\u0130zmir\u2019de ya\u015fayan 47 ya\u015f\u0131ndaki arkeolog Mina Ero\u011flu, Medicana Sa\u011fl\u0131k Grubu N\u00f6roloji B\u00f6l\u00fcm\u00fc\u2019nden Do\u00e7. Dr. Hasan Arma\u011fan Uysal taraf\u0131ndan konulan te\u015fhisle zorlu bir m\u00fccadeleye ba\u015flad\u0131. Kendisine nadir g\u00f6r\u00fclen \u2018SOD1 gen mutasyonu\u2019na y\u00f6nelik g\u00fcncel bir tedavi protokol\u00fc uygulanan Ero\u011flu, genetik haritas\u0131n\u0131n erken \u00e7\u0131kar\u0131lmas\u0131n\u0131n \u00f6nemini vurgulayarak, hayata s\u0131k\u0131 s\u0131k\u0131ya tutundu\u011funu belirtti. Hastal\u0131\u011f\u0131n f\u0131t\u0131k gibi rahats\u0131zl\u0131klarla kar\u0131\u015ft\u0131r\u0131lmas\u0131 nedeniyle d\u00fcnyada tan\u0131 s\u00fcresinin 10-14 ay\u0131 bulabildi\u011fini ifade eden Do\u00e7. Dr. Uysal ise, ALS\u2019de erken te\u015fhisin hayati \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131na dikkat \u00e7ekti.
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\u00dcnl\u00fc fizik\u00e7i Stephen Hawking\u2019in 21 ya\u015f\u0131ndayken yakaland\u0131\u011f\u0131 ve onun ad\u0131yla an\u0131lan Amyotrofik Lateral Skleroz (ALS), beyin ve omurilikteki motor n\u00f6ronlar\u0131n hasar g\u00f6rmesiyle ilerleyen n\u00f6rodejeneratif bir hastal\u0131k. Genellikle el ve ayaklarda g\u00fc\u00e7s\u00fczl\u00fck, kas seyirmeleri ile ba\u015flayan hastal\u0131k, duyular\u0131 ve zihinsel yetenekleri etkilemeksizin zamanla v\u00fccut kaslar\u0131n\u0131 hareketsiz b\u0131rakabiliyor. Vakalar\u0131n y\u00fczde 90\u2019\u0131ndan fazlas\u0131 ortada belirgin bir aile \u00f6yk\u00fcs\u00fc olmadan aniden ortaya \u00e7\u0131k\u0131yor. \u0130zmir\u2019de ya\u015fayan 47 ya\u015f\u0131ndaki arkeolog ve haber edit\u00f6r\u00fc Mina Ero\u011flu ise bu hastal\u0131kla ailesinin ge\u00e7mi\u015fi nedeniyle \u00e7ok erken ya\u015flarda tan\u0131\u015ft\u0131. Medicana International \u0130zmir Hastanesi N\u00f6roloji Uzman\u0131 Do\u00e7. Dr. Hasan Arma\u011fan Uysal\u2019\u0131n kontrol\u00fcnde ALS hastal\u0131\u011f\u0131na kar\u015f\u0131 zorlu bir tedavi s\u00fcrecine giren Ero\u011flu, 21 Haziran ALS Fark\u0131ndal\u0131k G\u00fcn\u00fc \u00f6ncesinde ALS ile ya\u015faman\u0131n ne anlama geldi\u011fini anlatt\u0131.<\/p>\n
Aile ge\u00e7mi\u015fi te\u015fhisin ipucu oldu
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Ge\u00e7ti\u011fimiz y\u0131l diz a\u011fr\u0131s\u0131 ve y\u00fcr\u00fcy\u00fc\u015f bozuklu\u011fu \u015fikayetleriyle hekime ba\u015fvuran Mina Ero\u011flu, yap\u0131lan tetkikler sonucunda iki teyzesini ve iki kuzenini hayattan koparan ALS te\u015fhisi ald\u0131. Belirtilerin ilk ba\u015fta ortopedik problemlerle kar\u0131\u015ft\u0131r\u0131ld\u0131\u011f\u0131n\u0131 s\u00f6yleyen Ero\u011flu, ailesindeki hastal\u0131k \u00f6yk\u00fcs\u00fcn\u00fcn tan\u0131 s\u00fcrecinde belirleyici oldu\u011funu ifade etti. Anne taraf\u0131nda ALS\u2019nin uzun y\u0131llard\u0131r g\u00f6r\u00fcld\u00fc\u011f\u00fcn\u00fc aktaran Ero\u011flu, “\u0130ki teyzemi ve iki kuzenimi ALS nedeniyle kaybettik. Ailemde hastal\u0131\u011f\u0131n oldu\u011funu biliyordum ama insan yine de ba\u015f\u0131na gelece\u011fini d\u00fc\u015f\u00fcnemiyor” dedi.
