{"id":3248,"date":"2023-01-09T13:35:07","date_gmt":"2023-01-09T13:35:07","guid":{"rendered":"https:\/\/cureclcn4.org\/treffen-mit-ashley-jai\/"},"modified":"2023-01-09T13:35:10","modified_gmt":"2023-01-09T13:35:10","slug":"treffen-mit-ashley-jai","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/de\/treffen-mit-ashley-jai\/","title":{"rendered":"Treffen mit Ashley-Jai"},"content":{"rendered":"

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Darf ich vorstellen: Ashley-Jai (aus England, UK)<\/h2>\n

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ENGLISCH<\/strong><\/p>\n

Ashley-Jai ist ein sehr sanftm\u00fctiger und wissbegieriger 9-j\u00e4hriger Junge aus einer kleinen Stadt im S\u00fcdwesten Englands, im Vereinigten K\u00f6nigreich. Er liebt Thomas, den Panzer, und am liebsten verbringt er seine Zeit drau\u00dfen auf seiner Schaukel.<\/p>\n

Im Mai 2020 wurde bei Ashley-Jai eine CLCN4-Genmutation diagnostiziert. Die Diagnose wurde im Rahmen des 100.000-Genome-Projekts gestellt, einer Initiative zur Sequenzierung von 100.000 Genomen von rund 85.000 NHS-Patienten, die von einer seltenen Krankheit betroffen sind, und der Ashley-Jai und seine Mutter Dawn 2016 beigetreten waren.<\/p>\n

F\u00fcr Ashley-Jais Familie brachte die Diagnose CLCN4 ein Gef\u00fchl der Erleichterung. Seit seiner Geburt litt Ashley-Jai unter einer langen Liste von Symptomen wie Sprach- und Sprechverz\u00f6gerungen, Autismus, zwanghaftem, sich wiederholendem Verhalten sowie Schlaf- und Darmproblemen, ohne jedoch die Ursache daf\u00fcr zu kennen. Die Diagnose CLCN4 definierte nat\u00fcrlich nicht neu, wer Ashley-Jai ist – ein liebevoller kleiner Junge mit einer Vorliebe f\u00fcr Zahlen und die freie Natur -, aber sie vermittelte seinen Eltern ein Verst\u00e4ndnis daf\u00fcr, warum Ashley-Jai bestimmte Verhaltensweisen und Bed\u00fcrfnisse zeigte.<\/p>\n

F\u00fcr Ashley-Jais Mutter ist einer der schwierigsten Aspekte der CLCN4-Diagnose die fehlende Anerkennung als Krankheit und das geringe Wissen dar\u00fcber, wie sie sich im Laufe der Zeit entwickelt. Sie hofft, dass die wissenschaftliche Forschung unser Verst\u00e4ndnis und unser Bewusstsein f\u00fcr die CLCN4-Krankheit verbessern wird, so dass wir eines Tages bei einem Termin mit einem neuen Hausarzt oder bei einem Gespr\u00e4ch mit Ashley-Jais neuen Lehrern nicht mehr erkl\u00e4ren m\u00fcssen, was CLCN4 ist, wie es sich \u00e4u\u00dfern kann und wie man sich am besten um Kinder wie Ashley-Jai k\u00fcmmert und ihnen hilft.<\/p>\n

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Wenn Sie Ashley-Jai und andere Kinder mit CLCN4 unterst\u00fctzen m\u00f6chten, ziehen Sie bitte eine Spende an Cure CLCN4 in Betracht. <\/strong><\/span> <\/strong><\/span><\/p>\n

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Nehmen Sie Kontakt auf. Engagieren Sie sich.<\/h2>\n

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Darf ich vorstellen: Ashley-Jai (aus England, UK)ENGLISCH Ashley-Jai ist ein sehr sanftm\u00fctiger und wissbegieriger 9-j\u00e4hriger Junge aus einer kleinen Stadt im S\u00fcdwesten Englands, im Vereinigten K\u00f6nigreich. Er liebt Thomas, den Panzer, und am liebsten verbringt er seine Zeit drau\u00dfen auf seiner Schaukel. Im Mai 2020 wurde bei Ashley-Jai eine CLCN4-Genmutation diagnostiziert. Die Diagnose wurde im […]<\/p>\n","protected":false},"author":2,"featured_media":1846,"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-3248","page","type-page","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/de\/wp-json\/wp\/v2\/pages\/3248","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/de\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/de\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/de\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/de\/wp-json\/wp\/v2\/comments?post=3248"}],"version-history":[{"count":5,"href":"https:\/\/cureclcn4.org\/de\/wp-json\/wp\/v2\/pages\/3248\/revisions"}],"predecessor-version":[{"id":3253,"href":"https:\/\/cureclcn4.org\/de\/wp-json\/wp\/v2\/pages\/3248\/revisions\/3253"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/de\/wp-json\/wp\/v2\/media\/1846"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/de\/wp-json\/wp\/v2\/media?parent=3248"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}