{"id":1384,"date":"2024-09-26T10:35:31","date_gmt":"2024-09-26T10:35:31","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=1384"},"modified":"2025-11-03T20:28:18","modified_gmt":"2025-11-03T17:28:18","slug":"the-story-of-aziz-dmd-warrior-from-turkey","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/tr\/the-story-of-aziz-dmd-warrior-from-turkey\/","title":{"rendered":"T\u00fcrkiye'den DMD Sava\u015f\u00e7\u0131s\u0131 Aziz'in Hikayesi"},"content":{"rendered":"

O\u011flum Aziz 2024 y\u0131l\u0131n\u0131n Ocak ay\u0131nda do\u011fdu.<\/p>\n\n\n\n

Do\u011fum \u00f6ncesi \u00e7ok heyecanl\u0131yd\u0131k, ilk \u00e7ocu\u011fumuz olacakt\u0131. O\u011flumuz i\u00e7in evdeki her \u015feyi ald\u0131k, hi\u00e7bir \u015feyi eksik etmedik.<\/p>\n\n\n\n

Do\u011fumdan bir g\u00fcn \u00f6nce hastaneye gittik. O kadar heyecanl\u0131yd\u0131m ki a\u011fr\u0131lar\u0131m ak\u015fam ba\u015flad\u0131 ve sabaha kadar s\u00fcrd\u00fc. Doktorumuz zaman\u0131n geldi\u011fini s\u00f6yledi ve bizi do\u011fumhaneye ald\u0131.<\/p>\n\n\n\n

O\u011flum sabah do\u011fdu. Topuk kan\u0131 hemen al\u0131nd\u0131 ve inceleme i\u00e7in laboratuvara g\u00f6nderildi. Bir g\u00fcn hastanede kald\u0131ktan sonra eve g\u00f6nderildik.<\/p>\n\n\n\n

Bir hafta sonra \u00e7ocuk doktoruna kontrole gittik. Sar\u0131l\u0131k tespit edildi ve ne yapmam\u0131z gerekti\u011fi anlat\u0131ld\u0131.<\/p>\n\n\n\n

\u0130ki ayl\u0131k s\u00fcre\u00e7te sar\u0131l\u0131k de\u011ferlerinde azalma olmay\u0131nca doktorumuz bize uzun s\u00fcreli sar\u0131l\u0131k te\u015fhisi koydu ve CK (Kreatin Kinaz) testi yapt\u0131rmam\u0131z\u0131 istedi.<\/p>\n\n\n\n

Genetik Test ile Kontrol Edildi<\/h2>\n\n\n\n

CK testinde AST, ALT ve Kreatin Kinaz de\u011ferleri normalin olduk\u00e7a \u00fczerindeydi. Doktorumuz bizi ba\u015fka bir hastaneye y\u00f6nlendirdi. Burada yap\u0131lan tetkiklerde CK seviyesi d\u00fc\u015fmedi\u011fi i\u00e7in Duchenne kas distrofisi (DMD) olabilece\u011fi i\u00e7in genetik test yap\u0131lmas\u0131na karar verdiler.<\/p>\n\n\n\n

E\u015fim ve ben daha \u00f6nce hi\u00e7 duymad\u0131\u011f\u0131m\u0131z bir hastal\u0131\u011f\u0131n varl\u0131\u011f\u0131ndan dolay\u0131 \u015fok olduk.<\/p>\n\n\n\n

Her ailenin yapt\u0131\u011f\u0131 gibi biz de genetik test sonu\u00e7lar\u0131n\u0131 beklerken bu hastal\u0131\u011f\u0131n ne oldu\u011funu ara\u015ft\u0131rmaya ba\u015flad\u0131k.<\/p>\n\n\n\n

Bu arada bizimle ilgilenen n\u00f6rolo\u011fumuz bizi metabolizma, kardiyoloji, gastroenteroloji gibi farkl\u0131 bran\u015flardaki doktorlara y\u00f6nlendirdi. Di\u011fer t\u00fcm testler normaldi, bir \u015fey hari\u00e7: CK<\/p>\n\n\n\n

3-4 ayl\u0131k bir bekleyi\u015fin ard\u0131ndan genetik test sonu\u00e7lar\u0131m\u0131z geldi. K\u00fc\u00e7\u00fck o\u011flumuzda Duchenne (DMD) hastal\u0131\u011f\u0131 vard\u0131. >>> Duchenne Nedir?<\/a><\/p>\n\n\n\n

