The Sunflower Charitable Foundation spoke about the problems of patients with orphan diseases

February 27, 2023, 15:25 – BLiTZ – News

By the fall of 2021, 271 such diseases were recorded in Russia and at least 36,000 identified patients. However, many experts say that there are many more people suffering from orphan diseases. To identify them, a pilot neonatal screening project was launched in Russia, which was carried out in Bashkortostan.

Irina Bakradze, President of the Podsolnukh Charitable Foundation for Children and Adults, spoke on the air of the BLiTZ about the problems of diagnosing orphan diseases in Russia. “Most of our patients have a diagnosis of unspecified primary immunodeficiency. This means that the diagnosis has been made, but further verification and clarification is required in order to accurately determine what specific gene breakdown is in question and prescribe the correct treatment.”

Often the diagnosis is made on the basis of clinical symptoms or laboratory tests, the expert explained. Further, for subsequent verification, more in-depth studies are needed, including genetic studies.

“The problem is that today genetic research is not covered by any program of state guarantees. Neither the federal nor the regional level. It remains funded either by the patients themselves, or by charitable organizations, or through special scientific research and one-time grants, but as a system it does not work.”

Irina Bakradze also noted positive changes towards the study of hereditary, genetic diseases – the federal program of expanded screening, which started on January 1, 2023. The expert noted the importance of a multidisciplinary approach to the problem of detecting a disease and called on psychologists and social workers to communicate with parents, explaining and helping them to accept the fact that their child is sick, so that the parents do not refuse to diagnose and further monitor the child.

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