{"id":60811,"date":"2022-04-12T00:00:00","date_gmt":"2022-04-11T22:00:00","guid":{"rendered":"https:\/\/llyc.global\/2022\/04\/12\/doencas-raras-mais-informacao-para-mobilizacao-social\/"},"modified":"2025-02-24T13:44:02","modified_gmt":"2025-02-24T12:44:02","slug":"doencas-raras-mais-informacao-para-mobilizacao-social","status":"publish","type":"post","link":"https:\/\/llyc.global\/pt-br\/ideas\/doencas-raras-mais-informacao-para-mobilizacao-social\/","title":{"rendered":"DOEN\u00c7AS RARAS: MAIS INFORMA\u00c7\u00c3O PARA MOBILIZA\u00c7\u00c3O SOCIAL"},"content":{"rendered":"

[et_pb_section bb_built=”1″ inner_width=”auto” inner_max_width=”none”][et_pb_row][et_pb_column type=”4_4″ custom_padding__hover=”|||” custom_padding=”|||”][et_pb_text admin_label=”INTRODUCCI\u00d3N” _builder_version=”4.4.8″ text_text_shadow_horizontal_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_horizontal_length_tablet=”0px” text_text_shadow_vertical_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_vertical_length_tablet=”0px” text_text_shadow_blur_strength=”text_text_shadow_style,%91object Object%93″ text_text_shadow_blur_strength_tablet=”1px” link_text_shadow_horizontal_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_horizontal_length_tablet=”0px” link_text_shadow_vertical_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_vertical_length_tablet=”0px” link_text_shadow_blur_strength=”link_text_shadow_style,%91object Object%93″ link_text_shadow_blur_strength_tablet=”1px” ul_text_shadow_horizontal_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_horizontal_length_tablet=”0px” ul_text_shadow_vertical_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_vertical_length_tablet=”0px” ul_text_shadow_blur_strength=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_blur_strength_tablet=”1px” ol_text_shadow_horizontal_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_horizontal_length_tablet=”0px” ol_text_shadow_vertical_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_vertical_length_tablet=”0px” ol_text_shadow_blur_strength=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_blur_strength_tablet=”1px” quote_text_shadow_horizontal_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_horizontal_length_tablet=”0px” quote_text_shadow_vertical_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_vertical_length_tablet=”0px” quote_text_shadow_blur_strength=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_blur_strength_tablet=”1px” header_text_shadow_horizontal_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_horizontal_length_tablet=”0px” header_text_shadow_vertical_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_vertical_length_tablet=”0px” header_text_shadow_blur_strength=”header_text_shadow_style,%91object Object%93″ header_text_shadow_blur_strength_tablet=”1px” header_2_text_shadow_horizontal_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_horizontal_length_tablet=”0px” header_2_text_shadow_vertical_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_vertical_length_tablet=”0px” header_2_text_shadow_blur_strength=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_blur_strength_tablet=”1px” header_3_text_shadow_horizontal_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_horizontal_length_tablet=”0px” header_3_text_shadow_vertical_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_vertical_length_tablet=”0px” header_3_text_shadow_blur_strength=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_blur_strength_tablet=”1px” header_4_text_shadow_horizontal_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_horizontal_length_tablet=”0px” header_4_text_shadow_vertical_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_vertical_length_tablet=”0px” header_4_text_shadow_blur_strength=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_blur_strength_tablet=”1px” header_5_text_shadow_horizontal_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_horizontal_length_tablet=”0px” header_5_text_shadow_vertical_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_vertical_length_tablet=”0px” header_5_text_shadow_blur_strength=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_blur_strength_tablet=”1px” header_6_text_shadow_horizontal_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_horizontal_length_tablet=”0px” header_6_text_shadow_vertical_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_vertical_length_tablet=”0px” header_6_text_shadow_blur_strength=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_blur_strength_tablet=”1px” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ z_index_tablet=”0″]<\/p>\n

INTRODU\u00c7\u00c3O<\/strong><\/h2>\n

<\/a><\/p>\n

As doen\u00e7as raras s\u00e3o caracterizadas por uma ampla diversidade de sinais e sintomas e variam n\u00e3o s\u00f3 de doen\u00e7a para doen\u00e7a, mas tamb\u00e9m de pessoa para pessoa acometida. Elas atingem aproximadamente de 6% a 8% da popula\u00e7\u00e3o mundial.<\/strong> Considerando os dados da Organiza\u00e7\u00e3o Mundial de Sa\u00fade (OMS), estima-se que haja no mundo\u00a0400 milh\u00f5es de pessoas com algum tipo de Doen\u00e7a Rara<\/strong>\u00a0em cada 7 bilh\u00f5es de indiv\u00edduos. Apesar dessa defini\u00e7\u00e3o, cada pa\u00eds possui uma forma diferente de analisar estatisticamente seus dados e, assim, mensurar a quantidade proporcional que a sua popula\u00e7\u00e3o \u00e9 atingida.<\/p>\n

