February 29 – Rare Disease Day on the Rarest Day of the Year
February 29th comes every 4 years. On February 29, the rarest day of the year, events are held for rare diseases all over the world, including Turkey.
Diseases that occur in less than 1 in 2000 in the population are defined as rare diseases. However, it is a term that covers more than 7000 diseases in total. There are millions of people in Turkey living with a rare disease or caring for their children with a rare disease.
According to the research published by the “Istanbul Undiagnosed and Rare Diseases Solution Platform-ISTisNA” project coordinated by Acıbadem University, the biggest problems of patients and their relatives are the difficulty in accessing doctors who specialize in rare diseases and the difficulties in receiving treatments or medications related to these diseases (1). In addition, the diagnosis of rare diseases, most of which are of genetic origin, takes a long time and even some patients (almost 10%) state that they could not receive any definitive diagnosis. According to the study, the biggest expectation of patients is the opening of centers specialized in the diagnosis and treatment of rare diseases in Turkey and the desire to access accurate and detailed information about these diseases. Nevertheless, there is progress in Turkey. The Ministry of Health has prepared the 2023-2027 Action Plan for rare diseases and plans to increase patient services and academic research in different areas related to rare diseases (2).
The Rare and Undiagnosed Diseases Platform (RUDiP) of Izmir Biomedicine and Genome Center has also been established to advance research, development, and innovation in the field of rare diseases and to accelerate the correct diagnosis and treatment of individuals with rare diseases.
On February 29, there will be Rare Disease Day events at Izmir Biomedicine and Genome Center and 9 Eylul University Faculty of Medicine. The details of the IBG-RareBoost event can be found here. Anyone who wants to hear about the recent developments in rare diseases is welcome to attend.
References:
- Hatırnaz Ng. et al. Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results. (2023) Front Public Health Jan 4:10:1049349. doi: 10.3389/fpubh.2022.1049349.
- Rare Diseases Health Strategy and Action Plan 2023-2027. Republic of Turkey The Ministry of Health. In Turkish. https://dosyamerkez.saglik.gov.tr/Eklenti/44497/0/nadir-hastaliklar-eylem-plani–011222pdf.pdf