{"id":2204,"date":"2021-11-25T11:31:29","date_gmt":"2021-11-25T11:31:29","guid":{"rendered":"https:\/\/cureclcn4.org\/nuova-diagnosi\/"},"modified":"2023-01-06T11:40:13","modified_gmt":"2023-01-06T11:40:13","slug":"nuova-diagnosi","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/it\/nuova-diagnosi\/","title":{"rendered":"Nuova diagnosi"},"content":{"rendered":"<p>[et_pb_section fb_built=&#8221;1&#8243; admin_label=&#8221;Header&#8221; _builder_version=&#8221;3.22&#8243; background_color=&#8221;#f7f9f9&#8243; parallax=&#8221;on&#8221; collapsed=&#8221;off&#8221;][et_pb_row column_structure=&#8221;1_2,1_2&#8243; _builder_version=&#8221;3.25&#8243; custom_padding=&#8221;0px|||||&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;3.25&#8243; custom_padding=&#8221;80px||40px|&#8221; custom_padding_tablet=&#8221;0px||&#8221; custom_padding_phone=&#8221;&#8221; custom_padding_last_edited=&#8221;on|tablet&#8221; padding_tablet=&#8221;0px||&#8221; padding_last_edited=&#8221;on|tablet&#8221; custom_padding__hover=&#8221;|||&#8221;][et_pb_text _builder_version=&#8221;4.5.8&#8243; text_font=&#8221;||||||||&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina|600|||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; custom_margin=&#8221;-19px|||||&#8221; header_font_size_tablet=&#8221;50px&#8221; header_font_size_phone=&#8221;40px&#8221; header_font_size_last_edited=&#8221;on|phone&#8221;]<\/p>\n<h1>Nuova diagnosi &#8211; e ora?<\/h1>\n<p>[\/et_pb_text][et_pb_text _builder_version=&#8221;4.5.8&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;18px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina||||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; custom_margin=&#8221;||17px|||&#8221;]<\/p>\n<p>Dopo una diagnosi di una condizione genetica come CLCN4 \u00e8 normale provare tutta una serie di emozioni e i genitori spesso trovano l&#8217;adattamento ad una nuova diagnosi un periodo molto impegnativo della loro vita.<\/p>\n<p>[\/et_pb_text][et_pb_text _builder_version=&#8221;4.5.8&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;16px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina||||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; custom_margin=&#8221;||17px|||&#8221;]<\/p>\n<p>\u00c8 importante sapere che non deve percorrere questo viaggio da solo. Pu\u00f2 collegarsi con altri genitori di bambini con CLCN4 attraverso il nostro <a href=\"https:\/\/www.facebook.com\/groups\/272975780022928\" target=\"_blank\" rel=\"noopener\">gruppo di sostegno su Facebook<\/a> in modo da poter condividere storie e imparare cosa ha aiutato altri bambini e le loro famiglie.<\/p>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;3.25&#8243; custom_padding=&#8221;|||&#8221; custom_padding__hover=&#8221;|||&#8221;][et_pb_image src=&#8221;https:\/\/cureclcn4.org\/wp-content\/uploads\/2021\/01\/CLCN4-hands.jpg&#8221; alt=&#8221;CLCN4 treatments&#8221; title_text=&#8221;CLCN4 hands&#8221; show_bottom_space=&#8221;off&#8221; align_tablet=&#8221;center&#8221; align_phone=&#8221;&#8221; align_last_edited=&#8221;on|desktop&#8221; _builder_version=&#8221;4.5.8&#8243; custom_margin=&#8221;0px||||false|false&#8221; animation_style=&#8221;slide&#8221; animation_direction=&#8221;right&#8221; animation_intensity_slide=&#8221;2%&#8221;][\/et_pb_image][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; 