{"id":1722,"date":"2018-02-26T21:26:04","date_gmt":"2018-02-27T03:26:04","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1722"},"modified":"2018-02-26T21:26:04","modified_gmt":"2018-02-27T03:26:04","slug":"aleksandra","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pl\/individuals-with-lgmd-interviews\/2018\/02\/26\/aleksandra\/","title":{"rendered":"OSOBA Z LGMD: Aleksandra"},"content":{"rendered":"<p><strong>LGMD \"Spotlight Interview\" - Wywiad z matk\u0105<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2018\/02\/LGMD2D-Aleksandra.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1720 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\/2018\/02\/LGMD2D-Aleksandra-300x169.png\" alt=\"\" width=\"300\" height=\"169\" \/><\/a> Perspektywa<\/strong><\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>Imi\u0119 matki:\u00a0 <\/strong>Aleksandra<\/p>\n<p><strong>Kraj:<\/strong> \u00a0\u00a0Holandia<\/p>\n<p><strong>Podtyp LGMD syna:<\/strong>\u00a0 LGMD2D<!--more--><\/p>\n<p>&nbsp;<\/p>\n<p><strong>W JAKIM WIEKU ZDIAGNOZOWANO TWOJEGO SYNA?<\/strong>:<\/p>\n<p>M\u00f3j syn zosta\u0142 zdiagnozowany tydzie\u0144 przed swoimi 3 urodzinami na podstawie podwy\u017cszonego poziomu CK.  Pocz\u0105tkowo powiedziano nam, \u017ce ma dystrofi\u0119 mi\u0119\u015bniow\u0105 Duchenne'a.  Poprosili\u015bmy jednak o biopsj\u0119 mi\u0119\u015bni i dowiedzieli\u015bmy si\u0119, \u017ce faktycznie ma LGMD2D.<\/p>\n<p><strong>JAKIE BY\u0141Y JEGO PIERWSZE OBJAWY?<\/strong>:<\/p>\n<p>M\u00f3j syn by\u0142 hipotoniczny od urodzenia i mia\u0142 wiele infekcji dr\u00f3g oddechowych. Kiedy zacz\u0105\u0142 raczkowa\u0107, m\u00f3j przyjaciel i chi\u0144ski akupunkturzysta powiedzia\u0142 nam, \u017ce spos\u00f3b, w jaki raczkuje, jest nietypowy i doradzi\u0142 nam sprawdzenie poziomu CK. W wieku 3 lat lekarz stwierdzi\u0142 dystrofi\u0119 mi\u0119\u015bniow\u0105. Byli\u015bmy zdruzgotani, poniewa\u017c jego najstarsza siostra zmar\u0142a z powodu HLHS, a ja by\u0142am w 8 miesi\u0105cu ci\u0105\u017cy z naszym najm\u0142odszym dzieckiem. Min\u0105\u0142 prawie rok, zanim dowiedzieli\u015bmy si\u0119, \u017ce to typ LGMD2D i by\u0142am gotowa zrobi\u0107 wszystko, aby uratowa\u0107 moje dziecko. Zawsze powtarza\u0142am:  Gdybym musia\u0142a jecha\u0107 na drugi koniec \u015bwiata, zrobi\u0142abym to!<\/p>\n<p><strong>CZY MASZ INNYCH CZ\u0141ONK\u00d3W RODZINY, KT\u00d3RZY CHORUJ\u0104 NA LGMD?<\/strong><\/p>\n<p>Nie, u nikogo z naszej rodziny nie zdiagnozowano LGMD2D, ale nasza najm\u0142odsza c\u00f3rka wykazuje podobne objawy, cho\u0107 nie otrzyma\u0142a jeszcze potwierdzonej diagnozy.<\/p>\n<p><strong>CO UWA\u017bASZ ZA NAJWI\u0118KSZE WYZWANIE?<\/strong>:<\/p>\n<p>Wiecz\u00f3r po wieczorze sp\u0119dza\u0142am czas przeszukuj\u0105c internet w poszukiwaniu informacji. Gdy tylko dzieci sz\u0142y spa\u0107, desperacko pr\u00f3bowa\u0142am znale\u017a\u0107 lekarstwo dla mojego syna.  W Holandii zdiagnozowano tylko oko\u0142o 11 dzieci z LGMD2D i wiedzieli\u015bmy, \u017ce w Holandii rzadkie choroby s\u0105 \"zaniedbywane\".   