{"id":7539,"date":"2026-01-06T19:23:42","date_gmt":"2026-01-06T19:23:42","guid":{"rendered":"https:\/\/cureclcn4.org\/novo-diagnostico\/"},"modified":"2026-01-06T19:23:45","modified_gmt":"2026-01-06T19:23:45","slug":"novo-diagnostico","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/pt-br\/novo-diagnostico\/","title":{"rendered":"Novo diagn\u00f3stico"},"content":{"rendered":"

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Novo diagn\u00f3stico – e agora?<\/h1>\n

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Ap\u00f3s o diagn\u00f3stico de uma doen\u00e7a gen\u00e9tica, como a CLCN4, \u00e9 normal sentir uma s\u00e9rie de emo\u00e7\u00f5es e os pais geralmente acham que a adapta\u00e7\u00e3o a um novo diagn\u00f3stico \u00e9 um momento muito desafiador de suas vidas. <\/p>\n

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\u00c9 importante saber que voc\u00ea n\u00e3o precisa percorrer essa jornada sozinho. Voc\u00ea pode se conectar com outros pais de crian\u00e7as com CLCN4 por meio do nosso grupo de apoio no Facebook<\/a> para que possa compartilhar hist\u00f3rias e saber o que ajudou outras crian\u00e7as e suas fam\u00edlias. <\/p>\n

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N\u00e3o percorra sua jornada CLCN4 sozinho<\/h2>\n

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Tamb\u00e9m \u00e9 muito importante que voc\u00ea saiba que, embora n\u00e3o tenhamos uma cura para a CLCN4 no momento, h\u00e1 apoio profissional dispon\u00edvel que far\u00e1 uma enorme diferen\u00e7a para a sa\u00fade, o desenvolvimento e o bem-estar futuros do seu filho. Interven\u00e7\u00f5es precoces, como fonoaudiologia, fisioterapia e terapia ocupacional, ajudar\u00e3o no desenvolvimento do seu filho e \u00e9 importante que voc\u00ea as inicie o mais r\u00e1pido poss\u00edvel. H\u00e1 terapias dispon\u00edveis para muitas das complica\u00e7\u00f5es, como epilepsia e dificuldades de sa\u00fade mental, que podem se desenvolver. O controle precoce da epilepsia pode fazer uma enorme diferen\u00e7a no desenvolvimento do seu filho a longo prazo. Para ter acesso \u00e0 melhor orienta\u00e7\u00e3o, \u00e9 importante encontrar a equipe certa de m\u00e9dicos e especialistas para dar suporte a voc\u00ea e ao seu filho: isso pode incluir especialistas como neurologista, oftalmologista, psiquiatra e ortopedista, al\u00e9m de um geneticista cl\u00ednico.
<\/strong><\/p>\n

Seu primeiro passo<\/strong>
Como primeiro passo, entre em contato com seu m\u00e9dico de fam\u00edlia ou pediatra e forne\u00e7a a ele o link para este site e para a p\u00e1gina de profissionais em nosso site<\/a> Human Disease Gene Webseries: onde eles podem se conectar diretamente com nossos especialistas cl\u00ednicos e cient\u00edficos, Dra. Emma Palmer e Dra. Vera Kalscheuer.<\/span><\/p>\n

Voc\u00ea pode encontrar mais informa\u00e7\u00f5es sobre o apoio e as pr\u00f3ximas etapas pr\u00e1ticas ap\u00f3s um diagn\u00f3stico gen\u00e9tico que afeta o aprendizado das crian\u00e7as aqui<\/a> (Reino Unido) ou aqui<\/a> \/ aqui<\/a> (Austr\u00e1lia) ou aqui<\/a> (EUA).<\/p>\n

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Participe do nosso registro de pacientes<\/h2>\n

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O CureCLCN4 foi criado para ajudar a apoiar pesquisas m\u00e9dicas para obter melhores tratamentos, apoio e, por fim, curas para todos os indiv\u00edduos com CLCN4. Uma primeira etapa importante para nos ajudar a atingir esses objetivos ser\u00e1 conseguir que o maior n\u00famero poss\u00edvel de fam\u00edlias com CLCN4 em todo o mundo se inscreva em nosso registro de pacientes. <\/p>\n

Os registros de pacientes podem beneficiar pessoas com doen\u00e7as gen\u00e9ticas raras, como a CLCN4, por tr\u00eas motivos principais: <\/p>\n

