\u00c7o\u011funlukla genetik k\u00f6kenli, kronik ve a\u011f\u0131r seyreden hastal\u0131klar olarak tan\u0131mlanan “nadir hastal\u0131klar”, d\u00fcnya genelinde 300 milyondan fazla insan\u0131 etkiliyor. Bu kapsamda Avrupa Birli\u011fi kriterlerine g\u00f6re, \u00fclkede 5 milyondan fazla ki\u015finin nadir hastal\u0131klardan etkilendi\u011fi \u00f6ng\u00f6r\u00fcl\u00fcyor.<\/p>\n\n\n\n
T\u00fcrk N\u00f6roloji Derne\u011fi Y\u00f6netim Kurulu \u00dcyesi Prof. Dr. Hacer Durmu\u015f Tek\u00e7e, “Nadir Hastal\u0131klar G\u00fcn\u00fc” kapsam\u0131nda yapt\u0131\u011f\u0131 de\u011ferlendirmede, bunlar\u0131n \u00e7o\u011funlu\u011funun kronik, ilerleyici ve a\u011f\u0131r seyreden hastal\u0131klar oldu\u011funu ve \u00e7ocukluk \u00e7a\u011f\u0131nda ba\u015flad\u0131\u011f\u0131n\u0131 s\u00f6yledi.<\/p>\n\n\n\n
Bu hastal\u0131klar\u0131n y\u00fczde 80’inin genetik k\u00f6kenli oldu\u011funu aktaran Tek\u00e7e, d\u00fcnyada 8 binden fazla nadir hastal\u0131k tan\u0131mland\u0131\u011f\u0131n\u0131 anlatt\u0131.<\/p>\n\n\n\n
Tek\u00e7e, “T\u00fcrkiye’de net rakamlar yok ama biz de Avrupa Birli\u011fi tan\u0131m\u0131n\u0131 kullan\u0131yoruz. 2 bin ki\u015fiden birini etkileyen hastal\u0131klar\u0131 ‘nadir hastal\u0131klar’ olarak tan\u0131ml\u0131yoruz. B\u00f6yle bak\u0131ld\u0131\u011f\u0131nda T\u00fcrkiye’de de 5 milyondan fazla nadir hastal\u0131ktan etkilenmi\u015f birey oldu\u011funu d\u00fc\u015f\u00fcn\u00fcyoruz. O y\u00fczden nadir hastal\u0131klar, tek tek bak\u0131ld\u0131\u011f\u0131nda nadir ama toplu olarak bak\u0131ld\u0131\u011f\u0131nda ciddi bir halk sa\u011fl\u0131\u011f\u0131 sorunu olarak kar\u015f\u0131m\u0131za \u00e7\u0131k\u0131yor” diye konu\u015ftu.<\/p>\n\n\n\n
Nadir hastal\u0131klar az g\u00f6r\u00fcld\u00fc\u011f\u00fc i\u00e7in hem doktorlarca hem de toplumda fark\u0131ndal\u0131\u011f\u0131n\u0131n az oldu\u011funa dikkati \u00e7eken Tek\u00e7e, bunlar\u0131n zor tan\u0131 konulan hastal\u0131klar oldu\u011funu vurgulad\u0131.<\/p>\n\n\n\n
Tan\u0131 yolculu\u011funun hastalar i\u00e7in olduk\u00e7a zorlay\u0131c\u0131 ve uzun s\u00fcrd\u00fc\u011f\u00fcne de\u011finen Tek\u00e7e, hastalar\u0131n semptomdan tan\u0131 almas\u0131n\u0131n 5-8 y\u0131l s\u00fcrebildi\u011fini anlatt\u0131.<\/p>\n\n\n\n
Prof. Dr. Tek\u00e7e, T\u00fcrkiye’de akraba evlili\u011fi oranlar\u0131n\u0131n y\u00fcksek oldu\u011funun alt\u0131n\u0131 \u00e7izerek, \u015f\u00f6yle devam etti: “Akraba evlili\u011fi g\u00f6r\u00fcld\u00fc\u011f\u00fcnde bu nadir hastal\u0131klarda 3-5 kat, \u00f6zellikle \u00e7ekinik kal\u0131t\u0131m g\u00f6r\u00fclenlerde art\u0131\u015f var. Mesela \u00e7ocukluk \u00e7a\u011f\u0131 metabolik hastal\u0131klar\u0131 T\u00fcrkiye’de Avrupa’dan 3 ila 5 kat daha fazla