{"id":15720,"date":"2021-08-02T16:38:35","date_gmt":"2021-08-02T20:38:35","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=15720"},"modified":"2021-08-10T10:11:17","modified_gmt":"2021-08-10T14:11:17","slug":"racing-against-a-ticking-time-bomb-a-fathers-plea-to-speed-breakthroughs-for-his-child-with-cystic-fibrosis","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/racing-against-a-ticking-time-bomb-a-fathers-plea-to-speed-breakthroughs-for-his-child-with-cystic-fibrosis\/","title":{"rendered":"Saatli Bir Bombaya Kar\u015f\u0131 Yar\u0131\u015fmak: Bir Baban\u0131n Kistik Fibrozisli \u00c7ocu\u011fu \u0130\u00e7in At\u0131l\u0131mlar\u0131 H\u0131zland\u0131rma \u00c7abas\u0131"},"content":{"rendered":"

Emily's Entourage (EE), 15 Temmuz 2021 Per\u015fembe g\u00fcn\u00fc, mevcut hedefe y\u00f6nelik tedavilerden fayda g\u00f6rmeyen kistik fibrozis (KF) toplulu\u011funun son 10%'si ad\u0131na savunuculuk yapmak \u00fczere ABD G\u0131da ve \u0130la\u00e7 Dairesi (FDA) ile bir \"Hasta Dinleme Oturumu\" d\u00fczenledi.<\/span><\/i> Oturumun \u00f6zetini buradan okuyabilirsiniz.<\/span><\/i><\/a> A\u015fa\u011f\u0131da, hastal\u0131kla ilgili deneyimlerini payla\u015fan KF toplulu\u011funun alt\u0131 \u00fcyesinden birinin tan\u0131kl\u0131\u011f\u0131 yer almaktad\u0131r.<\/span><\/i><\/p>\n

Merhaba, benim ad\u0131m Arek Puzia ve 7 ya\u015f\u0131nda kistik fibrozis hastas\u0131 bir k\u0131z \u00e7ocu\u011fu olan Natalie Puzia'n\u0131n babas\u0131y\u0131m. Natalie 2014 y\u0131l\u0131nda San Francisco, Kaliforniya'da do\u011fdu ve 2007 y\u0131l\u0131nda Kaliforniya'da ba\u015flat\u0131lan yeni do\u011fan kan taramas\u0131 sayesinde, do\u011fumundan sonraki \u00fc\u00e7 hafta i\u00e7inde kan tahlilinin ve ard\u0131ndan yap\u0131lan DNA testinin CFTR geninde homozigot CFTRdel2,3 (21kb) mutasyonu i\u00e7in pozitif \u00e7\u0131kt\u0131\u011f\u0131 s\u00f6ylendi. Y\u0131k\u0131ld\u0131\u011f\u0131m\u0131z\u0131 ve kafam\u0131z\u0131n kar\u0131\u015ft\u0131\u011f\u0131n\u0131 s\u00f6ylemek hafif kal\u0131r. Kistik fibrozu hi\u00e7 duymam\u0131\u015f olmam\u0131z\u0131n yan\u0131 s\u0131ra, hamile oldu\u011fumuzu \u00f6\u011frendi\u011fimizde DNA testi yapt\u0131rm\u0131\u015ft\u0131k ve test beklenen herhangi bir sorun olmadan temiz \u00e7\u0131km\u0131\u015ft\u0131.\u00a0<\/span><\/p>\n

H\u0131zl\u0131 bir \u015fekilde sa\u011fl\u0131k, t\u0131p ve nadir hastal\u0131klar d\u00fcnyas\u0131na girdik ve son 7 y\u0131l en hafif tabiriyle bir kas\u0131rga gibiydi.<\/p>\n

