{"id":1408,"date":"2017-02-10T08:43:25","date_gmt":"2017-02-10T14:43:25","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1408"},"modified":"2017-02-10T08:43:25","modified_gmt":"2017-02-10T14:43:25","slug":"andrea-2","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/tr\/individuals-with-lgmd-interviews\/2017\/02\/10\/andrea-2\/","title":{"rendered":"LGMD'L\u0130 B\u0130REY: Andrea"},"content":{"rendered":"<p>LGMD \"SPOT I\u015eI\u011eI R\u00d6PORTAJI\"<\/p>\n<p><strong>\u0130sim<\/strong>:   Andrea \u00a0<strong>Ya\u015f<\/strong>:  42 ya\u015f\u0131nda<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2017\/02\/Andrea.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1407 alignright\" src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%27http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%27%20width%3D%27300%27%20height%3D%27169%27%20viewBox%3D%270%200%20300%20169%27%3E%3Crect%20width%3D%27300%27%20height%3D%27169%27%20fill-opacity%3D%220%22%2F%3E%3C%2Fsvg%3E\" data-orig-src=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2017\/02\/Andrea-300x169.png\" alt=\"\" width=\"300\" height=\"169\" \/><\/a><\/p>\n<p><strong>\u00dclke<\/strong>:  Birle\u015fik Devletler<\/p>\n<p><strong>LGMD Alt Tipi<\/strong>:  Kolajen 6 Konjenital MD (Bethlem ve Ullrich CMD aras\u0131ndaki spektrumda orta seviye)<\/p>\n<p><strong>A<\/strong><strong>KA\u00c7 YA\u015eINDA TE\u015eHIS KONULDU?<\/strong>:<\/p>\n<p>Bana ilk kez 6 ya\u015f\u0131ndayken Limb Girdle MD te\u015fhisi kondu.  Ulusal Sa\u011fl\u0131k Enstit\u00fcleri'ndeki (NIH) \u00fccretsiz bir tan\u0131 \u00e7al\u0131\u015fmas\u0131ndan do\u011fru Kolajen 6 CMD tan\u0131s\u0131n\u0131 ald\u0131\u011f\u0131mda 40 ya\u015f\u0131ndayd\u0131m.  Hat\u0131rlayabildi\u011fim kadar\u0131yla LGMD hastas\u0131 oldu\u011fumu d\u00fc\u015f\u00fcn\u00fcyordum, ancak genetik tan\u0131 alana kadar tan\u0131n\u0131z tam veya do\u011fru de\u011fildir.  \u00d6nce LGMD te\u015fhisi konmas\u0131 ve daha sonra COL6 CMD'ye sahip oldu\u011funuzun belirlenmesi yayg\u0131nd\u0131r.<\/p>\n<p><strong>W<\/strong><strong>ILK BELIRTILERINIZ NEYDI?<\/strong>:<\/p>\n<p>Bebekken hi\u00e7 emeklemedim; s\u00fcr\u00fcnd\u00fcm.  Yakla\u015f\u0131k 18 ayl\u0131kken ba\u015f\u0131m sa\u011fa do\u011fru e\u011filmeye ba\u015flad\u0131 ve o taraftaki hareket alan\u0131m \u00e7ok k\u0131s\u0131tl\u0131yd\u0131.  Tortikolis te\u015fhisi kondu ve bunun i\u00e7in \u00fc\u00e7 kas gev\u015fetme ameliyat\u0131 ge\u00e7irdim, ilki 22 ayl\u0131kken, sadece boynumun alt\u0131ndaki merkezden kesildi.  \u0130kinci ve \u00fc\u00e7\u00fcnc\u00fc ameliyatlar, 6 ve 12 ya\u015flar\u0131nda, kula\u011f\u0131n arkas\u0131ndaki ve boynun taban\u0131ndaki kas\u0131n kesilmesini i\u00e7eriyordu.  Tortikolis, benim MD formumda yayg\u0131nd\u0131r.