EBC raises awareness on Rare Disease Day

EBC is happy to recognise and support Rare Disease Day  today, held this year under the theme “Equity”.  As emphasized by EURORDIS, equity in practice means meeting people’s specific needs and eliminating barriers preventing their full participation in society. For people living with a rare disease, equity implies social opportunity, non-discrimination in education and work, and equitable access to health, social care and safety nets, diagnosis and treatment. Rare Disease Day takes place annually to raise awareness for people living with rare disease around the world and their families and carers. The long-term cause of the Rare Disease Day campaign is to achieve equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease.

There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world, each supported by family, friends and a team of carers that make up the rare disease community. Each rare disease may only affect a handful of people, scattered around the world, but taken together the number of people directly affected is equivalent to the population of the world’s third largest country. A disease defined as rare in Europe when it affects fewer than 1 in 2,000 people. For more information on Rare Disease Day, please visit: https://www.rarediseaseday.org/

A three-year research project on the Value of Treatment for Brain Disorders for more equitable access to care all around Europe, “Bridging the gaps and achieving seamless, coordinated care for people affected by rare diseases”, is currently underway – led by EBC – with results due for release this year. The project includes case studies on Ataxias, Dystonia and Phenylketonuria. Discussions on health care focus too often on the increase in per-person health care cost rather than on the benefits of better health. As managing the pandemics and further on, health systems at country level will be more stretched. It is therefore important to emphasize the need for more value-based and patient-centred care, and the scaling-up of high-quality underpinning sustainable care models for rare diseases.

Treatment gaps—the proportion of people who require detection and treatment but do not receive these or receive inadequate care—pose the biggest barriers to improved diagnosis, treatment and care across Europe. Effective interventions exist. Strategies of early diagnosis and treatment to ensure adequate care, which are proving to be cost-effective in the long run, are key. The study’s research framework includes the development of a series of qualitative and quantitative benchmarks to identify treatment gaps and causal factors along the continuum of care in a patient care pathway analysis (in alignment with the EC RarERNPath approach). The study is also assessing the socio-economic impact and health gains from optimal health-care interventions with an economic evaluation and final evidence-based policy recommendations. Case studies are analyzed with the support of patient associations and in collaboration with experts from the European Brain Council’s scientific societies.