Za\u0142o\u017cyli\u015bmy grup\u0119 rodzic\u00f3w LGMD2D i teraz znam wi\u0119kszo\u015b\u0107 rodzin z LGMD2D w Holandii.  Wszystkie pieni\u0105dze na badania trafiaj\u0105 do du\u017cych grup pacjent\u00f3w.   Wsp\u00f3lnie z naszym lekarzem co roku opracowywali\u015bmy plan 4 \u015bcie\u017cek na czas, kt\u00f3ry dzieli nas od wyleczenia:<\/p>\n<ul>\n<li>Dbanie o jego codzienne samopoczucie w domu i w szkole, poniewa\u017c jest bystry, my\u015bl\u0105c o mo\u017cliwo\u015bciach, a nie ograniczeniach;<\/li>\n<li>Zbudowali\u015bmy dom ze wszystkimi adaptacjami;<\/li>\n<li>Podali\u015bmy mu lek ortomolekularny i prednizon, aby spowolni\u0107 chorob\u0119 i da\u0107 nam troch\u0119 wi\u0119cej czasu.<\/li>\n<li>I wreszcie, co nie mniej wa\u017cne, m\u00f3j syn korzysta\u0142 z cotygodniowych terapii, takich jak eurythmic, muzykoterapia i zaj\u0119cia plastyczne, aby da\u0107 mu narz\u0119dzia do zaakceptowania i stania si\u0119.<\/li>\n<\/ul>\n<p>Jako rodzic naprawd\u0119 wierz\u0119, \u017ce pojawi\u0142o si\u0119 to w naszym \u017cyciu z jakiego\u015b powodu i mamy najbardziej oddanych lekarzy, kt\u00f3rzy nam pomagaj\u0105!  To nasza podr\u00f3\u017c z celem do wyleczenia, to nieko\u0144cz\u0105ca si\u0119 praca 24\/7, ale nie poddamy si\u0119.<\/p>\n<p><strong>JAKIE JEST TWOJE NAJWI\u0118KSZE OSI\u0104GNI\u0118CIE?<\/strong>:<\/p>\n<p>Jako rodzic naprawd\u0119 wierz\u0119, \u017ce pojawi\u0142o si\u0119 to w naszym \u017cyciu z jakiego\u015b powodu i mamy najbardziej oddanych lekarzy, kt\u00f3rzy nam pomagaj\u0105! To nasza podr\u00f3\u017c z celem. Profesora Mendella poznali\u015bmy dziesi\u0119\u0107 lat temu. Byli\u015bmy pod wielkim wra\u017ceniem, poniewa\u017c jego zesp\u00f3\u0142 pracowa\u0142 tak dok\u0142adnie i by\u0142 skoncentrowany na dzieciach. Ch\u0119tnie dowiadywali si\u0119 od mojego syna, jak sobie radzi i co my\u015bli o swojej chorobie. Wr\u00f3cili\u015bmy na kilka lat, maj\u0105c nadziej\u0119, \u017ce pewnego dnia b\u0119dzie m\u00f3g\u0142 do\u0142\u0105czy\u0107 do badania, a w mi\u0119dzyczasie by\u0142 w najlepszych medycznych i oddanych r\u0119kach.<\/p>\n<p><strong>JAK CHOROBA ALZHEIMERA WP\u0141YN\u0118\u0141A NA CIEBIE I TWOJ\u0104 RODZIN\u0118?<\/strong><\/p>\n<p>Naprawd\u0119 chcieli\u015bmy zatrzyma\u0107 post\u0119puj\u0105cy proces rozpadu mi\u0119\u015bni nie tylko dla mojego syna, ale dla wszystkich pacjent\u00f3w. Uczestniczyli\u015bmy w badaniach w latach 2015-2017 i wyniki s\u0105 obiecuj\u0105ce, ka\u017cdego dnia jeste\u015bmy bli\u017cej wyleczenia. Udzia\u0142 w badaniach by\u0142 dla nas wielkim zaszczytem i naprawd\u0119 wierzymy, \u017ce w niedalekiej przysz\u0142o\u015bci uda si\u0119 powstrzyma\u0107 LGMD2D. Jest nadzieja! Zesp\u00f3\u0142 w Nationwide Children's Hospital jest bardzo oddany swojej pracy. Zwiedzili\u015bmy laboratorium i zobaczyli\u015bmy, jak dbaj\u0105 o wszystko, nawet laboratorium jest zbudowane w spos\u00f3b bezpieczny dla ziemi i u\u017cywaj\u0105 