Os Estados Unidos entendem que 1 em cada 1.500 pessoas possui uma doen\u00e7a considerada rara.\u00a0 O Jap\u00e3o considera que 1 em cada 2.500 pessoas \u00e9 afetada. J\u00e1 o continente Europeu tem sua an\u00e1lise dividida entre os dois pa\u00edses citados acima, pois eles consideram que 1 em cada 2.000 indiv\u00edduos possui alguma doen\u00e7a rara. Mensura-se, ainda, que na\u00a0Uni\u00e3o Europeia h\u00e1 cerca de 30 milh\u00f5es de cidad\u00e3os com alguma enfermidade rara. <\/strong>Para a Organiza\u00e7\u00e3o Mundial de Sa\u00fade (OMS), s\u00e3o doen\u00e7as raras aquelas que afetam at\u00e9 65 pessoas em cada grupo de 100 mil indiv\u00edduos. No entanto, estima-se que esse n\u00famero seja ainda maior considerando o avan\u00e7o da popula\u00e7\u00e3o. No\u00a0Brasil<\/strong>, o n\u00famero chega a\u00a013 milh\u00f5es de pessoas diagnosticadas<\/strong>\u00a0com alguma das 8 mil varia\u00e7\u00f5es de doen\u00e7as conhecidas nesse quadrante.<\/p>\n

Quando observados em \u00e2mbito global, os n\u00fameros s\u00e3o expressivos e preocupantes. Mas o cen\u00e1rio pode ser alterado com a\u00e7\u00f5es do poder p\u00fablico e da sociedade organizada, conforme sugere pesquisa da associa\u00e7\u00e3o Amigos M\u00faltiplos pela Esclerose (AME<\/strong>): \u201cRadar dos Raros, o atual cen\u00e1rio das doen\u00e7as raras no Congresso Nacional\u201d. A an\u00e1lise deste estudo demonstra a necessidade de cria\u00e7\u00e3o de pol\u00edticas p\u00fablicas estruturantes locais para doen\u00e7as raras, tendo o legislativo brasileiro um papel relevante neste contexto.<\/p>\n

<\/a><\/p>\n

[\/et_pb_text][et_pb_image admin_label=”Imagen I” _builder_version=”4.4.8″ src=”https:\/\/ideasbr.llorenteycuenca.com\/wp-content\/uploads\/sites\/8\/2022\/04\/Mesa-de-trabajo-19-e1649710840415.png” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ z_index_tablet=”0″ align=”center” \/][et_pb_image admin_label=”Imagen I” _builder_version=”4.4.8″ box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ z_index_tablet=”0″ align=”center” src=”https:\/\/ideasbr.llorenteycuenca.com\/wp-content\/uploads\/sites\/8\/2022\/04\/Mesa-de-trabajo-19-e1649710840415.png” \/][et_pb_text admin_label=”QU\u00c9 DICEN LAS CIFRAS” _builder_version=”4.4.8″ text_text_shadow_horizontal_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_horizontal_length_tablet=”0px” text_text_shadow_vertical_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_vertical_length_tablet=”0px” text_text_shadow_blur_strength=”text_text_shadow_style,%91object Object%93″ text_text_shadow_blur_strength_tablet=”1px” link_text_shadow_horizontal_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_horizontal_length_tablet=”0px” link_text_shadow_vertical_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_vertical_length_tablet=”0px” link_text_shadow_blur_strength=”link_text_shadow_style,%91object Object%93″ link_text_shadow_blur_strength_tablet=”1px” ul_text_shadow_horizontal_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_horizontal_length_tablet=”0px” ul_text_shadow_vertical_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_vertical_length_tablet=”0px” ul_text_shadow_blur_strength=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_blur_strength_tablet=”1px” ol_text_shadow_horizontal_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_horizontal_length_tablet=”0px” ol_text_shadow_vertical_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_vertical_length_tablet=”0px” ol_text_shadow_blur_strength=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_blur_strength_tablet=”1px” quote_text_shadow_horizontal_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_horizontal_length_tablet=”0px” quote_text_shadow_vertical_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_vertical_length_tablet=”0px” quote_text_shadow_blur_strength=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_blur_strength_tablet=”1px” header_text_shadow_horizontal_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_horizontal_length_tablet=”0px” header_text_shadow_vertical_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_vertical_length_tablet=”0px” header_text_shadow_blur_strength=”header_text_shadow_style,%91object Object%93″ header_text_shadow_blur_strength_tablet=”1px” header_2_text_shadow_horizontal_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_horizontal_length_tablet=”0px” header_2_text_shadow_vertical_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_vertical_length_tablet=”0px” header_2_text_shadow_blur_strength=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_blur_strength_tablet=”1px” header_3_text_shadow_horizontal_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_horizontal_length_tablet=”0px” header_3_text_shadow_vertical_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_vertical_length_tablet=”0px” header_3_text_shadow_blur_strength=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_blur_strength_tablet=”1px” header_4_text_shadow_horizontal_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_horizontal_length_tablet=”0px” header_4_text_shadow_vertical_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_vertical_length_tablet=”0px” header_4_text_shadow_blur_strength=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_blur_strength_tablet=”1px” header_5_text_shadow_horizontal_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_horizontal_length_tablet=”0px” header_5_text_shadow_vertical_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_vertical_length_tablet=”0px” header_5_text_shadow_blur_strength=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_blur_strength_tablet=”1px” header_6_text_shadow_horizontal_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_horizontal_length_tablet=”0px” header_6_text_shadow_vertical_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_vertical_length_tablet=”0px” header_6_text_shadow_blur_strength=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_blur_strength_tablet=”1px” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ z_index_tablet=”0″]<\/p>\n

O QUE DIZEM OS N\u00daMEROS<\/strong><\/h2>\n

A pesquisa retrospectiva prim\u00e1ria, com base no banco de dados do congresso nacional, que engloba o per\u00edodo entre janeiro de 2000 a dezembro de 2021, mostra que em duas d\u00e9cadas, as duas casas legislativas registraram juntas 6.400 proposi\u00e7\u00f5es relacionadas ao setor de Sa\u00fade. Entre elas, 199 fizeram refer\u00eancia direta a doen\u00e7as raras: 167 na C\u00e2mara dos Deputados e 32 no Senado Federal. Desse montante, apenas 8 foram aprovadas e 159 permanecem em tramita\u00e7\u00e3o.\u00a0Esse<\/strong>\u00a0n\u00famero direcionado para doen\u00e7as raras representa apenas 3% dos projetos de lei sugeridos no setor<\/strong>.<\/p>\n

