{"id":1138,"date":"2016-01-30T12:59:17","date_gmt":"2016-01-30T18:59:17","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1138"},"modified":"2016-01-30T12:59:17","modified_gmt":"2016-01-30T18:59:17","slug":"thomas","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/fr\/individuals-with-lgmd-interviews\/2016\/01\/30\/thomas\/","title":{"rendered":"INDIVIDU AVEC LGMD : Thomas"},"content":{"rendered":"

01\/30\/2016<\/p>\n

LGMD \"Spotlight interview\" (en anglais)<\/strong><\/p>\n

Nom<\/strong>: Thomas\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 AG<\/strong>E : 31\"LGMD2B<\/a><\/p>\n

PAYS<\/strong>: Suisse<\/p>\n

LGMD Sous-type<\/strong>: LGMD 2B \/ Myopathie de Miyoshi<\/p>\n

\u00a0<\/strong><\/p>\n

\u00c0 quel \u00e2ge avez-vous \u00e9t\u00e9 diagnostiqu\u00e9 ?<\/strong>:<\/p>\n

Mon premier diagnostic (biopsie) a \u00e9t\u00e9 pos\u00e9 \u00e0 l'\u00e2ge de 28 ans, suivi de la preuve par un test g\u00e9n\u00e9tique un an plus tard.<\/p>\n

Quels ont \u00e9t\u00e9 vos premiers sympt\u00f4mes ?<\/strong>:<\/p>\n

Ce n'est pas si facile \u00e0 dire. Dans mon enfance, nous avions un escalier en pente raide autour de la maison, o\u00f9 j'ai toujours eu des difficult\u00e9s \u00e0 monter parce que les marches \u00e9taient tr\u00e8s courtes. \u00c0 l'adolescence, j'ai commenc\u00e9 \u00e0 faire du snowboard, mais je n'\u00e9tais pas en mesure d'exercer une forte pression sur le bord avant de la planche. Jeune adulte, je ne pouvais pas sauter sur la musique des discoth\u00e8ques. \u00c0 l'\u00e2ge de 24\/25 ans, j'ai r\u00e9alis\u00e9 que je ne pouvais pas me tenir sur la pointe des pieds et que mes muscles du mollet \u00e9taient inexistants. Ces derni\u00e8res ann\u00e9es, j'ai constat\u00e9 que les muscles de mes jambes et de mes bras se raccourcissaient.<\/p>\n

\u00c0 18 ans, mon m\u00e9decin m'a dit que j'avais des valeurs de cr\u00e9atine kinase trop \u00e9lev\u00e9es dans mon sang. Ce taux se situait entre 250 et 300, ce qui est trop bas pour des maladies connues et trop \u00e9lev\u00e9 pour \u00eatre normal. Aujourd'hui, je sais que c'\u00e9tait le premier indicateur m\u00e9dical de Miyoshi.<\/p>\n

Avez-vous d'autres membres de votre famille atteints de LGMD ?<\/strong><\/p>\n

Oui, ma s\u0153ur est \u00e9galement atteinte de LGMD. Ses sympt\u00f4mes (se tenir sur les orteils, cr\u00e9atine kinase) sont les m\u00eames, mais elle semble moins affect\u00e9e.<\/p>\n

Quels sont, selon vous, les plus grands d\u00e9fis \u00e0 relever pour vivre avec le LGMD ?<\/strong>:<\/p>\n

\u00c0 mon avis, le plus grand d\u00e9fi est d'accepter ce d\u00e9fi ! Au d\u00e9but, apr\u00e8s le diagnostic, il \u00e9tait difficile de l'accepter. Il faut de la force psychologique pour y faire face. De plus, lorsque vous observez l'\u00e9volution de la maladie, il ne faut pas surestimer ou sous-estimer les sympt\u00f4mes et les effets. En se projetant dans l'avenir, il faut toujours planifier les choses en tenant compte du LGMD (peut-\u00eatre aurez-vous besoin d'un fauteuil roulant dans 5, 7 ou 10 ans).<\/p>\n

Quelle est votre plus grande r\u00e9ussite ?<\/strong>:<\/p>\n

Accepter le LGMD et prendre plaisir \u00e0 faire des choses que je ne pourrai plus faire \u00e0 l'avenir.<\/p>\n

Comment le LGMD vous a-t-il influenc\u00e9 pour que vous deveniez la personne que vous \u00eates aujourd'hui ?<\/strong><\/p>\n

Le diagnostic a \u00e9t\u00e9 pos\u00e9 au d\u00e9but de mes \u00e9tudes de master. Parall\u00e8lement \u00e0 mes \u00e9tudes de licence et de master (\u00e9tudes \u00e0 temps plein), je travaillais les week-ends et pendant les vacances scolaires. Aujourd'hui, je travaille \u00e0 temps partiel et j'ai une bonne raison de profiter de mon temps libre avec ma femme, nos chiens et notre jardin. J'appr\u00e9cie davantage ce que j'ai maintenant.<\/p>\n

Que voulez-vous que le monde sache sur le LGMD ?<\/strong>:<\/p>\n

Qu'elle existe. Je pense qu'il existe de nombreux cas non r\u00e9pertori\u00e9s de LGMD.<\/p>\n

Si votre LGMD pouvait \u00eatre \"gu\u00e9rie\" demain, quelle serait la premi\u00e8re chose que vous souhaiteriez faire ?<\/strong>:<\/p>\n

Je viens de perdre mon permis de conduire pour les camions et les autocars \u00e0 cause de Miyoshi. Ce n'\u00e9tait pas seulement un travail pour financer mes \u00e9tudes, c'\u00e9tait aussi mon hobby. Je l'ai donc r\u00e9cup\u00e9r\u00e9 et je me suis mis \u00e0 conduire.<\/p>\n

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

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

01\/30\/2016 LGMD \u201cSpotlight interview\u201d Name:\u00a0 Thomas\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 AGE: 31 COUNTRY: Switzerland […]<\/p>","protected":false},"author":1,"featured_media":1139,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,22],"tags":[23,55,58],"class_list":["post-1138","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2b","tag-lgmd2b","tag-miyoshi-myopathy","tag-switzerland"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Thomas - 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=\"http:\/\/www.lgmd-info.org\/fr\/individuals-with-lgmd-interviews\/2016\/01\/30\/thomas\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Thomas - 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