{"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\/pl\/lgmd2d\/2023\/04\/02\/individual-with-lgmd-jacob\/","title":{"rendered":"OSOBA Z LGMD: Jacob"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\"><p><strong> <img decoding=\"async\" class=\"lazyload aligncenter size-medium wp-image-6107\" 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\/2023\/04\/LGMD2D-Jacob-D-300x169.png\" alt=\" \" width=\"300\" height=\"169\" \/><\/strong><\/p>\n<p><strong>Nazwa<\/strong>:  Jacob<\/p>\n<p><strong>Wiek<\/strong>6 lat<\/p>\n<p><strong>Kraj<\/strong>:  Stany Zjednoczone<\/p>\n<p><strong>Podtyp LGMD<\/strong>:  LGMD2D \/ R3<\/p>\n<p>* * * <em>Uko\u0144czone przez rodzic\u00f3w Jacoba, Josha i Rachel<\/em><\/p>\n<p><strong>W jakim wieku zosta\u0142e\u015b zdiagnozowany?<\/strong>?<\/p>\n<p>U Jacoba zdiagnozowano LGMD2D \/ R3, gdy mia\u0142 5 lat.<\/p>\n<p><strong>\u00a0<\/strong><strong>Jakie by\u0142y pierwsze objawy?<\/strong><\/p>\n<p>Diagnoz\u0119 Jacoba odkryli\u015bmy po przypadku rabdomiolizy latem 2021 roku. Obecnie jego g\u0142\u00f3wnymi objawami s\u0105 sporadyczne sygna\u0142y przypominaj\u0105ce rabdomioliz\u0119, w tym ciemny mocz i nogi, kt\u00f3re zaczynaj\u0105 bole\u0107, gdy jest zbyt aktywny bez znacznego nawodnienia.<\/p>\n<p><strong>\u00a0<\/strong><strong>Czy masz innych cz\u0142onk\u00f3w rodziny cierpi\u0105cych na LGMD?<\/strong><\/p>\n<p>Nie mamy innych cz\u0142onk\u00f3w rodziny cierpi\u0105cych na LGMD lub inne formy dystrofii mi\u0119\u015bniowej.<\/p>\n<p><strong>Co uwa\u017casz za najwi\u0119ksze wyzwanie w \u017cyciu z LGMD?<\/strong>?<\/p>\n<p>Ci\u0105g\u0142e martwienie si\u0119 o post\u0119py Jacoba w czasie, gdy czekamy na bardzo potrzebne leczenie lub lekarstwo i nie wiemy, kiedy to leczenie lub lekarstwo nast\u0105pi. Musimy nieustannie przypomina\u0107 Jacobowi, jak wa\u017cne jest codzienne nawodnienie; od pocz\u0105tkowego incydentu rabdomiolizy wypija oko\u0142o 48 uncji wody dziennie. To du\u017co dla ka\u017cdego, a co dopiero dla 6-latka! Obecnie nie pozwalamy Jacobowi na uprawianie sport\u00f3w zespo\u0142owych ze wzgl\u0119du na zalecenia lekarzy i obawy przed nadwyr\u0119\u017ceniem mi\u0119\u015bni i przyspieszeniem post\u0119pu choroby. Jest w wieku, w kt\u00f3rym wszyscy jego przyjaciele graj\u0105 w dru\u017cynach sportowych przez ca\u0142y rok. Poczucie kole\u017ce\u0144stwa, sportowej rywalizacji i wsp\u00f3lnoty z r\u00f3wie\u015bnikami ma kluczowe znaczenie w tym wieku i w miar\u0119 jego rozwoju. Rodzicom ci\u0119\u017cko jest patrze\u0107, jak ich dziecko zmaga si\u0119 z tymi trudno\u015bciami.<\/p>\n<p><strong>Jakie jest twoje najwi\u0119ksze osi\u0105gni\u0119cie?