<\/p>\n
Nadir Hastal\u0131klar G\u00f6n\u00fcll\u00fcleri Derne\u011fi ve Avrupa T\u0131p Uzmanlar\u0131 Birli\u011fi Nadir Hastal\u0131klar Komitesi taraf\u0131ndan, Genetik ve Nadir Hastal\u0131klar Tan\u0131 ve Ara\u015ft\u0131rma Merkezinde SMA, epilepsi, fenilketon\u00fcri gibi nadir hastal\u0131klar\u0131n g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131, tarama y\u00f6ntemleri, yenilik\u00e7i tedaviler ve tarama programlar\u0131 hakk\u0131nda bas\u0131n toplant\u0131s\u0131 d\u00fczenlendi.-<\/p>\n
Nadir Hastal\u0131klar G\u00f6n\u00fcll\u00fcleri Derne\u011fi Ba\u015fkan\u0131 Do\u00e7. Dr. G\u00fclay Ceylaner, burada yapt\u0131\u011f\u0131 konu\u015fmada, nadir hastal\u0131klarda genetik fakt\u00f6rlerin b\u00fcy\u00fck \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131n\u0131 s\u00f6yledi. \u00d6zellikle akraba evlili\u011fi oranlar\u0131n\u0131n fazla oldu\u011fu b\u00f6lgelerde nadir hastal\u0131k s\u0131kl\u0131\u011f\u0131n\u0131n da art\u0131\u011f\u0131na i\u015faret eden Ceylaner, literat\u00fcrde yakla\u015f\u0131k 8 bin hastal\u0131k tan\u0131mland\u0131\u011f\u0131 bilgisini verdi.<\/p>\n
T\u00fcrkiye’de nadir hastal\u0131k s\u0131kl\u0131\u011f\u0131n\u0131n fazla oldu\u011funu anlatan Ceylaner, bu hastal\u0131klar\u0131n \u00f6nlenmesinde evlilik \u00f6ncesi taramalar\u0131n \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131n\u0131 ifade etti.<\/p>\n
Kars aile mahkemesinin 20 A\u011fustos’ta, “Yenido\u011fan Tarama Program\u0131” kapsam\u0131nda topuk kan\u0131 al\u0131nmas\u0131 hakk\u0131nda verdi\u011fi karara y\u00f6nelik de\u011ferlendirmelerde bulunan Ceylaner, bu konuda mahkeme s\u00fcrecinin devam etti\u011fini belirtti.<\/p>\n
Ceylaner, s\u00f6zlerini \u015f\u00f6yle s\u00fcrd\u00fcrd\u00fc:<\/p>\n
“Taramalar, bu \u00fclkenin yapmas\u0131 gereken \u00f6nemli \u015fey. Bebe\u011fin topu\u011fundan al\u0131nan bir damla kanla, olas\u0131 hastal\u0131klar\u0131n erken tan\u0131s\u0131n\u0131 koyarak o \u00e7ocu\u011fun b\u00fct\u00fcn hayat\u0131n\u0131 de\u011fi\u015ftirebiliyorsunuz. \u015eu anda 6 hastal\u0131k taran\u0131yor ve daha da art\u0131r\u0131lmas\u0131 planlan\u0131yor. Fenilketon\u00fcri, konjenital hipotiroidi, kistik fibrozis, biyotinidaz eksikli\u011fi, konjenital adrenal hiperplazisi ve SMA ile ilgili topuk kan\u0131 taramalar\u0131 yap\u0131l\u0131yor. Erken tan\u0131, o \u00e7ocu\u011fun zeka \u00f6z\u00fcrl\u00fc olmas\u0131n\u0131, farkl\u0131 sa\u011fl\u0131k sorunlar\u0131 ya\u015famas\u0131n\u0131 engelliyor. O kadar \u00f6nemli bir \u015fey ki… Bu y\u00fczden de taramalar\u0131n yap\u0131lmas\u0131-yap\u0131lmamas\u0131 tart\u0131\u015fmas\u0131n\u0131 bile biz kabul edemiyoruz. Bunun mutlaka yap\u0131lmas\u0131, tarama program\u0131n\u0131n daha da geni\u015fletilmesi laz\u0131m.”<\/p>\n