\"\"<\/p>\n

Ge\u00e7ti\u011fimiz 7 y\u0131l boyunca hayatlar\u0131m\u0131z dramatik bir \u015fekilde de\u011fi\u015fti. Natalie her sabah ci\u011ferlerini a\u00e7mak i\u00e7in Albuterol ile ba\u015fl\u0131yor. Daha sonra onu, biriken mukusu temizlemek i\u00e7in ci\u011ferlerini sallayan bir Vest makinesine ba\u011fl\u0131yoruz. Vest, seyahat etti\u011fimizde kendi bagaj\u0131n\u0131 gerektiren ve yakla\u015f\u0131k 30 kilo a\u011f\u0131rl\u0131\u011f\u0131nda bir makine. Vest makinesi onu sallarken, \u00f6nce bir neb\u00fcliz\u00f6r arac\u0131l\u0131\u011f\u0131yla 7% sodyum klor\u00fcr sol\u00fcsyonu soluyor. Tuz konsantrasyonu solunum yollar\u0131n\u0131 tahri\u015f ediyor ve \u00f6ks\u00fcrmesine neden oluyor. Bu sol\u00fcsyon bittikten sonra, neb\u00fcliz\u00f6r\u00fc mukusun par\u00e7alanmas\u0131na ve viskozitesinin artmas\u0131na yard\u0131mc\u0131 olan dornase alfa ilac\u0131na \u00e7evirir. Yatmadan \u00f6nce, t\u00fcm bu d\u00fczeni bir g\u00fcn i\u00e7inde ikinci kez tamamlamas\u0131 gerekir.\u00a0<\/span><\/p>\n

T\u00fcm bunlar sadece sa\u011fl\u0131kl\u0131 oldu\u011fu zaman yap\u0131l\u0131r. So\u011fuk alg\u0131nl\u0131\u011f\u0131 veya gribe yakalan\u0131rsa, bu egzersiz her d\u00f6rt saatte bir tekrarlan\u0131r.\u00a0<\/span><\/p>\n

\"\"<\/p>\n

Ge\u00e7en y\u0131l\u0131n ba\u015f\u0131nda COVID t\u00fcm d\u00fcnyay\u0131 etkisi alt\u0131na ald\u0131\u011f\u0131nda, kendimizi di\u011ferlerinden daha huzurlu hissetti\u011fimizi s\u00f6yleyebiliriz. D\u00fcnya n\u00fcfusunun aniden kar\u015f\u0131 kar\u015f\u0131ya kald\u0131\u011f\u0131 t\u00fcm ayarlamalar ve endi\u015feler, son yedi y\u0131ld\u0131r bizim i\u00e7in g\u00fcnl\u00fck bir \u015feydi ve olmaya devam ediyor. G\u00f6rd\u00fc\u011f\u00fcn\u00fcz gibi, kistik fibrozise kar\u015f\u0131 bir a\u015f\u0131 yok.\u00a0<\/span><\/p>\n

Asl\u0131nda Natalie'nin mutasyonu i\u00e7in mutasyona \u00f6zg\u00fc bir tedavi bulunmamaktad\u0131r. Natalie'nin akci\u011ferlerini m\u00fcmk\u00fcn oldu\u011funca temiz tutmak i\u00e7in kulland\u0131\u011f\u0131 teknoloji on y\u0131ldan daha eski. Kistik fibrozis alan\u0131ndaki yeni geli\u015fmeler onun i\u00e7in kesinlikle hi\u00e7bir \u015fey ifade etmiyor.\u00a0<\/span><\/p>\n

\n

Bir bak\u0131ma, sadece 7 ya\u015f\u0131nda oldu\u011fu ve di\u011fer pek \u00e7ok ki\u015fi inan\u0131lmaz ilerlemeyi alk\u0131\u015flarken sizi daha iyi hale getirecek hi\u00e7bir \u015feye sahip olmad\u0131\u011f\u0131n\u0131z\u0131 fark etmenin ac\u0131 verici korkusu ve hayal k\u0131r\u0131kl\u0131\u011f\u0131yla ezilecek kadar b\u00fcy\u00fck olmad\u0131\u011f\u0131 i\u00e7in mutluyuz.<\/p>\n<\/blockquote>\n

