmas\u0131 ise aileye umut veriyor.<\/p>\n
\u0130zmir B\u00fcy\u00fck\u015fehir Belediyesi \u0130tfaiye Dairesi Ba\u015fkanl\u0131\u011f\u0131\u2019nda 2010 y\u0131l\u0131ndan bu yana paramedik olarak g\u00f6rev yapan G\u00fclden Demir\u2019in ya\u015fam\u0131, o\u011flu Bulut\u2019un do\u011fumuyla birlikte farkl\u0131 bir m\u00fccadeleye d\u00f6n\u00fc\u015ft\u00fc. Acil vakalarda insanlar\u0131n hayat\u0131na dokunan Demir, y\u0131llard\u0131r evinde de o\u011flunun geli\u015fimi i\u00e7in b\u00fcy\u00fck bir m\u00fccadele veriyor. 9 ya\u015f\u0131ndaki Bulut Demir, d\u00fcnyada yaln\u0131zca 21 ki\u015fide g\u00f6r\u00fclen AKT3 gen bozuklu\u011funa ba\u011fl\u0131 makrosefali ve yayg\u0131n geli\u015fim gerili\u011fiyle ya\u015fam\u0131n\u0131 s\u00fcrd\u00fcr\u00fcyor. Literat\u00fcrdeki en nadir vakalardan biri olarak g\u00f6sterilen Bulut\u2019un durumu, ayn\u0131 zamanda umut verici bir tablo ortaya koyuyor. Bulut, hastal\u0131\u011f\u0131n en iyi seyir g\u00f6sterdi\u011fi ikinci vaka olarak \u00f6ne \u00e7\u0131k\u0131yor. Anne karn\u0131ndan itibaren zorlu bir s\u00fcre\u00e7 ya\u015fayan Bulut; n\u00f6roloji, genetik ve farkl\u0131 bran\u015flarda yak\u0131ndan takip edildi. Hen\u00fcz 1 ya\u015f\u0131na gelmeden fizik tedavi ve \u00f6zel e\u011fitime ba\u015flayan Bulut, bug\u00fcn de e\u011fitim ve hareket terapilerine devam ediyor. Uzun s\u00fcren genetik ve n\u00f6rolojik testlerin ard\u0131ndan kesin tan\u0131 ise 5 ya\u015f\u0131nda konulabildi.<\/p>\n
\u201c4 y\u0131ld\u0131r o ad\u0131m\u0131 bekliyorduk\u201d<\/strong><\/p>\n 2014 y\u0131l\u0131nda k\u0131z\u0131 Defne\u2019yi, 2017\u2019de ise o\u011flu Bulut\u2019u d\u00fcnyaya getiren G\u00fclden Demir, o\u011flunun do\u011fumundan k\u0131sa s\u00fcre sonra geli\u015fim farkl\u0131l\u0131klar\u0131 fark ettiklerini s\u00f6yledi. Uzun s\u00fcre tan\u0131 konulamad\u0131\u011f\u0131n\u0131 belirten Demir, \u201c3 ayl\u0131k oldu\u011funda hala ba\u015f\u0131n\u0131 tutam\u0131yordu. Genetik testler yap\u0131l\u0131yordu ama sonu\u00e7 alam\u0131yorduk\u201d dedi. Bulut\u2019un ilk ad\u0131mlar\u0131n\u0131 4 ya\u015f\u0131nda att\u0131\u011f\u0131n\u0131 anlatan Demir, \u0130zmir depremindeki 72 saatlik g\u00f6revin ard\u0131ndan eve d\u00f6nd\u00fc\u011f\u00fcnde o\u011flunun ilk kez y\u00fcr\u00fcd\u00fc\u011f\u00fcn\u00fc g\u00f6rd\u00fc\u011f\u00fcn\u00fc belirterek, \u201cBulut ilk kez ad\u0131m at\u0131yordu. Bir\u00e7ok insana g\u00f6re ge\u00e7 olabilir ama bizim i\u00e7in \u00e7ok b\u00fcy\u00fck bir ad\u0131md\u0131. \u00c7\u00fcnk\u00fc 4 y\u0131ld\u0131r onun y\u00fcr\u00fcmesini bekliyorduk\u201d diye konu\u015ftu. Y\u0131llar s\u00fcren testlerin ard\u0131ndan Bulut\u2019a, \u201cakt3 gen bozuklu\u011funa ba\u011fl\u0131 makrosefali\u201d tan\u0131s\u0131 konuldu\u011funu aktaran Demir, o\u011flunun d\u00fcnya literat\u00fcr\u00fcne ge\u00e7en 21\u2019inci vaka oldu\u011funu s\u00f6yledi.