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Yap\u0131lan genetik incelemelerde ailesinde ku\u015faktan ku\u015fa\u011fa aktar\u0131lan SOD1 gen mutasyonunu ta\u015f\u0131d\u0131\u011f\u0131n\u0131n ortaya \u00e7\u0131kt\u0131\u011f\u0131n\u0131 anlatan Ero\u011flu, “Mutasyonu annemden ald\u0131m. Annem ta\u015f\u0131y\u0131c\u0131 olmas\u0131na ra\u011fmen herhangi bir belirti g\u00f6stermiyor ancak bende hastal\u0131k ortaya \u00e7\u0131kt\u0131” ifadelerini kulland\u0131.
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Aile bireylerinin ge\u00e7mi\u015fte ALS tan\u0131s\u0131 ald\u0131ktan sonra yaln\u0131zca 3 ila 5 y\u0131l ya\u015fayabildi\u011fini belirten Ero\u011flu, bug\u00fcn eri\u015febildi\u011fi tedavinin kendisi i\u00e7in \u00f6nemli bir umut kayna\u011f\u0131 oldu\u011funu vurgulad\u0131.<\/p>\n
“Kendi v\u00fccudunuzun i\u00e7inde hapis gibi”
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ALS\u2019nin kimi insanda v\u00fccudun a\u015fa\u011f\u0131s\u0131ndan, kimi insanda da yukar\u0131dan ba\u015flayabildi\u011fini aktaran Ero\u011flu, “Bizim ailemizde ALS kendini bacaklarda g\u00f6steriyor. D\u0131\u015far\u0131dan bak\u0131nca y\u00fcr\u00fcrken sarho\u015f gibi g\u00f6r\u00fcn\u00fcyordum. Zamanla kar\u0131n ve el kaslar\u0131m zay\u0131flad\u0131; bir \u015fey tutmakta, oturup kalkmakta zorlanmaya ba\u015flad\u0131m. Te\u015fhisi ald\u0131ktan bir s\u00fcre sonra zay\u0131flayan bacak kaslar\u0131m nedeniyle baz\u0131 durumlarda tekerlekli sandalye de kullanmam gerekmeye ba\u015flad\u0131” dedi.
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ALS hastal\u0131\u011f\u0131n\u0131n ilerlemesi durumunda zamanla y\u00fcz ve g\u00f6\u011f\u00fcs kaslar\u0131n\u0131n da zay\u0131flad\u0131\u011f\u0131n\u0131 ve bu durumun \u00e7i\u011fneme, nefes alma gibi hayati \u00f6neme sahip hareketleri yapamayaca\u011f\u0131 bir tabloya neden olabildi\u011fini belirten Ero\u011flu, “Kendi v\u00fccudunuzun i\u00e7inde hapis kalm\u0131\u015f gibi oluyorsunuz. V\u00fccudunuz, bildi\u011finiz v\u00fccut olmaktan \u00e7\u0131k\u0131yor” diye konu\u015ftu.