filtr\u00f3w HEPA oraz wielu zasad bezpiecze\u0144stwa, aby ceni\u0107 leczenie. Wkr\u00f3tce pojawi\u0105 si\u0119 nowe sposoby leczenia LGMD2D. W mi\u0119dzyczasie nauczyli\u015bmy si\u0119 \u015bwi\u0119towa\u0107 ka\u017cdy kamie\u0144 milowy. \u017ba\u0142uj\u0119, \u017ce nie wiedzia\u0142am o tym, gdy zdiagnozowano moje dziecko! Proces zmieni\u0142 nas na wiele sposob\u00f3w i sprawi\u0142, \u017ce jeste\u015bmy bardzo wdzi\u0119czni i pokorni. Da\u0142 nam r\u00f3wnie\u017c przyjaci\u00f3\u0142 i now\u0105 rodzin\u0119, przysz\u0142o\u015b\u0107 i si\u0142\u0119 do \u017cycia.<\/p>\n<p><strong>CO CHCIA\u0141BY\u015a, ABY \u015aWIAT DOWIEDZIA\u0141 SI\u0118 O LGMD?<\/strong>:<\/p>\n<p>Chc\u0119, aby \u015bwiat dowiedzia\u0142 si\u0119, \u017ce istnieje nadzieja na wyleczenie. Niestety wci\u0105\u017c s\u0105 lekarze, kt\u00f3rzy nie informuj\u0105 lub nie wiedz\u0105 o nowych badaniach.  Rzadkie choroby wymagaj\u0105 najbardziej aktualnych informacji dla pacjenta.  Musimy wsp\u00f3\u0142pracowa\u0107 na ca\u0142ym \u015bwiecie. Zawsze m\u00f3wi\u0142em mojemu synowi, \u017ce wielu lekarzy w Nationwide Children Hospital pracuje nad lekiem i \u017ce ma on przysz\u0142o\u015b\u0107.  Du\u017cym wyzwaniem jest pokonanie przeciwcia\u0142 do ponownego dawkowania i zdobycie pieni\u0119dzy na leczenie dla wszystkich pacjent\u00f3w. Zegar tyka dla wszystkich pacjent\u00f3w! Oni s\u0105 naszymi bohaterami. M\u00f3j syn jest najlepszym wojownikiem.  Mam nadziej\u0119, \u017ce ludzie zainwestuj\u0105 w ten nowy spos\u00f3b leczenia chor\u00f3b nerwowo-mi\u0119\u015bniowych, jeste\u015bmy bli\u017cej wyleczenia ni\u017c kiedykolwiek.<\/p>\n<p><strong>GDYBY JUTRO MO\u017bNA BY\u0141O \"WYLECZY\u0106\" CHOROB\u0118 ALZHEIMERA U TWOJEGO SYNA, CO BY\u0141OBY PIERWSZ\u0104 RZECZ\u0104, KT\u00d3R\u0104 CHCIELIBY\u015aCIE ZROBI\u0106?<\/strong>:<\/p>\n<p>Jako mama b\u0119d\u0119 m\u00f3wi\u0107 lekarzom, \u017ce musz\u0105 wsp\u00f3\u0142pracowa\u0107, aby leczy\u0107 rzadkie choroby na ca\u0142ym \u015bwiecie i \u017ce terapia genowa b\u0119dzie nowym sposobem leczenia.<br \/>\nM\u00f3j syn, my\u015bl\u0119, \u017ce b\u0119dzie biega\u0142 i bra\u0142 udzia\u0142 w zawodach szermierczych. Ostatnio powiedzia\u0142 mi, \u017ce w swoich snach czasami biega.<\/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 https:\/\/www.lgmd-info.org\/spotlight-interviews.<\/p>\n<p>* * * Prosimy o LIKE, COMMENT i SHARE tego postu, aby pom\u00f3c zwi\u0119kszy\u0107 \u015bwiadomo\u015b\u0107 na temat LGMD!<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>LGMD \u201cSpotlight Interview\u201d \u2013 A Mother&#8217;s Perspective \u00a0 Mother\u2019s Name:\u00a0 [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1720,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,28],"tags":[90],"class_list":["post-1722","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2d","tag-lgmd2d-the-netherlands"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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