ter-klor\u00fcr testi<\/a>. KF'li ki\u015filer v\u00fccutlar\u0131ndaki tuzu d\u00fczenleyemezler, bu nedenle terleri kelimenin tam anlam\u0131yla daha tuzludur. Klor\u00fcr de\u011ferinin 60mmol\/L'den y\u00fcksek olmas\u0131 KF i\u00e7in tan\u0131 koydurucudur.<\/p>\nK\u0131z\u0131m\u0131z\u0131n do\u011fduktan yakla\u015f\u0131k bir hafta sonra yap\u0131lan ilk ter testi sonucu 83't\u00fc. Te\u015fhisi nedeniyle bu \u015fa\u015f\u0131rt\u0131c\u0131 olmasa da, sonucun mutasyon tipi i\u00e7in tipik olandan daha d\u00fc\u015f\u00fck oldu\u011funu g\u00f6rmek umut vericiydi.<\/p>\n
K\u0131z\u0131m\u0131z\u0131n ilerlemesini takip etmek i\u00e7in, anne s\u00fct\u00fc yoluyla tedavinin onu nas\u0131l etkiledi\u011fini de\u011ferlendirmek amac\u0131yla birka\u00e7 ayda bir d\u00fczenli ter testleri planlamak i\u00e7in t\u0131bbi ekibimizle birlikte \u00e7al\u0131\u015ft\u0131k - ancak o zamanlar bu y\u00f6ntem kan\u0131tlanmam\u0131\u015f ve test edilmemi\u015fti.<\/p>\n
\u0130lk ter testinden birka\u00e7 ay sonra, ikinci testinin sonu\u00e7lar\u0131 geldi. Sa\u011fl\u0131k ekibi bizi co\u015fkuyla arad\u0131: \"Sonu\u00e7lar\u0131 g\u00f6rd\u00fcn\u00fcz m\u00fc?! Ter testi sonu\u00e7lar\u0131 57 olarak \u00f6l\u00e7\u00fclm\u00fc\u015f!\"<\/p>\n
K\u0131sa bir s\u00fcre sonra, \u00fc\u00e7\u00fcnc\u00fc ter testi sonu\u00e7lar\u0131 daha da iyile\u015ferek 33'e y\u00fckseldi.<\/p>\n
\u015eimdi, k\u0131z\u0131m\u0131z ikinci ya\u015f g\u00fcn\u00fcne yakla\u015f\u0131rken, son ter testi 27 \u00e7\u0131kt\u0131. Pankreas yetmezli\u011fi var ve herhangi bir yeni y\u00fcr\u00fcmeye ba\u015flayan \u00e7ocu\u011fun ruhuna (ve tutumuna) sahip.<\/p>\n
Evet, hala KF hastas\u0131; bu bir tedavi hikayesi de\u011fil ama bir umut ve ilerleme hikayesi. KF'si hala ciddi ama kontrol alt\u0131nda tutuluyor. Ge\u00e7enlerde Emily's Entourage Bilimsel Sempozyumuna kat\u0131l\u0131rken, k\u0131z\u0131m\u0131z\u0131n CFTR mod\u00fclat\u00f6r\u00fcn\u00fc \u00fcreten \u015firketin ara\u015ft\u0131rmac\u0131lar\u0131ndan biri \"KF'si var ama KF ile ya\u015fam\u0131yor\" dedi. Bu, her g\u00fcn nas\u0131l hissetti\u011fimizi \u00f6zetliyor - hastal\u0131k hala onun hayat\u0131n\u0131n bir par\u00e7as\u0131 olsa da, onu tan\u0131mlam\u0131yor.<\/p>\n
Modern bilim inan\u0131lmaz ilerlemeler getirdi. Bunlardan biri olan bu CFTR mod\u00fclat\u00f6r\u00fc ailemiz i\u00e7in bir nimet oldu, ancak ger\u00e7ek \u015fu ki, KF'li bir\u00e7ok insan i\u00e7in hala ula\u015f\u0131lamaz durumda. Tedavi pahal\u0131, bulunabilirli\u011fi s\u0131n\u0131rl\u0131 ve yaln\u0131zca belirli KF mutasyonlar\u0131na sahip olanlar i\u00e7in etkili oldu\u011fundan KF'li ki\u015filerin yakla\u015f\u0131k 10%'sini se\u00e7eneksiz b\u0131rak\u0131yor. Ara\u015ft\u0131rman\u0131n s\u0131n\u0131rlar\u0131n\u0131 zorlamaya devam etmeli, daha geni\u015f KF toplulu\u011fu i\u00e7in etkili tedaviler bulmaya \u00e7al\u0131\u015fmal\u0131 ve nihai hedefe do\u011fru \u00e7al\u0131\u015fmal\u0131y\u0131z: KF'yi bu korkun\u00e7 hastal\u0131kla ya\u015fayan herkes i\u00e7in ge\u00e7mi\u015fte kalan bir \u015fey haline getirmek.<\/p>\n
