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Ashley-Jai \u00e8 un bambino di 9 anni molto gentile e curioso di una piccola citt\u00e0 nel sud-ovest dell’Inghilterra, nel Regno Unito. Ama Thomas The Tank e una delle sue cose preferite \u00e8 passare il tempo fuori sulla sua altalena. Nel maggio 2020, ad Ashley-Jai \u00e8 stata diagnosticata una mutazione del gene CLCN4. La diagnosi \u00e8 arrivata attraverso il progetto 100.000 genomi, un’iniziativa che mira a sequenziare 100.000 genomi di circa 85.000 pazienti del NHS affetti da una malattia rara e a cui Ashley-Jai e sua mamma, Dawn, avevano aderito nel 2016. Per la famiglia di Ashley-Jai, la diagnosi di CLCN4 ha portato un senso di sollievo. Fin dalla nascita, Ashley-Jai aveva sofferto di una lunga lista di sintomi come il ritardo del linguaggio e della parola, l’autismo, comportamenti ossessivi ripetitivi e problemi di sonno e intestinali, ma senza alcuna idea della causa dietro di essi. La diagnosi di CLCN4 non ha ovviamente ridefinito chi \u00e8 Ashley-Jai, un bambino affettuoso con l’amore per i numeri e l’aria aperta, ma ha fornito ai suoi genitori una comprensione del perch\u00e9 Ashley-Jai avesse certi comportamenti e bisogni. Per la mamma di Ashley-Jai, uno degli aspetti pi\u00f9 impegnativi della diagnosi CLCN4 \u00e8 la mancanza di riconoscimento come condizione e la poca conoscenza di come progredisce nel tempo. Spera che la ricerca scientifica migliori la nostra comprensione e consapevolezza della CLCN4 come condizione in modo che un giorno, quando si andr\u00e0 ad un appuntamento con un nuovo medico o si parler\u00e0 con i nuovi insegnanti di Ashley-Jai, non ci sar\u00e0 bisogno di spiegare cos’\u00e8 la CLCN4, come si pu\u00f2 presentare e come prendersi cura e aiutare al meglio i bambini come Ashley-Jai. \u00a0<\/p>\n
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Se vuoi sostenere Ashley-Jai e altri bambini con CLCN4, considera di fare una donazione a Cure CLCN4. <\/strong><\/span>\u00a0<\/strong><\/span><\/p>\n [\/et_pb_text][et_pb_button button_url=”https:\/\/www.paypal.com\/donate?hosted_button_id=DFUAQJX8LFB8S” url_new_window=”on” button_text=”Dona ora” button_alignment=”center” _builder_version=”4.9.3″ _module_preset=”default” custom_button=”on” button_text_size=”22px” button_text_color=”#ffffff” button_bg_color=”#12876f” button_border_width=”0px” button_border_color=”#f0b800″ button_border_radius=”4px” button_letter_spacing=”0px” button_icon_color=”#000000″][\/et_pb_button][et_pb_text _builder_version=”4.5.8″ _module_preset=”default”]<\/p>\n t<\/p>\n [\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Video” _builder_version=”3.22″ background_color=”#3a897e” custom_padding=”0|1px|0|0px|false|false” collapsed=”off”][et_pb_row _builder_version=”4.5.8″ _module_preset=”default”][et_pb_column type=”4_4″ _builder_version=”4.5.8″ _module_preset=”default”]<\/p>\n [et_pb_divider show_divider=”off” _builder_version=”4.5.8″ _module_preset=”default”][\/et_pb_divider]<\/p>\n [\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ fullwidth=”on” _builder_version=”3.22″ background_color=”#f7f9f9″ use_background_color_gradient__hover=”off” use_background_color_gradient__hover_enabled=”off” background_color_gradient_start__hover=”#2b87da” background_color_gradient_start__hover_enabled=”#2b87da” background_color_gradient_end__hover=”#29c4a9″ background_color_gradient_end__hover_enabled=”#29c4a9″ background_color_gradient_type__hover=”linear” background_color_gradient_type__hover_enabled=”linear” background_color_gradient_direction__hover=”180deg” background_color_gradient_direction__hover_enabled=”180deg” background_color_gradient_direction_radial__hover=”center” background_color_gradient_direction_radial__hover_enabled=”center” background_color_gradient_start_position__hover=”0%” background_color_gradient_start_position__hover_enabled=”0%” background_color_gradient_end_position__hover=”100%” background_color_gradient_end_position__hover_enabled=”100%” background_color_gradient_overlays_image__hover=”off” background_color_gradient_overlays_image__hover_enabled=”off” parallax__hover=”off” parallax__hover_enabled=”off” parallax_method__hover=”on” parallax_method__hover_enabled=”on” background_size__hover=”cover” background_size__hover_enabled=”cover” background_position__hover=”center” background_position__hover_enabled=”center” background_repeat__hover=”no-repeat” background_repeat__hover_enabled=”no-repeat” background_blend__hover=”normal” background_blend__hover_enabled=”normal” allow_player_pause__hover=”off” allow_player_pause__hover_enabled=”off” background_video_pause_outside_viewport__hover=”on” background_video_pause_outside_viewport__hover_enabled=”on”][et_pb_fullwidth_image src=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-23.png” _builder_version=”3.17.6″ animation_style=”slide” animation_direction=”bottom” animation_intensity_slide=”4%”][\/et_pb_fullwidth_image][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Footer” _builder_version=”3.22″ background_color=”rgba(14,113,98,0.9)” use_background_color_gradient=”on” background_color_gradient_start=”#0e7162″ background_color_gradient_end=”rgba(14,113,98,0.88)” background_color_gradient_overlays_image=”on” background_image=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-25.jpg” collapsed=”off”][et_pb_row _builder_version=”3.25″][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.5.8″ text_font=”||||||||” text_line_height=”2em” ul_font=”||||||||” ol_font=”||||||||” header_font=”||||||||” header_2_font=”Faustina|600|||||||” header_2_font_size=”42px” header_2_line_height=”1.4em” header_3_font=”||||||||” header_4_font=”||||||||” header_5_font=”||||||||” header_6_font=”||||||||” text_orientation=”center” background_layout=”dark” max_width=”600px” module_alignment=”center” header_2_font_size_tablet=”32px” header_2_font_size_phone=”22px” header_2_font_size_last_edited=”on|desktop” locked=”off”]<\/p>\n [\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=”3.25″ background_color=”#ffffff” max_width=”850px” custom_padding=”60px|60px|60px|60px|true|true” animation_style=”slide” animation_direction=”top” animation_intensity_slide=”2%” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”850px”][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_contact_form email=”info@cureclcn4.org” success_message=”Grazie per averci contattato. 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Ama Thomas The Tank e una delle sue cose preferite \u00e8 passare il tempo fuori sulla sua altalena. Nel maggio 2020, ad Ashley-Jai \u00e8 stata diagnosticata una mutazione del gene […]<\/p>\n","protected":false},"author":2,"featured_media":1847,"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-2221","page","type-page","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages\/2221","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/comments?post=2221"}],"version-history":[{"count":6,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages\/2221\/revisions"}],"predecessor-version":[{"id":3193,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages\/2221\/revisions\/3193"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/media\/1847"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/media?parent=2221"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}Mettiti in contatto. Fatti coinvolgere.<\/h2>\n