Apesar da baixa produ\u00e7\u00e3o de proposi\u00e7\u00f5es, chama a aten\u00e7\u00e3o o\u00a0crescente interesse<\/strong>\u00a0dos congressistas pelo tema. Enquanto nos\u00a0primeiros cinco anos do mil\u00eanio<\/strong>, deputados e senadores\u00a0apresentaram somente 11 projetos<\/strong>\u00a0de lei em defesa das necessidades dos pacientes com doen\u00e7as raras,\u00a0de 2016 para c\u00e1 foram registrados 130<\/strong>. O pico ocorreu a partir de 2019, ano de cria\u00e7\u00e3o da Frente Parlamentar de Doen\u00e7as Raras na C\u00e2mara dos Deputados e da Subcomiss\u00e3o de Doen\u00e7as Raras no Senado Federal<\/strong>, o que faz crer que a informa\u00e7\u00e3o gerada nos colegiados contribuiu para ampliar o n\u00edvel de conhecimento dos parlamentares sobre os problemas que afligem os doentes raros, aumentando tamb\u00e9m o engajamento na busca de solu\u00e7\u00f5es para as quest\u00f5es mais urgentes e de propostas de pol\u00edticas mais efetivas.\u00a0Dos 199 projetos de lei apresentados, 105 referem-se \u00e0 cria\u00e7\u00e3o de pol\u00edticas ou programas espec\u00edficos de aten\u00e7\u00e3o \u00e0s doen\u00e7as raras<\/strong>; 81 abordam quest\u00f5es tribut\u00e1rias, judicializa\u00e7\u00f5es e direitos de doentes raros; 8 pretendem alterar legisla\u00e7\u00f5es associadas \u00e0 Ag\u00eancia Nacional de Vigil\u00e2ncia Sanit\u00e1ria (Anvisa); 2 prop\u00f5em incentivos ou regulamentam pesquisas relacionadas a essas enfermidades; e 3 avaliam tecnologias utilizadas nos tratamentos. Esses dados refletem a necessidade de aten\u00e7\u00e3o emergencial para esses pacientes.<\/p>\n

<\/a><\/p>\n

<\/a><\/p>\n

[\/et_pb_text][et_pb_text admin_label=”C\u00d3MO CAMBIAR EL ESCENARIO DE LAS ENFERMEDADES RARAS EN BRASIL” _builder_version=”4.4.8″ text_text_shadow_horizontal_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_horizontal_length_tablet=”0px” text_text_shadow_vertical_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_vertical_length_tablet=”0px” text_text_shadow_blur_strength=”text_text_shadow_style,%91object Object%93″ text_text_shadow_blur_strength_tablet=”1px” link_text_shadow_horizontal_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_horizontal_length_tablet=”0px” link_text_shadow_vertical_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_vertical_length_tablet=”0px” link_text_shadow_blur_strength=”link_text_shadow_style,%91object Object%93″ link_text_shadow_blur_strength_tablet=”1px” ul_text_shadow_horizontal_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_horizontal_length_tablet=”0px” ul_text_shadow_vertical_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_vertical_length_tablet=”0px” ul_text_shadow_blur_strength=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_blur_strength_tablet=”1px” ol_text_shadow_horizontal_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_horizontal_length_tablet=”0px” ol_text_shadow_vertical_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_vertical_length_tablet=”0px” ol_text_shadow_blur_strength=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_blur_strength_tablet=”1px” quote_text_shadow_horizontal_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_horizontal_length_tablet=”0px” quote_text_shadow_vertical_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_vertical_length_tablet=”0px” quote_text_shadow_blur_strength=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_blur_strength_tablet=”1px” header_text_shadow_horizontal_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_horizontal_length_tablet=”0px” header_text_shadow_vertical_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_vertical_length_tablet=”0px” header_text_shadow_blur_strength=”header_text_shadow_style,%91object Object%93″ header_text_shadow_blur_strength_tablet=”1px” header_2_text_shadow_horizontal_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_horizontal_length_tablet=”0px” header_2_text_shadow_vertical_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_vertical_length_tablet=”0px” header_2_text_shadow_blur_strength=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_blur_strength_tablet=”1px” header_3_text_shadow_horizontal_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_horizontal_length_tablet=”0px” header_3_text_shadow_vertical_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_vertical_length_tablet=”0px” header_3_text_shadow_blur_strength=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_blur_strength_tablet=”1px” header_4_text_shadow_horizontal_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_horizontal_length_tablet=”0px” header_4_text_shadow_vertical_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_vertical_length_tablet=”0px” header_4_text_shadow_blur_strength=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_blur_strength_tablet=”1px” header_5_text_shadow_horizontal_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_horizontal_length_tablet=”0px” header_5_text_shadow_vertical_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_vertical_length_tablet=”0px” header_5_text_shadow_blur_strength=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_blur_strength_tablet=”1px” header_6_text_shadow_horizontal_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_horizontal_length_tablet=”0px” header_6_text_shadow_vertical_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_vertical_length_tablet=”0px” header_6_text_shadow_blur_strength=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_blur_strength_tablet=”1px” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ z_index_tablet=”0″]<\/p>\n

