{"id":7666,"date":"2023-04-02T16:22:56","date_gmt":"2023-04-02T16:22:56","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=7666"},"modified":"2024-02-09T14:23:49","modified_gmt":"2024-02-09T14:23:49","slug":"individual-with-lgmd-jacob","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/fr\/lgmd2d\/2023\/04\/02\/individual-with-lgmd-jacob\/","title":{"rendered":"INDIVIDU AVEC LGMD : Jacob"},"content":{"rendered":"

\"<\/strong><\/p>\n

Nom<\/strong>: Jacob<\/p>\n

L'\u00e2ge<\/strong>: 6 ans<\/p>\n

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

LGMD Sous-type<\/strong>: LGMD2D \/ R3<\/p>\n

* * * Compl\u00e9t\u00e9 par les parents de Jacob, Josh & Rachel<\/em><\/p>\n

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

Jacob a \u00e9t\u00e9 diagnostiqu\u00e9 LGMD2D \/ R3 \u00e0 l'\u00e2ge de 5 ans.<\/p>\n

\u00a0<\/strong>Quels ont \u00e9t\u00e9 vos premiers sympt\u00f4mes ?<\/strong><\/p>\n

Nous avons d\u00e9couvert le diagnostic de Jacob apr\u00e8s un cas de rhabdomyolyse au cours de l'\u00e9t\u00e9 2021. Aujourd'hui, ses principaux sympt\u00f4mes sont des signaux occasionnels de type rhabdo, notamment des urines fonc\u00e9es, et ses jambes commencent \u00e0 lui faire mal lorsqu'il est trop actif sans s'hydrater suffisamment.<\/p>\n

\u00a0<\/strong>Avez-vous d'autres membres de votre famille qui sont atteints de LGMD ?<\/strong><\/p>\n

Nous n'avons pas d'autres membres de la famille atteints de LGMD ou d'autres formes de dystrophie musculaire.<\/p>\n

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

L'inqui\u00e9tude constante de la progression de Jacob au fil du temps, alors que nous attendons un traitement ou une cure indispensable, et que nous ne savons pas quand ce traitement ou cette cure sera disponible. Nous devons constamment rappeler \u00e0 Jacob \u00e0 quel point il est important de s'hydrater quotidiennement ; il boit environ 48 oz d'eau par jour depuis l'incident initial de rhabdomyolyse. C'est beaucoup pour n'importe qui, et encore plus pour un enfant de 6 ans ! Nous ne permettons pas non plus \u00e0 Jacob de participer \u00e0 des sports d'\u00e9quipe \u00e0 l'heure actuelle, sur recommandation des m\u00e9decins et par crainte de solliciter ses muscles et d'acc\u00e9l\u00e9rer sa progression. Il est \u00e0 l'\u00e2ge o\u00f9 tous ses amis jouent dans des \u00e9quipes sportives tout au long de l'ann\u00e9e. Ce sens de la camaraderie, de l'esprit sportif et de la solidarit\u00e9 avec ses pairs est essentiel \u00e0 cet \u00e2ge et au fur et \u00e0 mesure qu'il grandit. En tant que parents, il est d\u00e9chirant de voir son enfant confront\u00e9 \u00e0 ces difficult\u00e9s.<\/p>\n

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

La plus grande r\u00e9ussite actuelle de Jacob est qu'il n'abandonne pas. C'est un jeune gar\u00e7on fort, intelligent et d\u00e9termin\u00e9 qui fait toujours de son mieux et qui travaille le plus dur. Il est fier que ce soit l'un de ses traits de caract\u00e8re les plus forts et aime se d\u00e9crire comme \"f\u00e9roce\".<\/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 LGMD a influenc\u00e9 Jacob depuis son diagnostic. Il est plus attentif \u00e0 \u00e9couter son corps lorsqu'il a besoin de se reposer. Il n'a pas peur de demander une pause \u00e0 ses professeurs s'il en a besoin, en particulier pendant l'\u00e9ducation physique et la r\u00e9cr\u00e9ation. Ses professeurs nous ont dit \u00e0 quel point ils \u00e9taient fiers et impressionn\u00e9s qu'il fasse cela \u00e0 un si jeune \u00e2ge.<\/p>\n

En tant que parents, nous avons une nouvelle motivation et un nouvel objectif : aider l'ensemble de la communaut\u00e9 LGMD, y compris Jacob, \u00e0 obtenir les traitements dont chaque patient a besoin et qu'il m\u00e9rite. Nous sommes devenus des d\u00e9fenseurs de la sensibilisation \u00e0 cette maladie rare et nous sommes d\u00e9termin\u00e9s \u00e0 aider la communaut\u00e9 dans la mesure de nos moyens.<\/p>\n

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

Nous voulons que le monde entier sache que la LGMD est une maladie grave et rare qui a d\u00e9sesp\u00e9r\u00e9ment besoin de traitements et d'un rem\u00e8de le plus rapidement possible. Cette maladie s'aggrave avec le temps, c'est pourquoi le temps est un facteur essentiel. La sensibilisation \u00e0 cette maladie est essentielle pour faire avancer cette mission. Plus les gens en sauront sur cette maladie et sur sa gravit\u00e9, plus la recherche et les essais cliniques se multiplieront. Nos proches ont besoin d'options th\u00e9rapeutiques, tout comme d'autres personnes atteintes de maladies rares ou non.<\/p>\n

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

Jacob aimerait pouvoir jouer au basket dans une \u00e9quipe locale. S'il \u00e9tait gu\u00e9ri demain, il voudrait jouer \u00e0 des sports d'\u00e9quipe sans avoir \u00e0 s'inqui\u00e9ter d'une consommation excessive d'eau, d'avoir mal aux jambes parce qu'il est trop actif ou d'un autre cas de rhabdomyolyse.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":7668,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,28],"tags":[29,122,16],"class_list":["post-7666","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2d","tag-lgmd2d","tag-lgmdr3","tag-united-states"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Jacob - 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=\"https:\/\/www.lgmd-info.org\/fr\/lgmd2d\/2023\/04\/02\/individual-with-lgmd-jacob\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Jacob - 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