Rare diseases are chronic, progressive disorders that occur in 6-8% of the population, and 80% are genetic in origin. There are 6,000-8,000 diseases identified globally, and 3-4 new diseases are added to this group of diseases each year. The prevalence of rare diseases is determined by the European Association for Rare Diseases (EURORDIS) and ORPHANET with the support of the European Commission.[1]

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.[2]

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.²

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.²

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.²

Rare diseases not only affect the person diagnosed – they also impact families, friends, care takers and society as a whole.²

What You Need to Know About Rare Diseases

 ·       An estimated 30 million people are living with a rare disease in 48 countries in Europe.2

·       Each rare disease affects fewer than 1 in 2000 people.2

·       There are over 6000 distinct rare diseases.2

·       Approximately 85% of rare diseases affect fewer than one individual in a million, or fewer than 500 individuals in the European Union. 2

·       75% of rare diseases affect children. 70% of rare diseases have their onset during childhood.2

·       72% are of genetic origin, 28% are non-genetic; including rare cancers, rare infections, immune deficiencies & health hazards.2

·       Only 1,200 out of all rare diseases, have more than five documented cases published in the scientific literature.3

·       70% wait more than 1 year to get a confirmed diagnosis after coming to medical attention.2

·       It takes on average 5 years for rare disease patients to get a diagnosis.[1]

·       44% had to consult with more than 4 healthcare professionals before receiving a diagnosis.3

·       94% support the diagnosis of rare conditions at a child’s birth.3

·       95% of Rare Diseases Lack an FDA Approved Treatment.[2]

·       1 in 2 Rare Diseases Don’t Have a Foundation or Research Support Groups.4

·       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. 2

·       2/3 of family carers spend more than 2 hours a day on disease-related tasks.2

·       The proportion of people with rare diseases who report feeling depressed is 3 times higher than that of the general population.2

It is Important to Raise Awareness

Rare Disease Day is a global initiative to raise awareness and generate support for everyone who is on a rare medical journey. It takes place on the last day of February, which this year is February 28th.[5]

References:

1.    https://hastane.bozok.edu.tr/upload/dosya/uvxu.pdf

2.    https://www.eurordis.org/information-support/what-is-a-rare-disease/

3.    https://www.eurordis.org/our-priorities/diagnosis/

4.    https://globalgenes.org/rare-disease-facts/

5.    https://rarediseases.org/rare-disease-day/?utm_source