COMO MUDAR O CEN\u00c1RIO RARO NO BRASIL<\/strong><\/h2>\n

Segundo a Associa\u00e7\u00e3o Amigos M\u00faltiplos da Esclerose \u2013 AME, cabe \u00e0s casas legislativas um olhar mais atento \u00e0s necessidades dos pacientes raros para mudar o cen\u00e1rio atual, e isso inclui:<\/p>\n

\u2013 ACESSO ADEQUADO \u00c0 SA\u00daDE<\/strong><\/p>\n

Muitos pacientes acometidos por estas graves e raras morbidades n\u00e3o conseguem acesso adequado \u00e0 sa\u00fade e assist\u00eancia m\u00e9dica devido \u00e0 falta de pol\u00edticas p\u00fablicas estruturadas.<\/p>\n

\u2013 NECESSIDADE DO CONGRESSO NACIONAL MAIS ATIVO<\/strong><\/p>\n

O Congresso Nacional tem papel fundamental na formula\u00e7\u00e3o de pol\u00edticas p\u00fablicas de sa\u00fade e de estimular os debates em torno das quest\u00f5es que envolvem as doen\u00e7as raras.<\/p>\n

\u2013 CEN\u00c1RIO COMPLEXO<\/strong><\/p>\n

O cen\u00e1rio das doen\u00e7as raras \u00e9 preocupante no Brasil. S\u00e3o poucas as enfermidades raras que possuem protocolo cl\u00ednico de diretrizes terap\u00eauticas (PCDT), guia de cuidado que visa garantir o melhor cuidado \u00e0 sa\u00fade, realmente efetivo. Al\u00e9m disso, por mais que os movimentos de conscientiza\u00e7\u00e3o sobre essas doen\u00e7as tenham ganhado espa\u00e7o na sociedade, ainda h\u00e1 um desconhecimento significativo da popula\u00e7\u00e3o, principalmente em rela\u00e7\u00e3o \u00e0s doen\u00e7as \u00f3rf\u00e3s. Nesse contexto, existe a necessidade de a\u00e7\u00f5es do poder p\u00fablico e da sociedade organizada para viabilizar pol\u00edticas p\u00fablicas estruturadas para doen\u00e7as raras, permitindo o real acesso \u00e0 sa\u00fade e melhora da qualidade de vida aos portadores dessas condi\u00e7\u00f5es.<\/p>\n

\u2013 AMPLIA\u00c7\u00c3O DE POL\u00cdTICAS P\u00daBLICAS<\/strong><\/p>\n

Cabe \u00e0s casas legislativas ampliar a formula\u00e7\u00e3o de pol\u00edticas p\u00fablicas de sa\u00fade e estimular os debates em torno das quest\u00f5es que envolvem as doen\u00e7as raras.<\/p>\n

\u2013 ENGAJAMENTO SOCIAL<\/strong><\/p>\n

A fibrose c\u00edstica, por exemplo, pode ser considerada uma refer\u00eancia positiva e espelho para formula\u00e7\u00e3o de pol\u00edticas p\u00fablicas que atendam \u00e0s necessidades dos quase 13 milh\u00f5es de brasileiros acometidos por algum tipo de doen\u00e7a rara.<\/p>\n

[\/et_pb_text][et_pb_text admin_label=”DECISI\u00d3N HIST\u00d3RICA” _builder_version=”4.4.8″ text_text_shadow_horizontal_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_horizontal_length_tablet=”0px” text_text_shadow_vertical_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_vertical_length_tablet=”0px” text_text_shadow_blur_strength=”text_text_shadow_style,%91object Object%93″ text_text_shadow_blur_strength_tablet=”1px” link_text_shadow_horizontal_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_horizontal_length_tablet=”0px” link_text_shadow_vertical_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_vertical_length_tablet=”0px” link_text_shadow_blur_strength=”link_text_shadow_style,%91object Object%93″ link_text_shadow_blur_strength_tablet=”1px” ul_text_shadow_horizontal_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_horizontal_length_tablet=”0px” ul_text_shadow_vertical_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_vertical_length_tablet=”0px” ul_text_shadow_blur_strength=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_blur_strength_tablet=”1px” ol_text_shadow_horizontal_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_horizontal_length_tablet=”0px” ol_text_shadow_vertical_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_vertical_length_tablet=”0px” ol_text_shadow_blur_strength=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_blur_strength_tablet=”1px” quote_text_shadow_horizontal_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_horizontal_length_tablet=”0px” quote_text_shadow_vertical_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_vertical_length_tablet=”0px” quote_text_shadow_blur_strength=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_blur_strength_tablet=”1px” header_text_shadow_horizontal_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_horizontal_length_tablet=”0px” header_text_shadow_vertical_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_vertical_length_tablet=”0px” header_text_shadow_blur_strength=”header_text_shadow_style,%91object Object%93″ header_text_shadow_blur_strength_tablet=”1px” header_2_text_shadow_horizontal_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_horizontal_length_tablet=”0px” header_2_text_shadow_vertical_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_vertical_length_tablet=”0px” header_2_text_shadow_blur_strength=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_blur_strength_tablet=”1px” header_3_text_shadow_horizontal_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_horizontal_length_tablet=”0px” header_3_text_shadow_vertical_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_vertical_length_tablet=”0px” header_3_text_shadow_blur_strength=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_blur_strength_tablet=”1px” header_4_text_shadow_horizontal_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_horizontal_length_tablet=”0px” header_4_text_shadow_vertical_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_vertical_length_tablet=”0px” header_4_text_shadow_blur_strength=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_blur_strength_tablet=”1px” header_5_text_shadow_horizontal_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_horizontal_length_tablet=”0px” header_5_text_shadow_vertical_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_vertical_length_tablet=”0px” header_5_text_shadow_blur_strength=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_blur_strength_tablet=”1px” header_6_text_shadow_horizontal_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_horizontal_length_tablet=”0px” header_6_text_shadow_vertical_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_vertical_length_tablet=”0px” header_6_text_shadow_blur_strength=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_blur_strength_tablet=”1px” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ z_index_tablet=”0″]<\/p>\n

