What Is a Rare Disease?

What is a Rare Disease? Diseases that occur in 1 in 2000 or less frequently worldwide, are progressive and some are fatal, are defined as rare diseases. Prof. Dr. Sibel Ertek Yalçın, an expert from DoktorTakvimi.com, states that rare diseases, which are mostly seen in children, arise due to genetic factors and consanguineous marriages, and discusses frequently asked questions about this topic on the occasion of Rare Diseases Day. Imagine you or a relative were born with a rare disease that occurs in only 1 in 2,000 people or 1 in 200,000 people worldwide. The disease is so rare that diagnosis itself is extremely difficult, possibly taking years. Moreover, there are very few treatment options! In this situation worldwide there are between 250 and 300 million people, and approximately 8,000 different rare diseases exist. Reminding that the last day of February each year is designated as "Rare Diseases Day" to draw attention to these diseases and increase public awareness, Prof. Dr. Sibel Ertek Yalçın from DoktorTakvimi.com experts expressed the following about the importance of the day: "Because health professionals and the pharmaceutical industry have conducted limited research on rare diseases, in previous years this patient group lost time both until diagnosis was made and faced difficulties in receiving treatment. Associations established together with doctors, patients and patient families to draw attention to and find solutions for these patients' problems have enabled the recognition of these diseases in different countries. The diagnosis of a rare case takes an average of four and a half years. Currently, 560 drugs are under study for the treatment of these diseases." he said. Rare diseases encompass a wide range covering diseases from every branch of medicine, from certain coagulation disorders to rapid and early aging, from brittle bone disease to pulmonary hypertension, and various muscle and nerve diseases. Therefore, rare diseases are distributed across different medical specialties. Prof. Dr. Sibel Ertek Yalçın points out that in our country, the Rare Diseases (OZÖGNH) Department established two years ago within the Ministry of Health, the Rare Diseases Unit created within the Turkey Public Health and Chronic Diseases Institute (TÜSEB-TÜHKE), is conducting work on these matters.

7 Million People in Our Country Have Rare Diseases

Prof. Dr. Sibel Ertek Yalçın emphasizes that rare diseases are frequently due to genetic causes and occur more often with consanguineous marriages. Drawing attention to the fact that rare diseases are more common in our country due to consanguineous marriages and affect approximately 7 million people, Prof. Dr. Yalçın points out that because some rare diseases are progressive and fatal, they constitute an important public health problem. Noting that more than half of patients consist of children and that the disease begins before age 5, Prof. Dr. Yalçın draws attention to the fact that only 5% of these diseases have treatment available.

Organ Donation is Very Important in Rare Diseases

"On World Rare Diseases Day, becoming aware of the existence of these diseases and supporting the resources allocated to them will somewhat lighten their burden," said Prof. Dr. Yalçın, continuing as follows: "In addition to diagnosis and treatment for these patients, the most important of what needs to be done is increasing awareness in society through correct information and the provision of reliable information sources. Planning screenings to identify individuals at high risk in terms of rare diseases, explaining the importance of this before marriage and in the newborn period are extremely important. Supporting patients and patient families and establishing communication networks, providing home care and physiotherapy support, resolving patients' health insurance and premium issues, as well as providing psychological and social support to families and patients are among the important matters. Furthermore, the importance of organ transplantation and organ donation for these patients also needs to be emphasized. The public must also be educated about consanguineous marriages, particularly the risks of first-cousin marriages.