<\/p>\n<p>Ergenlik \u00f6ncesi ya\u015flar\u0131mda k\u00f6t\u00fcle\u015fen skolyoz geli\u015ftirdim, i\u00e7e d\u00f6n\u00fck dizlerim vard\u0131 ve bacaklar\u0131m\u0131n d\u00fczle\u015fmesini engelleyen kontrakt\u00fcrler nedeniyle hafif\u00e7e parmak u\u00e7lar\u0131mda y\u00fcr\u00fcd\u00fcm. Kollar\u0131m dirseklerden hafif\u00e7e kas\u0131lm\u0131\u015ft\u0131.  \u00c7ocukken \u00e7ok d\u00fc\u015ft\u00fc\u011f\u00fcm i\u00e7in dizlerim hep sakatt\u0131.  Ayr\u0131ca yerden kalkmakta ve merdiven \u00e7\u0131kmakta zorlan\u0131yordum.<\/p>\n<p><strong>LGMD HASTASI OLAN BA\u015eKA AILE \u00dcYELERINIZ VAR MI?\u00a0\u00a0 <\/strong><\/p>\n<p>Benden yakla\u015f\u0131k alt\u0131 ya\u015f b\u00fcy\u00fck olan ortanca k\u0131z karde\u015fim Cheryl'e 1980 y\u0131l\u0131nda benimle birlikte te\u015fhis konuldu.  \u0130lk te\u015fhisimiz i\u00e7in kas dokusunu ba\u011f\u0131\u015flayan oydu.  Ancak te\u015fhisimiz COL6 CMD olarak revize edilmeden 7 y\u0131ldan fazla bir s\u00fcre \u00f6nce vefat etti.<\/p>\n<p><strong>W<\/strong><strong>LGMD I\u0307LE YA\u015eARKEN KAR\u015eILA\u015eTI\u011eINIZ EN B\u00dcY\u00dcK ZORLUKLARIN NELER OLDU\u011eUNU D\u00dc\u015e\u00dcN\u00dcYORSUNUZ?<\/strong>:<\/p>\n<p>Yorgunluk benim i\u00e7in g\u00fcnl\u00fck bir engel.  \u0130ki seviyeli bir cihaz (Trilogy 100) arac\u0131l\u0131\u011f\u0131yla non-invaziv ventilasyon ve CoughAssist kullan\u0131m\u0131yla solunum kaslar\u0131m\u0131n g\u00fcnl\u00fck olarak gerilmesi, uyku s\u0131ras\u0131nda ve g\u00fcn boyunca daha derin nefesler almam\u0131 sa\u011fl\u0131yor.  Ancak v\u00fccudum art\u0131k t\u00fcm g\u00fcnl\u00fck ya\u015fam aktivitelerini daha yorucu buluyor.  Ortalama bir insan\u0131n hafife ald\u0131\u011f\u0131 temel \u015feyler art\u0131k s\u00fcrekli enerji t\u00fcketen \u015feyler haline gelmeye ba\u015flad\u0131.<\/p>\n<p>\u015eu anda, tam yard\u0131m almadan standart y\u00fckseklikteki bir sandalyeden aya\u011fa kalkmam imkans\u0131z. \u00c7oraplar\u0131m\u0131 ve ayakkab\u0131lar\u0131m\u0131 giymek i\u00e7in verdi\u011fim m\u00fccadele de buna yak\u0131n.  Sadece i\u00e7 mekanlarda y\u00fcr\u00fcyebiliyorum ve bunu da \u00e7ok yava\u015f ve dikkatli bir \u015fekilde, duvar ve mobilyalarla kendimi sabitleyerek yap\u0131yorum.  \u00c7evreme ve bir \u015feyler yapma y\u00f6ntemlerime her zaman uyum sa\u011flad\u0131m, bu nedenle bu zorluklar \u00e7o\u011fu g\u00fcn daha \u00e7ok rahats\u0131zl\u0131k gibi g\u00f6r\u00fcn\u00fcyor. Onlar benim normalim. Ak\u00fcl\u00fc tekerlekli sandalyem evimin d\u0131\u015f\u0131nda ihtiya\u00e7 duydu\u011fum \u015feyleri ger\u00e7ekle\u015ftirmeme yard\u0131mc\u0131 oluyor.<\/p>\n<p><strong>W<\/strong><strong>EN B\u00dcY\u00dcK BA\u015eARINIZ NEDIR?<\/strong>:<\/p>\n<p>En b\u00fcy\u00fck ba\u015far\u0131m iki \u015fey aras\u0131nda e\u015fitlik olurdu.  Bunlardan ilki, k\u0131z karde\u015fimin solunum yetmezli\u011finden \u00f6l\u00fcm\u00fcn\u00fcn yaratt\u0131\u011f\u0131 trajediyi kurdu\u011fum Breathe with MD adl\u0131 organizasyona d\u00f6n\u00fc\u015ft\u00fcrmekti.  