g\u00f6r\u00fcl\u00fcyor. T\u00fcrkiye bu a\u00e7\u0131dan \u00e7ok yol katetti asl\u0131nda. Yak\u0131n zamanda ba\u015flayan SMA ve evlilik \u00f6ncesi tarama programlar\u0131yla o grup hastada \u00f6nemli yol katettik. \u00c7al\u0131\u015fma-tarama programlar\u0131 da geni\u015fletiliyor. Sa\u011fl\u0131k Bakanl\u0131\u011f\u0131n\u0131n geni\u015fletilmi\u015f taramalar konusunda \u00e7al\u0131\u015fmalar\u0131 var. D\u00fcnya \u00fclkelerini yakalama konusunda h\u0131zla hareket ediyoruz. Bu nadir hastal\u0131klarda ba\u015far\u0131l\u0131 sonu\u00e7lar\u0131m\u0131z var ama daha iyisini yapabiliriz.”<\/p>\n\n\n\n
Prof. Dr. Tek\u00e7e, bunlar\u0131n sa\u011fl\u0131k sisteminin de “\u00f6ks\u00fcz hastal\u0131klar\u0131” oldu\u011funa i\u015faret ederek, “Pek \u00e7o\u011funun genetik k\u00f6kenli olduklar\u0131 i\u00e7in tedavisi de yok maalesef. Tedaviye ula\u015f\u0131m\u0131 da s\u0131k\u0131nt\u0131l\u0131. Yurt d\u0131\u015f\u0131nda yap\u0131lan \u00e7al\u0131\u015fmalar var. Her 10 hastadan 7’sinde hem kendisinin hem bak\u0131m verenlerin i\u015f hayat\u0131ndan koptu\u011funun, tamamen \u00e7al\u0131\u015famaz hale geldi\u011finin verileri var. Bu toplum i\u00e7in ciddi bir y\u00fck. T\u00fcrkiye’de nadir hastal\u0131klarla ya\u015fayan en az 5 milyon hasta var. O y\u00fczden bu ciddi bir halk sa\u011fl\u0131\u011f\u0131 sorunu” de\u011ferlendirmesini yapt\u0131.<\/p>\n\n\n\n
Tek\u00e7e, pek \u00e7ok nadir hastal\u0131k i\u00e7in art\u0131k yava\u015f yava\u015f tedavilerin \u00e7\u0131kmaya ba\u015flad\u0131\u011f\u0131n\u0131, hekim olarak \u00f6nceliklerinin hastalara zarar vermemek oldu\u011funu bildirdi.<\/p>\n\n\n\n
Gen tedavisinin hassas bir konu oldu\u011funu ifade eden Tek\u00e7e, bunda ba\u015far\u0131l\u0131 sonu\u00e7lar elde edildi\u011fini s\u00f6yledi.<\/p>\n\n\n\n
Nadir hastalar\u0131n yaln\u0131z olmad\u0131klar\u0131n\u0131 belirten Tek\u00e7e, \u015funlar\u0131 kaydetti: “Nadir hastal\u0131klarda kendi genetik \u00f6zelliklerimizi, kendi toplumumuzdaki s\u0131k g\u00f6r\u00fclen hastal\u0131klar\u0131 bilmek \u00e7ok \u00f6nemli ama global olarak d\u00fcnyayla birlikte hareket etmemiz gerekiyor. Bu nedenle ba\u015fka fark\u0131ndal\u0131k \u00e7al\u0131\u015fmalar\u0131 da yap\u0131yoruz. Bug\u00fcn, nadir hastal\u0131klar fark\u0131ndal\u0131\u011f\u0131n\u0131 art\u0131rmak i\u00e7in bir \u0131\u015f\u0131k halkas\u0131 olu\u015fturulacak. D\u00fcnyada pek \u00e7ok \u00fcnl\u00fc bina, \u0130talya’da Pisa Kulesi, Paris’te Eyfel Kulesi, fark\u0131ndal\u0131k i\u00e7in nadirin renkleriyle \u0131\u015f\u0131kland\u0131r\u0131l\u0131yor. Bu sene T\u00fcrk N\u00f6roloji Derne\u011finin giri\u015fimiyle Galata Kulesi de nadirin renkleriyle \u0131\u015f\u0131kland\u0131r\u0131lacak.”<\/p>\n\n\n\n