{"id":7666,"date":"2023-04-02T16:22:56","date_gmt":"2023-04-02T16:22:56","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=7666"},"modified":"2024-02-09T14:23:49","modified_gmt":"2024-02-09T14:23:49","slug":"individual-with-lgmd-jacob","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/tr\/lgmd2d\/2023\/04\/02\/individual-with-lgmd-jacob\/","title":{"rendered":"LGMD'L\u0130 B\u0130REY: Jacob"},"content":{"rendered":"

\"<\/strong><\/p>\n

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

Ya\u015f<\/strong>: 6 ya\u015f\u0131nda<\/p>\n

\u00dclke<\/strong>: Birle\u015fik Devletler<\/p>\n

LGMD Alt Tipi<\/strong>: LGMD2D \/ R3<\/p>\n

* * * Jacob'\u0131n ebeveynleri Josh & Rachel taraf\u0131ndan tamamland\u0131<\/em><\/p>\n

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

Jacob'a 5 ya\u015f\u0131ndayken LGMD2D \/ R3 te\u015fhisi kondu.<\/p>\n

\u00a0<\/strong>\u0130lk belirtileriniz neydi?<\/strong><\/p>\n

Jacob'\u0131n te\u015fhisini 2021 yaz\u0131nda ge\u00e7irdi\u011fi bir rabdomiyoliz vakas\u0131ndan sonra ke\u015ffettik. Bug\u00fcnk\u00fc ana semptomlar\u0131, koyu renkli idrar ve \u00f6nemli \u00f6l\u00e7\u00fcde hidrasyon olmadan \u00e7ok aktif oldu\u011funda bacaklar\u0131n\u0131n a\u011fr\u0131maya ba\u015flamas\u0131 da dahil olmak \u00fczere ara s\u0131ra rabdo benzeri sinyallerdir.<\/p>\n

\u00a0<\/strong>LGMD hastas\u0131 olan ba\u015fka aile \u00fcyeleriniz var m\u0131?<\/strong><\/p>\n

LGMD veya di\u011fer kas distrofisi t\u00fcrlerine sahip ba\u015fka aile \u00fcyemiz 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

\u00c7ok ihtiya\u00e7 duyulan bir tedavi veya iyile\u015ftirme i\u00e7in beklerken Jacob'\u0131n zaman i\u00e7indeki ilerlemesinden s\u00fcrekli endi\u015fe duymak ve bu tedavi veya iyile\u015ftirmenin ne zaman olaca\u011f\u0131n\u0131 bilmemek. Jacob'a her g\u00fcn susuz kalmaman\u0131n ne kadar \u00f6nemli oldu\u011funu s\u00fcrekli hat\u0131rlatmam\u0131z gerekiyor; ilk rabdomiyoliz olay\u0131ndan bu yana g\u00fcnde yakla\u015f\u0131k 48 oz su i\u00e7iyor. Bu, b\u0131rak\u0131n 6 ya\u015f\u0131ndaki bir \u00e7ocu\u011fu, herhangi biri i\u00e7in bile \u00e7ok fazla! Ayr\u0131ca doktorlar\u0131n tavsiyesi ve kaslar\u0131n\u0131 zorlay\u0131p ilerlemesini h\u0131zland\u0131rmas\u0131ndan korktu\u011fumuz i\u00e7in Jacob'\u0131n \u015fu anda tak\u0131m sporlar\u0131nda oynamas\u0131na izin vermiyoruz. T\u00fcm arkada\u015flar\u0131n\u0131n y\u0131l boyunca spor tak\u0131mlar\u0131nda oynad\u0131\u011f\u0131 bir ya\u015fta. Bu ya\u015fta ve b\u00fcy\u00fcd\u00fck\u00e7e akranlar\u0131yla yolda\u015fl\u0131k, sportmenlik ve birliktelik duygusu \u00e7ok \u00f6nemlidir. Ebeveynler olarak \u00e7ocu\u011funuzun bu m\u00fccadelelerle y\u00fczle\u015fmesini izlemek y\u00fcrek par\u00e7alay\u0131c\u0131d\u0131r.<\/p>\n