Breathe with MD arac\u0131l\u0131\u011f\u0131yla, web sitem arac\u0131l\u0131\u011f\u0131yla solunum kas zay\u0131fl\u0131\u011f\u0131 hakk\u0131nda e\u011fitime yard\u0131mc\u0131 olmak i\u00e7in bilgi payla\u015f\u0131yorum (<a href=\"http:\/\/www.breathewithmd.org\/index.html\">http:\/\/www.breathewithmd.org\/index.html<\/a>), sosyal medya (Facebook.com\/BreathewithMD Twitter: @BreatheMD) ve kapal\u0131 Facebook grubu \"Breathe with MD Support Group\". Breathe with MD, yayg\u0131n m\u00fcdahale ve y\u00f6netim hatalar\u0131n\u0131 \u00f6\u011fretmekte ve kas erimesi hastal\u0131\u011f\u0131yla ya\u015fayanlar\u0131 kendi uygun solunum bak\u0131mlar\u0131n\u0131n savunucular\u0131 olmalar\u0131 i\u00e7in donatmaktad\u0131r.  Buna ba\u011fl\u0131 olarak Bayan Tekerlekli Sandalye Tennessee 2017 tac\u0131n\u0131 takt\u0131.<\/p>\n<p><strong>LGMD BUG\u00dcN OLDU\u011eUNUZ KI\u015eI OLMANIZDA SIZI NASIL ETKILEDI? <\/strong><\/p>\n<p>Hastal\u0131\u011f\u0131m harika bir sorun \u00e7\u00f6z\u00fcc\u00fc olmama yard\u0131mc\u0131 oldu. Ayr\u0131ca hastal\u0131\u011f\u0131n ilerleyici do\u011fas\u0131n\u0131n ve kademeli i\u015flev kayb\u0131n\u0131n, kay\u0131plarla daha iyi ba\u015fa \u00e7\u0131kmama yard\u0131mc\u0131 oldu\u011funu d\u00fc\u015f\u00fcn\u00fcyorum.  Hastal\u0131k k\u00f6t\u00fcle\u015ftik\u00e7e daha fazla fonksiyon kaybediyorum ve her kay\u0131pta yas tutuyorum.  Bu durum hayat\u0131m\u0131 bir perspektife oturtuyor ve k\u00fc\u00e7\u00fck \u015feyleri hastal\u0131\u011f\u0131mla olduk\u00e7a i\u015flevsel oldu\u011fum zamanlardaki kadar \u00f6nemsemiyorum.<\/p>\n<p><strong>W<\/strong><strong>D\u00dcNYANIN LGMD HAKKINDA NE BI\u0307LMESI\u0307NI\u0307 I\u0307STI\u0307YORSUNUZ?<\/strong>:<\/p>\n<p>\u0130nsanlar\u0131n, alt tip yayg\u0131n olarak solunumu etkilemese bile solunum kaslar\u0131n\u0131 etkileyebilece\u011fini anlamalar\u0131n\u0131 istiyorum.  Bu, o ki\u015finin mutlaka destekli ventilasyona girmesi gerekti\u011fi anlam\u0131na gelmez; sadece zay\u0131f ve\/veya etkisiz \u00f6ks\u00fcr\u00fck i\u00e7in mekanik destekli \u00f6ks\u00fcr\u00fc\u011fe (MAC) ihtiya\u00e7 duyabilirler.<\/p>\n<p>Hastal\u0131k kar\u0131n b\u00f6lgesindeki kaslar\u0131 etkileyecek \u015fekilde ilerledi\u011finde, diyafram\u0131 ve kaburgalar aras\u0131ndaki aksesuar kaslar\u0131n\u0131 zay\u0131flatabilir.  Bu da ki\u015finin derin nefes alma kabiliyetinin s\u0131n\u0131rl\u0131 olmas\u0131na neden olur.  Zamanla, bu kronik s\u0131\u011f solunum modeli, soludu\u011fumuz havan\u0131n at\u0131k \u00fcr\u00fcn\u00fc olan Karbondioksitin potansiyel olarak tehlikeli seviyelere \u00e7\u0131kmas\u0131na izin verir.  Bu durum her zaman uyku s\u0131ras\u0131nda ba\u015flar.  Kendinizi zorlaman\u0131za neden olacak bir faaliyette bulunmad\u0131\u011f\u0131n\u0131zda, v\u00fccudunuzun nefes darl\u0131\u011f\u0131 \u00e7ekmesine f\u0131rsat tan\u0131mam\u0131\u015f olursunuz.  