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hover_transition_duration__hover=&#8221;300ms&#8221; hover_transition_duration__hover_enabled=&#8221;300ms&#8221; hover_transition_delay__hover=&#8221;0ms&#8221; hover_transition_delay__hover_enabled=&#8221;0ms&#8221; hover_transition_speed_curve__hover=&#8221;ease&#8221; hover_transition_speed_curve__hover_enabled=&#8221;ease&#8221; inner_max_width__hover=&#8221;1080px&#8221; inner_max_width__hover_enabled=&#8221;1080px&#8221;][et_pb_row custom_padding_last_edited=&#8221;on|phone&#8221; _builder_version=&#8221;3.25&#8243; background_color=&#8221;#ffffff&#8221; max_width=&#8221;1200px&#8221; custom_padding=&#8221;40px|80px|27px|80px|false|true&#8221; custom_padding_tablet=&#8221;&#8221; custom_padding_phone=&#8221;|30px||30px||true&#8221; box_shadow_style=&#8221;preset3&#8243; box_shadow_vertical=&#8221;40px&#8221; box_shadow_blur=&#8221;100px&#8221; box_shadow_spread=&#8221;-30px&#8221; box_shadow_color=&#8221;rgba(0,0,0,0.22)&#8221; use_custom_width=&#8221;on&#8221; custom_width_px=&#8221;1200px&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;3.25&#8243; custom_padding=&#8221;|||&#8221; custom_padding__hover=&#8221;|||&#8221;][et_pb_text _builder_version=&#8221;4.5.8&#8243; text_font=&#8221;Faustina||||||||&#8221; text_font_size=&#8221;24px&#8221; text_line_height=&#8221;2em&#8221; link_font=&#8221;|700|||||||&#8221; link_text_color=&#8221;#26c699&#8243; header_font=&#8221;||||||||&#8221; header_2_font=&#8221;Faustina|600|||||||&#8221; header_2_text_color=&#8221;#0e7162&#8243; header_2_font_size=&#8221;42px&#8221; header_2_line_height=&#8221;1.4em&#8221; text_orientation=&#8221;center&#8221; max_width=&#8221;850px&#8221; module_alignment=&#8221;center&#8221; text_font_size_tablet=&#8221;&#8221; text_font_size_phone=&#8221;17px&#8221; text_font_size_last_edited=&#8221;on|phone&#8221; header_2_font_size_tablet=&#8221;32px&#8221; header_2_font_size_phone=&#8221;22px&#8221; header_2_font_size_last_edited=&#8221;on|desktop&#8221; locked=&#8221;off&#8221;]<\/p>\n<h2>Non percorra il suo viaggio CLCN4 da solo<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=&#8221;on|phone&#8221; _builder_version=&#8221;4.5.8&#8243; background_color=&#8221;#ffffff&#8221; max_width=&#8221;1200px&#8221; custom_padding=&#8221;29px|80px|28px|80px|false|false&#8221; custom_padding_tablet=&#8221;|80px||80px|false|true&#8221; custom_padding_phone=&#8221;40px|30px||30px||true&#8221; box_shadow_style=&#8221;preset3&#8243; box_shadow_vertical=&#8221;40px&#8221; box_shadow_blur=&#8221;100px&#8221; box_shadow_spread=&#8221;-30px&#8221; box_shadow_color=&#8221;rgba(0,0,0,0.22)&#8221; use_custom_width=&#8221;on&#8221; custom_width_px=&#8221;1200px&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.5.8&#8243; custom_padding=&#8221;|||&#8221; custom_padding__hover=&#8221;|||&#8221;][et_pb_blurb content_max_width=&#8221;800px&#8221; _builder_version=&#8221;4.5.8&#8243; header_font=&#8221;|700|||||||&#8221; header_font_size=&#8221;16px&#8221; header_line_height=&#8221;2em&#8221; body_line_height=&#8221;2em&#8221;]<\/p>\n<p>\u00c8 anche molto importante sapere che, sebbene al momento non abbiamo una cura per il CLCN4, \u00e8 disponibile un supporto professionale che far\u00e0 un&#8217;enorme differenza per la salute, lo sviluppo e il benessere futuri di suo figlio. Interventi precoci come la parola, la fisioterapia e la terapia occupazionale aiuteranno lo sviluppo del suo bambino