ABOUT RARE DISEASES

ABOUT RARE DISEASES

A rare disease, a disease referred to as “orphan” is any disease that affects a small number of the population. Most rare diseases are genetic and are present throughout the life of a person, even if the symptoms do not appear immediately. In Europe a disease or disorder called rare when it affects less than 1 in 2,000 people.

Rare diseases are characterized by a wide variety of symptoms and signs which vary not only from disease to disease, but the patient when the patient we both have the same disease.

CHARACTERISTICOF RARE DISEASES

  • Rare diseases are often chronic, progressive, degenerative and often dangerous to life.
  • Rare diseases create disabled: the quality of life of patients is often compromised by the lack or loss of autonomy
  • High level of suffering and pain for the patient and his family
  • No effective treatments exist
  • There are about 6000-8000 rare diseases
  • 75% of rare diseases affect children
  • 30% of patients with rare diseases die before age 15 years
  • 80% of rare diseases are identified with genetic origin. Other rare diseases are result of infections (bacterial or viral), allergies and environmental causes, or are degenerative or proliferative.

Rare diseases are characterized by a variety of disorders and symptoms that vary not only from disease to disease but also from patient to patient as suffering from the same disease.

Relatively common symptoms can hide a rare disease and can lead to an accurate diagnosis.

RARE DISEASE PATIENTS FRONT OF COMMON PROBLEMS

  • Lack of access to correct diagnosis
  • Delays in diagnosis
  • Lack of quality information about the disease
  • Lack of scientific knowledge about the disease
  • Severe social consequences for patients
  • Lack of scientific quality of care
  • Disparities and difficulties in treatment and in care

HOW CAN CHANGE THINGS

  • Applying a comprehensive approach to rare diseases
  • Developing appropriate policies to public health
  • By increasing international cooperation in scientific research
  • Mentioning and exchanging scientific knowledge about all rare diseases, not only to those “frequent”
  • By developing new diagnostic procedures and therapeutic
  • Increasing public awareness
  • By facilitating the relationship of patient groups to share the experiences with each other and best practices
  • Supporting the isolated patients and their parents to create new communities patient or groups of patients
  • By providing full information to the rare disease community