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

Jacob'\u0131n \u015fu anki en b\u00fcy\u00fck ba\u015far\u0131s\u0131 pes etmemesi. O her zaman elinden gelenin en iyisini yapmaya \u00e7al\u0131\u015fan ve elinden gelenin en iyisini yapan g\u00fc\u00e7l\u00fc, ak\u0131ll\u0131 ve kararl\u0131 bir gen\u00e7. Bunun en g\u00fc\u00e7l\u00fc \u00f6zelliklerinden biri olmas\u0131ndan gurur duyuyor ve kendisini \"vah\u015fi\" olarak tan\u0131mlamay\u0131 seviyor.<\/p>\n

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

LGMD te\u015fhisten bu yana Jacob'\u0131 etkiledi. Dinlenmeye ihtiya\u00e7 duydu\u011funda v\u00fccudunu dinleme konusunda daha dikkatli. \u00d6zellikle beden e\u011fitimi ve teneff\u00fcslerde ihtiya\u00e7 duydu\u011funda \u00f6\u011fretmenlerinden mola istemekten \u00e7ekinmiyor. \u00d6\u011fretmenleri, bu kadar gen\u00e7 ya\u015fta bunu yapmas\u0131ndan ne kadar gurur duyduklar\u0131 ve etkilendikleri konusunda bize yorumlarda bulundular.<\/p>\n

Ebeveynleri olarak bizim i\u00e7in yeni bir d\u00fcrt\u00fc ve ama\u00e7 var: Jacob da dahil olmak \u00fczere t\u00fcm LGMD toplulu\u011funun her hastan\u0131n ihtiya\u00e7 duydu\u011fu ve hak etti\u011fi tedavileri almas\u0131na yard\u0131mc\u0131 olmak. Bu nadir hastal\u0131k hakk\u0131nda fark\u0131ndal\u0131k yaratmaya yard\u0131mc\u0131 olmak i\u00e7in savunucu olduk ve elimizden geldi\u011fince topluma yard\u0131m etmeye kendimizi adad\u0131k.<\/p>\n

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

D\u00fcnyan\u0131n LGMD'nin m\u00fcmk\u00fcn olan en k\u0131sa s\u00fcrede tedaviye ve iyile\u015ftirmeye ihtiya\u00e7 duyan kritik, nadir bir hastal\u0131k oldu\u011funu bilmesini istiyoruz. Bu hastal\u0131k zaman i\u00e7inde daha da k\u00f6t\u00fcle\u015fir, bu nedenle zaman \u00e7ok \u00f6nemlidir. Bu hastal\u0131\u011fa ili\u015fkin fark\u0131ndal\u0131k, bu misyonu ileriye g\u00f6t\u00fcrmenin anahtar\u0131d\u0131r. Ne kadar \u00e7ok insan bu hastal\u0131k ve kritik \u00f6nemi hakk\u0131nda bilgi sahibi olursa, daha fazla ara\u015ft\u0131rma ve klinik deney yap\u0131lmas\u0131na yard\u0131mc\u0131 olacakt\u0131r. Sevdiklerimizin de t\u0131pk\u0131 nadir g\u00f6r\u00fclen ve g\u00f6r\u00fclmeyen hastal\u0131klar\u0131 olan di\u011ferleri gibi tedavi se\u00e7eneklerine ihtiyac\u0131 var.<\/p>\n

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

Jacob yerel bir tak\u0131mda basketbol oynayabilmeyi diliyor. Yar\u0131n iyile\u015fmi\u015f olsayd\u0131, a\u015f\u0131r\u0131 su al\u0131m\u0131, \u00e7ok aktif oldu\u011fu i\u00e7in bacaklar\u0131n\u0131n a\u011fr\u0131mas\u0131 veya ba\u015fka bir rabdomiyoliz vakas\u0131 hakk\u0131nda endi\u015felenmek zorunda kalmadan tak\u0131m sporlar\u0131 yapmak isterdi.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":7668,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,28],"tags":[29,122,16],"class_list":["post-7666","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2d","tag-lgmd2d","tag-lgmdr3","tag-united-states"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Jacob - 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\/lgmd2d\/2023\/04\/02\/individual-with-lgmd-jacob\/\" \/>\n<meta property=\"og:locale\" content=\"tr_TR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Jacob - 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