1. Os registros de pacientes podem melhorar o atendimento ao paciente.<\/strong>
Estamos construindo um registro de pacientes seguro, moderno e digital onde voc\u00ea poder\u00e1 contar a sua hist\u00f3ria ou a hist\u00f3ria do seu filho. Voc\u00ea ser\u00e1 convidado a preencher pesquisas que capturam sistematicamente o hist\u00f3rico, o momento e o impacto dos sintomas, bem como o impacto de quaisquer tratamentos. Os pesquisadores estar\u00e3o prontos e aguardando para analisar essas informa\u00e7\u00f5es e repass\u00e1-las \u00e0 nossa comunidade, para nos ajudar a aprender juntos mais sobre quais tratamentos obt\u00eam os melhores resultados e em quais situa\u00e7\u00f5es. Quanto mais compartilharmos, mais informa\u00e7\u00f5es estar\u00e3o dispon\u00edveis para ajudar nossos filhos e outros que vir\u00e3o. <\/p>\n

2. Os registros amplificam sua voz.
<\/strong>Nosso registro tamb\u00e9m pedir\u00e1 que voc\u00ea d\u00ea seu ponto de vista sobre assuntos importantes sobre voc\u00ea ou seu filho! Por exemplo, solicitando sua opini\u00e3o sobre quais sintomas s\u00e3o mais importantes para encontrar tratamentos ou sobre quais tratamentos existentes voc\u00ea gostaria que houvesse mais informa\u00e7\u00f5es. Compartilhar o seu ponto de vista \u00e9 extremamente poderoso, pois ajuda as ag\u00eancias de financiamento de pesquisa, as empresas farmac\u00eauticas, as ag\u00eancias reguladoras e as nossas organiza\u00e7\u00f5es de pacientes a aprender como melhor atender \u00e0s suas necessidades. Exigir que os pesquisadores ou\u00e7am e atendam aos interesses do paciente est\u00e1 se tornando cada vez mais comum antes que o financiamento seja obtido ou que os medicamentos sejam aprovados. <\/span><\/p>\n

3. Os registros aumentam as chances de desenvolvimento de medicamentos.<\/strong>
N\u00e3o h\u00e1 como evitar, o desenvolvimento de medicamentos \u00e9 dif\u00edcil, demorado e caro. As empresas farmac\u00eauticas se sentem muito mais atra\u00eddas a desenvolver novas terapias para comunidades de doen\u00e7as raras que j\u00e1 possuem registros de doen\u00e7as raras com dados \u00fateis. Por exemplo, perguntaremos se voc\u00ea gostaria de optar por receber informa\u00e7\u00f5es sobre novos ensaios cl\u00ednicos, pois saber disso poupar\u00e1 muito tempo e dinheiro \u00e0s empresas farmac\u00eauticas. As empresas farmac\u00eauticas precisam de dados e estat\u00edsticas de pesquisas de registros para obter a aprova\u00e7\u00e3o e o financiamento do governo para o desenvolvimento de medicamentos e, por fim, a aprova\u00e7\u00e3o de novas terapias. <\/p>\n

Portanto, incentivamos voc\u00ea a registrar seu interesse em nosso registro de pacientes, que est\u00e1 sendo desenvolvido atualmente, e a optar por receber informa\u00e7\u00f5es sobre pesquisas e estudos cl\u00ednicos futuros aqui.<\/p>\n

 <\/p>\n

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Entre em contacto. Envolver-se.<\/h2>\n

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custom_margin=”|6px||6px||true” custom_padding=”8px|8px|8px|8px|true|true” hover_enabled=”0″ follow_button=”off” url_new_window=”on” sticky_enabled=”0″]facebook[\/et_pb_social_media_follow_network][et_pb_social_media_follow_network social_network=”linkedin” url=”https:\/\/uk.linkedin.com\/company\/cure-clcn4?trk=public_profile_experience-item_result-card_image-click” _builder_version=”4.5.8″ _module_preset=”default” background_color=”rgba(255,255,255,0.2)” custom_margin=”|6px||6px|false|false” custom_padding=”8px|8px|8px|8px|false|false” follow_button=”off” url_new_window=”on”]linkedin[\/et_pb_social_media_follow_network][\/et_pb_social_media_follow][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"

Ap\u00f3s o diagn\u00f3stico de uma doen\u00e7a gen\u00e9tica, como a CLCN4, \u00e9 normal sentir uma s\u00e9rie de emo\u00e7\u00f5es e os pais geralmente acham que a adapta\u00e7\u00e3o a um novo diagn\u00f3stico \u00e9 um momento muito desafiador de suas vidas.<\/p>\n","protected":false},"author":1,"featured_media":0,"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-7539","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/pages\/7539","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/comments?post=7539"}],"version-history":[{"count":4,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/pages\/7539\/revisions"}],"predecessor-version":[{"id":7544,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/pages\/7539\/revisions\/7544"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/media?parent=7539"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}