Genetik test sonucumuzla ayn\u0131 g\u00fcn n\u00f6rolo\u011fumuza gittik. Bizi daha uzmanla\u015fm\u0131\u015f bir n\u00f6roloji profes\u00f6r\u00fcne y\u00f6nlendirdi.<\/p>\n\n\n\n

Bu doktor bize hastal\u0131k hakk\u0131nda bilgi verdi, kesin bir tedavisinin olmad\u0131\u011f\u0131n\u0131, \u00e7ocu\u011fumuzun ileriki y\u0131llarda hangi evrelerden ge\u00e7ece\u011fini, en k\u00f6t\u00fcs\u00fc de bir g\u00fcn \u00f6lece\u011fini s\u00f6yledi.<\/p>\n\n\n\n

Kocam ve ben genetik testin ilk g\u00fcn\u00fcnden test sonu\u00e7lar\u0131n\u0131 alana kadar bir\u00e7ok \u015feyi ara\u015ft\u0131rd\u0131k. Ancak, DMD tedavilerine ve t\u0131bbi ara\u015ft\u0131rmalara bakmad\u0131k \u00e7\u00fcnk\u00fc her zaman Duchenne olmayaca\u011f\u0131 umudunu ta\u015f\u0131d\u0131k.<\/p>\n\n\n\n

DMD Tedavilerini Ara\u015ft\u0131rd\u0131k<\/h2>\n\n\n\n

Genetik test sonu\u00e7lar\u0131 ve g\u00f6r\u00fc\u015ft\u00fc\u011f\u00fcm\u00fcz profes\u00f6r\u00fcn s\u00f6yledikleri kar\u015f\u0131s\u0131nda \u015fok olduk. Kocam 3 g\u00fcn boyunca uyumadan, yabanc\u0131 kaynaklardan Duchenne i\u00e7in yap\u0131lan t\u00fcm ara\u015ft\u0131rmalar\u0131 ve tedavileri inceledi ve hala umut edebilece\u011fimiz \u015feyler oldu\u011funu \u00f6\u011frendik. Devam\u0131n\u0131 oku<\/strong>:\u00a0Duchenne \u0130\u00e7in Klinik Ara\u015ft\u0131rmalar (T\u00fcm Ara\u015ft\u0131rmalar\u0131n Listesi)<\/a><\/p>\n\n\n\n

Duchenne hastal\u0131\u011f\u0131nda FDA'n\u0131n onaylad\u0131\u011f\u0131 ekzon atlama ve gen tedavileri bize daha fazla umut verdi.<\/p>\n\n\n\n

2023 y\u0131l\u0131nda FDA onay\u0131 alan ve 2024 y\u0131l\u0131nda her ya\u015fta kullan\u0131m\u0131na izin verilen gen terapisini \u00f6\u011frendi\u011fimizde mutlulu\u011fumuz daha da artt\u0131.<\/p>\n\n\n\n

T\u00fcrkiye'de ve di\u011fer \u00fclkelerde bu gen terapisini alm\u0131\u015f \u00e7ocuklar bulduk. \u0130la\u00e7 uygulanmadan \u00f6nce ve uyguland\u0131ktan sonra muazzam bir fark vard\u0131. Tedavi i\u015fe yar\u0131yordu.<\/p>\n\n\n\n

T\u00fcrkiye'de bu gen terapisini uygulayan bir sa\u011fl\u0131k kurulu\u015fu yoktu. Tedavi tek dozdu ve maliyeti yakla\u015f\u0131k 3 milyon 200 bin ABD dolar\u0131yd\u0131. Ayr\u0131ca, T\u00fcrkiye Sa\u011fl\u0131k Bakanl\u0131\u011f\u0131'n\u0131n bu tedavinin maliyetini kar\u015f\u0131lamad\u0131\u011f\u0131n\u0131 \u00f6\u011frendik.<\/p>\n\n\n\n

Milyoner de\u011filseniz, ba\u011f\u0131\u015f toplamadan bu tedavinin maliyetini kar\u015f\u0131lamam\u0131z m\u00fcmk\u00fcn olmazd\u0131.<\/p>\n\n\n\n

T\u00fcrkiye'de h\u00fck\u00fcmetin ba\u011f\u0131\u015f toplamak i\u00e7in verdi\u011fi toplam s\u00fcrenin 2 y\u0131l olmas\u0131 da bizi strese soktu. Bunun neden toplam 2 y\u0131l oldu\u011funu anlayamad\u0131k. \u00c7\u00fcnk\u00fc DMD'li \u00e7ocuklar ortalama 20 y\u0131l veya daha fazla ya\u015fayabiliyor.<\/p>\n\n\n\n

