Doenças raras: quem paga qual conta?

Abstract

The debate on rare diseases involving public health experts, politicians, and economists often focuses on the budget impact from the public health systems' and private health plans' incorporation of so-called orphan drugs. Since such drugs are limited to a reduced target public and require high investment in technological research for their development, they are scarcely profitable and bear little or no interest to pharmaceutical companies. This is certainly an important issue, but there are other dimensions to the economic and social impact of rare diseases that require attention.The article by Pinto et al. 1 , in this edition of CSP, makes important headway in this debate, tracing the profile of children and adolescents with three of these rare conditions, plus their caregivers, and more importantly, evidencing the financial and social impact of these diseases on the family. What we find are families that not only cope with the suffering of a sick child, but become indebted due to loss of income and increased expenditures. The loss of income is due to the inability to continue working, and the increased expenditures are due to the high costs of transportation (often involving long trips from home to hospital) and the need to hire caregivers for the sick child or for the family's other children, among others. It is not surprising to find that the principal burden falls on the mothers. These losses and their consequences are not resolved by government financial incentives alone.Despite the particular context in which the data were collected (a pediatric referral hospital in the city of Rio de Janeiro) and the selection of a clientele mostly belonging to a representative patients' association, the authors expand the discussion with examples of the same phenomenon related to other diseases in different settings and populations.

Doenças raras do tipo genodermatose: um foco para a engenharia de tecidos

“…Todavia, sugere-se que os números apresentados nos estudos estejam subestimados, dado ao diagnóstico equivocado e tardio, divergência contextual e registros regulares de novas doenças raras nos sistemas de informação em saúde, e na investigação clínica. Consequentemente, as abordagens terapêuticas também se tornam difíceis de serem desenvolvidas e implementadas, culminando no impacto biopsicossocial nesses pacientes (Oliveira, 2022;Brasil, 2021;Haendel et al, 2020;Trajman, 2019). Ainda assim, na tentativa de prevenção secundária, o Brasil atualizou a Lei de 1990 para pôr em vigor a Lei de nº 14.154, de 26 de maio de 2021, que estabelece um rol mínimo de doenças a serem rastreadas (14 grupos de doenças) com o Programa Nacional de Triagem Neonatal (PNTN) do Sistema Único de Saúde (SUS) na detecção precoce de possíveis alterações (Brasil, 2021); e também estabeleceu a Portaria 199/14 que determina no Art.…”

“…A presença de ferimentos de pequena ou grande proporção também são observados e, quando não cicatrizados de forma adequada, ou em casos de repetição da injúria, podem levar à fibrose progressiva dos tecidos. Essa fragilidade acarreta numa inflamação excessiva, desordem no processo regenerativo e na arquitetura normal da MEC, predisposição a infecções oportunistas, dentre outras consequências (Nyström & Bruckner-Tuderman, 2018, 2019.…”