Over 300 million persons live with a rare disease worldwide.
Over 6 000 rare diseases have been identified.
They affect 3.5% – 5.9% of the global population.
The impact of rare diseases is felt by Persons Living with a Rare Disease (PLWRD), their families, and loved ones.
PLWRD form a significant global community facing common challenges.
Rare diseases are often chronic, progressive and frequently life-threatening.
Persons living with the same rare disease are often geographically dispersed in many countries.
So no single country or region can act alone.
72% of rare diseases are genetic.
70% of rare genetic diseases start in childhood.
However, not all rare conditions are of genetic origin. Other rare diseases include rare infections (bacterial or viral), rare allergic reactions and rare cancers.
There is limited research, medical knowledge and expertise on rare diseases.
Persons Living with a Rare Disease around the world struggle to obtain a diagnosis and access therapies, services and the appropriate health and social care.
The impact of living with a rare disease goes beyond health. It is felt in every aspect of life, by Persons Living with a Rare Disease and families across the globe.
Our community experiences multiple inequities and vulnerabilities including difficult inclusion and integration in mainstream education systems, discrimination and social exclusion, and a greater risk of impoverishment.
Parents and caregivers struggle to find schools willing and able to include children living with a rare disease.
Families are impoverished by the increased costs associated with care for rare conditions, while accessing and retaining decent work is a challenge for caregivers and Persons Living with a Rare Disease.
Women face barriers to accessing care and greater stigma as Persons Living with a Rare Disease. And as mothers, women are often the primary caregivers within the home.
A lack of public awareness means that Persons Living with a Rare Disease and their challenges are often invisible and unrecognised.
Around the world, our community calls for greater recognition, inclusion and participation in society.
WHAT IS A RARE DISEASES
- The Operational Description on Rare Diseases
- “The Power of Being Counted” – RARE-X Releases New Report that uncovers large number of previously uncounted rare diseases (June 2022)
- Estimating Cumulative Point Prevalence of Rare Diseases: analysis of the Orphanet database, European Journal of Human Genetics (September 2019)
- Orphanet – About rare diseases
- IRDiRC – International Rare Disease Research Consortium
- RareConnect – Find a rare disease community