The ‘First Steps in Awareness’ taken for rare diseases

An event titled “Awareness is the First Step” was organized by Istanbul Medipol University Rare Diseases Club to draw attention to rare diseases. Taking place at the South Campus Conference Hall, the event was attended by Prof. Neslihan Abacı from the Department of Genetics of the Aziz Sancar Institute of Experimental Medicine at Istanbul University, Assoc. Prof. Muhsin Elmas from the Department of Medical Genetics of the School of Medicine at Istanbul Medipol University, Prof. Emel Ergül from the Department of Medical Biology of the Faculty of Medicine at Kocaeli University, Alim Yılmaz, who is the Representative of the Rare Diseases Federation Albinism Association Lawyer, Ayşem Suner, a Board Member of the Angelman Syndrome Association, academics, who are experts in their fields, and students. Speaking at the opening of the event, Istanbul Medipol University Vocational School of Health Services (VSHS) Director Prof. İlknur Keskin stated that rare diseases are conditions that have a low prevalence in society but cause serious and chronic health problems. Prof. Keskin stated that these diseases are largely genetic in origin and can occur at an early age and noted that some rare diseases can be seen in adulthood.

PROF. KESKİN: EARLY DIAGNOSIS IN RARE DISEASES SAVES LIVES   
Prof. İlknur Keskin emphasized that one of the biggest challenges in rare diseases is the diagnosis process, pointing out that the diagnosis process is long and complicated. She said: “Because the symptoms of these diseases are similar to other common diseases, it can take years to make a correct diagnosis. At the same time, treatment options are limited, and there is no definitive treatment for most of the diseases.” Prof. Keskin adds that delays in diagnosis seriously reduce the quality of life of patients. She noted that misdiagnosis or delayed diagnosis has serious consequences and said: “The quality of life of patients who cannot receive a correct diagnosis and use ineffective treatments decreases significantly, disabilities may develop due to the natural course of the disease, and even deaths may occur.” Prof. Keskin stated that the Istanbul Medipol University Rare Diseases Club will continue to organize events to raise awareness and concluded her speech by thanking the participants.

PROF. ABACI: 38 OUT OF 100 THOUSAND PEOPLE IN TÜRKİYE HAVE A RARE DISEASE  
Prof. Neslihan Abacı from the Department of Genetics of the Aziz Sancar Institute of Experimental Medicine at Istanbul University presented general information about rare diseases. Sharing important data on the diagnosis and treatment processes of rare diseases in her presentation, Prof. Abacı stated that the first studies in this field started in the USA in 1983. Stating that there are 8 thousand different rare diseases worldwide, Prof. Abacı said: “5-8 percent of the society lives with rare diseases. While 473 million people worldwide are affected by rare diseases, 38 out of 100 thousand people in Türkiye have a rare disease.” Adding that the diagnosis process of rare diseases is long, and that the majority of patients are initially misdiagnosed, Prof. Abacı said: “The diagnosis of these diseases takes an average of 4.5 years, and 40% of cases are initially misdiagnosed. In addition, only 5% of rare diseases can be treated.” Prof. Abacı emphasized the importance of awareness in the fight against these diseases and concluded her speech as follows: “The Ministry of Health, the Presidency of Turkish Health Institutes (TÜSEB), and various civil society organizations are conducting studies in this field in Türkiye. However, individual awareness is also of great importance. We should increase social sensitivity by raising awareness about rare diseases.”