Think about it, you or someone close to you was born with a rare disease that is seen only once in 2 thousand people or one in 200 thousand people in the world, the disease is so rare that even the diagnosis was made very difficult, maybe it took years. Moreover, there are not many options in the treatment! There are between 250 and 300 million people in this situation in the world and about 8 thousand different rare diseases in this way.
RARE DISEASES DAY
Reminding that the last day of February is determined as the “Rare Diseases Day” every year in order to draw attention to these diseases and increase the knowledge of the society, Prof. Dr. Sibel Ertek Yalçın says the following about the importance of the day: “Since the studies of health professionals and the pharmaceutical industry on rare diseases are scarce, this patient group both lost time until diagnosis and had difficulties in being treated in previous years. Associations established with doctors, patients and their relatives in order to draw attention to the problems of these patients and find solutions, ensured the recognition of these diseases in different countries. It takes an average of four and a half years to diagnose a rare case. Currently, there are 560 drugs for the treatment of these diseases.
RARE DISEASES UNIT IS ESTABLISHED
Rare diseases include diseases from all branches of medicine, ranging from some coagulation disorders to rapid and premature aging, from glass bone disease to pulmonary hypertension to various muscle and nerve diseases. Therefore, rare diseases are included in different branches. prof. Dr. Sibel Ertek Yalçın states that the Rare Diseases Unit, which was established within the Rare Diseases Department (OZÖGNH) Department of Turkey, Public Health and Chronic Diseases Institute (TÜSEB-TÜHKE), which was established two years ago under the Ministry of Health in our country, is working on these issues.
OUR COUNTRY HAS SEVEN MILLION PEOPLE
prof. Dr. Sibel Ertek Yalçın underlines that rare diseases are often due to genetic causes and are more common with consanguineous marriages. Noting that rare diseases are seen more frequently in our country due to consanguineous marriages and they affect approximately 7 million people, Prof. Dr. Yalçın states that some rare diseases are an important health problem because they are progressive and fatal. Explaining that about half of the patients are children and that the disease started under the age of 5, Prof. Dr. Yalçın points out that only 5% of these diseases have a cure.
ORGAN DONATION IS GREATLY IMPORTANT
“On World Rare Disease Day, being aware of the existence of these diseases and supporting the resources allocated to them will lighten their burden a little,” said Prof. Dr. Yalçın continues his words as follows: “For these patients, besides diagnosis and treatment, the most important thing to do is to provide accurate information and reliable information sources in order to raise awareness in the society. It is extremely important to plan screenings to identify people at high risk for rare diseases, to explain the importance of this before marriage and in the neonatal period. and providing psychological and social support to patients is one of the most important issues. In addition, the importance of organ transplantation and organ donation for these patients should be emphasized. It is also necessary to raise awareness of the society about the risks of consanguineous marriages, especially first cousin marriages.”