{"id":1382,"date":"2016-10-26T14:12:37","date_gmt":"2016-10-26T19:12:37","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1382"},"modified":"2016-10-26T14:12:37","modified_gmt":"2016-10-26T19:12:37","slug":"amie","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/fr\/individuals-with-lgmd-interviews\/2016\/10\/26\/amie\/","title":{"rendered":"INDIVIDUELLE AVEC LGMD : Amie"},"content":{"rendered":"

LGMD \"SPOTLIGHT INTERVIEW\"<\/strong><\/p>\n

Nom<\/strong>: Amie\u00a0 L'\u00e2ge<\/strong>: 31 ans\"lgmd2j-amie\"<\/a><\/p>\n

Pays<\/strong>: \u00c9tats-Unis<\/p>\n

LGMD Sous-type<\/strong>: LGMD2J (Titinopathie)<\/p>\n

 <\/p>\n

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

On vient de me diagnostiquer, \u00e0 l'\u00e2ge de 31 ans, une LGMD2J, \u00e9galement connue sous le nom de titinopathie.<\/p>\n

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

J'ai toujours eu des probl\u00e8mes avec mes jambes et la marche, mais on m'a toujours dit que c'\u00e9tait \u00e0 cause de tendons d'Achille trop courts. Apr\u00e8s avoir subi des op\u00e9rations pour les allonger, mes mollets se sont atrophi\u00e9s. Mes muscles abdominaux semblaient faibles et j'ai toujours pens\u00e9 que c'\u00e9tait \u00e0 cause de mes deux c\u00e9sariennes. Ce n'est que cette ann\u00e9e que mon corps a chang\u00e9 radicalement en devenant faible. Je ne pouvais plus l'ignorer et je me suis donn\u00e9 pour mission de trouver des r\u00e9ponses.<\/p>\n

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

Aucun membre connu de la famille ne souffre de cette maladie.<\/p>\n

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

Mon LGMD pr\u00e9sente de nombreux d\u00e9fis. Je me bats tous les jours pour des activit\u00e9s quotidiennes \"normales\" : traverser une pi\u00e8ce, me lever d'une position assise, monter une marche ou une c\u00f4te, monter dans un camion, me pencher, m'\u00e9quilibrer, etc. C'est parfois frustrant. Je passe \u00e0 c\u00f4t\u00e9 de beaucoup de choses \u00e0 cause de la douleur constante que je ressens. Si j'en fais trop (ce qui n'est pas \u00e9norme), cela m'immobilise pendant des jours. Je dois choisir ce qui est important et ce qui ne l'est pas. Tout cela affecte \u00e9galement la vie de ma famille, dont je porte le fardeau. La LGMD m'a d\u00e9finitivement priv\u00e9 d'une partie de ma libert\u00e9, ce qui est difficile \u00e0 vivre, mais j'essaie de garder un \u00e9tat d'esprit positif !<\/p>\n

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

Ma plus grande r\u00e9ussite est d'\u00eatre une m\u00e8re, une \u00e9pouse et une s\u0153ur ! J'ai deux belles filles, un mari extraordinaire et la famille la plus encourageante que l'on puisse demander. C'est gr\u00e2ce \u00e0 eux que je reste positive et que je me bats comme une fille ! Toute ma vie, je n'ai voulu qu'une chose : \u00eatre m\u00e8re et avoir une famille aimante ! Je suis vraiment b\u00e9nie !<\/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

Bien que mon diagnostic soit relativement r\u00e9cent, j'ai toujours su que quelque chose n'allait pas au fond de moi. En fait, je me suis autodiagnostiqu\u00e9e comme ayant une LGMD avant d'obtenir un diagnostic de mon neurologue. Aussi, lorsque les r\u00e9sultats des tests sont arriv\u00e9s, j'ai ressenti une joie maladroite. J'avais enfin un diagnostic ! J'ai l'impression que cette maladie m'a \u00e9t\u00e9 donn\u00e9e pour une raison \u00e0 laquelle je n'ai pas encore trouv\u00e9 de r\u00e9ponse. Je crois vraiment que tout arrive pour une raison et que le timing est essentiel. Le LGMD est une maladie tellement rare qu'elle est inconnue dans ma r\u00e9gion. Je vais donc faire autant de recherches que possible et sensibiliser le plus grand nombre de personnes possible. Je sais que je suis forte, m\u00eame si mes muscles ne le sont pas. J'appr\u00e9cie les petites choses de la vie et je vis le moment pr\u00e9sent ! Je recherche \u00e9galement le positif dans chaque situation. La vie est trop courte pour se concentrer sur le n\u00e9gatif !<\/p>\n

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

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

Je veux que le monde sache qu'une personne sur 43 000 est atteinte de dystrophie musculaire des ceintures. Malheureusement, il n'existe pas de traitement pour cette maladie. En raison de sa raret\u00e9, les fonds allou\u00e9s \u00e0 la recherche sont moindres, ce qui m'emp\u00eache de b\u00e9n\u00e9ficier d'un traitement. La dystrophie musculaire des ceintures peut s'immiscer dans n'importe quelle famille et elle affecte des vies au quotidien. Je pr\u00e9vois que cette maladie finira par m'\u00f4ter la capacit\u00e9 de marcher, mais je vais me battre aussi longtemps que je le pourrai !<\/p>\n

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

Par o\u00f9 commencer ? J'emm\u00e8nerais mes filles \u00e0 Disney World, puis je ferais de la randonn\u00e9e dans le Colorado ! Je monterais une vol\u00e9e de marches juste parce que je le peux ! Les petites choses que j'avais l'habitude de faire comme faire du shopping, danser ou m\u00eame prendre un bain me manquent ! On ne se rend pas compte de la libert\u00e9 que l'on perd jusqu'\u00e0 ce qu'elle disparaisse !<\/p>\n

 <\/p>\n

Pour lire d'autres \"LGMD Spotlight Interviews\" ou pour vous porter volontaire en vue d'une prochaine interview, veuillez consulter notre site web \u00e0 l'adresse suivante : https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>","protected":false},"excerpt":{"rendered":"

LGMD \u201cSPOTLIGHT INTERVIEW\u201d Name:\u00a0 Amie\u00a0 Age: 31 yrs old Country: […]<\/p>","protected":false},"author":1,"featured_media":1381,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,66],"tags":[68,16],"class_list":["post-1382","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2j","tag-lgmd2j-titinopathy","tag-united-states"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Amie - 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\/10\/26\/amie\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Amie - 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