{"id":7663,"date":"2023-04-22T16:20:29","date_gmt":"2023-04-22T16:20:29","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=7663"},"modified":"2024-02-09T14:23:48","modified_gmt":"2024-02-09T14:23:48","slug":"peter","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/tr\/lgmd2c\/2023\/04\/22\/peter\/","title":{"rendered":"LGMD'L\u0130 B\u0130REY: Peter"},"content":{"rendered":"

\"Lgmd2c<\/p>\n

\u0130sim<\/strong>: Peter<\/p>\n

Ya\u015f<\/strong>: \u00a010<\/p>\n

\u00dclke<\/strong>: ABD<\/p>\n

LGMD Alt Tipi<\/strong>: LGMD 2C\/R5 gama-sarkoglikanopati<\/p>\n

* Peter'\u0131n annesi taraf\u0131ndan tamamland\u0131<\/em><\/p>\n

Ka\u00e7 ya\u015f\u0131nda te\u015fhis konuldu?<\/strong>?<\/p>\n

Annem ve babam giderek k\u00f6t\u00fcle\u015fen kas g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fcn\u00fc fark etmeye ba\u015flad\u0131lar ve bu \u00e7ok endi\u015fe verici bir hal ald\u0131, bu y\u00fczden Peter'\u0131 n\u00f6rom\u00fcsk\u00fcler bir bozukluk olup olmad\u0131\u011f\u0131n\u0131 kontrol etmek i\u00e7in PCP'ye g\u00f6t\u00fcrd\u00fck. Y\u00fcksek bir CK bulduk ve te\u015fhis yolculu\u011fumuza ba\u015flad\u0131k - genetik test LGMD 2C'yi do\u011frulad\u0131.<\/p>\n

\u0130lk BEL\u0130RT\u0130LER\u0130N\u0130Z nelerdi? <\/strong><\/p>\n

6-7 ya\u015flar\u0131ndaki erken semptomlar aras\u0131nda bald\u0131r hipertrofisi, hafif parmak ucunda y\u00fcr\u00fcme ve ya\u015fa uygun sporlarda (yani kale ko\u015fusu, beyzbol topuna vurma vb.) akranlar\u0131na ayak uyduramama yer al\u0131yordu.<\/p>\n

8-9 ya\u015flar\u0131ndaki semptomlar aras\u0131nda yerden kalkmak i\u00e7in bacaklar\u0131 kullanarak y\u00fckselmede zorluk, merdiven \u00e7\u0131kmada zorluk ve s\u0131k s\u0131k d\u00fc\u015fme yer al\u0131yordu.<\/p>\n

LGMD hastas\u0131 olan ba\u015fka aile \u00fcyeleriniz var m\u0131?<\/strong><\/p>\n

7 ya\u015f\u0131ndaki k\u00fc\u00e7\u00fck k\u0131z karde\u015fe daha sonra LGMD 2C tan\u0131s\u0131 kondu. Ebeveynlerinde veya ailesinde herhangi bir distrofi \u00f6yk\u00fcs\u00fc yok.<\/p>\n

LGMD ile ya\u015faman\u0131n en b\u00fcy\u00fck zorluklar\u0131n\u0131n ne oldu\u011funu d\u00fc\u015f\u00fcn\u00fcyorsunuz?<\/strong>?<\/p>\n

Peter okul g\u00fcn\u00fcn\u00fc ge\u00e7irirken biraz yorgunluk g\u00f6stermeye ba\u015flad\u0131, s\u0131k s\u0131k mola vermeyi, derslere girmek i\u00e7in fazladan zaman ay\u0131rmay\u0131 ve derslerde baz\u0131 kolayl\u0131klar sa\u011flamay\u0131 gerektiriyor. Merdiven \u00e7\u0131kma ve uzak mesafeleri y\u00fcr\u00fcme zorlu\u011fu neredeyse her g\u00fcn bir sorun te\u015fkil ediyor.<\/p>\n

