{"id":1463,"date":"2017-06-07T10:06:12","date_gmt":"2017-06-07T15:06:12","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1463"},"modified":"2017-06-07T10:06:12","modified_gmt":"2017-06-07T15:06:12","slug":"jill","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pl\/individuals-with-lgmd-interviews\/2017\/06\/07\/jill\/","title":{"rendered":"OSOBA Z LGMD: Jill"},"content":{"rendered":"

LGMD \"Wywiad w centrum uwagi\"<\/strong><\/p>\n

NAZWA:<\/strong> Jill WIEK: 42\"\"<\/a>
\nKRAJ<\/strong>: USA
\nPodtyp LGMD<\/strong>autosomalna dominuj\u0105ca dystrofia mi\u0119\u015bniowa Emery'ego-Dreifussa (mutacja LMNA\/LGMD1B)<\/p>\n

W JAKIM WIEKU ZOSTA\u0141E\u015a ZDIAGNOZOWANY?<\/strong>:
\nZdiagnozowano mnie, gdy mia\u0142em 4 lata.<\/p>\n

JAKIE BY\u0141Y PIERWSZE OBJAWY:<\/strong>
\nPo urodzeniu by\u0142em drobny, a moje ciotki wspominaj\u0105, \u017ce nie mia\u0142em wystarczaj\u0105cej ilo\u015bci t\u0142uszczu i mi\u0119\u015bni na pupie i nogach. Moje wczesne kamienie milowe nie by\u0142y niczym niezwyk\u0142ym; by\u0142em w stanie siedzie\u0107, raczkowa\u0107, chodzi\u0107 itp. w odpowiednim wieku. Kiedy zacz\u0105\u0142em chodzi\u0107 do przedszkola, zauwa\u017cono, \u017ce upada\u0142em znacznie cz\u0119\u015bciej ni\u017c inne dzieci i mia\u0142em trudno\u015bci z nad\u0105\u017caniem za innymi. Pami\u0119tam, \u017ce mia\u0142em du\u017ce trudno\u015bci z utrzymaniem pozycji pionowej w \"dmuchanym domu\" w weso\u0142ym miasteczku, a tak\u017ce nie lubi\u0142em samochodzik\u00f3w, poniewa\u017c mia\u0142em trudno\u015bci z os\u0142abieniem szyi.<\/p>\n

CZY MASZ INNYCH CZ\u0141ONK\u00d3W RODZINY, KT\u00d3RZY CHORUJ\u0104 NA LGMD?<\/strong>
\nM\u00f3j ojciec, dw\u00f3ch braci i jedna siostra maj\u0105 EDMD, ale o r\u00f3\u017cnym nasileniu. Jedna siostra nie cierpi na t\u0119 chorob\u0119. Podejrzewa si\u0119, \u017ce moja babcia i prababcia ze strony ojca r\u00f3wnie\u017c odziedziczy\u0142y to zaburzenie, ale by\u0142o ono tak \u0142agodne, \u017ce nigdy o tym nie wiedzia\u0142y.<\/p>\n

CO JEST DLA CIEBIE NAJWI\u0118KSZYM WYZWANIEM W \u017bYCIU Z LGMD?<\/strong>
\nFrustruj\u0119 si\u0119, poniewa\u017c chc\u0119 robi\u0107 rzeczy, kt\u00f3re kto\u015b w moim wieku powinien by\u0107 w stanie wykona\u0107 bez wi\u0119kszych trudno\u015bci. Na przyk\u0142ad, nad\u0105\u017canie za pracami domowymi jest bardzo trudne, a po ci\u0119\u017ckiej pracy dom nie wygl\u0105da tak, jak sobie wyobra\u017cam.<\/p>\n

JAKIE JEST TWOJE NAJWI\u0118KSZE OSI\u0104GNI\u0118CIE?<\/strong>
\nMoim najwi\u0119kszym osi\u0105gni\u0119ciem by\u0142o odkrycie mojej w\u0142asnej diagnozy jako nastolatka i poinformowanie kardiologa mojego ojca, \u017ce nasza choroba genetyczna wymaga wszczepienia rozrusznika serca. By\u0107 mo\u017ce uratowa\u0142o mu to \u017cycie, gdy mia\u0142 zaledwie 44 lata. Da\u0142o nam to szans\u0119 kocha\u0107 go przez kolejne 18 lat.<\/p>\n