DECIS\u00c3O HIST\u00d3RICA<\/strong><\/h2>\n

<\/a><\/p>\n

Em dezembro de 2021, em uma\u00a0decis\u00e3o hist\u00f3rica<\/strong>, a Assembleia Geral das Na\u00e7\u00f5es Unidas adotou formalmente, a resolu\u00e7\u00e3o intitulada\u00a0Enfrentando os desafios das pessoas que vivem com uma doen\u00e7a rara e de suas fam\u00edlias<\/em><\/strong><\/a>[i]<\/a>. Agora, os\u00a0193 Estados-membros da ONU<\/strong>\u00a0convocam todos os pa\u00edses do mundo a\u00a0fortalecer seus sistemas de sa\u00fade<\/strong>, especialmente em termos de aten\u00e7\u00e3o prim\u00e1ria, para fornecer acesso universal a uma ampla gama de servi\u00e7os que sejam seguros, de qualidade, acess\u00edveis, dispon\u00edveis e integrados cl\u00ednica e financeiramente.<\/p>\n

Quando a ONU traz isso como resolu\u00e7\u00e3o, fortalece e traz a tem\u00e1tica para a incorpora\u00e7\u00e3o e tomada de decis\u00e3o entre os pa\u00edses, inclusive o Brasil. Localmente, o\u00a0Governo Federal<\/strong>\u00a0lan\u00e7ou em mar\u00e7o de 2022 a caderneta do\u00a0Sistema \u00danico de Sa\u00fade (SUS)<\/strong>\u00a0para pessoas com doen\u00e7as raras. Segundo o Minist\u00e9rio da Sa\u00fade, al\u00e9m de trazer os principais sinais e alertas que podem indicar a exist\u00eancia de uma doen\u00e7a rara, o documento traz informa\u00e7\u00f5es sobre tratamentos multidisciplinares e dicas para uma vida mais saud\u00e1vel. Na caderneta, ficar\u00e3o registradas informa\u00e7\u00f5es sobre atendimento nos servi\u00e7os de sa\u00fade, de educa\u00e7\u00e3o e de assist\u00eancia multidisciplinar, e servir\u00e1 para o acompanhamento do paciente durante toda a sua vida.<\/p>\n

E, ainda, o Governo Federal, tamb\u00e9m implementou a\u00a0Linha de Cuidado<\/strong>\u00a0para pessoas com condi\u00e7\u00f5es raras, importante\u00a0instrumento de apoio \u00e0s Redes de Aten\u00e7\u00e3o \u00e0 Sa\u00fade<\/strong>\u00a0\u2013 prim\u00e1ria e especializada -, com objetivo de ordenar o fluxo assistencial, al\u00e9m de integrar e articular todos os pontos de aten\u00e7\u00e3o. A iniciativa estabelece as interven\u00e7\u00f5es a serem realizadas em cada ponto de aten\u00e7\u00e3o, envolvendo promo\u00e7\u00e3o, preven\u00e7\u00e3o, tratamento, reabilita\u00e7\u00e3o e cuidados continuados, conforme a necessidade de cada caso.<\/p>\n

Dessa forma, ser\u00e1 poss\u00edvel acompanhar a entrada da pessoa com doen\u00e7as raras nos servi\u00e7os de sa\u00fade, analisar sinais de alerta para diagn\u00f3stico, prestar orienta\u00e7\u00f5es do tratamento, atender \u00e0s principais necessidades individuais, promover qualidade de vida e oferecer os cuidados continuados. O atendimento \u00e9 multidisciplinar e interdisciplinar, envolvendo todos os n\u00edveis de aten\u00e7\u00e3o \u00e0 sa\u00fade, sendo a Aten\u00e7\u00e3o Prim\u00e1ria \u00e0 Sa\u00fade a porta priorit\u00e1ria de entrada para o SUS. O Ministro da Sa\u00fade em exerc\u00edcio,\u00a0Marcelo Queiroga<\/strong>,\u00a0disse que a pasta investiu, desde 2019, cerca de R$ 3,8 bilh\u00f5es em recursos para atender, no Sistema \u00danico de Sa\u00fade, pacientes com doen\u00e7as raras<\/strong>.<\/p>\n