Yazarlar<\/h1>\n
![\"\"](\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Molaro-Featured-Image.png\")
<\/p>\n
Chris, davran\u0131\u015fsal sa\u011fl\u0131k entegrasyonunu ve davran\u0131\u015fsal sa\u011fl\u0131k sa\u011flay\u0131c\u0131lar\u0131n\u0131 destekleyen bir veri analizi ve bak\u0131m etkinle\u015ftirme platformu olan NeuroFlow'un CEO'sudur. West Point'teki ABD Askeri Akademisi ve Pennsylvania \u00dcniversitesi'ndeki Wharton Okulu'ndan mezun olmu\u015ftur. ABD Ordusunda Y\u00fczba\u015f\u0131 olarak Irak'ta g\u00f6rev yapt\u0131\u011f\u0131 s\u0131rada Bronz Y\u0131ld\u0131z ile \u00f6d\u00fcllendirilmi\u015f ve NeuroFlow'u kurduktan sonra EY'nin Y\u0131l\u0131n Giri\u015fimcisi \u00f6d\u00fcl\u00fcn\u00fc kazanm\u0131\u015ft\u0131r.<\/p>\n
Erica, Jefferson Health'te ba\u011f\u0131ml\u0131l\u0131k t\u0131bb\u0131 alan\u0131nda uzmanla\u015fm\u0131\u015f bir Doktor Asistan\u0131d\u0131r. Pittsburgh \u00dcniversitesi ve Marywood \u00dcniversitesi mezunudur ve \u015fu anda Thomas Jefferson \u00dcniversitesi'nde Sa\u011fl\u0131k Bilimleri Doktoras\u0131 (DHs) derecesini s\u00fcrd\u00fcrmektedir.<\/p>\n
Molaro Ailesi Philadelphia'da ya\u015f\u0131yor ve y\u00fcr\u00fcy\u00fc\u015f yapmaktan, ke\u015ffetmekten ve seyahat etmekten ho\u015flan\u0131yor. Madison, hen\u00fcz 23 ayl\u0131kken, 6 \u00fclke, 8 eyalet ve 40'tan fazla u\u00e7u\u015f yaparak seyahat etmekten keyif al\u0131yor ve elbette \u00f6\u011fleden sonralar\u0131n\u0131 yerel park\u0131n sal\u0131ncak setinde ge\u00e7irmekten ho\u015flan\u0131yor.<\/p>","protected":false},"excerpt":{"rendered":"
Emily's Entourage, KF Fark\u0131ndal\u0131k Ay\u0131 boyunca KF toplulu\u011fu \u00fcyelerini hikayelerini payla\u015fmaya davet ediyor. Bug\u00fcnk\u00fc blog yaz\u0131s\u0131nda, KF te\u015fhisi konulan do\u011fmam\u0131\u015f k\u0131zlar\u0131n\u0131 tedavi etmek i\u00e7in harekete ge\u00e7en, rahimde tedavi sa\u011flamak ve sa\u011fl\u0131k sonu\u00e7lar\u0131n\u0131 iyile\u015ftirmek i\u00e7in t\u0131bbi g\u00f6zetim alt\u0131nda CFTR mod\u00fclat\u00f6rleri kullanan Chris ve Erica Molaro \u00e7ifti yer al\u0131yor. Ocak ay\u0131nda... <\/p>\n
<\/div>\n
Daha fazla bilgi edinin<\/a><\/p>","protected":false},"author":1719,"featured_media":24477,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_seopress_titles_title":"%%post_title%%","_seopress_titles_desc":"%%post_excerpt%%","_seopress_robots_index":"","_seopress_robots_follow":"","_seopress_robots_imageindex":"","_seopress_robots_snippet":"","_seopress_robots_primary_cat":"none","_seopress_robots_breadcrumbs":"","_seopress_robots_freeze_modified_date":"","_seopress_robots_custom_modified_date":"","_seopress_robots_canonical":"","_seopress_social_fb_title":"","_seopress_social_fb_desc":"","_seopress