Edition of 20 November 2023

At the World Orphan Drug Congress in October, Chiesi Global Rare Diseases launched a report on the economic burden of rare diseases in Germany, France, and Italy. By analysing data from 23 rare diseases across five therapeutic areas, the report examines the escalating care challenges and economic impact on European citizens living with rare diseases.

The report considered direct, indirect, and mortality-related costs of rare diseases and benchmarked them against high-prevalence diseases. It found that the average cost burden of rare diseases is approximately 15 times greater than the benchmark for common diseases (€107,000 versus €7,000 per patient per year). A lack of available treatment options also greatly increases the proportion of the total disease burden attributable to indirect costs. Families bear the brunt of these indirect costs, highlighting the need for a concentrated effort to develop more effective and accessible treatments for rare diseases.

The findings of this report underscore the importance of keeping health equity principles at the heart of attempts to foster innovative development of therapeutics. There is still a large gap between existing and required treatments for rare diseases, and additional work is needed at the European level to encourage research which helps to solve problems of access to medicines.

A new article has been published in the journal Healthcare, which analyses the implementation of Brazil’s COVID-19 vaccination campaign from the perspective of individuals living with rare disease. Brazil’s National Immunization Program (NIP) is recognised for its effective and free universal coverage for vaccinations included in the government’s immunisation calendar. During the pandemic, this included vaccination against COVID-19. However, the policy failed to prioritise patients with rare diseases, despite their high rates of comorbidities and elevated risk level. In this study, researchers attempt to understand how vaccinations against COVID-19 were dispensed to rare disease patients, and to determine how effective the NIP was at protecting such patients during the pandemic.

The authors conducted a comprehensive systematic documentary review of both scientific and public health evidence, and found that Brazil’s COVID-19 strategy did not favour people with rare conditions. While those affected by certain rare disorders were included in the umbrella category of “people with comorbidities,” this failed to encompass all rare disease patients. Additionally, no considerations were made for the specific challenges faced by the rare disease community during the pandemic. Similarly, the inclusion of rare disease caregivers in priority groups was inconsistent between states.

Overall, the study found inconsistencies in the extent to which people living with a rare disease were prioritised for vaccination against COVID-19. Moving forward, thought needs to be given to how best to ensure that this vulnerable group and their caregivers are protected against future health emergencies.

Recently, an article was published in the journal Social Science & Medicine which presents the concept of the ‘idealised policy patient.’ It discusses how powerful and persuasive patient narratives are facilitated and mobilised, in order to better understand contemporary patient power. These concepts are illustrated in the context of the UK from 2011-2015, when debates were taking place over the legislation of mitochondrial donation.

The article explores the sociological role of patients as advocates and vehicles for political change. The idealised policy patient is a figure who is optimally positioned to effect such changes, by cultivating feelings of sympathy to sway public opinion.

Four dimensions of the idealised policy patient are described: narrating, curating, enacting, and navigating. Narrating describes how this figure presents a narrative which invokes an emotional and practical response in both public and policy spaces. Curating identifies the different forms of labour which are undertaken to support patients and their families in activist activities, which strengthens the dominant narrative. Enacting focuses on the work of activists themselves in cultivating the idealised policy patient. Finally, navigating considers how those with opposing viewpoints position themselves in relation to the idealised policy patient.

By exploring the concept of the idealised policy patient, the authors enable us to better understand how patients can leverage their status for political ends. The case study of mitochondrial donation in the UK in particular highlights how rare disease patients and patient organisations can construct narratives to effectively bring about change.