<\/a><\/p>\n

[\/et_pb_text][et_pb_text admin_label=”Destacado” _builder_version=”4.4.8″ text_text_shadow_horizontal_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_horizontal_length_tablet=”0px” text_text_shadow_vertical_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_vertical_length_tablet=”0px” text_text_shadow_blur_strength=”text_text_shadow_style,%91object Object%93″ text_text_shadow_blur_strength_tablet=”1px” link_text_shadow_horizontal_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_horizontal_length_tablet=”0px” link_text_shadow_vertical_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_vertical_length_tablet=”0px” link_text_shadow_blur_strength=”link_text_shadow_style,%91object Object%93″ link_text_shadow_blur_strength_tablet=”1px” ul_text_shadow_horizontal_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_horizontal_length_tablet=”0px” ul_text_shadow_vertical_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_vertical_length_tablet=”0px” ul_text_shadow_blur_strength=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_blur_strength_tablet=”1px” ol_text_shadow_horizontal_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_horizontal_length_tablet=”0px” ol_text_shadow_vertical_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_vertical_length_tablet=”0px” ol_text_shadow_blur_strength=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_blur_strength_tablet=”1px” quote_text_shadow_horizontal_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_horizontal_length_tablet=”0px” quote_text_shadow_vertical_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_vertical_length_tablet=”0px” quote_text_shadow_blur_strength=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_blur_strength_tablet=”1px” header_text_shadow_horizontal_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_horizontal_length_tablet=”0px” header_text_shadow_vertical_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_vertical_length_tablet=”0px” header_text_shadow_blur_strength=”header_text_shadow_style,%91object Object%93″ header_text_shadow_blur_strength_tablet=”1px” header_2_text_shadow_horizontal_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_horizontal_length_tablet=”0px” header_2_text_shadow_vertical_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_vertical_length_tablet=”0px” header_2_text_shadow_blur_strength=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_blur_strength_tablet=”1px” header_3_text_shadow_horizontal_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_horizontal_length_tablet=”0px” header_3_text_shadow_vertical_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_vertical_length_tablet=”0px” header_3_text_shadow_blur_strength=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_blur_strength_tablet=”1px” header_4_text_shadow_horizontal_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_horizontal_length_tablet=”0px” header_4_text_shadow_vertical_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_vertical_length_tablet=”0px” header_4_text_shadow_blur_strength=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_blur_strength_tablet=”1px” header_5_text_shadow_horizontal_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_horizontal_length_tablet=”0px” header_5_text_shadow_vertical_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_vertical_length_tablet=”0px” header_5_text_shadow_blur_strength=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_blur_strength_tablet=”1px” header_6_text_shadow_horizontal_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_horizontal_length_tablet=”0px” header_6_text_shadow_vertical_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_vertical_length_tablet=”0px” header_6_text_shadow_blur_strength=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_blur_strength_tablet=”1px” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ z_index_tablet=”0″ background_color=”#e6eef4″ custom_margin=”60px|60px|60px|60px” custom_padding=”30px|30px|30px|30px”]<\/p>\n

<\/h2>\n

“Marcelo Queiroga<\/strong>,\u00a0disse que a pasta investiu, desde 2019, cerca de R$ 3,8 bilh\u00f5es em recursos para atender, no Sistema \u00danico de Sa\u00fade, pacientes com doen\u00e7as raras<\/strong>.”<\/h2>\n

<\/h2>\n

[\/et_pb_text][et_pb_text admin_label=”DECISI\u00d3N HIST\u00d3RICA 2″ _builder_version=”4.4.8″ text_text_shadow_horizontal_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_horizontal_length_tablet=”0px” text_text_shadow_vertical_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_vertical_length_tablet=”0px” text_text_shadow_blur_strength=”text_text_shadow_style,%91object Object%93″ text_text_shadow_blur_strength_tablet=”1px” link_text_shadow_horizontal_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_horizontal_length_tablet=”0px” link_text_shadow_vertical_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_vertical_length_tablet=”0px” link_text_shadow_blur_strength=”link_text_shadow_style,%91object Object%93″ link_text_shadow_blur_strength_tablet=”1px” ul_text_shadow_horizontal_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_horizontal_length_tablet=”0px” ul_text_shadow_vertical_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_vertical_length_tablet=”0px” ul_text_shadow_blur_strength=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_blur_strength_tablet=”1px” ol_text_shadow_horizontal_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_horizontal_length_tablet=”0px” ol_text_shadow_vertical_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_vertical_length_tablet=”0px” ol_text_shadow_blur_strength=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_blur_strength_tablet=”1px” quote_text_shadow_horizontal_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_horizontal_length_tablet=”0px” quote_text_shadow_vertical_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_vertical_length_tablet=”0px” quote_text_shadow_blur_strength=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_blur_strength_tablet=”1px” header_text_shadow_horizontal_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_horizontal_length_tablet=”0px” header_text_shadow_vertical_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_vertical_length_tablet=”0px” header_text_shadow_blur_strength=”header_text_shadow_style,%91object Object%93″ header_text_shadow_blur_strength_tablet=”1px” header_2_text_shadow_horizontal_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_horizontal_length_tablet=”0px” header_2_text_shadow_vertical_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_vertical_length_tablet=”0px” header_2_text_shadow_blur_strength=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_blur_strength_tablet=”1px” header_3_text_shadow_horizontal_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_horizontal_length_tablet=”0px” header_3_text_shadow_vertical_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_vertical_length_tablet=”0px” header_3_text_shadow_blur_strength=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_blur_strength_tablet=”1px” header_4_text_shadow_horizontal_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_horizontal_length_tablet=”0px” header_4_text_shadow_vertical_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_vertical_length_tablet=”0px” header_4_text_shadow_blur_strength=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_blur_strength_tablet=”1px” header_5_text_shadow_horizontal_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_horizontal_length_tablet=”0px” header_5_text_shadow_vertical_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_vertical_length_tablet=”0px” header_5_text_shadow_blur_strength=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_blur_strength_tablet=”1px” header_6_text_shadow_horizontal_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_horizontal_length_tablet=”0px” header_6_text_shadow_vertical_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_vertical_length_tablet=”0px” header_6_text_shadow_blur_strength=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_blur_strength_tablet=”1px” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ z_index_tablet=”0″]<\/p>\n

