Rare Disease Day takes on 28th February, and the main objetive of this day is to raise awareness about rare diseases and their impact on patients’ lives, and improve access to treatments and medical representation for individuals with rare diseases and their families.

Since Rare Disease Day was first launched in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people. From IMED Hospitals we wish to contribute to raise awareness for these rare diseases.

rare diseases

What is a rare disease?

A rare disease is defined as a disorder that affects a small percentage of the population. According to the European Commission on Public Health, the definition of a rare diseases is a one that affects fewer than 1 in 2.000 people, or fewer than than 200.000 people in the United States.

How many people are affected by rare diseases?

From 6 to 8% of the world population are affected by these diseases. In Europe, as many as 27 million people alone may be affected by one of over 5.000 – 7.000 rare diseases existing. One rare disease may affect only a handful of patients.

How many types of rare diseases are there?

Rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Between 5.000 y 7.000 rare diseases are estimated.

Most rare diseases have genetic origins – over 80%, whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. These rare diseases are present throughout the person’s entire life, even if symptoms do not immediately appear. However it is usual that rare diseases appear early in life, and about 50% of rare diseases touch children.

What are the main problems associated with rare diseases?

Many factors associated with these diseases, causing pain and suffering to patients and their families:

  • Lack of access to correct diagnosis, due to the broad diversity of disorders and relatively common symptoms.
  • Lack of scientific knowledge and quality information on the disease.
  • There are often no existing effective cures.
  • Difficulties in access to treatments and care, and it often results in heavy social and financial burdens on patients and families.

What progress has been made in rare diseases?

Although rare disease patients and their families face many challenges, enormous progress is being made every day. Important advances have been developed in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases. Also, many governments and organizations have been leading the development of appropriate public health policies.

However, the road ahead is long. From IMED we invite you to raise awareness about rare diseases and share this information.