Evlilik \u00f6ncesi taramalar\u0131n da hastal\u0131\u011f\u0131n olu\u015fmadan \u00f6nlenmesi anlam\u0131na geldi\u011fini vurgulayan G\u00fclay Ceylaner, T\u00fcrkiye’de 1990’l\u0131 y\u0131llar\u0131n ba\u015f\u0131nda evlilik \u00f6ncesi \u00e7iftler i\u00e7in ba\u015flat\u0131lan talasemi (Akdeniz Anemisi) taramalar\u0131 sayesinde hasta say\u0131s\u0131n\u0131n daha az g\u00f6r\u00fcld\u00fc\u011f\u00fcn\u00fc aktard\u0131.<\/p>\n
“Evlenecek \u00e7iftlere, ba\u015fta pahal\u0131 gibi g\u00f6r\u00fcnse de geni\u015f gen taramalar\u0131 yap\u0131lmas\u0131, o hastal\u0131klar\u0131n olmamas\u0131n\u0131 sa\u011flamak, \u00e7ok k\u0131sa s\u00fcre i\u00e7erisinde ekonomik olarak \u00fclkeye katk\u0131 \u015feklinde d\u00f6n\u00fcyor. Biz de geni\u015f gen taramalar\u0131n\u0131 \u00f6neriyoruz.” diyen Ceylaner, ta\u015f\u0131y\u0131c\u0131 genetik hastal\u0131k riski ta\u015f\u0131yan ailelerin t\u00fcp bebek y\u00f6ntemiyle sa\u011fl\u0131kl\u0131 bebek sahibi olabilece\u011finin alt\u0131n\u0131 \u00e7izdi.<\/p>\n
Ceylaner, “\u00c7ocuk hastaysa bile, topuktan ald\u0131\u011f\u0131n\u0131z bir damla kanla erken tan\u0131 koydu\u011funuzda, tamamen normal geli\u015fmesini sa\u011flayabiliyorsunuz. B\u00f6yle bir \u015feyi \u00e7ocuklar\u0131n elinden almaya kimsenin hakk\u0131 yok. Taramalar\u0131 \u00e7ok \u00f6nemsiyoruz, bu konuda insanlar\u0131n e\u011fitimi noktas\u0131nda da hep birlikte \u00e7al\u0131\u015f\u0131lmas\u0131 gerekiyor.” a\u00e7\u0131klamas\u0131nda bulundu.<\/p>\n
Avrupa T\u0131p Uzmanlar\u0131 Birli\u011fi Nadir Hastal\u0131klar Komitesi Ba\u015fkan Yard\u0131mc\u0131s\u0131 Prof. Dr. Serdar Ceylaner de d\u00fcnya genelinde her 10 ki\u015fiden 1’inde nadir hastal\u0131k g\u00f6r\u00fcld\u00fc\u011f\u00fcne dikkati \u00e7ekerek, “Geni\u015fletilmi\u015f yenido\u011fan taramas\u0131na art\u0131k ihtiyac\u0131m\u0131z var. Yani \u015fu anda taranan s\u0131k hastal\u0131klar\u0131n yan\u0131nda nadir hastal\u0131klar\u0131 da taramam\u0131z gerekiyor.” diye konu\u015ftu.<\/p>\n
Benzer \u015fekilde evlilik ve gebelik \u00f6ncesi taramalar\u0131n b\u00fcy\u00fck \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131n\u0131 vurgulayan Ceylaner, \u00fclkeler a\u00e7\u0131s\u0131ndan bu taramalar\u0131n hastal\u0131klar\u0131n tedavisi i\u00e7in harcanan mebla\u011fdan \u00e7ok daha ekonomik oldu\u011funu belirtti.<\/p>\n