ed \u00e8 importante che questi vengano iniziati il prima possibile. Sono disponibili terapie per molte delle complicazioni, come l&#8217;epilessia e le difficolt\u00e0 di salute mentale, che potrebbero svilupparsi. Il controllo precoce dell&#8217;epilessia pu\u00f2 fare un&#8217;enorme differenza per lo sviluppo di suo figlio a lungo termine. Per accedere ai migliori consigli \u00e8 importante trovare il giusto team di medici e specialisti per sostenere lei e il suo bambino: questo pu\u00f2 includere specialisti come un neurologo, un oculista, uno psichiatra e uno specialista ortopedico, nonch\u00e9 un genetista clinico. <strong>Il suo primo passo<\/strong> Come primo passo si metta in contatto con il suo medico di famiglia o pediatra e fornisca loro il link a questo sito web e alla pagina dei professionisti sul nostro sito <a href=\"https:\/\/humandiseasegenes.nl\/clcn4gene\/\" target=\"_blank\" rel=\"noopener\">Human Disease Gene Webseries<\/a>: dove possono collegarsi direttamente con i nostri specialisti clinici e scientifici, la dottoressa Emma Palmer e la dottoressa Vera Kalscheuer. Maggiori informazioni sul supporto e sui prossimi passi pratici dopo una diagnosi genetica che influisce sull&#8217;apprendimento dei bambini si possono trovare <a href=\"https:\/\/www.rarechromo.org\/media\/familyguides\/English\/After%20Diagnosis,%20what%20next%20FTNW.pdf\" target=\"_blank\" rel=\"noopener\">qui<\/a> (Regno Unito) o <a href=\"https:\/\/www.acd.org.au\" target=\"_blank\" rel=\"noopener\">qui <\/a>\/ <a href=\"https:\/\/www.kalparrin.org.au\/about\/\" target=\"_blank\" rel=\"noopener\">qui<\/a> (Australia) o <a href=\"https:\/\/www.angelaidcares.org\/\" target=\"_blank\" rel=\"noopener\">qui<\/a> (USA).<\/p>\n<p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; admin_label=&#8221;Video&#8221; _builder_version=&#8221;3.22&#8243; background_color=&#8221;#3a897e&#8221; custom_padding=&#8221;0|1px|0|0px|false|false&#8221; collapsed=&#8221;off&#8221;][et_pb_row _builder_version=&#8221;4.5.8&#8243; _module_preset=&#8221;default&#8221;][et_pb_column type=&#8221;4_4&#8243; 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_builder_version=&#8221;4.5.8&#8243; custom_padding=&#8221;|||&#8221; custom_padding__hover=&#8221;|||&#8221;][et_pb_blurb content_max_width=&#8221;800px&#8221; _builder_version=&#8221;4.5.8&#8243; header_font=&#8221;|700|||||||&#8221; header_font_size=&#8221;16px&#8221; header_line_height=&#8221;2em&#8221; body_line_height=&#8221;2em&#8221;]<\/p>\n<p>CureCLCN4 \u00e8 stato creato per aiutare a sostenere la ricerca medica per ottenere trattamenti migliori, supporto e infine cure per tutti gli individui con CLCN4. Un primo passo fondamentale per aiutarci a raggiungere questi obiettivi sar\u00e0 quello di far iscrivere al nostro registro dei pazienti il maggior numero possibile di famiglie con CLCN4 in tutto il mondo. I registri dei pazienti possono beneficiare le persone con condizioni genetiche rare come la CLCN4 per tre ragioni principali: <strong>1. I registri dei pazienti possono migliorare la cura del paziente.