What are orphan diseases?
These are rare acquired or congenital diseases of various body systems, occurring very rarely – less than one case per 2,000 of the country’s population. 80% of these diseases are genetically determined. They have a severe and chronic course, can affect the duration and quality of life of patients.
How can they be identified and prevented?
In order to identify the risks of developing orphan diseases from the first days of life, newborns in Ukraine are screened. Blood for analysis is taken from the child’s heel. Its results diagnose diseases such as cystic fibrosis, phenylketonuria, hypothyroidism and adrenogenital syndrome. Such early diagnosis allows an early start of treatment if necessary, which greatly increases the patient’s chances for a more or less normal future life. However, if our state conducts screening to detect only 2 (4) diseases, in the USA it is possible to diagnose up to 68 diseases, and in Europe a child is tested for 22 genetic pathologies at birth. These patients are treated for the rest of their lives.
Patients with rare diseases WANT ATTENTION AND REHABILITATION!
In our Center, our specialists, thanks to our multidisciplinary team, will develop an individual program of rehabilitation. All you have to do is fill out a questionnaire on our website.