Ceylaner, T\u00fcrkiye’deki merkezlerde genetik hastal\u0131klara y\u00f6nelik t\u00fcm testlerin ba\u015far\u0131yla yap\u0131ld\u0131\u011f\u0131n\u0131, test malzemelerinin y\u00fczde 90’\u0131n\u0131n da yerli imkanlarla \u00fcretildi\u011fini s\u00f6yledi.<\/p>\n
Son d\u00f6nemde topuk kan\u0131 taramalar\u0131 ve a\u015f\u0131 kar\u015f\u0131tl\u0131\u011f\u0131nda art\u0131\u015f g\u00f6r\u00fcld\u00fc\u011f\u00fcn\u00fc, bunda sosyal medyadaki yanl\u0131\u015f bilgilerin etkisinin oldu\u011funu anlatan Ceylaner, \u015funlar\u0131 kaydetti:<\/p>\n
“Bizler hekim olarak a\u015f\u0131 oluyoruz, \u00e7ocuklar\u0131m\u0131za topuk kan\u0131 taramas\u0131 yapt\u0131r\u0131yoruz, buna benzeyen b\u00fct\u00fcn \u00e7al\u0131\u015fmalara kat\u0131l\u0131yoruz. \u00c7\u00fcnk\u00fc bunlar ger\u00e7ekten sa\u011fl\u0131\u011f\u0131n y\u00f6netilmesinde \u00e7ok \u00f6nemli. Bu taramalar sayesinde baz\u0131 hastal\u0131klar\u0131 art\u0131k neredeyse g\u00f6rmez hale do\u011fru gidiyoruz. \u00d6rne\u011fin, K\u0131br\u0131s’ta bir d\u00f6nem \u00e7ok yayg\u0131n g\u00f6r\u00fclen beta talasemi art\u0131k neredeyse kayboldu. \u0130yi ve etkin taramalar, neredeyse bu hastal\u0131klar\u0131 tarihe g\u00f6mecek. Kesin olarak s\u00f6yleyebiliriz, bu taramalar\u0131n yap\u0131lmas\u0131 gerekiyor.<\/p>\n
Maalesef bu konularda bir kara propaganda da d\u00f6n\u00fcyor, sosyal medya burada tehlikeli alanlardan birisi haline geldi. Burada do\u011fru bilgileri vermek \u00f6nemli, baz\u0131 karanl\u0131k senaryolar\u0131 anlatan kampanyalar\u0131 da bilim insanlar\u0131n\u0131n g\u00f6z \u00f6n\u00fcnde bulundurmas\u0131, bunlar\u0131n baz\u0131lar\u0131n\u0131n da engellenmesi gerekli olabilir. \u00c7\u00fcnk\u00fc ki\u015filerin bu yanl\u0131\u015f bilgilerle donanmas\u0131, daha sonra d\u00fczeltilemez baz\u0131 sorunlar\u0131 beraberinde getiriyor. \u00d6rne\u011fin a\u015f\u0131 kar\u015f\u0131tl\u0131\u011f\u0131, belli hastal\u0131klar\u0131n ileride hortlamas\u0131na neden olabilir. \u00c7i\u00e7ek a\u015f\u0131s\u0131 sayesinde hastal\u0131k d\u00fcnyada ortadan kalkt\u0131, bu \u00e7ok b\u00fcy\u00fck bir ba\u015far\u0131. Buna benzeyen bir\u00e7ok hastal\u0131k kayboldu.”<\/p>\n
