Rare Diseases Ağınc the scope of Rare Disease Day, Kovid-19 overlooked in the global epidemic, approximately 350 million in the world, in Turkey known to be about 5 million individuals affected to draw attention to rare, life was held a press conference online.
At the meeting, which was held with the participation of Rare Diseases Network Founding Members Deniz Yılmaz Atakay, Ece Soyer Demir, Ayfer Ergüzel, Gülnur Gökmen and Alim Yılmaz, the studies of the network since its establishment and the experiences of how rare lives have been affected during the global epidemic process were shared.
Speaking at the meeting, Atakay said, “Phenylketonuria, Congenital Hypothyroidism, Biotinase Deficiency, Cystic Fibrosis, which are available within the scope of neonatal screening tests, and finally Congenital Adrenal Hyperplasia screening on the basis of provinces, mental retardation, irreversible brain damage due to these diagnoses, possible It prevents damages such as organ losses and the early loss of the individual. used the expressions.
Atakay stated that, thanks to the screening of approximately 1 million 300 thousand babies per year through screening centers in Istanbul and Ankara, it is possible to prevent the consequences of their diseases and prevent disability, and that the support and acceleration of studies on diseases that can be added to the search panel will provide early diagnosis and He noted that accordingly, it would allow the baby to have early access to treatment.
“Rare Diseases Patients and Caregivers Needs Assessment Common Mind Platform” giving information about the workshop output Atakay, the output of that rare patients for ecosystems in the four priority topic pointed out in Turkey, their diagnostic process, social life, the treatment process and said that the communication-coordination .
Atakay said, “As the network, we will continue to direct all our work with these and similar workshops and reports, to listen to individuals with rare diseases, and to build our collaborations with all stakeholders in this direction.” said.
“Pandemic has a multiplier effect on rare diseases”
Underlining the difficulties experienced in accessing treatment and medicine by individuals with rare diseases, Ayfer Ergüzel said, “The global pandemic has created a multiplier effect in rare diseases. At the same time, some rare metabolic diseases are not included in the chronic diseases list, preventing our patients from accessing treatment and certain social rights. While those with the disease were considered on administrative leave, our rare patients in the risk group had to go to work.With regard to vaccination, their diseases are not included in the chronic diseases list, they will have to wait in the order of age. treatment methods need to be structured immediately. ” made its evaluation.
Ergüzel stated that the Rare Diseases Unit established within the Ministry of Health is the first official unit to eliminate the problems of rare patients, overcome the difficulties, produce permanent solutions quickly and put them into practice, adding that they expect these structures to be prioritized in the relevant ministries.
Speaking at the meeting, Alim Yılmaz stated that one of the situations that individuals with rare diseases at the society level frequently and severely face is discrimination.
“The inability of individuals to use their education, social and health rights equally due to a rare disease / syndrome causes discrimination. Public institutions, NGOs and individuals should be shoulder to shoulder in order to talk about the equality regulated in Article 10 of the Constitution. Human needs interaction in order to communicate, whether they are healthy or unable to talk or move throughout their life. Based on the fact that individuals with rare diseases are human beings, we want them to be provided with conditions in which they can join the society and a social environment where they can interact, The legal regulations made oblige this. For rare individuals and their families, freedom and independence are only possible with education and real with employment. “