Every year on 28 February, or on 29 February in leap years, the world observes Rare Disease Day. The day shines a light on the millions of people living with rare diseases who are often overlooked within health systems, research agendas, and public awareness efforts.
Although each rare disease affects a small number of people, rare diseases collectively impact more than three hundred million individuals worldwide. At Orapuh, Rare Disease Day reflects our commitment to inclusive health education, research communication, and equitable care in oral and public health.
A rare disease is typically defined as a condition that affects a small proportion of the population. There are more than seven thousand known rare diseases, most of which are chronic, progressive, and life threatening. Many appear in childhood, and a large number have a genetic origin.
Despite their diversity, people living with rare diseases often face similar challenges, including delayed diagnosis, limited treatment options, lack of specialist care, and social isolation.
The Global Burden of Rare Diseases
Rare diseases occur in every country and across all populations. However, the burden is particularly heavy in low and middle income countries, where diagnostic services, specialised care, and research capacity are limited.
Many patients spend years seeking a diagnosis, consulting multiple healthcare providers without answers. This diagnostic delay leads to worsening disease, emotional distress, and unnecessary healthcare costs. Families are often forced to become advocates, caregivers, and care coordinators in the absence of structured support.
The Importance of Early and Accurate Diagnosis
Early and accurate diagnosis is critical for managing rare diseases effectively. A timely diagnosis can prevent complications, guide treatment, inform family planning, and improve quality of life.
Improving diagnosis requires:
- Awareness among healthcare providers
- Access to diagnostic tools and laboratories
- Clear referral pathways
- Use of genetic and molecular testing where appropriate
- Integration of rare diseases into medical and public health training
Strengthening diagnostic capacity at the primary and secondary care levels is essential for reducing the long diagnostic journey experienced by many patients.
Access to Treatment and Supportive Care
For many rare diseases, effective treatments are limited or unavailable. Even when treatments exist, they are often expensive and inaccessible to most patients. Supportive care, including rehabilitation, mental health support, and social services, plays a crucial role in improving daily functioning and wellbeing.
Equitable access to care should not depend on geography, income, or disease prevalence. Health systems must be designed to respond to both common and rare conditions with fairness and compassion.
Rare Diseases as a Public Health and Equity Issue
Rare diseases are often perceived as a niche issue, yet they raise fundamental questions about equity, inclusion, and the right to health. Ignoring rare diseases leaves millions without adequate care and undermines the principle of universal health coverage.
Public health approaches to rare diseases include surveillance, patient registries, policy development, and integration into national health strategies. Collaboration across countries and regions is essential, particularly in settings with limited resources.
Oral Health and Rare Diseases
Many rare diseases have oral and craniofacial manifestations that affect feeding, speech, appearance, and social interaction. Oral health professionals play an important role in early recognition, diagnosis, and ongoing care.
Integrating oral health into multidisciplinary rare disease care can improve comfort, function, and quality of life. Education of dental and oral health professionals is therefore a key component of comprehensive care.
The Role of Research, Education, and Innovation
Research is vital for understanding rare diseases, developing treatments, and improving care pathways. However, rare diseases are often underfunded due to small patient populations.
Education empowers healthcare workers to recognise rare conditions and provide appropriate care. Digital health technologies, artificial intelligence, and global knowledge sharing platforms offer new opportunities to accelerate diagnosis, support research, and connect patients to expertise.
At Orapuh, we believe that open research communication and innovative education models can help bridge gaps in rare disease care, particularly in underserved regions.
The African Context
In Africa, rare diseases are frequently under recognised and under reported. Limited diagnostic infrastructure and lack of awareness contribute to misdiagnosis or missed diagnosis. Cultural beliefs and stigma may further isolate affected individuals and families.
Addressing rare diseases in Africa requires context appropriate solutions, including capacity building, regional collaboration, and inclusion of rare diseases in health policy discussions. Strengthening data collection and research is essential for informed decision making.
Our Collective Responsibilities
Rare Disease Day calls on governments, health institutions, researchers, and communities to work together to ensure that no one is left behind because their condition is uncommon.
Individuals can raise awareness and challenge stigma. Health professionals can commit to lifelong learning and patient centred care. Institutions can invest in research, education, and service development. Policymakers can support inclusive health policies and equitable access to care.
At Orapuh, we stand with people living with rare diseases, their families, and caregivers. On Rare Disease Day, we reaffirm our commitment to advancing knowledge, strengthening health systems, and promoting equity in oral and public health.
Rare diseases may be uncommon, but the people affected are not invisible. Making the invisible visible is a responsibility we all share.