{"id":1945,"date":"2018-05-11T10:07:41","date_gmt":"2018-05-11T15:07:41","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1945"},"modified":"2018-05-11T10:07:41","modified_gmt":"2018-05-11T15:07:41","slug":"anamaria","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/fr\/individuals-with-lgmd-interviews\/2018\/05\/11\/anamaria\/","title":{"rendered":"INDIVIDUELLE AVEC LGMD : Anamaria"},"content":{"rendered":"<p><strong>LGMD \"SPOTLIGHT INTERVIEW<\/strong><\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>NOM<\/strong>:  Anamaria \u00a0\u00a0\u00a0<strong>AGE<\/strong>: 25 ans<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2018\/05\/LGMD2A-Anamaria-G-.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1944 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\/05\/LGMD2A-Anamaria-G--300x169.png\" alt=\"\" width=\"300\" height=\"169\" \/><\/a><\/p>\n<p><strong>PAYS<\/strong>:  Roumanie<\/p>\n<p><strong>LGMD Sous-type<\/strong>:  LGMD2A \/ Calpa\u00efnopathie<\/p>\n<p>&nbsp;<\/p>\n<p><strong>\u00c0 quel \u00e2ge avez-vous \u00e9t\u00e9 diagnostiqu\u00e9 ?<\/strong>:<\/p>\n<p>J'ai \u00e9t\u00e9 diagnostiqu\u00e9e cette ann\u00e9e par le test g\u00e9n\u00e9tique du \"s\u00e9quen\u00e7age de l'exome entier\".<\/p>\n<p><strong>Quels ont \u00e9t\u00e9 vos premiers sympt\u00f4mes ?<\/strong>:<\/p>\n<p>Les premiers sympt\u00f4mes sont apparus vers l'\u00e2ge de 23 ans, lorsque j'ai eu des vertiges, et tous les m\u00e9decins m'ont conseill\u00e9 de v\u00e9rifier mon oreille interne. Il convient de pr\u00e9ciser que j'ai effectu\u00e9 le test clinique avec le neurologue, mais \u00e0 l'\u00e9poque, je n'avais aucun probl\u00e8me. Au fil du temps, j'ai commenc\u00e9 \u00e0 monter les escaliers difficilement, \u00e0 me lever maladroitement du sol ou d'une chaise... Les m\u00e9decins n'ont pas r\u00e9ussi \u00e0 me diagnostiquer, m\u00eame apr\u00e8s une biopsie musculaire. Ils m'ont dit que j'avais une dystrophie musculaire et que je devais faire d'autres tests g\u00e9n\u00e9tiques, mais ils ne savaient pas lesquels (la maladie de Pompe et Duchenne\/Becker \u00e9taient n\u00e9gatifs). J'ai donc commenc\u00e9 \u00e0 chercher des informations et j'ai envoy\u00e9 mes analyses en Allemagne.  Seul Centogen m'a r\u00e9pondu et m'a envoy\u00e9 chez un g\u00e9n\u00e9ticien.<\/p>\n<p><strong>Avez-vous d'autres membres de votre famille atteints de LGMD ?\u00a0 <\/strong><\/p>\n<p>Non, je suis la seule personne de ma famille \u00e0 qui l'on a diagnostiqu\u00e9 le LGMD2A.<\/p>\n<p><strong>Quels sont, selon vous, les plus grands d\u00e9fis \u00e0 relever pour vivre avec le LGMD ?<\/strong>:<\/p>\n<p>Il est tr\u00e8s difficile qu'\u00e0 l'\u00e2ge de 25 ans, le plus grand d\u00e9fi consiste \u00e0 penser que l'on peut monter les escaliers tout seul. Je viens de Roumanie et bien que ce soit un pays de l'Union europ\u00e9enne, c'est un pays pauvre et nous n'avons pas de conditions pour ceux qui ont des probl\u00e8mes et quand les gens me voient monter les escaliers diff\u00e9remment, ils me regardent avec m\u00e9fiance, parfois ils me demandent pourquoi je monte comme \u00e7a... Un autre d\u00e9fi serait que lorsque je tombe, je ne peux pas me relever tout seul. C'est difficile de toujours d\u00e9pendre de quelqu'un...<\/p>\n<p><strong>Quelle est votre plus grande r\u00e9ussite ?<\/strong>:<\/p>\n<p>Que je me r\u00e9veille le matin et que je puisse respirer et marcher.<\/p>\n<p><strong>Comment le LGMD vous a-t-il influenc\u00e9 pour que vous deveniez la personne que vous \u00eates aujourd'hui ? \u00a0<\/strong><\/p>\n<p>J'ai lu toutes les interviews de personnes atteintes de la m\u00eame maladie que moi et j'ai remarqu\u00e9 que chacun pense avoir obtenu une meilleure version de lui-m\u00eame, mais dans mon cas, je pense que c'est l'inverse qui s'est produit. Je suis devenue une personne avec beaucoup de peurs.  Par exemple, j'ai m\u00eame peur des escaliers du train, parce qu'ils sont tr\u00e8s hauts...<\/p>\n<p><strong>Que voulez-vous que le monde sache sur le LGMD ?<\/strong>:<\/p>\n<p>Tout d'abord, je veux que le monde connaisse la Roumanie et le fait qu'il est tr\u00e8s difficile pour nous d'obtenir un diagnostic. Nous sommes un pays pauvre. Connaissez-vous le salaire minimum dans notre pays ? 266 euros. Savez-vous combien je paie rien que pour le test g\u00e9n\u00e9tique ? 1 660 euros... Mes recherches indiquent qu'il y a beaucoup de personnes atteintes de dystrophie musculaire en Roumanie, mais qu'elles n'ont pas les moyens d'aller voir un m\u00e9decin et surtout de faire des tests g\u00e9n\u00e9tiques. J'aimerais que ceux qui travaillent dans les essais cliniques cessent de dire qu'ils ne travaillent pas avec des personnes de Roumanie ...<\/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>Je me pr\u00e9senterais certainement et j'essaierais ensuite d'aider le plus grand nombre de personnes possible \u00e0 avoir acc\u00e8s \u00e0 un traitement.<\/p>\n<p>&nbsp;<\/p>\n<p>*** Veuillez LIQUER, COMMENTER et PARTAGER cet article pour aider \u00e0 sensibiliser le public \u00e0 la LGMD !<br \/>\n*** Pour lire d'autres \"LGMD Spotlight Interviews\" ou pour vous porter volontaire pour une prochaine interview, veuillez consulter notre site web \u00e0 l'adresse suivante <a href=\"https:\/\/www.lgmd-info.org\/fr\/spotlight-interviews\/\">https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>LGMD \u201cSPOTLIGHT INTERVIEW\u2019 \u00a0 NAME:\u00a0 Anamaria \u00a0\u00a0\u00a0AGE:\u00a0 25 years old [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1944,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,14],"tags":[97],"class_list":["post-1945","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2a","tag-lgmd2a-romania"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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