{"id":16874,"date":"2022-05-27T08:00:20","date_gmt":"2022-05-27T12:00:20","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=16874"},"modified":"2022-06-02T09:39:15","modified_gmt":"2022-06-02T13:39:15","slug":"exceptional-in-every-way-raising-a-son-who-is-the-rarest-of-the-rare","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/exceptional-in-every-way-raising-a-son-who-is-the-rarest-of-the-rare\/","title":{"rendered":"Her Y\u00f6n\u00fcyle Ola\u011fan\u00fcst\u00fc: Nadirlerin Nadidesi Bir O\u011ful Yeti\u015ftirmek"},"content":{"rendered":"

Emily's Entourage, KF Fark\u0131ndal\u0131k Ay\u0131 boyunca kistik fibrozis (KF) toplulu\u011fu \u00fcyelerini hikayelerini payla\u015fmaya davet ediyor. Bug\u00fcnk\u00fc blog yaz\u0131s\u0131, KF'li bir \u00e7ocu\u011fun ebeveyni olan Jason DeMott'a ait.\u00a0<\/span><\/i><\/p>\n

\u00dc\u00e7\u00fcnc\u00fc \u00e7ocu\u011fumuz Turner Ryan DeMott fiziksel geli\u015fiminde gecikmeler ya\u015fad\u0131\u011f\u0131nda endi\u015felendik. \u00c7ocuk doktorumuz endi\u015felenmedi. Ancak sorun devam edince cevaplar i\u00e7in bast\u0131rd\u0131k.\u00a0<\/span><\/p>\n

O\u011flumuzu uzmanlara g\u00f6t\u00fcrmek i\u00e7in aylar harcad\u0131k. Tahliller ve g\u00f6r\u00fcnt\u00fclemeler istendi. Testler yap\u0131ld\u0131. Dokulardan \u00f6rnekler al\u0131nd\u0131. O zamanlar buna \"T\u0131bbi Gizem Turu\" diyordum. Geriye d\u00f6n\u00fcp bakt\u0131\u011f\u0131mda bu niteleme kula\u011fa fazla romantik geliyor. Yanl\u0131\u015f te\u015fhisler ve nafile cevap aray\u0131\u015flar\u0131 sinir bozucu ve stresliydi. Ebeveynlerin b\u00f6yle bir durumda Google'da arama yapmaktan ka\u00e7\u0131nmalar\u0131 gerekse de, bunu s\u00f6ylemek yapmaktan daha kolay. Sonu\u00e7lar korkutucuydu.<\/span><\/p>\n

\"\"<\/p>\n

Ve sonra, sadece kirli bir bebek bezinin kokusuyla, bir gastroenterolog nihayet vakay\u0131 \u00e7\u00f6zd\u00fc. \"Kistik fibrozis taramas\u0131 yapt\u0131rd\u0131n\u0131z m\u0131?\" diye sordu. N\u00f6rom\u00fcsk\u00fcler nedenlerin pe\u015fine d\u00fc\u015f\u00fclmesinin ard\u0131ndan hipotez de\u011fi\u015fti. Ya Turner'\u0131n semptomlar\u0131 zay\u0131f sindirimin bir sonucuysa? KF hastalar\u0131nda GI sorunlar\u0131 \u00e7ok yayg\u0131nd\u0131r ve genellikle gecikmi\u015f veya bodur b\u00fcy\u00fcme ile sonu\u00e7lan\u0131r. KF ile ili\u015fkili bir GI sorunu, baz\u0131 temel besin maddelerinin emiliminin bozulmas\u0131d\u0131r - bu belirti asl\u0131nda ki\u015finin d\u0131\u015fk\u0131s\u0131na da yans\u0131yabilir. Bu doktorun uzman burnu, ba\u015fka kimsenin yakalayamad\u0131\u011f\u0131 bir \u015feyi yakalam\u0131\u015ft\u0131.\u00a0<\/span><\/p>\n

Kistik fibrozis i\u00e7in alt\u0131n standart tan\u0131 arac\u0131 olan ter testi istendi ve KF yolculu\u011fumuz ba\u015flad\u0131. Genetik testler, o\u011flumuzun bu ilerleyici, zay\u0131flat\u0131c\u0131 ve ya\u015fam\u0131 k\u0131saltan hastal\u0131\u011f\u0131n iki nadir mutasyonuna (biri sa\u00e7ma mutasyon olmak \u00fczere) sahip oldu\u011funu do\u011frulad\u0131. Net bir tan\u0131ya giden yol uzundu. T\u0131bbi bak\u0131m i\u00e7in iddial\u0131 bir \u015fekilde savunuculuk yapman\u0131n zor ama kritik oldu\u011funu \u00f6\u011frendik.\u00a0<\/span><\/p>\n

Turner'\u0131n g\u00f6\u011f\u00fcs hastal\u0131klar\u0131 uzman\u0131 k\u00fc\u00e7\u00fckl\u00fc\u011f\u00fcnden beri yan\u0131nda olmas\u0131na ra\u011fmen, bak\u0131m ekibi \u00fc\u00e7 farkl\u0131 hastanede bulunan \u00e7e\u015fitli uzmanlar\u0131 i\u00e7erecek \u015fekilde geni\u015fledi. Son zamanlarda, en \u00e7ok odaklan\u0131lan \u00e7abalardan baz\u0131lar\u0131 uzman bir karaci\u011fer nakli ekibi ile olmu\u015ftur. Evet, bir karaci\u011fer. KF yayg\u0131n olarak bir solunum hastal\u0131\u011f\u0131 olarak bilinse de, asl\u0131nda birden fazla organ\u0131 ve sistemi etkileyen bir t\u00fcm v\u00fccut hastal\u0131\u011f\u0131d\u0131r. Turner'da KF ile ili\u015fkili karaci\u011fer hastal\u0131\u011f\u0131 (CFLD) denen bir hastal\u0131k var ve \u015fu anda \"son evre\" olarak te\u015fhis edilmi\u015f durumda.\u00a0<\/span><\/p>\n

