{"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\/pl\/lgmd2c\/2023\/04\/22\/peter\/","title":{"rendered":"OSOBA Z LGMD: Peter"},"content":{"rendered":"

\"Lgmd2c<\/p>\n

Nazwa<\/strong>: Piotr<\/p>\n

Wiek<\/strong>: \u00a010<\/p>\n

Kraj<\/strong>: USA<\/p>\n

Podtyp LGMD<\/strong>: LGMD 2C\/R5 gamma-sarkoglikanopatia<\/p>\n

* Uko\u0144czone przez matk\u0119 Petera<\/em><\/p>\n

W jakim wieku zosta\u0142e\u015b zdiagnozowany?<\/strong>?<\/p>\n

Zosta\u0142em zdiagnozowany w wieku 9 lat. Mama i tata zacz\u0119li zauwa\u017ca\u0107 pogarszaj\u0105ce si\u0119 os\u0142abienie mi\u0119\u015bni, kt\u00f3re sta\u0142o si\u0119 bardzo niepokoj\u0105ce, wi\u0119c zabrali\u015bmy Petera do PCP na badania laboratoryjne w celu sprawdzenia zaburze\u0144 nerwowo-mi\u0119\u015bniowych. Stwierdzili\u015bmy podwy\u017cszone CK i rozpocz\u0119li\u015bmy nasz\u0105 podr\u00f3\u017c diagnostyczn\u0105 - testy genetyczne potwierdzi\u0142y LGMD 2C.<\/p>\n

Jakie by\u0142y Twoje pierwsze SYMPTOMY? <\/strong><\/p>\n

Wczesne objawy w wieku 6-7 lat obejmowa\u0142y przerost \u0142ydek, lekkie chodzenie na palcach i niezdolno\u015b\u0107 do nad\u0105\u017cania za r\u00f3wie\u015bnikami w sportach odpowiednich dla wieku (tj. bieganie po bazach, uderzanie pi\u0142ek baseballowych itp.).<\/p>\n

Objawy w wieku 8-9 lat obejmowa\u0142y trudno\u015bci z podnoszeniem si\u0119 z pod\u0142ogi za pomoc\u0105 n\u00f3g, trudno\u015bci ze schodami i cz\u0119ste upadki.<\/p>\n

Czy masz innych cz\u0142onk\u00f3w rodziny cierpi\u0105cych na LGMD?<\/strong><\/p>\n

M\u0142odsza siostra, lat 7, u kt\u00f3rej p\u00f3\u017aniej zdiagnozowano LGMD 2C. Brak wywiadu rodzinnego w kierunku jakiejkolwiek dystrofii.<\/p>\n

Co uwa\u017casz za najwi\u0119ksze wyzwanie w \u017cyciu z LGMD?<\/strong>?<\/p>\n

Peter zacz\u0105\u0142 wykazywa\u0107 pewne zm\u0119czenie w ci\u0105gu dnia szkolnego, wymagaj\u0105c cz\u0119stych przerw, dodatkowego czasu na dotarcie na zaj\u0119cia i pewnych udogodnie\u0144 w klasach. Trudno\u015bci z wchodzeniem po schodach i pokonywaniem du\u017cych odleg\u0142o\u015bci stanowi\u0105 wyzwanie niemal ka\u017cdego dnia.<\/p>\n

Jakie jest twoje najwi\u0119ksze osi\u0105gni\u0119cie?<\/strong><\/p>\n

Pomimo opuszczenia dru\u017cyn sportowych i niezdolno\u015bci do nad\u0105\u017cania za r\u00f3wie\u015bnikami, Peter nawi\u0105za\u0142 wspania\u0142e przyja\u017anie w szkole podstawowej. Kiedy zacz\u0105\u0142 wykazywa\u0107 objawy, jego przyjaciele zebrali si\u0119 wok\u00f3\u0142 niego, aby go wspiera\u0107 i mu pomaga\u0107. Jego ogromna grupa przyjaci\u00f3\u0142 jest bezpo\u015brednim wynikiem jego mi\u0142ej, uprzejmej osobowo\u015bci, w rzeczywisto\u015bci wi\u0119kszo\u015b\u0107 jego przyjaci\u00f3\u0142 twierdzi, \u017ce Peter jest ich \"najlepszym przyjacielem\".<\/p>\n

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

Peter wci\u0105\u017c uczy si\u0119 o LGMD. Om\u00f3wili\u015bmy jego chorob\u0119 nerwowo-mi\u0119\u015bniow\u0105 j\u0119zykiem dostosowanym do wieku, zachowuj\u0105c ostro\u017cno\u015b\u0107 wobec zdolno\u015bci 10-latka do \"googlowania\" czegokolwiek. Omawiamy znaczenie fizykoterapii, rozci\u0105gania i odpoczynku, gdy jest zm\u0119czony. Przez ostatnie kilka lat Peter stara\u0142 si\u0119 nad\u0105\u017cy\u0107, nie narzekaj\u0105c ani nie rezygnuj\u0105c, podczas gdy pracowa\u0142 znacznie ci\u0119\u017cej, ni\u017c nam si\u0119 wydawa\u0142o. Peter interesuje si\u0119 in\u017cynieri\u0105 i architektur\u0105 samolot\u00f3w, lotniskowc\u00f3w, okr\u0119t\u00f3w wojennych itp. Marzy o projektowaniu i budowaniu okr\u0119t\u00f3w wojennych, takich jak lotniskowce i niszczyciele.<\/p>\n

Co chcia\u0142by\u015b, aby \u015bwiat dowiedzia\u0142 si\u0119 o LGMD?<\/strong>?<\/p>\n

Jako rodzina chcieliby\u015bmy szerzy\u0107 \u015bwiadomo\u015b\u0107 na temat LGMD, a konkretnie sarkoglikan\u00f3w. Te dziedziczne, rzadkie choroby genetyczne mog\u0105 wyst\u0105pi\u0107 bez \u017cadnego ostrze\u017cenia lub historii rodzinnej. Badania nad LGMD s\u0105 ograniczone, podobnie jak potencjalne opcje leczenia. Powszechnym b\u0142\u0119dnym przekonaniem na temat LGMD jest to, \u017ce mo\u017ce wyst\u0105pi\u0107 w p\u00f3\u017aniejszym okresie \u017cycia i mie\u0107 \"powolny post\u0119p\" - jednak sarkoidoza cz\u0119sto dotyka dzieci i mo\u017ce mie\u0107 szybki post\u0119p choroby.<\/p>\n

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

Peter zdecydowanie chcia\u0142by gra\u0107 w baseball ze swoimi przyjaci\u00f3\u0142mi, biega\u0107 z bratem i nauczy\u0107 si\u0119 \u0142owi\u0107 gigantycznego tu\u0144czyka z tat\u0105!<\/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\/pl\/lgmd2c\/2023\/04\/22\/peter\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Peter - 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