Rare Disease Day 2024: Spotlight on Rare Infectious Diseases

Rare Disease Month coverage in a collaboration between Infection Control Today and Contagion.

Rare Disease Day is an annual observance held on the last day of February to raise awareness about rare diseases and their impact on individuals and their families. This year it is observed on February 29, 2024. It was first launched in 2008 by the European Organization for Rare Diseases (EURORDIS) and has since gained global recognition, with participation from numerous patient organizations, health care professionals, researchers, policymakers, and the general public.

The primary goal of Rare Disease Day is to shed light on the challenges faced by those living with rare diseases and to advocate for their rights. Rare diseases are defined as conditions that affect a small number of people relative to the general population. In order for a disease to be considered rare, it must affect fewer than 1 in 2,000 people. In many cases, these diseases are chronic, progressive, debilitating, and life-threatening, posing significant medical, social, and economic burdens on patients and their families.

One of the key aspects of Rare Disease Day is to highlight the importance of early diagnosis and access to appropriate treatment and care for individuals with rare diseases. 70% of rare diseases start in childhood, therefore early diagnosis and treatment is critical for patients. Due to the rarity and often complex nature of these conditions, patients frequently experience delays in diagnosis, misdiagnosis, and difficulties in accessing specialized medical expertise and treatments. This can result in prolonged suffering, unnecessary complications, and reduced quality of life.

Some examples of rare infectious diseases include blastomycosis, Ebola, malaria, measles, and diseases from prions. Other examples of rare diseases that are not infectious and are not well-known are Gaucher Disease, Leiomyosarcoma, Osteogenesis Imperfecta, Retinitis Pigmentosa, epidermolysis-bullosa, and calmodulin-dependent serine Protein Kinase (CASK). A Rare Disease database can be found here: https://rarediseases.org/rare-diseases/?starts_with=C with an overview of each disease.

Rare Disease Day also serves as a platform to advocate for research into rare diseases. Despite their individual rarity, collectively, rare diseases affect millions of people worldwide. However, research and development efforts for many rare diseases are often underfunded and lacking compared to more common diseases. Increased investment in research is crucial for understanding the underlying causes of rare diseases, developing new therapies, and ultimately improving outcomes for patients.

Additionally, Rare Disease Day seeks to foster solidarity and support within the rare disease community. By sharing personal stories, experiences, and resources, individuals and families affected by rare diseases can connect with others facing similar challenges, find support networks, and advocate collectively for their needs and rights.

Throughout Rare Disease Day, various events and activities are organized worldwide, including educational seminars, patient conferences, fundraising campaigns, social media campaigns, and awareness-raising initiatives. These efforts aim to amplify the voices of those affected by rare diseases, educate the public and healthcare professionals, and ultimately drive positive change in policies, practices, and perceptions surrounding rare diseases.

For more information regarding Rare Disease Day, visit https://www.rarediseaseday.org/