The impact
Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease.
Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offerings inadequate and research limited. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment, and the benefits of research.
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Typically disabling, the quality of life of a person living with a rare disease is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.
The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.
Rare diseases not only affect the person diagnosed – they also impact families, friends, care takers and society as a whole.
The facts
30 MILLION
people are living with a rare disease in 48 countries
in Europe.
Each rare disease affects fewer than
1 IN 2000 people.
THERE ARE OVER
6000
distinct rare diseases.
Rare diseases affect about
4% of the population during their lifetime
with estimates ranging from 3.5% to 5.9%.
THERE ARE OVER
6000
distinct rare diseases.
85%
of rare diseases affect fewer than one individual in a million, or fewer than 500 individuals in the European Union.[2]
are of genetic origin
are non-genetic
including rare cancers, rare infections, immune deficiencies & health hazards.
of people
with rare diseases wait more than 1 year to get a confirmed diagnosis after coming to medical attention.[1]
230
ORPHAN MEDICINES
authorised in the EU. The goal is to support the development of 1,000 new therapies for rare diseases by 2030.[4]
spend more than 2 hours a day on disease-related tasks.[3]
The proportion of people with rare diseases who report
FEELING DEPRESSED
is
3 TIMES HIGHER
than that of the general population.[3]
of rare diseases
affect children.
of rare diseases have
their onset during
childhood.
Out of all rare diseases
ONLY 1,200
have more than five documented cases published in the scientific literature.[2]
Is the time it takes on average for rare disease patients to get a diagnosis.[1]
85%
of rare diseases affect fewer than one individual in a million, or fewer than 500 individuals in the European Union.[2]
7 IN 10 PEOPLE LIVING WITH RARE DISEASES AND FAMILY CARERS
reduce or stop professional activity due to their or their family member’s rare disease.[3]
1,200
Out of all rare diseases, have more than five documented cases published in the scientific literature.[2]
The impact
Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease.
Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offerings inadequate and research limited. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment, and the benefits of research.
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Typically disabling, the quality of life of a person living with a rare disease is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.
The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.
Rare diseases not only affect the person diagnosed – they also impact families, friends, care takers and society as a whole.
Read more – scientific paper written by Orphanet, EURORDIS, Orphanet Island: Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
[1] Rare Barometer Diagnosis Survey. Available soon!
[3] Juggling care and daily life: the balancing act of the rare disease community
[4] Source: https://irdirc.org/resources-2/rd-metrics/ and EURORDIS therapeutic reports
[5] (2020) Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database, European Journal of Human Genetics: https://www.nature.com/articles/s41431-019-0508-0