<\/p>\n \u201cBulut bize her \u015feyin zaman\u0131 gelince oldu\u011funu \u00f6\u011fretti\u201d<\/strong><\/p>\n Doktorlar\u0131n Bulut\u2019un geli\u015fimini yak\u0131ndan takip etti\u011fini belirten G\u00fclden Demir, o\u011flunun d\u00fcnya literat\u00fcr\u00fcndeki 21\u2019inci vaka oldu\u011funu ve hastal\u0131\u011f\u0131n en iyi seyir g\u00f6sterdi\u011fi ikinci \u00e7ocuk olarak de\u011ferlendirildi\u011fini s\u00f6yledi. Tedavi s\u00fcrecinde ila\u00e7 yerine e\u011fitim ve destek \u00e7al\u0131\u015fmalar\u0131na a\u011f\u0131rl\u0131k verdiklerini ifade eden Demir, \u201cBulut bize her \u015feyin zaman\u0131 gelince oldu\u011funu \u00f6\u011fretti\u201d dedi. 24 saatlik n\u00f6bet sistemiyle \u00e7al\u0131\u015ft\u0131\u011f\u0131n\u0131 anlatan Demir, g\u00f6rev s\u0131ras\u0131nda t\u00fcm dikkatini vakalara vermek zorunda oldu\u011funu belirterek, \u201c\u0130nsanlar\u0131n en zor anlar\u0131nda yanlar\u0131nda oluyoruz. O anda kendi ac\u0131m\u0131z\u0131 bir kenara b\u0131rak\u0131p tamamen vakaya odaklan\u0131yoruz\u201d diye konu\u015ftu.<\/p>\n \u201cM\u00fccadeleci y\u00f6n\u00fcm\u00fc ortaya \u00e7\u0131kt\u0131\u201d<\/strong><\/p>\n S\u00fcre\u00e7 boyunca i\u00e7ine kapanmak yerine sosyal ya\u015famdan kopmamaya \u00e7al\u0131\u015ft\u0131klar\u0131n\u0131 s\u00f6yleyen G\u00fclden Demir, \u201cG\u00f6rev ba\u015f\u0131nda oldu\u011fum gibi o\u011flumun ya\u015fam m\u00fccadelesinde de pes etmedim.Ben d\u00fc\u015fersem Bulut\u2019un da d\u00fc\u015fece\u011finin fark\u0131nday\u0131m. Bulut daha y\u00fcr\u00fcyemezken t\u0131rmanma duvar\u0131na \u00e7\u0131kmak i\u00e7in m\u00fccadele ediyordu. O sava\u015f\u0131yorsa ben asla b\u0131rakamam. Bulut benim m\u00fccadeleci y\u00f6n\u00fcm\u00fc ortaya \u00e7\u0131kard\u0131.\u00a0 Bir de k\u0131z\u0131m var. Ailem i\u00e7in ayakta duraca\u011f\u0131m. Biz birbirimize g\u00fc\u00e7 veriyoruz\u201d ifadelerini kulland\u0131.<\/p>\n \u00a0<\/p>\n \u00a0<\/p>\n Kaynak: (BYZHA) Beyaz Haber Ajans\u0131<\/p>\n","protected":false},"excerpt":{"rendered":" \u0130zmir B\u00fcy\u00fck\u015fehir Belediyesi \u0130tfaiye Dairesi Ba\u015fkanl\u0131\u011f\u0131\u2019nda paramedik olarak g\u00f6rev yapan G\u00fclden Demir, acil vakalarda ya\u015fam i\u00e7in m\u00fccadele ederken, evinde de nadir g\u00f6r\u00fclen genetik hastal\u0131kla ya\u015fayan o\u011flu Bulut\u2019un geli\u015fimi i\u00e7in y\u0131llard\u0131r umutla sava\u015f\u0131yor.<\/p>\n","protected":false},"author":1,"featured_media":19101,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[20],"tags":[],"class_list":["post-19100","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-gundem"],"_links":{"self":[{"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/posts\/19100","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/comments?post=19100"}],"version-history":[{"count":1,"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/posts\/19100\/revisions"}],"predecessor-version":[{"id":19102,"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/posts\/19100\/revisions\/19102"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/media\/19101"}],"wp:attachment":[{"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/media?parent=19100"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/categories?post=19100"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/akdenizolay.com.tr\/index.php\/wp-json\/wp\/v2\/tags?post=19100"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}