{"id":1569,"date":"2017-09-17T07:13:02","date_gmt":"2017-09-17T12:13:02","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1569"},"modified":"2017-09-17T07:13:02","modified_gmt":"2017-09-17T12:13:02","slug":"monkol","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pl\/individuals-with-lgmd-interviews\/2017\/09\/17\/monkol\/","title":{"rendered":"INDIVIDUAL WITH LGMD:  Monkol"},"content":{"rendered":"<p><strong>LGMD \"WYWIAD W \u015aWIETLE REFLEKTOR\u00d3W\"<\/strong><\/p>\n<p><strong>Nazwa<\/strong>:\u00a0 Monkol\u00a0 <strong>WIEK<\/strong>: 38<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2017\/09\/LGMD2G-Monkol.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1568 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\/2017\/09\/LGMD2G-Monkol-300x169.png\" alt=\"\" width=\"300\" height=\"169\" \/><\/a><\/p>\n<p><strong>Kraj<\/strong>: Stany Zjednoczone<\/p>\n<p><strong>Podtyp LGMD<\/strong>: LGMD2G (also known as Telethoninopathy)<!--more--><\/p>\n<p>&nbsp;<\/p>\n<p><strong>W jakim wieku zosta\u0142e\u015b zdiagnozowany?<\/strong>:<\/p>\n<p>I received an official genetic diagnosis at 33, where they identified frameshift mutation in TCAP. I have since created the LGMD2G Foundation to find more LGMD2G patients and help them on their journey.<\/p>\n<p><a href=\"http:\/\/www.lgmd2g.org\/\">http:\/\/www.lgmd2g.org\/<\/a><\/p>\n<p><strong>Jakie by\u0142y pierwsze objawy?<\/strong>:<\/p>\n<p>I started really taking notice when I was 19. I was having a difficult time standing up for long periods on public transport and going up stairs. I would be really sore and exhausted at the end of a long day of traveling to University, which took nearly 3 hours total each day.<\/p>\n<p><strong>Czy masz innych cz\u0142onk\u00f3w rodziny cierpi\u0105cych na LGMD?<\/strong><\/p>\n<p>Yes, my second oldest sister. There are 7 siblings in our family, the two affected is roughly the 25% expected to be affected by a recessive disease. Guess my sister and I got a shitty roll of the dice!<\/p>\n<p><strong>Co uwa\u017casz za najwi\u0119ksze wyzwanie w \u017cyciu z LGMD?<\/strong>:<\/p>\n<p>At this stage of my life, it would be maintaining friendships. It\u2019s easy for me to make friends but I can\u2019t maintain them as I can\u2019t go to bars all night, I can\u2019t hike, ride a bike and do other physical things and lastly, it\u2019s difficult for me to go from A to B unassisted. All my social outings have to be very well planned to the detail and sometimes takes the fun out of things. People realize I\u2019m too much of a bother and just don\u2019t invite me to things anymore and it hurts to be left out. It hurts my wife even more as she isn\u2019t handicap and she gets lumped in with me.<\/p>\n<p><strong>Jakie jest twoje najwi\u0119ksze osi\u0105gni\u0119cie?<\/strong>:<\/p>\n<p>Starting my own research lab at Yale School of Medicine as an Assistant Professor of Genetics. \u00a0http:\/\/www.leklab.org\/<\/p>\n<div class=\"video-shortcode\">\n<blockquote class=\"wp-embedded-content\" data-secret=\"53HDwW5Bo4\"><p><a href=\"http:\/\/www.leklab.org\/\">Lek Lab<\/a><\/p><\/blockquote>\n<p><iframe class=\"wp-embedded-content\" sandbox=\"allow-scripts\" security=\"restricted\" style=\"position: absolute; clip: rect(1px, 1px, 1px, 1px);\" title=\"&#8220;Lek Lab&#8221; &#8212; Lek Lab\" src=\"http:\/\/www.leklab.org\/embed\/#?secret=53HDwW5Bo4\" data-secret=\"53HDwW5Bo4\" width=\"600\" height=\"338\" frameborder=\"0\" marginwidth=\"0\" marginheight=\"0\" scrolling=\"no\"><\/iframe><\/div>\n<p>It has been a long and difficult 13-year journey but I got there! One of the aims of the lab is to improve the diagnosis rate of people with muscular dystrophy, particularly limb girdle muscular dystrophy. I\u2019m really looking forward to working with LGMD patients directly that are still looking for answers as I also know how it\u2019s like to go on a decade-long diagnostic odyssey and the frustration of here we go again on each clinical visit!<\/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>It\u2019s given me purpose and a desire to live for others and not just for myself. I don\u2019t think I would have achieved as much in my life, if I didn\u2019t have the struggles of LGMD and being driven by the hope that one day, no one should need to struggle with this disease again. I want to be part of that effort and be there that day this becomes true!<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>Co chcia\u0142by\u015b, aby \u015bwiat dowiedzia\u0142 si\u0119 o LGMD?<\/strong>:<\/p>\n<p>People with LGMD are beaten down every day both physically and mentally. We get beaten down each day by our family and friends that don\u2019t understand why we can\u2019t smile and get on with life when are muscles are aching and we are denied one more thing we can\u2019t do in life. We get beaten down by the workforce, who expects us to compete with our peers on an unfair playing field, where equal opportunity is lip service so privileged people can feel good about themselves. We get beaten down by the general public, who can\u2019t quite empathize exactly how its like to struggle but think they do. Lastly, we get beaten down by ourselves as we don\u2019t have enough self-belief that we can give a lot back to society instead of the burden people make us to be!<\/p>\n<p>&nbsp;<\/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>The younger and immature me would have said run and run a lot! I\u2019m a lot older and wiser now &#8211; what I would do is all the house chores, grocery shopping and all the boring things I haven\u2019t been able to do, for the rest of my life as a huge thank you and show of gratitude to my wife who has stuck by me all those years.<\/p>\n<p>&nbsp;<\/p>\n<p><strong><span style=\"color: #ff0000;\">* * * * * <\/span><\/strong>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 pod adresem <a href=\"https:\/\/www.lgmd-info.org\/pl\/spotlight-interviews\/\">https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>\n<p>&nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>LGMD \u201cSPOTLIGHT INTERVIEW\u201d Name:\u00a0 Monkol\u00a0 AGE: 38 Country: United States [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1568,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,84],"tags":[85,86,16],"class_list":["post-1569","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2g","tag-lgmd2g","tag-telethoninopathy","tag-united-states"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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