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Ya\u015fad\u0131\u011f\u0131 zorlu s\u00fcrece ra\u011fmen hayata s\u0131k\u0131 s\u0131k\u0131ya tutunan ve \u015fu an freelance olarak haber edit\u00f6rl\u00fc\u011f\u00fc ve \u00e7evirmenlik yapan Mina Ero\u011flu, zihnini aktif tutman\u0131n kendisine \u00e7ok iyi geldi\u011fini vurgulad\u0131. Ero\u011flu, “Her sabah kalk\u0131p heyecanla kendime kahve yap\u0131yorum. G\u00fcnl\u00fck tutmaya ba\u015flad\u0131m, ku\u015f g\u00f6zlemcili\u011fi yap\u0131yorum. Hayat\u0131mda ilk defa ge\u00e7en her bir mevsimin tad\u0131n\u0131 \u00e7\u0131kar\u0131yorum. \u00d6fkenin bir manas\u0131 kalm\u0131yor, insana bir s\u00fck\u00fbnet ve derinle\u015fme geliyor” dedi.<\/p>\n
Genetik alttiplere y\u00f6nelik tedavi umut oluyor
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Tedavi s\u00fcreci hakk\u0131nda bilgi veren Mina Ero\u011flu, \u015f\u00f6yle konu\u015ftu:
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“Te\u015fhisin ard\u0131ndan yap\u0131lan ileri genetik testlerde, ALS hastalar\u0131n\u0131n k\u00fc\u00e7\u00fck bir k\u0131sm\u0131nda g\u00f6r\u00fclen nadir bir “SOD1 Gen Mutasyonu” ta\u015f\u0131d\u0131\u011f\u0131m tespit edilerek, hedefe y\u00f6nelik g\u00fcncel bir tedavi protokol\u00fc planland\u0131. Bu hastal\u0131kta erken d\u00f6nemde genetik haritan\u0131n \u00e7\u0131kar\u0131lmas\u0131 \u00e7ok kritik. Benim durumuma \u00f6zel olarak planlanan tedaviyle birlikte, hastal\u0131\u011f\u0131n takibinde kullan\u0131lan laboratuvar parametrelerimde olumlu geli\u015fmeler g\u00f6zlemlendi. Kas seyirmelerimde rahatlama oldu. Bu s\u00fcre\u00e7 ciddi bir fark\u0131ndal\u0131k ve hekimle tam bir uyum gerektiriyor.”<\/p>\n
\u2018Tan\u0131 paradoksu\u2019 s\u00fcreci uzat\u0131yor
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Hastal\u0131\u011f\u0131n klinik tablosu ve y\u00fcr\u00fct\u00fclen tedavi yakla\u015f\u0131m\u0131 hakk\u0131nda bilgi veren Medicana International \u0130zmir Hastanesi N\u00f6roloji Uzman\u0131 Do\u00e7. Dr. Hasan Arma\u011fan Uysal, ALS\u2019nin ilk d\u00f6nemlerinde f\u0131t\u0131k veya sinir s\u0131k\u0131\u015fmas\u0131 gibi rahats\u0131zl\u0131klarla \u00e7ok s\u0131k kar\u0131\u015ft\u0131r\u0131ld\u0131\u011f\u0131na dikkat \u00e7ekti. Toplumda s\u0131k g\u00f6r\u00fclen kas se\u011firmelerinin tek ba\u015f\u0131na ALS anlam\u0131na gelmedi\u011finin de alt\u0131n\u0131 \u00e7izen Uysal, “\u00d6nemli olan nokta, se\u011firmelere e\u015flik eden ilerleyici g\u00fc\u00e7 kayb\u0131n\u0131n bulunup bulunmamas\u0131d\u0131r. ALS i\u00e7in bug\u00fcn h\u00e2l\u00e2 kesin tan\u0131 koyduracak tek bir kan testi ya da g\u00f6r\u00fcnt\u00fcleme y\u00f6ntemi yok. Tan\u0131; hastan\u0131n hik\u00e2yesi, n\u00f6rolojik muayenesi, EMG incelemeleri ve di\u011fer olas\u0131l\u0131klar\u0131n d\u0131\u015flanmas\u0131yla konulabiliyor. Bu nedenle d\u00fcnyada tan\u0131 s\u00fcresi ortalama 10 ila 14 ay aras\u0131nda de\u011fi\u015febiliyor. \u0130\u015fte buna ALS\u2019nin \u2019tan\u0131 paradoksu\u2019 deniliyor” dedi.
