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Patients call for more thorough testing for rare diseases

Natalia Maeva
Photo: Ani Petrova

The National Patients' Organization (NPO) has called for screening for a greater number of rare diseases in newborns. "The earlier a diagnosis is made, the higher the quality of life afterwards," Natalia Maeva, deputy chair of the NGO and chair of the "Rare Diseases and Transplants" section of the organization, told BNR.

According to data from the National Genetic Laboratory in Bulgaria, three mandatory screening tests are performed on babies, and only one of them is for a rare disease - phenylketonuria. NGOs insist on the creation of a National Strategy for people with rare diseases and point out that it is not clear how many people have such diseases in our country due to the incomplete registers of individual diseases. It is not known what part of these people receive treatment from the Health Insurance Fund and how many are forced to pay for it themselves when their disease is not part of the Ministry of Health’s list of rare diseases.




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