Bu, solunum kaslar\u0131 zay\u0131fl\u0131\u011f\u0131n\u0131n bireyde y\u0131llarca gizli kalabilmesinin birincil yoludur.  V\u00fccut bunu telafi eder, ancak ki\u015fi \u00fc\u015f\u00fctt\u00fc\u011f\u00fcnde e\u015fik de\u011ferine ula\u015fabilir ve bu durum h\u0131zla bir solunum yolu enfeksiyonuna ve potansiyel olarak zat\u00fcrreye d\u00f6n\u00fc\u015febilir. Bu noktada, kendilerini acil servise g\u00f6nderen bir solunum krizi geli\u015ftirebilirler.<\/p>\n<p>Kimseyi korkutmak istemem, ancak proaktif olmak hastaneye yat\u0131\u015ftan ve invaziv ventilasyondan ka\u00e7\u0131nman\u0131n kan\u0131tlanm\u0131\u015f yoludur.  Herhangi bir kas erimesi hastal\u0131\u011f\u0131 olan herkesi, temel bir solunum de\u011ferlendirmesi yapt\u0131rmaya ve n\u00f6rom\u00fcsk\u00fcler hastal\u0131\u011f\u0131 olan hastalar\u0131n solunum sorunlar\u0131 konusunda uzmanla\u015fm\u0131\u015f bir t\u0131p uzman\u0131yla d\u00fczenli takip ziyaretleri yapmaya \u00e7a\u011f\u0131r\u0131yorum. Bunu d\u00fc\u015f\u00fcnmek korkutucu olabilir, ancak yolculu\u011funuzun bu b\u00f6l\u00fcm\u00fcnde size destek olmak isteyen y\u00fczlerce ba\u015fka hasta var.  Onlarla Breath with MD Destek Grubu'nda bulu\u015fabilirsiniz.<\/p>\n<p><strong>I<\/strong><strong>LGMD HASTALI\u011eINIZ YARIN \"TEDAVI\u0307\" EDI\u0307LEBI\u0307LECEK OLSA, YAPMAK I\u0307STEYECE\u011eI\u0307NI\u0307Z I\u0307LK \u015eEY NE OLURDU<\/strong>:<\/p>\n<p>Bazen hiper olan Basset k\u00f6pe\u011fim Roscoe ile kovalamaca oynamak ve ard\u0131ndan Sanibel Adas\u0131'ndaki kumsala \u00e7\u0131k\u0131p e\u011filerek deniz kabuklar\u0131 toplamak isterdim.<\/p>\n<p>* * * *<br \/>\nDaha fazla \"LGMD Spotlight R\u00f6portaj\u0131\" okumak veya gelecek bir r\u00f6portajda yer almak i\u00e7in g\u00f6n\u00fcll\u00fc olmak i\u00e7in l\u00fctfen web sitemizi ziyaret edin: <a href=\"https:\/\/www.lgmd-info.org\/tr\/spotlight-interviews\/\" target=\"_blank\" rel=\"nofollow noopener\">https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>LGMD &#8220;SPOTLIGHT INTERVIEW&#8221; Name:\u00a0 \u00a0Andrea \u00a0Age: \u00a042 yrs. old Country: [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1407,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13],"tags":[71],"class_list":["post-1408","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","tag-united-states-col6-cmd"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>INDIVIDUAL WITH LGMD: Andrea - LGMD Awareness Foundation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"http:\/\/www.lgmd-info.org\/tr\/individuals-with-lgmd-interviews\/2017\/02\/10\/andrea-2\/\" \/>\n<meta property=\"og:locale\" content=\"tr_TR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Andrea - LGMD Awareness Foundation\" \/>\n<meta property=\"og:description\" content=\"LGMD &#8220;SPOTLIGHT INTERVIEW&#8221; 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