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Sa\u011fl\u0131k mevzuat\u0131 ve bilimsel s\u0131n\u0131rlar \u00e7er\u00e7evesinde her hastaya uygun tedavi protokollerinin y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcn\u00fc aktaran Do\u00e7. Dr. Uysal, t\u0131p d\u00fcnyas\u0131nda genetik alt gruplara y\u00f6nelik y\u00fcr\u00fct\u00fclen \u00e7al\u0131\u015fmalar\u0131n umut verici oldu\u011funu ancak erken te\u015fhisin ve do\u011fru planlaman\u0131n her hasta i\u00e7in en kritik fakt\u00f6r oldu\u011funu s\u00f6yledi. Uysal, “A\u00e7\u0131klanamayan ve giderek artan g\u00fc\u00e7 kayb\u0131 konusunda hem hastalar\u0131n hem de hekimlerin dikkatli olmas\u0131 gerekir. \u00c7\u00fcnk\u00fc ALS\u2019de bug\u00fcn sahip oldu\u011fumuz en de\u011ferli \u015fey zaman” mesaj\u0131n\u0131 verdi.
<\/p>\n","protected":false},"excerpt":{"rendered":"
\u0130zmir\u2019de ya\u015fayan 47 ya\u015f\u0131ndaki arkeolog Mina Ero\u011flu, Medicana Sa\u011fl\u0131k Grubu N\u00f6roloji B\u00f6l\u00fcm\u00fc\u2019nden Do\u00e7. Dr. Hasan Arma\u011fan Uysal taraf\u0131ndan konulan te\u015fhisle zorlu bir m\u00fccadeleye ba\u015flad\u0131. Kendisine nadir g\u00f6r\u00fclen \u2018SOD1 gen mutasyonu\u2019na y\u00f6nelik g\u00fcncel bir tedavi protokol\u00fc uygulanan Ero\u011flu, genetik haritas\u0131n\u0131n erken \u00e7\u0131kar\u0131lmas\u0131n\u0131n \u00f6nemini vurgulayarak, hayata s\u0131k\u0131 s\u0131k\u0131ya tutundu\u011funu belirtti. Hastal\u0131\u011f\u0131n f\u0131t\u0131k gibi rahats\u0131zl\u0131klarla kar\u0131\u015ft\u0131r\u0131lmas\u0131 nedeniyle d\u00fcnyada…<\/p>\n","protected":false},"author":1,"featured_media":105448,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_crdt_document":"","footnotes":""},"categories":[2],"tags":[],"class_list":["post-105447","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-saglik"],"_links":{"self":[{"href":"https:\/\/www.egemtv.com\/index.php?rest_route=\/wp\/v2\/posts\/105447","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.egemtv.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.egemtv.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.egemtv.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.egemtv.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=105447"}],"version-history":[{"count":1,"href":"https:\/\/www.egemtv.com\/index.php?rest_route=\/wp\/v2\/posts\/105447\/revisions"}],"predecessor-version":[{"id":105449,"href":"https:\/\/www.egemtv.com\/index.php?rest_route=\/wp\/v2\/posts\/105447\/revisions\/105449"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.egemtv.com\/index.php?rest_route=\/wp\/v2\/media\/105448"}],"wp:attachment":[{"href":"https:\/\/www.egemtv.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=105447"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.egemtv.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=105447"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.egemtv.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=105447"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}