{"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\/fr\/lgmd2c\/2023\/04\/22\/peter\/","title":{"rendered":"INDIVIDU AVEC LGMD : Peter"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\"><p><img decoding=\"async\" class=\"lazyload aligncenter size-medium wp-image-6116\" 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\/2023\/04\/LGMD2C-Peter-300x169.png\" alt=\"Lgmd2c Peter\" width=\"300\" height=\"169\" \/><\/p>\n<p><strong>Nom<\/strong>:  Pierre<\/p>\n<p><strong>L'\u00e2ge<\/strong>: \u00a010<\/p>\n<p><strong>Pays<\/strong>:  \u00c9TATS-UNIS<\/p>\n<p><strong>LGMD Sous-type<\/strong>:  LGMD 2C\/R5 gamma-sarcoglycanopathie<\/p>\n<p><em>* Compl\u00e9t\u00e9 par la m\u00e8re de Peter<\/em><\/p>\n<p><strong>\u00c0 quel \u00e2ge avez-vous \u00e9t\u00e9 diagnostiqu\u00e9 ?<\/strong>?<\/p>\n<p>Ma m\u00e8re et mon p\u00e8re ont commenc\u00e9 \u00e0 remarquer une faiblesse musculaire qui s'aggravait et qui devenait tr\u00e8s inqui\u00e9tante. Nous avons donc emmen\u00e9 Peter chez le m\u00e9decin g\u00e9n\u00e9raliste pour qu'il fasse des analyses afin de v\u00e9rifier s'il s'agissait d'une maladie neuromusculaire. Nous avons constat\u00e9 une \u00e9l\u00e9vation de la CK et avons commenc\u00e9 notre parcours diagnostique - le test g\u00e9n\u00e9tique a confirm\u00e9 la pr\u00e9sence d'une LGMD 2C.<\/p>\n<p><strong>Quels ont \u00e9t\u00e9 vos premiers SYMPT\u00d4MES ? <\/strong><\/p>\n<p>Les premiers sympt\u00f4mes, \u00e0 l'\u00e2ge de 6-7 ans, comprenaient une hypertrophie des mollets, une l\u00e9g\u00e8re marche sur les orteils et une incapacit\u00e9 \u00e0 suivre ses pairs dans des sports adapt\u00e9s \u00e0 son \u00e2ge (c'est-\u00e0-dire courir sur les bases, frapper des balles de base-ball, etc.)<\/p>\n<p>\u00c0 l'\u00e2ge de 8-9 ans, les sympt\u00f4mes comprenaient des difficult\u00e9s \u00e0 se lever du sol en utilisant les jambes, des difficult\u00e9s dans les escaliers et des chutes fr\u00e9quentes.<\/p>\n<p><strong>Avez-vous d'autres membres de votre famille qui sont atteints de LGMD ?<\/strong><\/p>\n<p>La s\u0153ur cadette, \u00e2g\u00e9e de 7 ans, a \u00e9t\u00e9 diagnostiqu\u00e9e plus tard avec une LGMD 2C. Aucun ant\u00e9c\u00e9dent parental ou familial de dystrophie.<\/p>\n<p><strong>Quels sont, selon vous, les plus grands d\u00e9fis \u00e0 relever pour vivre avec le LGMD ?<\/strong>?<\/p>\n<p>Peter a commenc\u00e9 \u00e0 manifester une certaine fatigue au cours de la journ\u00e9e scolaire, ce qui n\u00e9cessite des pauses fr\u00e9quentes, du temps suppl\u00e9mentaire pour se rendre aux cours et certains am\u00e9nagements dans les classes. La difficult\u00e9 \u00e0 monter les escaliers et \u00e0 marcher sur de longues distances constitue un d\u00e9fi presque quotidien.<\/p>\n<p><strong>Quelle est votre plus grande r\u00e9ussite ?<\/strong><\/p>\n<p>Bien qu'il ait \u00e9t\u00e9 exclu des \u00e9quipes sportives et qu'il ne soit pas toujours capable de suivre ses camarades, Peter a nou\u00e9 de merveilleuses amiti\u00e9s tout au long de l'\u00e9cole primaire. Lorsqu'il a commenc\u00e9 \u00e0 pr\u00e9senter des sympt\u00f4mes, ses amis se sont ralli\u00e9s \u00e0 lui pour le soutenir et l'aider. Son vaste groupe d'amis est le r\u00e9sultat direct de sa personnalit\u00e9 aimable et affable. En fait, la plupart de ses amis affirment que Peter est leur \"meilleur ami\".<\/p>\n<p><strong>Comment le LGMD vous a-t-il influenc\u00e9 pour que vous deveniez la personne que vous \u00eates aujourd'hui ?<\/strong><\/p>\n<p>Peter est encore en train d'apprendre ce qu'est la LGMD. Nous avons discut\u00e9 de sa maladie neuromusculaire avec un langage adapt\u00e9 \u00e0 son \u00e2ge, tout en \u00e9tant prudents quant \u00e0 la capacit\u00e9 d'un enfant de 10 ans \u00e0 \" googler \" n'importe quoi. Nous discutons de l'importance de la kin\u00e9sith\u00e9rapie, des \u00e9tirements et du repos n\u00e9cessaire en cas de fatigue. Peter s'est efforc\u00e9 de suivre le rythme au cours des derni\u00e8res ann\u00e9es, sans se plaindre ni abandonner, alors qu'il travaillait beaucoup plus que nous ne le pensions. Peter s'int\u00e9resse \u00e0 l'ing\u00e9nierie et \u00e0 l'architecture des avions, des porte-avions, des navires de guerre, etc. Il r\u00eave de concevoir et de construire des navires de guerre, tels que des porte-avions et des destroyers.<\/p>\n<p><strong>Que voulez-vous que le monde sache sur le LGMD ?<\/strong>?<\/p>\n<p>En tant que famille, nous aimerions faire conna\u00eetre la LGMD, et plus particuli\u00e8rement les sarcoglycanes. Ces maladies h\u00e9r\u00e9ditaires, rares et g\u00e9n\u00e9tiques peuvent survenir sans avertissement ni ant\u00e9c\u00e9dents familiaux. La recherche sur la LGMD est limit\u00e9e, tout comme les options th\u00e9rapeutiques potentielles. Une id\u00e9e fausse tr\u00e8s r\u00e9pandue au sujet de la LGMD est qu'elle peut survenir plus tard dans la vie et qu'elle a une \"progression lente\" - cependant, les sarcoglycanes affectent g\u00e9n\u00e9ralement les enfants et peuvent avoir une progression rapide de la maladie.<\/p>\n<p><strong>Si votre LGMD pouvait \u00eatre \"gu\u00e9rie\" demain, quelle serait la premi\u00e8re chose que vous souhaiteriez faire ?<\/strong>?<\/p>\n<p>Peter aimerait certainement jouer au baseball avec ses amis, courir avec son fr\u00e8re et apprendre \u00e0 remonter un thon g\u00e9ant avec papa !<\/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":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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