Bu tedavinin maliyetini iki y\u0131l i\u00e7inde ba\u011f\u0131\u015flarla bulamazsak, \u00e7ocu\u011fumuzu \u00f6l\u00fcme terk etmemiz mi isteniyor? Bu anlams\u0131z s\u00fcrenin a\u00e7\u0131kl\u0131\u011fa kavu\u015fturulmas\u0131 i\u00e7in bakanl\u0131\u011fa bir mektup g\u00f6nderdik, en k\u0131sa s\u00fcrede a\u00e7\u0131kl\u0131\u011fa kavu\u015fturulmas\u0131n\u0131 ve b\u00f6yle bir s\u00fcre varsa yasa maddesinin de\u011fi\u015ftirilmesini talep ettik.<\/p>\n\n\n\n

T\u00fcm bu belirsizlikler i\u00e7inde, ebeveynler olarak \u00e7ocu\u011fumuzun sa\u011fl\u0131\u011f\u0131 i\u00e7in elimizden geleni yapaca\u011f\u0131z.<\/p>\n\n\n\n

Ailelerin bu tedavilerin masraflar\u0131n\u0131 kendi ba\u015flar\u0131na kar\u015f\u0131lamalar\u0131 m\u00fcmk\u00fcn de\u011fildir. \u00dclkelerin harekete ge\u00e7mesi ve nadir hastal\u0131klar\u0131 olan \u00e7ocuklar i\u00e7in umut sa\u011flamas\u0131 gerekir.<\/p>\n\n\n\n

DMD Tedavileri Neden Bu Kadar Pahal\u0131d\u0131r?<\/h2>\n\n\n\n

Evet, biz de bu tip genetik tedavilerin ara\u015ft\u0131rma s\u00fcre\u00e7lerinin \u00e7ok uzun oldu\u011funu ve bu \u00e7al\u0131\u015fmalara ciddi fonlar\u0131n ayr\u0131lmas\u0131 gerekti\u011fini tahmin ediyoruz.<\/p>\n\n\n\n

Ama aileler bu tedavileri kar\u015f\u0131layam\u0131yor. Burada bir sorun var!<\/p>\n\n\n\n

Her ay veya her y\u0131l kullan\u0131lmas\u0131 gereken ila\u00e7lar daha ucuzken, tek dozluk tedaviler astronomik fiyatlara sat\u0131l\u0131yor.<\/p>\n\n\n\n

\u00dcstelik bu tedavilerin hi\u00e7biri kesin sonu\u00e7lar sa\u011flamaz veya sa\u011flayaca\u011f\u0131na dair bir vaatte bulunmaz. Ailelerin bu kadar y\u00fcksek maliyetleri kar\u015f\u0131lamaya \u00e7al\u0131\u015fmas\u0131n\u0131n tek nedeni \u00e7ocuklar\u0131na biraz daha uzun ya\u015fama ve gelecekte yeni tedavi se\u00e7eneklerine sahip olma \u015fans\u0131 vermektir.<\/p>\n\n\n\n

\u0130la\u00e7 \u00fcreticileri bu nadir hastal\u0131klar hakk\u0131nda muazzam ara\u015ft\u0131rmalar yap\u0131yor, evet. Dahi olarak adland\u0131r\u0131labilecek kadar yetenekli doktorlara her zaman hayranl\u0131k duyar\u0131z. Ama bu y\u00fcksek maliyetler \u00e7ok ac\u0131mas\u0131z de\u011fil mi?<\/p>\n\n\n\n

Baz\u0131 \u00fclkelerin sa\u011fl\u0131k sigorta \u015firketleri bu tedavileri hemen kar\u015f\u0131larken, baz\u0131lar\u0131 ise \u00e7ocuklar \u00f6lene kadar bekleme stratejisi uyguluyor.<\/p>\n\n\n\n

L\u00fctfen bir saniye d\u00fc\u015f\u00fcn\u00fcn! \u00c7ocu\u011funuz bu hastal\u0131\u011fa sahip olsayd\u0131 nas\u0131l hissederdiniz?<\/p>","protected":false},"excerpt":{"rendered":"

My son Aziz was born in January 2024. We were very excited before the birth, it was going to be our first child. We bought everything for our son in our house, we did not miss anything. We went to the hospital one day before the birth. I was so excited that my pain started […]<\/p>\n","protected":false},"author":1,"featured_media":1385,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[32],"tags":[],"class_list":["post-1384","post","type-post","status-publish","format-standard","has-post-thumbnail","category-family-stories"],"_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/1384","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/comments?post=1384"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/1384\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media\/1385"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media?parent=1384"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/categories?post=1384"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/tags?post=1384"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}