En b\u00fcy\u00fck ba\u015far\u0131n\u0131z nedir?<\/strong><\/p>\n

Spor tak\u0131mlar\u0131ndan d\u0131\u015flanmas\u0131na ve zaman zaman ya\u015f\u0131tlar\u0131na ayak uyduramamas\u0131na ra\u011fmen Peter ilkokul boyunca harika arkada\u015fl\u0131klar kurdu. Belirtiler g\u00f6stermeye ba\u015flad\u0131\u011f\u0131nda, arkada\u015flar\u0131 onu desteklemek ve ona yard\u0131m etmek i\u00e7in etraf\u0131nda topland\u0131. Geni\u015f arkada\u015f grubu onun nazik, cana yak\u0131n ki\u015fili\u011finin do\u011frudan bir sonucudur, asl\u0131nda arkada\u015flar\u0131n\u0131n \u00e7o\u011fu Peter'\u0131n \"en iyi arkada\u015flar\u0131\" oldu\u011funu iddia etmektedir.<\/p>\n

LGMD bug\u00fcn oldu\u011funuz ki\u015fi olman\u0131zda sizi nas\u0131l etkiledi?<\/strong><\/p>\n

Peter hala LGMD hakk\u0131nda bir \u015feyler \u00f6\u011freniyor. N\u00f6rom\u00fcsk\u00fcler hastal\u0131\u011f\u0131n\u0131 ya\u015f\u0131na uygun bir dille tart\u0131\u015f\u0131rken, 10 ya\u015f\u0131ndaki bir \u00e7ocu\u011fun her \u015feyi \"google \"lama becerisine kar\u015f\u0131 dikkatli olduk. Fizik tedavinin, esnemenin ve yoruldu\u011funda dinlenmenin \u00f6nemini tart\u0131\u015f\u0131yoruz. Peter son birka\u00e7 y\u0131ld\u0131r \u015fikayet etmeden ya da pes etmeden, bildi\u011fimizden \u00e7ok daha fazla \u00e7al\u0131\u015farak ayak uydurmaya \u00e7al\u0131\u015f\u0131yordu. Peter u\u00e7aklar\u0131n, u\u00e7ak gemilerinin, deniz ara\u00e7lar\u0131n\u0131n vb. m\u00fchendisli\u011fi ve mimarisiyle ilgileniyor. U\u00e7ak gemileri ve destroyerler gibi deniz ara\u00e7lar\u0131 tasarlama ve in\u015fa etme hayalleri var.<\/p>\n

D\u00fcnyan\u0131n LGMD hakk\u0131nda ne bilmesini istersiniz?<\/strong>?<\/p>\n

Biz aile olarak LGMD, \u00f6zellikle de sarkoglikanlar hakk\u0131nda fark\u0131ndal\u0131k yaratmak istiyoruz. Bu kal\u0131tsal, nadir, genetik hastal\u0131klar herhangi bir uyar\u0131 veya aile \u00f6yk\u00fcs\u00fc olmadan ortaya \u00e7\u0131kabilir. LGMD i\u00e7in yap\u0131lan ara\u015ft\u0131rmalar ve potansiyel tedavi se\u00e7enekleri s\u0131n\u0131rl\u0131d\u0131r. LGMD ile ilgili yayg\u0131n bir yanl\u0131\u015f kan\u0131, ya\u015fam\u0131n ilerleyen d\u00f6nemlerinde ortaya \u00e7\u0131kabilece\u011fi ve \"yava\u015f ilerleme\" g\u00f6sterebilece\u011fidir - ancak sarkoglikanlar genellikle \u00e7ocuklar\u0131 etkiler ve h\u0131zl\u0131 bir hastal\u0131k ilerlemesine sahip olabilir.<\/p>\n

LGMD hastal\u0131\u011f\u0131n\u0131z yar\u0131n \"tedavi edilebilseydi\", yapmak isteyece\u011finiz ilk \u015fey ne olurdu?<\/strong>?<\/p>\n

Peter kesinlikle arkada\u015flar\u0131yla beyzbol oynamak, karde\u015fiyle ko\u015fturmak ve babas\u0131yla dev bir orkinosu nas\u0131l yakalayaca\u011f\u0131n\u0131 \u00f6\u011frenmek istiyor!<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":7664,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,75],"tags":[],"class_list":["post-7663","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2c"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Peter - 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=\"https:\/\/www.lgmd-info.org\/tr\/lgmd2c\/2023\/04\/22\/peter\/\" \/>\n<meta property=\"og:locale\" content=\"tr_TR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Peter - 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