<\/strong> Stiamo costruendo un registro dei pazienti sicuro, moderno e digitale dove potrai raccontare la tua storia o quella di tuo figlio. Sarai invitato a completare i sondaggi che catturano sistematicamente la storia, i tempi e l&#8217;impatto dei sintomi, e l&#8217;impatto di qualsiasi trattamento. I ricercatori saranno pronti ad analizzare queste informazioni e a fornirle alla nostra comunit\u00e0, per aiutarci a imparare insieme di pi\u00f9 su quali trattamenti ottengono i migliori risultati e in quali situazioni. Pi\u00f9 condividiamo, pi\u00f9 informazioni saranno disponibili per aiutare i nostri figli e gli altri che verranno. <strong>2. I registri amplificano la tua voce.<\/strong> Il nostro registro ti chieder\u00e0 anche di dare il tuo punto di vista su questioni importanti che riguardano te o tuo figlio! Per esempio, chiedendo il tuo punto di vista su quali sono i sintomi pi\u00f9 importanti per cui trovare un trattamento, o su quali trattamenti esistenti vorresti che ci fossero informazioni migliori. Condividere il tuo punto di vista \u00e8 estremamente potente, perch\u00e9 aiuta le agenzie di finanziamento della ricerca, le aziende farmaceutiche, le agenzie di regolamentazione e le nostre organizzazioni di pazienti ad imparare come soddisfare al meglio le tue esigenze. Richiedere ai ricercatori di ascoltare e servire gli interessi del paziente sta diventando sempre pi\u00f9 comune prima che i finanziamenti possano essere ottenuti o i farmaci possano essere approvati. <strong>3. I registri migliorano le possibilit\u00e0 di sviluppo dei farmaci.<\/strong> Non c&#8217;\u00e8 modo di evitarlo, lo sviluppo dei farmaci \u00e8 difficile, richiede tempo e denaro. Le aziende farmaceutiche sono molto pi\u00f9 attratte a sviluppare nuove terapie per le comunit\u00e0 di malattie rare che hanno gi\u00e0 registri di malattie rare con dati utili. Per esempio, ti chiederemo se desideri ricevere informazioni sui nuovi studi clinici, perch\u00e9 sapere questo far\u00e0 risparmiare alle aziende farmaceutiche molto tempo e denaro. I dati e le statistiche delle ricerche dei registri sono necessari alle aziende farmaceutiche per ottenere l&#8217;approvazione del governo e i finanziamenti per lo sviluppo dei farmaci, e alla fine l&#8217;approvazione di nuove terapie. Ti incoraggiamo quindi a registrare il tuo interesse nel nostro registro dei pazienti, che \u00e8 attualmente in fase di sviluppo, e a scegliere di ricevere qui le informazioni sulle future ricerche e sperimentazioni cliniche.<\/p>\n<p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; admin_label=&#8221;Video&#8221; _builder_version=&#8221;3.22&#8243; background_color=&#8221;#3a897e&#8221; custom_padding=&#8221;0|1px|0|0px|false|false&#8221; collapsed=&#8221;off&#8221;][et_pb_row _builder_version=&#8221;4.5.8&#8243; _module_preset=&#8221;default&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.5.8&#8243; _module_preset=&#8221;default&#8221;]<\/p>\n<p>[et_pb_divider show_divider=&#8221;off&#8221; _builder_version=&#8221;4.5.8&#8243; _module_preset=&#8221;default&#8221;][\/et_pb_divider]<\/p>\n<p>[\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; fullwidth=&#8221;on&#8221; _builder_version=&#8221;3.22&#8243; background_color=&#8221;#f7f9f9&#8243; use_background_color_gradient__hover=&#8221;off&#8221; use_background_color_gradient__hover_enabled=&#8221;off&#8221; background_color_gradient_start__hover=&#8221;#2b87da&#8221; background_color_gradient_start__hover_enabled=&#8221;#2b87da&#8221; background_color_gradient_end__hover=&#8221;#29c4a9&#8243; background_color_gradient_end__hover_enabled=&#8221;#29c4a9&#8243; background_color_gradient_type__hover=&#8221;linear&#8221; background_color_gradient_type__hover