Natalie bu yaz resmi bir y\u00fczme tak\u0131m\u0131ndaki ilk y\u0131l\u0131na ba\u015flad\u0131. Gen\u00e7 y\u00fcz\u00fcc\u00fclerin di\u011fer ebeveynlerinin \u00e7ocuklar\u0131n\u0131 kazanmalar\u0131 ve daha iyi olmalar\u0131 i\u00e7in alk\u0131\u015flamalar\u0131n\u0131 izlerken, Natalie'nin y\u00fczmekten keyif almas\u0131 i\u00e7in nefeslerimizi tutuyoruz.<\/span><\/p>\n

\"\"<\/p>\n

Natalie'nin \u00e7\u0131\u011f\u0131r a\u00e7an ila\u00e7lara ihtiyac\u0131 var. Kistik fibrozis saatli bir bomba. \u00c7ok say\u0131da \u00e7al\u0131\u015fma i\u00e7in onlarca y\u0131l bekleme l\u00fcks\u00fcm\u00fcz yok. Geni\u015f kapsaml\u0131 ara\u015ft\u0131rma kat\u0131l\u0131m\u0131na a\u00e7\u0131\u011f\u0131z. En az\u0131ndan Natalie'nin tedavi rejiminin daha az k\u00fclfetli olmas\u0131n\u0131 istiyoruz. G\u00fcnde birden fazla kez uygulanan yo\u011fun tedavilerin durdurulmas\u0131 kesinlikle harika bir ba\u015flang\u0131\u00e7 noktas\u0131 olacakt\u0131r. Ancak nihai olarak, Natalie'nin ya\u015fam s\u00fcresini uzatabilecek ve onu bu korkun\u00e7 hastal\u0131ktan kurtarmay\u0131 hedefleyen bulu\u015flar\u0131 denemek istiyoruz.\u00a0<\/span><\/p>\n

\n

Her yeni bulu\u015fun riskler i\u00e7erdi\u011finin fark\u0131nday\u0131z. Natalie'nin doktorlar\u0131na dan\u0131\u015farak \u00f6l\u00fcm ya da kal\u0131c\u0131 hasar olas\u0131l\u0131\u011f\u0131n\u0131n d\u00fc\u015f\u00fck oldu\u011funu d\u00fc\u015f\u00fcn\u00fcrsek (1%'den daha az) muhtemelen bir denemeye kat\u0131laca\u011f\u0131z. Natalie'nin babas\u0131 olarak, Natalie ad\u0131na verdi\u011fimiz her t\u00fcrl\u00fc karar\u0131 ger\u00e7ekten, i\u00e7ten i\u00e7e onun yarar\u0131na oldu\u011funu d\u00fc\u015f\u00fcnd\u00fc\u011f\u00fcm\u00fcz i\u00e7in verdi\u011fimizi a\u00e7\u0131k\u00e7a belirtmek isterim.<\/p>\n<\/blockquote>\n

Faj terapisi, mRNA, Crispr ve di\u011fer bir\u00e7ok yeni teknolojinin hepsi b\u00fcy\u00fck umut vaat ediyor. Ancak bizler ayn\u0131 zamanda risk almaya haz\u0131r ve istekli olan \u00e7ok bilin\u00e7li t\u00fcketicileriz. \u00c7al\u0131\u015fmalara kaydolmaya ve kat\u0131lmaya haz\u0131r\u0131z. Natalie'yi bir \u00e7al\u0131\u015fmaya kaydetmeden \u00f6nce, ba\u015far\u0131l\u0131 bir sonucun Natalie'nin ya\u015fam beklentisini iyile\u015ftirece\u011fini veya tedavilerini daha az k\u00fclfetli hale getirece\u011fini bilmek isteriz. \u0130ster konak DNA's\u0131 de\u011fi\u015ftirilsin ister ge\u00e7ici bir mRNA molek\u00fcl\u00fc eklensin, gen terapileriyle ilgili \u00e7al\u0131\u015fmalar\u0131 \u00f6zellikle benimseriz. \u0130statistiklerden anl\u0131yoruz ve Natalie'nin ekibiyle her \u015feyi konu\u015fabiliriz.\u00a0<\/span><\/p>\n