H\u00e1 tamb\u00e9m outros\u00a0avan\u00e7os recentes<\/strong>. \u00c9 o caso da Lei n\u00ba 14.154, que inclui o rastreamento de algumas doen\u00e7as no Programa Nacional de Triagem Neonatal (PNTN) oferecido pelo SUS. A amplia\u00e7\u00e3o beneficiar\u00e1 outros 14 grupos de doen\u00e7as, passando de 6 para 53 tipos diferentes de enfermidades e condi\u00e7\u00f5es espec\u00edficas de sa\u00fade testadas, que ser\u00e3o incorporadas gradualmente em cinco etapas.. Tamb\u00e9m n\u00e3o podemos deixar de mencionar a portaria 199, publica\u00e7ada em janeiro de 2014, uma pol\u00edtica p\u00fablica de estado que, em linhas gerais, \u201cInstitui a Pol\u00edtica Nacional de Aten\u00e7\u00e3o Integral \u00e0s Pessoas com Doen\u00e7as Raras, aprova as Diretrizes para Aten\u00e7\u00e3o Integral \u00e0s Pessoas com Doen\u00e7as Raras no \u00e2mbito do Sistema \u00danico de Sa\u00fade e institui incentivos financeiros de custeio.\u201d<\/p>\n

O fato do Brasil at\u00e9 2014 n\u00e3o possuir uma pol\u00edtica oficial espec\u00edfica para doen\u00e7as raras, n\u00e3o significa que os pacientes n\u00e3o recebam cuidados e tratamento. Conforme informa o Brasil Escola, os medicamentos acabam chegando at\u00e9 eles, na maioria por via judicial. E o SUS, de uma maneira ou de outra, atende essas pessoas. Por\u00e9m, de forma fragmentada, sem planejamento, com grande desperd\u00edcio de recursos p\u00fablicos e poss\u00edveis preju\u00edzo para os pacientes. Mesmo com tantas dificuldades, pacientes em parcerias com grandes organiza\u00e7\u00f5es e associa\u00e7\u00f5es t\u00eam buscado grandes aux\u00edlios no que se diz respeito \u00e0s doen\u00e7as raras.<\/p>\n

Mas, o que a Lei n\u00b0 14.154 e a portaria n\u00b0 199 t\u00eam em comum? Para\u00a0Gustavo San Martin<\/strong>, diretor executivo da AME, ambas n\u00e3o conseguem atender de forma hol\u00edstica o paciente, pois\u00a0n\u00e3o basta diagnosticar, \u00e9 preciso tratar!<\/strong>\u00a0E, ainda, no caso da portaria n\u00b0 199,\u00a0falta que a aten\u00e7\u00e3o seja, de fato, integral.<\/strong><\/p>\n

Por\u00e9m, a\u00e7\u00f5es como a uniformiza\u00e7\u00e3o do teste do pezinho, acesso aos testes gen\u00e9ticos, diagn\u00f3stico precoce e tratamento, com vis\u00e3o multidisciplinar, s\u00e3o medidas capazes de reduzir o impacto na rotina do paciente e propiciar melhor qualidade de vida.<\/p>\n

Acredita-se que a\u00e7\u00f5es como essas contribuem para dar visibilidade e voz \u00e0s pessoas que vivem com doen\u00e7as raras, possibilitando uma maior promo\u00e7\u00e3o de pol\u00edticas p\u00fablicas de sa\u00fade em todo o Brasil.<\/p>\n

Do ponto de vista da ind\u00fastria, as doen\u00e7as raras seguem negligenciadas no Brasil. Para\u00a0Edson Paix\u00e3o<\/strong>, gerente geral da Ultragenyx,\u00a0s\u00e3o poucos os pacientes raros que sequer t\u00eam tratamento multidisciplinar<\/strong>\u00a0ou condi\u00e7\u00f5es de fazer o diagn\u00f3stico,\u00a0que teve o seu tempo m\u00e9dio reduzido de dez para seis anos<\/strong>. Embora essa melhora tenha sido constatada, ainda n\u00e3o \u00e9 o ideal para evitar uma poss\u00edvel deteriora\u00e7\u00e3o e, consequentemente, um comprometimento grave.<\/p>\n

Dentro do universo de triagem e encaminhamento,\u00a0os pediatras n\u00e3o est\u00e3o capacitados<\/strong>\u00a0para direcionar um paciente com alguma doen\u00e7a rara tampouco para a interpreta\u00e7\u00e3o do diagn\u00f3stico. Fato recorrente e que colabora para que o indiv\u00edduo fique ainda mais perdido no sistema, que apresenta falhas consider\u00e1veis em toda a rede. De acordo com Paix\u00e3o, esse problema vis\u00edvel aos olhos do portador de doen\u00e7a rara acarreta a busca do paciente pelas associa\u00e7\u00f5es e redes de apoio.<\/p>\n

