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World Rare Disease Day was established in 2008 by EURORDIS-Rare Diseases Europe and the Council of National Patients’ Organizations. It is celebrated every year on the last day of February and its main purpose is to raise awareness among the general public and decision-makers about rare diseases and the impact they have on the lives of patients.

A disease is rare if it affects fewer than 5 per 10,000 people, while rare is a cancer that affects fewer than 6 people per 100,000 population per year. The above proportions may seem low, but it is estimated that 5% of the world’s population suffers from rare diseases or rare forms of cancer, i.e. 300,000,000 people worldwide.

According to current scientific knowledge, 6,000-8,000 different rare diseases affect 5-8% of the total population of the European Union (EU) at some point in their lives. That is, approximately 30 million people in the EU (out of 27) and approximately 1 million Greeks are affected or are about to be affected by a rare disease. 72% are genetic diseases and of these, 70% manifest themselves already in childhood.

At the Athens Pediatric Center, the first private sector Rare Disease Clinic has been operating for several years, filling a gap that existed in the country regarding the care of people with rare diseases. The role of the Clinic is: a) diagnosis or confirmation of the correct diagnosis, with referral to genetic or other testing, b) the search for and treatment of clinical manifestations of the disease, and most importantly c), the finding of specialized centers, or international research protocols, or even pharmaceutical companies, for the administration, even on a research basis, of new “orphan” drugs. Finally, a broader role of the CHI clinic is the examination of the patient’s family with the aim of proper genetic guidance.

The CHI Clinic is staffed by two pediatricians with experience in the field and is enriched, depending on the specific needs of each case, with other specialties and subspecialties, such as a clinical geneticist, a pediatric neurologist, a pediatric endocrinologist, etc.

In the approximately 10 years of operation of the CKD clinic, patients from many parts of Greece have been examined. In some of the cases, a diagnosis was made, which took a long time to be made. In another case, a new experimental treatment was applied for the first time in collaboration with the University of Sheffield, the excellent results of which contributed to the approval of the drug as an orphan by the FDA. In addition, a patient of the CKD clinic participated in an experimental protocol in collaboration with the French National Institute of Health and Medical Research (INSERM) and was evaluated by the National Institute of Neurological Disorders and Stroke (NINDS).

The Rare Disease Clinic team, faithful to the Group’s vision for innovation, is committed to continuing with dedication the effort to provide high-level medical services.

You can see the events taking place for the World Rare Disease Day in all countries on the website https://www.rarediseaseday.org/