{"id":1026,"date":"2015-09-30T07:31:34","date_gmt":"2015-09-30T12:31:34","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1026"},"modified":"2015-09-30T07:31:34","modified_gmt":"2015-09-30T12:31:34","slug":"brad","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pl\/individuals-with-lgmd-interviews\/2015\/09\/30\/brad\/","title":{"rendered":"OSOBA Z LGMD: Brad"},"content":{"rendered":"<p>09\/30\/2015:<\/p>\n<p><strong>Nazwa<\/strong>:  Brad\u00a0 <strong>Wiek<\/strong>: 51 lat<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2015\/09\/LGMD2B-Brad.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1027 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\/2015\/09\/LGMD2B-Brad-300x169.png\" alt=\"LGMD2B - Brad\" width=\"300\" height=\"169\" \/><\/a><\/p>\n<p><strong>Kraj<\/strong>: Stany Zjednoczone<\/p>\n<p><strong>Podtyp LGMD<\/strong>: LGMD2B\/Miyoshi Myopathy<\/p>\n<p>&nbsp;<\/p>\n<p><strong>W jakim wieku zosta\u0142e\u015b zdiagnozowany?<\/strong>:<\/p>\n<p>Po raz pierwszy zacz\u0105\u0142em mie\u0107 objawy w wieku 18 lat. Ale dopiero oko\u0142o 10 lat p\u00f3\u017aniej neurolog powiedzia\u0142 mi, \u017ce mam Miyoshi.  Potem musia\u0142em czeka\u0107 kolejne 10 lat na odkrycie genu, zanim pojawi\u0142 si\u0119 spos\u00f3b na potwierdzenie, \u017ce to w\u0142a\u015bnie ja mam t\u0119 chorob\u0119.<\/p>\n<p><strong>Jakie by\u0142y pierwsze objawy?<\/strong>:<\/p>\n<p>Nie mog\u0142em stan\u0105\u0107 na palcach, pocz\u0105tkowo tylko po jednej stronie.<\/p>\n<p><strong>Czy masz innych cz\u0142onk\u00f3w rodziny cierpi\u0105cych na LGMD?<\/strong><\/p>\n<p>Nie<\/p>\n<p><strong>Co uwa\u017casz za najwi\u0119ksze wyzwanie w \u017cyciu z LGMD?<\/strong>:<\/p>\n<p>To, \u017ce planowanie jakiejkolwiek aktywno\u015bci wymaga znacznie wi\u0119cej planowania.  Wiele codziennych czynno\u015bci (podr\u00f3\u017cowanie, robienie zakup\u00f3w, chodzenie do restauracji) obejmuje znacznie wi\u0119cej rzeczy, na kt\u00f3re trzeba zwr\u00f3ci\u0107 uwag\u0119.<\/p>\n<p><strong>Jakie jest twoje najwi\u0119ksze osi\u0105gni\u0119cie?<\/strong>:<\/p>\n<p>W 2000 roku za\u0142o\u017cy\u0142em stron\u0119 internetow\u0105 o dysferlinie (genie dla mojego podtypu LGMD).  Nie wiedzia\u0142em nic o projektowaniu stron internetowych, ale chcia\u0142em, aby inni pacjenci mieli \u017ar\u00f3d\u0142o informacji o chorobie i prowadzonych badaniach.  Dzi\u0119ki temu skontaktowa\u0142a si\u0119 ze mn\u0105 rodzina Jain po tym, jak zdiagnozowano jedno z ich dzieci - za\u0142o\u017cyli oni p\u00f3\u017aniej Fundacj\u0119 Jain, kt\u00f3ra wspiera badania nad moim podtypem.  W 2007 roku Fundacja Jain zorganizowa\u0142a pierwsz\u0105 konferencj\u0119 naukow\u0105 na temat dysferliny.  Przez ca\u0142y czas szczypa\u0142em si\u0119, my\u015bl\u0105c, \u017ce to nie mo\u017ce by\u0107 prawda - faktycznie odby\u0142a si\u0119 konferencja po\u015bwi\u0119cona tej chorobie!<\/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>My\u015bl\u0119, \u017ce dzi\u0119ki temu sta\u0142em si\u0119 bardziej troskliwy i \u015bwiadomy innych.  W m\u0142odo\u015bci zawsze by\u0142em bardzo niezale\u017cny, ale potrzeba pomocy w niekt\u00f3rych sprawach, a tak\u017ce ch\u0119\u0107 wsp\u00f3\u0142pracy z innymi w celu znalezienia lek\u00f3w na LGMD, nauczy\u0142y mnie, jak wa\u017cne jest proszenie o pomoc, gdy jej potrzebujesz, oferowanie pomocy, gdy mo\u017cesz, i wsp\u00f3\u0142praca.