Bizi deh\u015fete d\u00fc\u015f\u00fcren \u015fey, bu alandaki ara\u015ft\u0131rmalar\u0131n yetersiz olmas\u0131. Turner'\u0131n muhtemelen yeni bir karaci\u011fere ihtiyac\u0131 olacak. Standart s\u00fcre\u00e7, hasar nakil i\u00e7in yalvarana kadar izlemek ve beklemektir. Neyse ki yak\u0131n zamanda nakli geciktirmek i\u00e7in cerrahi bir se\u00e7enek olabilece\u011fini \u00f6\u011frendik. KF'de umut \u0131\u015f\u0131klar\u0131 \u00f6nemlidir.<\/span><\/p>\n

O\u011flumuzun sa\u011fl\u0131\u011f\u0131 i\u00e7in gerekli olan bak\u0131m\u0131 takip etmekten vazge\u00e7medik. \u015eu anda 17 ya\u015f\u0131nda olan o\u011flumuz, g\u00fcnl\u00fck ya\u015fam\u0131n\u0131 etkileyen ciddi t\u0131bbi zorluklar kar\u015f\u0131s\u0131nda kendini savunman\u0131n \u00f6nemini - endi\u015felerini nas\u0131l iletece\u011fini, sorular soraca\u011f\u0131n\u0131, fikirlerini dile getirece\u011fini ve bir \u015feyler belirsiz g\u00f6r\u00fcnd\u00fc\u011f\u00fcnde tekrar kontrol edece\u011fini - \u00f6\u011freniyor.\u00a0<\/span><\/p>\n

\"\"<\/p>\n

Turner do\u011fdu\u011fundan beri \u00e7ok \u015fey de\u011fi\u015fti. KF toplulu\u011fu i\u00e7in \u00e7\u0131\u011f\u0131r a\u00e7an bir\u00e7ok ba\u015far\u0131 elde edildi. KF'li insanlar\u0131n 90%'si i\u00e7in semptomlar\u0131 b\u00fcy\u00fck \u00f6l\u00e7\u00fcde azaltan, hayat de\u011fi\u015ftiren, hayat kurtaran mutasyon hedefli ila\u00e7 tedavileri var. Bu ba\u015far\u0131 kar\u015f\u0131s\u0131nda hayretler i\u00e7indeyiz ve bu t\u0131bbi mucizelerden yararlananlar i\u00e7in mutluyuz. Ancak, o\u011flumuz da dahil olmak \u00fczere baz\u0131lar\u0131 i\u00e7in bu tedaviler bir se\u00e7enek de\u011fil.<\/span><\/p>\n

\u00c7ocu\u011fum ola\u011fan\u00fcst\u00fcd\u00fcr. Foto\u011frafik bir haf\u0131zas\u0131 var gibi g\u00f6r\u00fcn\u00fcyor. Ola\u011fan\u00fcst\u00fc bir s\u0131n\u0131f derecesi var. Nazik ve c\u00f6mert. Ve o, kural\u0131n istisnas\u0131 olan 10% KF'li insanlar aras\u0131nda yer al\u0131yor. Turner'\u0131n nadir mutasyonlar\u0131 onu mucize ila\u00e7lar i\u00e7in uygun hale getirmiyor.<\/span><\/p>\n

Bu d\u0131\u015f 10%'de ya\u015fayanlar i\u00e7in mucize tedaviler hen\u00fcz yok. KF'li T\u00dcM insanlar i\u00e7in yorulmadan m\u00fccadele eden Emily ve \u00e7evresine son derece minnettar\u0131z. Turner, Emily ve di\u011fer 10%'nin geri kalan\u0131n\u0131n da di\u011fer herkes gibi hayat kurtaran tedavilere sahip olaca\u011f\u0131na dair umudumuzu koruyoruz. Bunun ger\u00e7ekle\u015febilece\u011fine inan\u0131yoruz. Kesinlikle olmal\u0131.\u00a0<\/span><\/p>\n

 <\/p>\n

KF Fark\u0131ndal\u0131k Ay\u0131 kampanyam\u0131z\u0131n 1. kademe sponsorlu\u011fu i\u00e7in Vertex Pharmaceuticals, Inc. \u015firketine \u00f6zel olarak te\u015fekk\u00fcr ederiz.<\/em><\/p>","protected":false},"excerpt":{"rendered":"

Emily's Entourage, KF Fark\u0131ndal\u0131k Ay\u0131 boyunca kistik fibrozis (KF) toplulu\u011fu \u00fcyelerini hikayelerini payla\u015fmaya davet ediyor. Bug\u00fcnk\u00fc blog yaz\u0131s\u0131 KF'li bir \u00e7ocu\u011fun ebeveyni olan Jason DeMott'a ait. \u00dc\u00e7\u00fcnc\u00fc \u00e7ocu\u011fumuz Turner Ryan DeMott fiziksel geli\u015fiminde gecikmeler ya\u015fad\u0131\u011f\u0131nda endi\u015felendik. \u00c7ocuk doktorumuz de\u011fildi. Ancak, sorun ortaya \u00e7\u0131kt\u0131\u011f\u0131nda... <\/p>\n

<\/div>\n

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