<\/strong><\/p>\n<p>Obecnie najwi\u0119kszym osi\u0105gni\u0119ciem Jacoba jest to, \u017ce si\u0119 nie poddaje. Jest silnym, inteligentnym i zdeterminowanym m\u0142odym ch\u0142opcem, kt\u00f3ry zawsze stara si\u0119 jak najlepiej i pracuje najci\u0119\u017cej. Jest dumny z tego, \u017ce jest to jedna z jego najsilniejszych cech i lubi opisywa\u0107 siebie jako \"zaciek\u0142ego\".<\/p>\n<p><strong>Jak LGMD wp\u0142yn\u0119\u0142o na to, \u017ce sta\u0142e\u015b si\u0119 osob\u0105, kt\u00f3r\u0105 jeste\u015b dzisiaj?<\/strong><\/p>\n<p>Choroba LGMD wp\u0142yn\u0119\u0142a na Jacoba od momentu postawienia diagnozy. Jest bardziej \u015bwiadomy tego, \u017ce s\u0142ucha swojego cia\u0142a, gdy potrzebuje ono odpoczynku. Nie boi si\u0119 prosi\u0107 nauczycieli o przerw\u0119, je\u015bli jej potrzebuje, zw\u0142aszcza podczas zaj\u0119\u0107 wychowania fizycznego i przerw. Jego nauczyciele komentowali nam, jak bardzo s\u0105 dumni i pod wra\u017ceniem, \u017ce robi to w tak m\u0142odym wieku.<\/p>\n<p>Dla nas, jako jego rodzic\u00f3w, mamy now\u0105 motywacj\u0119 i cel: pom\u00f3c ca\u0142ej spo\u0142eczno\u015bci LGMD, w tym Jacobowi, uzyska\u0107 leczenie, kt\u00f3rego ka\u017cdy pacjent potrzebuje i na kt\u00f3re zas\u0142uguje. Stali\u015bmy si\u0119 or\u0119downikami, aby pom\u00f3c w podnoszeniu \u015bwiadomo\u015bci na temat tej rzadkiej choroby i jeste\u015bmy oddani pomaganiu spo\u0142eczno\u015bci, jak tylko mo\u017cemy.<\/p>\n<p><strong>Co chcia\u0142by\u015b, aby \u015bwiat dowiedzia\u0142 si\u0119 o LGMD?<\/strong>?<\/p>\n<p>Chcemy, aby \u015bwiat dowiedzia\u0142 si\u0119, \u017ce LGMD jest krytyczn\u0105, rzadk\u0105 chorob\u0105, kt\u00f3ra rozpaczliwie potrzebuje jak najszybszego leczenia i lekarstwa. Choroba ta pogarsza si\u0119 z czasem, wi\u0119c czas jest najwa\u017cniejszy. \u015awiadomo\u015b\u0107 tej choroby jest kluczem do realizacji tej misji. Im wi\u0119cej os\u00f3b dowie si\u0119 o tej chorobie i jej krytycznym znaczeniu, tym wi\u0119cej bada\u0144 i pr\u00f3b klinicznych zostanie przeprowadzonych. Nasi bliscy potrzebuj\u0105 opcji leczenia, tak jak inni cierpi\u0105cy na rzadkie i nierzadkie choroby.<\/p>\n<p><strong>Gdyby jutro mo\u017cna by\u0142o \"wyleczy\u0107\" chorob\u0119 LGMD, co by\u0142oby pierwsz\u0105 rzecz\u0105, kt\u00f3r\u0105 chcia\u0142by\u015b zrobi\u0107?<\/strong>?<\/p>\n<p>Jacob chcia\u0142by gra\u0107 w koszyk\u00f3wk\u0119 w lokalnej dru\u017cynie. Gdyby jutro zosta\u0142 wyleczony, chcia\u0142by uprawia\u0107 sporty zespo\u0142owe bez martwienia si\u0119 o nadmierne spo\u017cycie wody, b\u00f3l n\u00f3g spowodowany zbyt du\u017c\u0105 aktywno\u015bci\u0105 lub kolejny przypadek rabdomiolizy.<\/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":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>INDIVIDUAL 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\/pl\/lgmd2d\/2023\/04\/02\/individual-with-lgmd-jacob\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Jacob - 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