{"id":3348,"date":"2023-01-09T15:41:23","date_gmt":"2023-01-09T15:41:23","guid":{"rendered":"https:\/\/cureclcn4.org\/rencontrez-ashley-jai\/"},"modified":"2023-01-09T15:41:24","modified_gmt":"2023-01-09T15:41:24","slug":"rencontrez-ashley-jai","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/fr\/rencontrez-ashley-jai\/","title":{"rendered":"Rencontrez Ashley-Jai"},"content":{"rendered":"

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Rencontrer Ashley-Jai (de l’Angleterre, UK)<\/h2>\n

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ANGLAIS<\/strong><\/p>\n

Ashley-Jai est un gar\u00e7on de 9 ans, tr\u00e8s doux et curieux, originaire d’une petite ville du sud-ouest de l’Angleterre, au Royaume-Uni. Il adore Thomas le char d’assaut et l’une de ses activit\u00e9s pr\u00e9f\u00e9r\u00e9es est de passer du temps dehors sur sa balan\u00e7oire.<\/p>\n

En mai 2020, Ashley-Jai a \u00e9t\u00e9 diagnostiqu\u00e9 avec une mutation du g\u00e8ne CLCN4. Le diagnostic est arriv\u00e9 gr\u00e2ce au projet 100 000 g\u00e9nomes, une initiative visant \u00e0 s\u00e9quencer 100 000 g\u00e9nomes d’environ 85 000 patients du NHS touch\u00e9s par une maladie rare, et \u00e0 laquelle Ashley-Jai et sa maman, Dawn, avaient adh\u00e9r\u00e9 en 2016.<\/p>\n

Pour la famille d’Ashley-Jai, le diagnostic de CLCN4 a apport\u00e9 un sentiment de soulagement. Depuis sa naissance, Ashley-Jai souffrait d’une longue liste de sympt\u00f4mes tels qu’un retard de parole et de langage, l’autisme, des comportements obsessionnels r\u00e9p\u00e9titifs et des probl\u00e8mes de sommeil et d’intestin, mais sans en conna\u00eetre la cause. Le diagnostic de CLCN4 n’a bien s\u00fbr pas red\u00e9fini l’identit\u00e9 d’Ashley-Jai, un petit gar\u00e7on affectueux qui aime les chiffres et le plein air, mais il a permis \u00e0 ses parents de comprendre pourquoi Ashley-Jai avait certains comportements et besoins.<\/p>\n

Pour la maman d’Ashley-Jai, l’un des aspects les plus difficiles du diagnostic CLCN4 est le manque de reconnaissance de cette maladie et le peu de connaissances sur son \u00e9volution dans le temps. Elle esp\u00e8re que la recherche scientifique permettra de mieux comprendre et de mieux faire conna\u00eetre le CLCN4, de sorte qu’un jour, lors d’un rendez-vous avec un nouveau m\u00e9decin g\u00e9n\u00e9raliste ou lors d’une discussion avec les nouveaux enseignants d’Ashley-Jai, il ne sera plus n\u00e9cessaire d’expliquer ce qu’est le CLCN4, comment il peut se pr\u00e9senter et comment prendre soin et aider au mieux des enfants comme Ashley-Jai.<\/p>\n

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Si vous souhaitez soutenir Ashley-Jai et d’autres enfants atteints du syndrome CLCN4, pensez \u00e0 faire un don \u00e0 Cure CLCN4. <\/strong><\/span> <\/strong><\/span><\/p>\n

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Prenez contact avec nous. Participez.<\/h2>\n

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Rencontrer Ashley-Jai (de l’Angleterre, UK)ANGLAIS Ashley-Jai est un gar\u00e7on de 9 ans, tr\u00e8s doux et curieux, originaire d’une petite ville du sud-ouest de l’Angleterre, au Royaume-Uni. Il adore Thomas le char d’assaut et l’une de ses activit\u00e9s pr\u00e9f\u00e9r\u00e9es est de passer du temps dehors sur sa balan\u00e7oire. En mai 2020, Ashley-Jai a \u00e9t\u00e9 diagnostiqu\u00e9 avec […]<\/p>\n","protected":false},"author":2,"featured_media":1845,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-3348","page","type-page","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3348","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/comments?post=3348"}],"version-history":[{"count":2,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3348\/revisions"}],"predecessor-version":[{"id":3350,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3348\/revisions\/3350"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/media\/1845"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/media?parent=3348"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}