Doenças raras : quem paga qual conta ?

O debate entre sanitaristas, governantes e economistas sobre as doenças raras frequentemente é orientado para o impacto orçamentário da incorporação, pelos sistemas de saúde de caráter público e suplementar, dos chamados medicamentos órfãos. Trata-se de medicamentos que, por se restringirem a um público-alvo reduzido e necessitarem elevado investimento na pesquisa tecnológica para o seu desenvolvimento, são pouco lucrativos e de insuficiente ou nenhum interesse para as indústrias farmacêuticas. Essa é uma questão sem dúvida importante, mas há outras dimensões do impacto econômico e social das doenças raras que requerem estudo. O artigo de Pinto et al. 1, publicado neste fascículo de CSP, avança nesse debate, delineando o perfil das crianças e adolescentes com três dessas condições raras e de seus cuidadores, e mais importantemente, evidenciando o impacto financeiro e social dessas doenças na família. O que vemos são famílias que, além de enfrentarem o sofrimento de lidar com uma criança doente, se endividam como consequência da perda de renda e aumento de gastos. Perda de renda por indisponibilidade para trabalhar, e aumento dos gastos pelos custos elevados do transporte (muitos moram longe) e necessidade de contratação de cuidadores para a criança doente ou para as demais crianças da família, entre outros. Não surpreende o achado de que a principal carga recaia sobre as mães. Essas perdas e suas consequências não são resolvidas com os incentivos financeiros governamentais. No que pese o contexto particular em que os dados foram coletados, um hospital pediátrico de referência no Município do Rio de Janeiro, e a seleção de uma clientela majoritariamente pertencente a uma associação representativa, os autores trazem para a discussão exemplos do mesmo fenômeno relacionado a outras doenças raras, em diferentes cenários e populações. A iniciativa de estimar os custos da doença sob a perspectiva do paciente e da família é louvável. Por serem trabalhosos, custosos e necessitarem de consentimento informado por parte dos entrevistados, os estudos de avaliação econômica em saúde frequentemente deixam de lado esse aspecto, para focar exclusivamente na perspectiva do financiador. Não fazia parte do escopo do estudo avaliar a qualidade de vida das crianças ou dos cuidadores. Entretanto, não é difícil imaginar, com os dados apresentados, o impacto da doença nesse quesito não avaliado. Doenças raras: quem paga qual conta?

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.
The authors' initiative of estimating the costs of the disease from the patient's and family's perspective is praiseworthy.Economic assessments in health frequently overlook this aspect, since such studies are labor-intensive and costly and require informed consent from the interviewees, rather focusing exclusively on the funder's perspective.It was beyond the study's scope to assess quality of life for these children and their caregivers.However, with the data presented, it is not difficult to imagine the impact of the disease on this item, although not assessed in the article.

Rare diseases: who pays which bill?
Anete Trajman 1,2 doi: 10.1590/0102-311X00145719Some 250 new rare diseases are described every year due to the refinement of knowledge on pathophysiology and genomics.Thus, rare diseases are not all that rare, especially considering the total number of persons affected by these various diseases.Technological development in recent decades has created the possibility of treatment for many rare diseases.Associations of patients living with these diseases and health activists have propelled research for the development of new drugs.However, access to the drug is not enough, as clearly shown by Pinto et al.It is necessary to guarantee that the best care is offered.This requires more than monetary incentives.It is necessary to support and enable the caregivers' intense journey of dedication.
The United Nations' 2030 Agenda for Sustainable Development2 proposes "to leave no one behind".Gender, social, racial, and religious inequities must be The article by Pinto et al. gives us food for thought on many of these inequities.Only a debate involving academic institutions, decision-makers, regulatory agencies, the pharmaceutical industry, and especially civil society through individual empowerment and advocacy associations 3,4,5 can answer the remaining questions: Who in fact is the orphan -the drug, the disease, or the affected family?Who should pay the bill?Which costs should be presented -in addition to the financial costs?