A\u015f\u0131n\u0131n insan hayat\u0131n\u0131 koruyan ve hastal\u0131klar\u0131 \u00f6nleyen \u00e7ok \u00f6nemli bir silah oldu\u011funu vurgulayan Prof. Dr. Serdar Ceylaner, “Sosyolojik ara\u015ft\u0131r\u0131malar da \u00e7ok \u00f6nemli, neden a\u015f\u0131 kar\u015f\u0131tl\u0131\u011f\u0131n\u0131n ba\u015flad\u0131\u011f\u0131 belirlenmeli, \u00e7\u00fcnk\u00fc bu tek ba\u015f\u0131na hekimlerin ba\u015f edebilece\u011fi bir \u015fey de\u011fil. Sosyal medyadaki bilgi kirlili\u011fi \u00e7ok etkili maalesef, bunun \u00f6nlenmesi laz\u0131m.” \u015feklinde konu\u015ftu.<\/p>\n
“mRNA a\u015f\u0131lar\u0131n\u0131n genetik yap\u0131y\u0131 bozdu\u011fu”, “DNA’y\u0131 de\u011fi\u015ftirdi\u011fi” \u015feklindeki iddialar\u0131n an\u0131msat\u0131lmas\u0131 \u00fczerine Ceylaner, \u015fu a\u00e7\u0131klamalarda bulundu:<\/p>\n
“A\u015f\u0131lar, bizim geneti\u011fimizi bozmaz hatta korur. Unutulmamal\u0131 ki bir \u015fey uygulamaya girmeden \u00f6nce binlerce \u00e7al\u0131\u015fma sonras\u0131 yap\u0131labiliyor. Bu \u00e7al\u0131\u015fmalar, Sa\u011fl\u0131k Bakanl\u0131klar\u0131 ve uluslararas\u0131 \u00f6rg\u00fctlerce denetleniyor. Kovid-19’a kar\u015f\u0131 a\u015f\u0131 geli\u015ftirildi, uyguland\u0131. Bug\u00fcn art\u0131k Kovid-19’dan \u00f6lm\u00fcyoruz. E\u011fer endi\u015fe duyarsak \u00f6l\u00fcr\u00fcz, a\u015f\u0131n\u0131n \u00f6nemini anlamam\u0131z gerekiyor.”<\/p>\n
Prof. Dr. Ceylaner, spor s\u0131ras\u0131nda ger\u00e7ekle\u015fen ani \u00f6l\u00fcmlerin ve sakatl\u0131klar\u0131n nedenini anlayabilmek ve \u00f6nlem alabilmek i\u00e7in d\u00fcnya genelinde bir\u00e7ok \u00e7al\u0131\u015fma y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcne i\u015faret etti.<\/p>\n
Bir ki\u015fide ani \u00f6l\u00fcm ve sakatl\u0131klara neden olabilen genlere ili\u015fkin bilgilerin her ge\u00e7en g\u00fcn artt\u0131\u011f\u0131na dikkati \u00e7eken Ceylaner, \u015f\u00f6yle devam etti:<\/p>\n
“Bunlar kalp kas\u0131 ve kalp ritim bozukluklar\u0131, ba\u011f dokusu hastal\u0131klar\u0131, kanama ve p\u0131ht\u0131la\u015fma bozukluklar\u0131, ba\u011f\u0131\u015f\u0131kl\u0131k sistemi, beyin ve sinir sisteminde g\u00f6revli olan metabolizmay\u0131 etkileyen genlerdir. Kendinde hi\u00e7bir bulgu olmasa bile ailesinde bu hastal\u0131klara sahip olan sporcular ba\u015fta olmak \u00fczere aktif spor yapan herkes i\u00e7in genetik tarama yap\u0131larak tedbir al\u0131nmal\u0131. Sporcular\u0131n hem yaralanmalar\u0131 hem sakatl\u0131klar\u0131 ve hem de hayati risklerinin \u00f6nlenebilmesi i\u00e7in geni\u015f bir tarama yap\u0131lmas\u0131n\u0131 \u00f6neriyoruz. Bu taramalar, ki\u015fi spora ba\u015flamadan \u00f6nce yapt\u0131r\u0131lmal\u0131d\u0131r.”<\/p>\n