Rare diseases commonly affect a very small group of people and there come specific issues related to their rarity. For example, in Europe a rare disease becomes rare when it affects 1 person from 2000. Sometimes a disease is rare in one region, but often met in another. There are also common diseases with rare variations.
Today there are known six to seven thousands of rare diseases and new diseases are regularly described in medical literature. Until now, a disease is considered an alternation of the state of health, being a unique pattern of symptoms with a single treatment. Whether a specific disease is considered unique, depends completely on the level of definition of medical analysis.
While it is commonly known that genetic diseases are considered rare diseases, this is not all about genetics. There also exist quite rare forms of infectious illnesses, such as rare types of cancer and auto-immune diseases. What is common about rare disease is that the cause of these is usually unknown.
Rare diseases are often progressive, serious and chronic. Sometimes the signs of rare diseases can be observed in early childhood or at birth. These are neurofibromatosis, spinal muscular atrophy, chondrodysplasia, osteogenesis imperfect or Rett syndrome. But half of rare diseases can appear in adulthood, like Crohn disease, Huntington diseases, amyotrophic lateral sclerosis, thyroid cancer, and Charcot-Marie-Tooth disease.
Fortunately, scientists can provide some specific answers for all rare diseases. Today it becomes possible to diagnose thousands of rare diseases through a bio sample test. By creating the registries it’s easier to get access to natural history of the diseases. Researchers work through extensive networks to share the results of their investigations and become more advanced in face of rare diseases.
There is no cure for all rare diseases now, but the appropriate medical care and treatment can significantly improve the quality of life of those suffering from these types of diseases. There has been already made a significant progress for some diseases that allows presupposing that it’s not time to give up the fight, but continue to apply efforts in the field of medical research and social solidarity.