The February 28 Rare Diseases Awareness Week Events organized by the Ankara University Rare Diseases Application and Research Center was marked by very colorful events. During the two days of activities held on the Morphology campus of the Ankara University Faculty of Medicine, visitors viewed messages put up in labyrinths, with the aim being to depict how difficult and complex the journey to the diagnosis of rare diseases can be. Afterwards, “Gaucher’s Disease” – a rare condition – was discussed in a workshop held with the participation of resident physicians.
Many patients struggling with rare diseases
The second day of the event was attended by Prof. Dr. Necdet Ünüvar, Ankara University President, Prof. Dr. Zehra Aycan, Dean of the Ankara University Faculty of Medicine, and Assoc. Dr. Fatma Tuba Eminoğlu, the Director of the Ankara University Rare Diseases Application and Research Center, and featured opening speeches on rare diseases and the importance of awareness. Although each rare disease may seem insignificant in terms of its incidence, when it is understood that more than 7,000 rare diseases have been identified to date, it can be understood that many patients struggle with these diseases, the effects of which can be irreversible if diagnosis is delayed and if there is no access to drugs. The speeches highlighted the projects and plans of the Ankara University Rare Diseases Application and Research Center, which continues to work intensively on studies into the diagnosis and treatment of patients while conducting scientific research.
Colorful paintings displayed
During the event, video messages emphasizing the importance of early diagnosis were received from physicians highlighting the need for a multidisciplinary approach and increased awareness. A group of students and physicians from NADİR created colorful paintings on boards while wearing aprons giving messages related to rare diseases for the group photographs. Balloons of different colors to represent diversity were released from the Morphology foyer at the end of the event.
February 29, which is a rare date, has been designated as “Rare Diseases Day” all over the world and is marked on the last day of February every year. Diseases with an incidence of less than 1/2000 are defined as “rare diseases”. Rare diseases, of which 7,000 have been identified to date, affect more than one system, and while they are observed in only a small proportion of the general population, they negatively affect the quality of life of the patient and his or her family. It is estimated that approximately 400 million people worldwide are affected by rare diseases.
The difficulties encountered in the diagnosis of rare diseases are a significant problem.
It is estimated that 5–6.5 million individuals are affected by rare diseases in our country, although this number may be even higher as the majority of rare diseases are genetically transmitted, and consanguineous marriages are common in our country. The difficulties faced in the diagnosis of rare diseases are a well-known problem, and unfortunately it can take 8–10 years for patients to obtain a correct diagnosis. Such delays in diagnosis can lead to the irreversible progression of the patient’s condition, the application of unnecessary tests or incorrect treatments due to misdiagnosis, placing a significant burden on the healthcare system. The main reasons for delays in making a correct diagnosis include the low level of awareness of rare diseases and the low number of affected patients. The difficulties experienced in the treatment of rare diseases are another significant problem due to the costs associated with the need for personalized and “orphan drugs”. Furthermore, obtaining these drugs can be difficult, and their high cost can have a negative and irreversible effect on a patient’s health.
“Make A Difference, Raise Awareness”, “See Me, Discover My Color”
The Ankara University Rare Diseases Application and Research Center was established within Ankara University in June 2021, and given the responsibility for the development of a community screening approach for rare diseases, for increasing awareness, for taking measures to reduce the incidence of rare diseases in our country, for the dissemination of diagnostic approaches and for the development of new treatments. Operating in line with the slogans “We are Both Aware and With You”, “Make a Difference, Raise Awareness”, “See Me, Discover My Color” and “Rare is Precious, First Treatment is Love” the center continues its works unabated through its educational programs, scientific research and awareness-raising activities, and calls for unity in the journey of every rare life towards hope. We congratulate the Ankara University Rare Diseases Application and Research Center for this amazing event, for its continued studies into the diagnosis, follow-up and treatment of rare diseases, and for the specialist training it provides related to rare diseases as it continues on its path to become a ray of hope for those with rare diseases, and wish them success in all their activities.
http://www.medicine.ankara.edu.tr/2022/03/03/nadir-hastaliklar-farkindalik-haftasi-etkinliklerinde-renkli-goruntuler/