_enabled=&#8221;linear&#8221; background_color_gradient_direction__hover=&#8221;180deg&#8221; background_color_gradient_direction__hover_enabled=&#8221;180deg&#8221; background_color_gradient_direction_radial__hover=&#8221;center&#8221; background_color_gradient_direction_radial__hover_enabled=&#8221;center&#8221; background_color_gradient_start_position__hover=&#8221;0%&#8221; background_color_gradient_start_position__hover_enabled=&#8221;0%&#8221; background_color_gradient_end_position__hover=&#8221;100%&#8221; background_color_gradient_end_position__hover_enabled=&#8221;100%&#8221; background_color_gradient_overlays_image__hover=&#8221;off&#8221; background_color_gradient_overlays_image__hover_enabled=&#8221;off&#8221; parallax__hover=&#8221;off&#8221; parallax__hover_enabled=&#8221;off&#8221; parallax_method__hover=&#8221;on&#8221; parallax_method__hover_enabled=&#8221;on&#8221; background_size__hover=&#8221;cover&#8221; background_size__hover_enabled=&#8221;cover&#8221; background_position__hover=&#8221;center&#8221; background_position__hover_enabled=&#8221;center&#8221; background_repeat__hover=&#8221;no-repeat&#8221; background_repeat__hover_enabled=&#8221;no-repeat&#8221; background_blend__hover=&#8221;normal&#8221; background_blend__hover_enabled=&#8221;normal&#8221; allow_player_pause__hover=&#8221;off&#8221; allow_player_pause__hover_enabled=&#8221;off&#8221; background_video_pause_outside_viewport__hover=&#8221;on&#8221; background_video_pause_outside_viewport__hover_enabled=&#8221;on&#8221;][et_pb_fullwidth_image src=&#8221;https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-23.png&#8221; _builder_version=&#8221;3.17.6&#8243; animation_style=&#8221;slide&#8221; animation_direction=&#8221;bottom&#8221; animation_intensity_slide=&#8221;4%&#8221;][\/et_pb_fullwidth_image][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; admin_label=&#8221;Footer&#8221; _builder_version=&#8221;3.22&#8243; background_color=&#8221;rgba(14,113,98,0.9)&#8221; use_background_color_gradient=&#8221;on&#8221; background_color_gradient_start=&#8221;#0e7162&#8243; background_color_gradient_end=&#8221;rgba(14,113,98,0.88)&#8221; background_color_gradient_overlays_image=&#8221;on&#8221; background_image=&#8221;https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-25.jpg&#8221; collapsed=&#8221;off&#8221;][et_pb_row _builder_version=&#8221;3.25&#8243;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;3.25&#8243; custom_padding=&#8221;|||&#8221; custom_padding__hover=&#8221;|||&#8221;][et_pb_text _builder_version=&#8221;4.5.8&#8243; text_font=&#8221;||||||||&#8221; text_line_height=&#8221;2em&#8221; ul_font=&#8221;||||||||&#8221; ol_font=&#8221;||||||||&#8221; header_font=&#8221;||||||||&#8221; header_2_font=&#8221;Faustina|600|||||||&#8221; header_2_font_size=&#8221;42px&#8221; header_2_line_height=&#8221;1.4em&#8221; header_3_font=&#8221;||||||||&#8221; header_4_font=&#8221;||||||||&#8221; header_5_font=&#8221;||||||||&#8221; header_6_font=&#8221;||||||||&#8221; text_orientation=&#8221;center&#8221; background_layout=&#8221;dark&#8221; max_width=&#8221;600px&#8221; module_alignment=&#8221;center&#8221; header_2_font_size_tablet=&#8221;32px&#8221; header_2_font_size_phone=&#8221;22px&#8221; header_2_font_size_last_edited=&#8221;on|desktop&#8221; locked=&#8221;off&#8221;]<\/p>\n<h2>Entra in contatto. 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