[\/et_pb_text][et_pb_image admin_label=”Imagen 2″ _builder_version=”4.4.8″ src=”https:\/\/ideasbr.llorenteycuenca.com\/wp-content\/uploads\/sites\/8\/2022\/04\/Mesa-de-trabajo-21-e1649711154235.png” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ z_index_tablet=”0″ \/][et_pb_text admin_label=”MI ENFERMEDAD RARA ES DISTINTA DE LA TUYA” _builder_version=”4.4.8″ text_text_shadow_horizontal_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_horizontal_length_tablet=”0px” text_text_shadow_vertical_length=”text_text_shadow_style,%91object Object%93″ text_text_shadow_vertical_length_tablet=”0px” text_text_shadow_blur_strength=”text_text_shadow_style,%91object Object%93″ text_text_shadow_blur_strength_tablet=”1px” link_text_shadow_horizontal_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_horizontal_length_tablet=”0px” link_text_shadow_vertical_length=”link_text_shadow_style,%91object Object%93″ link_text_shadow_vertical_length_tablet=”0px” link_text_shadow_blur_strength=”link_text_shadow_style,%91object Object%93″ link_text_shadow_blur_strength_tablet=”1px” ul_text_shadow_horizontal_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_horizontal_length_tablet=”0px” ul_text_shadow_vertical_length=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_vertical_length_tablet=”0px” ul_text_shadow_blur_strength=”ul_text_shadow_style,%91object Object%93″ ul_text_shadow_blur_strength_tablet=”1px” ol_text_shadow_horizontal_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_horizontal_length_tablet=”0px” ol_text_shadow_vertical_length=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_vertical_length_tablet=”0px” ol_text_shadow_blur_strength=”ol_text_shadow_style,%91object Object%93″ ol_text_shadow_blur_strength_tablet=”1px” quote_text_shadow_horizontal_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_horizontal_length_tablet=”0px” quote_text_shadow_vertical_length=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_vertical_length_tablet=”0px” quote_text_shadow_blur_strength=”quote_text_shadow_style,%91object Object%93″ quote_text_shadow_blur_strength_tablet=”1px” header_text_shadow_horizontal_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_horizontal_length_tablet=”0px” header_text_shadow_vertical_length=”header_text_shadow_style,%91object Object%93″ header_text_shadow_vertical_length_tablet=”0px” header_text_shadow_blur_strength=”header_text_shadow_style,%91object Object%93″ header_text_shadow_blur_strength_tablet=”1px” header_2_text_shadow_horizontal_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_horizontal_length_tablet=”0px” header_2_text_shadow_vertical_length=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_vertical_length_tablet=”0px” header_2_text_shadow_blur_strength=”header_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_blur_strength_tablet=”1px” header_3_text_shadow_horizontal_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_horizontal_length_tablet=”0px” header_3_text_shadow_vertical_length=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_vertical_length_tablet=”0px” header_3_text_shadow_blur_strength=”header_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_blur_strength_tablet=”1px” header_4_text_shadow_horizontal_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_horizontal_length_tablet=”0px” header_4_text_shadow_vertical_length=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_vertical_length_tablet=”0px” header_4_text_shadow_blur_strength=”header_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_blur_strength_tablet=”1px” header_5_text_shadow_horizontal_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_horizontal_length_tablet=”0px” header_5_text_shadow_vertical_length=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_vertical_length_tablet=”0px” header_5_text_shadow_blur_strength=”header_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_blur_strength_tablet=”1px” header_6_text_shadow_horizontal_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_horizontal_length_tablet=”0px” header_6_text_shadow_vertical_length=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_vertical_length_tablet=”0px” header_6_text_shadow_blur_strength=”header_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_blur_strength_tablet=”1px” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ z_index_tablet=”0″]<\/p>\n

O MEU RARO \u00c9 DIFERENTE DO SEU RARO<\/strong><\/h2>\n

As doen\u00e7as raras s\u00e3o caracterizadas como condi\u00e7\u00f5es de sa\u00fade, geralmente cr\u00f4nicas, de baixa preval\u00eancia na popula\u00e7\u00e3o. A maioria,\u00a0cerca de 80% s\u00e3o gen\u00e9ticas<\/strong>, mas existem tamb\u00e9m as que s\u00e3o desencadeadas por infec\u00e7\u00f5es bacterianas, v\u00edrus e alergias.<\/p>\n

Ainda que as doen\u00e7as sejam raras, os pacientes com estas doen\u00e7as s\u00e3o muitos. E esse n\u00famero pode ser maior ainda. Portanto, n\u00e3o \u00e9 incomum se ter uma doen\u00e7a rara. Al\u00e9m de n\u00e3o ser incomum ser afetado por uma enfermidade dessa categoria, as fam\u00edlias destes pacientes s\u00e3o em todos os pontos afetados diretamente ou indiretamente pela condi\u00e7\u00e3o. Partindo deste ponto, \u00e9 tamb\u00e9m \u201craro\u201d encontrar qualquer fam\u00edlia, ou at\u00e9 mesmo algum conhecido que n\u00e3o tenha sido impactado de alguma forma por uma patologia rara.<\/p>\n

Uma pessoa afetada tem a sua expectativa de vida reduzida frente \u00e0 um indiv\u00edduo saud\u00e1vel. A expectativa de vida de um paciente diagnosticado com esclerose m\u00faltipla, por exemplo, \u00e9 diferente de um indiv\u00edduo que tenha acondroplasia. Existem doen\u00e7as raras que os pacientes morrem no nascimento, s\u00e3o degenerativas ou fatais. Logo, o meu raro \u00e9 diferente do seu raro. Essas diferen\u00e7as resultam em uma jornada para o diagn\u00f3stico e acesso ao tratamento despadronizado.<\/p>\n

Independente de qu\u00e3o raro a pessoa seja, \u00e9 de grande relev\u00e2ncia, tanto em \u00e2mbito nacional como internacional, a conscientiza\u00e7\u00e3o dessas doen\u00e7as extremamente espec\u00edficas e de dif\u00edcil diagn\u00f3stico.<\/p>\n

De norte a sul do pa\u00eds, essas enfermidades se fazem presentes. A contagem de pacientes \u00fanicos por regi\u00e3o, de acordo com um levantamento encomendado pela\u00a0LLYC<\/strong>\u00a0e realizado pela\u00a0IQVIA<\/strong>, \u00e9 a seguinte:<\/p>\n