Natalie'nin d\u00fcnyaya sunaca\u011f\u0131 \u00e7ok \u015fey var. Ya\u015fama sevinci kesinlikle inan\u0131lmaz. Onun kararl\u0131l\u0131\u011f\u0131na ve ya\u015fama arzusuna hayran\u0131m. Onun babas\u0131 olmaktan onur duyuyorum. Ayn\u0131 zamanda, kelimelerle ifade edilemeyecek kadar korkuyorum. Natalie benim tek \u00e7ocu\u011fum. Tek \u00e7ocu\u011fumu kaybetme d\u00fc\u015f\u00fcncesi ve korkusu tarif bile edemeyece\u011fim bir \u015fey.<\/span><\/p>\n

\"\"<\/p>\n

Arek ve KF toplulu\u011funun di\u011fer be\u015f \u00fcyesine, bu \u00f6l\u00fcmc\u00fcl hastal\u0131kla ya\u015famaya dair samimi ve ki\u015fisel deneyimlerini cesurca payla\u015ft\u0131klar\u0131 i\u00e7in daha fazla minnettar olamazd\u0131k. KF toplulu\u011funun son 10%'sinde yer alanlar\u0131n acil kar\u015f\u0131lanmam\u0131\u015f tedavi ihtiya\u00e7lar\u0131n\u0131 savunma konusundaki kararl\u0131l\u0131klar\u0131na sonsuz bir hayranl\u0131k ve hayranl\u0131k duyuyoruz.<\/span><\/i><\/p>","protected":false},"excerpt":{"rendered":"

Emily's Entourage (EE), 15 Temmuz 2021 Per\u015fembe g\u00fcn\u00fc, mevcut hedefe y\u00f6nelik tedavilerden fayda g\u00f6rmeyen kistik fibrozis (KF) toplulu\u011funun son 10%\u201csi ad\u0131na savunuculuk yapmak \u00fczere ABD G\u0131da ve \u0130la\u00e7 Dairesi (FDA) ile bir \u201dHasta Dinleme Oturumu\" d\u00fczenledi. Oturumun \u00f6zetini buradan okuyabilirsiniz. A\u015fa\u011f\u0131da bir... <\/p>\n

<\/div>\n

Daha fazla bilgi edinin<\/a><\/p>","protected":false},"author":1281,"featured_media":15725,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_seopress_robots_primary_cat":"none","_seopress_titles_title":"Emily's Entourage \u00bb Racing Against a Ticking Time Bomb: A Father\u2019s Plea to Speed Breakthroughs for His Child With Cystic Fibrosis","_seopress_titles_desc":"We were told within three weeks after her birth that her bloodwork and subsequent DNA test came back positive. To say we were devastated and confused would be an understatement. Not only had we never heard of cystic fibrosis, but we had done DNA testing when we learned we were pregnant and the test came back clean with no expected issues.\u00a0","_seopress_robots_index":"","_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-15720","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"jetpack_featured_media_url":"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Natalie-Puzia-family.png","jetpack_sharing_enabled":true,"post_mailing_queue_ids":[],"_links":{"self":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/15720","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\/1281"}],"replies":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/comments?post=15720"}],"version-history":[{"count":5,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/15720\/revisions"}],"predecessor-version":[{"id":15734,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/15720\/revisions\/15734"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media\/15725"}],"wp:attachment":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media?parent=15720"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/categories?post=15720"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/tags?post=15720"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}