<\/p>\n<p><strong>Co chcia\u0142by\u015b, aby \u015bwiat dowiedzia\u0142 si\u0119 o LGMD?<\/strong>:<\/p>\n<p>Po pierwsze, \u017ce istnieje.  My\u015bl\u0119, \u017ce wiele os\u00f3b uwa\u017ca, \u017ce MD dotyka tylko m\u0142odych ch\u0142opc\u00f3w, a przynajmniej dzieci.  Ja te\u017c tak my\u015bla\u0142em, zanim zacz\u0105\u0142em mie\u0107 objawy.  Chc\u0119, aby wiedzieli, \u017ce istnieje wiele r\u00f3\u017cnych rodzaj\u00f3w MD, a objawy mog\u0105 pojawi\u0107 si\u0119 w ka\u017cdym wieku.<\/p>\n<p>Po drugie, my\u015bl\u0119, \u017ce spo\u0142ecze\u0144stwo ma tendencj\u0119 do postrzegania niepe\u0142nosprawno\u015bci jako czarno-bia\u0142ej rzeczy.  Oznacza to, \u017ce albo kto\u015b jest niepe\u0142nosprawny i mo\u017ce potrzebowa\u0107 pomocy, albo jest ca\u0142kowicie zdrowy i nie potrzebuje pomocy.   Ale w przypadku choroby takiej jak LGMD, w kt\u00f3rej objawy cz\u0119sto post\u0119puj\u0105 powoli, kiedy dok\u0142adnie kto\u015b staje si\u0119 niepe\u0142nosprawny?  My\u015bl\u0119, \u017ce spos\u00f3b, w jaki wszystko jest zorganizowane, cz\u0119sto zniech\u0119ca ludzi, kt\u00f3rzy s\u0105 w stanie i chc\u0105 pracowa\u0107, do robienia tego i robienia wszystkiego, co mog\u0105 w swoim \u017cyciu<\/p>\n<p>Chc\u0119, aby inni pacjenci wiedzieli, \u017ce nie s\u0105 sami.  Kiedy by\u0142em w szkole \u015bredniej, bardzo martwi\u0142em si\u0119 o moje MD (kt\u00f3re tak naprawd\u0119 nie zosta\u0142o zdiagnozowane), ale nie czu\u0142em, \u017ce mog\u0119 si\u0119 tym z kim\u015b podzieli\u0107.  Wiele lat p\u00f3\u017aniej pozna\u0142am inn\u0105 pacjentk\u0119, kt\u00f3ra r\u00f3wnie\u017c cierpi na LGMD i kt\u00f3ra studiowa\u0142a na tym samym uniwersytecie w tym samym czasie co ja!  Mimo \u017ce LGMD jest rzadk\u0105 chorob\u0105, istniej\u0105 inni ludzie i dobrze jest nawi\u0105za\u0107 z nimi kontakt.<\/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>Albo poje\u017adzi\u0107 na \u0142y\u017cwach, albo na nartach.  Zanim zacz\u0119\u0142am mie\u0107 objawy, by\u0142am wyczynow\u0105 \u0142y\u017cwiark\u0105 figurow\u0105 i by\u0142oby naprawd\u0119 mi\u0142o m\u00f3c zn\u00f3w to robi\u0107.  Kiedy by\u0142am m\u0142odsza, du\u017co je\u017adzi\u0142am na nartach i uwielbia\u0142am to.<\/p>\n<p>&nbsp;<\/p>\n<p>Aby przeczyta\u0107 wi\u0119cej wywiad\u00f3w \"LGMD Spotlight Interviews\" lub zg\u0142osi\u0107 si\u0119 do udzia\u0142u w nadchodz\u0105cym wywiadzie, odwied\u017a nasz\u0105 stron\u0119 internetow\u0105: <a href=\"https:\/\/www.lgmd-info.org\/pl\/spotlight-interviews\/\">https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>09\/30\/2015: Name:\u00a0 Brad\u00a0 Age: 51 yrs. old Country: United States [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1027,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,22],"tags":[23,55,16],"class_list":["post-1026","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2b","tag-lgmd2b","tag-miyoshi-myopathy","tag-united-states"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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