_social_fb_img":"","_seopress_social_fb_img_attachment_id":0,"_seopress_social_fb_img_width":0,"_seopress_social_fb_img_height":0,"_seopress_social_twitter_title":"","_seopress_social_twitter_desc":"","_seopress_social_twitter_img":"","_seopress_social_twitter_img_attachment_id":0,"_seopress_social_twitter_img_width":0,"_seopress_social_twitter_img_height":0,"_seopress_redirections_value":"","_seopress_redirections_enabled":"","_seopress_redirections_enabled_regex":"","_seopress_redirections_logged_status":"both","_seopress_redirections_param":"","_seopress_redirections_type":301,"_seopress_analysis_target_kw":"","_seopress_news_disabled":"","_seopress_video_disabled":"","_seopress_video":[],"_seopress_pro_schemas_manual":[],"_seopress_pro_rich_snippets_disable_all":"","_seopress_pro_rich_snippets_disable":[],"_seopress_pro_schemas":[],"_monsterinsights_skip_tracking":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_post_was_ever_published":false},"categories":[6],"tags":[211,215,209,214,213,137],"class_list":["post-24470","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-emilys-entourage-blog","tag-cf-advocacy","tag-cf-before-birth","tag-cfa","tag-cfa-month","tag-cystic-fibrosis-awareness","tag-cystic-fibrosis-awareness-month"],"acf":[],"jetpack_sharing_enabled":true,"jetpack_featured_media_url":"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Molaro-Featured-Image.png","post_mailing_queue_ids":[],"_links":{"self":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/24470","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/users\/1719"}],"replies":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/comments?post=24470"}],"version-history":[{"count":3,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/24470\/revisions"}],"predecessor-version":[{"id":24478,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/24470\/revisions\/24478"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media\/24477"}],"wp:attachment":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media?parent=24470"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/categories?post=24470"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/tags?post=24470"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
![\"\"](\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/IMG_06902-768x1024.jpg\")
KF'li olarak do\u011faca\u011f\u0131n\u0131 \u00f6\u011frendi\u011fimiz g\u00fcn sonsuza dek haf\u0131zam\u0131zda yer edecek. Ger\u00e7ek \u015fu ki, bu haber korkun\u00e7 bir haberdi. Trajikti. Y\u0131k\u0131c\u0131yd\u0131.<\/p>\n![\"\"](\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/IMG_66403-1024x984.jpg\")
Erica hastaneden taburcu olduktan sonra, t\u0131bbi ekibinin rehberli\u011finde CFTR mod\u00fclat\u00f6r tedavisine devam ederek cesur bir ad\u0131m daha att\u0131. Bu kez tedaviyi anne s\u00fct\u00fc yoluyla sa\u011flayarak bunu yapan ilk annelerden biri, hatta birincisi oldu.<\/p>\n