JAK CHOROBA ALZHEIMERA WP\u0141YN\u0118\u0141A NA TO, \u017bE STA\u0141E\u015a SI\u0118 OSOB\u0104, KT\u00d3R\u0104 JESTE\u015a DZISIAJ:<\/strong>
\nDzi\u0119ki temu nauczy\u0142em si\u0119 polega\u0107 na sobie, zamiast oczekiwa\u0107, \u017ce inni rozwi\u0105\u017c\u0105 moje problemy. Do\u015b\u0107 wcze\u015bnie nauczy\u0142em si\u0119, \u017ce je\u015bli masz bardzo rzadk\u0105 chorob\u0119, musisz sta\u0107 si\u0119 swoim w\u0142asnym adwokatem. Choroba mi\u0119\u015bni sprawi\u0142a r\u00f3wnie\u017c, \u017ce bardzo po\u015bwi\u0119ci\u0142em si\u0119 nauce. Studiowa\u0142em genetyk\u0119 na studiach licencjackich i kreatywne pisanie na studiach magisterskich. Bez moich osi\u0105gni\u0119\u0107 w szkolnictwie wy\u017cszym m\u00f3g\u0142bym mie\u0107 trudno\u015bci z odkryciem mojego celu w \u017cyciu.<\/p>\n

CO \u015aWIAT POWINIEN WIEDZIE\u0106 O LGMD?<\/strong>
\nJe\u015bli chodzi o to, co chcia\u0142bym, aby ludzie wiedzieli o Emery-Dreifuss MD (EDMD), prawdopodobnie chcia\u0142bym, aby ludzie wiedzieli, \u017ce w \u015brodku jestem taki sam jak ka\u017cda inna osoba. Czuj\u0119 te same b\u00f3le, mam te same marzenia, a przede wszystkim chc\u0119 by\u0107 w\u0142\u0105czony we wszystko, czego mo\u017cna do\u015bwiadczy\u0107 w \u017cyciu. Jestem szcz\u0119\u015bliwym m\u0119\u017cem od prawie 12 lat i wychowa\u0142em syna w wieku 11 lat, a przede wszystkim chcia\u0142bym, aby ludzie zrozumieli, \u017ce te cele \u017cyciowe mog\u0105 zosta\u0107 osi\u0105gni\u0119te przez osob\u0119, nawet je\u015bli nie jest w stanie chodzi\u0107.<\/p>\n

GDYBY JUTRO MO\u017bNA BY\u0141O \"WYLECZY\u0106\" CHOROB\u0118 ALZHEIMERA, CO BY\u0141OBY PIERWSZ\u0104 RZECZ\u0104, KT\u00d3R\u0104 CHCIA\u0141BY\u015a ZROBI\u0106:<\/strong>
\nChcia\u0142abym opowiedzie\u0107 si\u0119 za w\u0142\u0105czeniem EDMD do bada\u0144 genetycznych oferowanych noworodkom. Moim najwi\u0119kszym \u017cyczeniem jest, aby przysz\u0142e pokolenie nie przechodzi\u0142o przez trudno\u015bci, przez kt\u00f3re ja przeszed\u0142em, a najlepszym czasem na interwencj\u0119 jest moment narodzin.<\/p>\n

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: https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>\n

<\/div>","protected":false},"excerpt":{"rendered":"

LGMD “Spotlight Interview” NAME: Jill AGE: 42 COUNTRY: USA LGMD […]<\/p>","protected":false},"author":1,"featured_media":1462,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,44],"tags":[74,43,16],"class_list":["post-1463","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd1b","tag-emery-dreifuss","tag-lgmd1b","tag-united-states"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Jill - 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\/individuals-with-lgmd-interviews\/2017\/06\/07\/jill\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Jill - 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