In 2020, equal opportunities and equity will be the central themes of Rare Disease Day.
The international day organized for the 13th time is on the last day of February each year. The fact that the period of the first National Plan for Rare Diseases is coming to an end this year makes the issue particularly special, therefore renewing it is the next task.
Dr. Kinga Hadzsiev, associate professor and head of the Clinical Center Department of Medical Genetics said that since 2011 the international day has been organised in Pécs as well, on the initiative of Professor Béla Melegh. The Mátyás Éltes Unified Special Education Methodology Institute, Kindergarten, Elementary School, Developmental Education School, Skill Development School and College, as well as the Zsolnay Heritage Management Non-profit Ltd. also take part in the organization. This year, the program will begin at 10 a.m. on 29 February in Room E78 of the Zsolnay Quarter. The goal is to raise people’s and decision-makers’ awareness that there are people living with rare diseases.
Rare diseases are diseases that affect few people compared to the average population and their rare occurrence raises specific questions. In Europe and the United States, a disease is considered rare when it affects only one in more than 2,000 people. A disease may be rare in one area and common in others. A good example is thalassemia, a type of anaemia of genetic origin, which is rare in northern Europe but common in the Mediterranean.
Thousands of rare diseases exist. So far, six to seven thousand rare diseases have been discovered and new diseases are regularly described in the medical literature. The number of rare diseases also depends on how detailed the classification of the various symptoms and disorders is. So far, medicine has defined the disease as a deviation from a healthy condition in which a specific syndrome is associated with a single treatment. How unique the syndrome is depends entirely on the definition used in the analysis. The more accurate our definition is, the more we will recognize small differences. The different classifications used in Orphanet are complex in this respect.
While nearly all genetic diseases are rare, not all rare diseases are genetic. There are also very rare infectious diseases, as well as autoimmune diseases and rare cancers. So far, the cause of several rare diseases is unclear.
Rare diseases are serious, often chronic and progressive diseases. Signs of many rare diseases occur at birth or in childhood, such as proximal spinal muscular dystrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia, or Rett syndrome. However, more than 50% of rare diseases occur in adulthood, such as Huntington's disease, Crohn's disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi's sarcoma, or thyroid cancer.
Science is responding to more and more rare diseases. Today, hundreds of rare diseases can be diagnosed by biological test sampling. Increasingly, researchers are collaborating in networks to share and further develop the results of their research.
A description of European policy on rare diseases can be found on the European Commission's website:
http://ec.europa.eu/health/rare_diseases/policy/index_en.htm