Experts discussed early diagnosis and treatment of orphan diseases

On July 31, a press conference "Diagnose on time" was held. The ideological and technical organizer was ANO OMIKS and the All-Russian Society of Rare (Orphan) Diseases.

"Some of the rare (orphan) diseases can be effectively treated from the very first months of life, provided they are detected in a timely manner. However, most of these pathologies are not included in neonatal screening programs, and diagnosis is often carried out at the stage of manifestation of severe symptoms, when the optimal time for starting therapy has already been missed," said Ekaterina Zakharova, MD.

Methodological recommendations developed by the Union of Pediatricians of Russia have become an important step in solving this problem. Improving diagnostic algorithms and organizational approaches helps to detect orphan diseases in a timely manner, improving the prognosis of treatment and the effectiveness of rehabilitation.

"On September 1, 2025, the order of the Ministry of Health of the Russian Federation on the expansion of the program of preventive examinations of minors comes into force. The document provides for an increase in the list of mandatory studies, including additional laboratory and instrumental diagnostic methods for different age groups," said Doctor of Medicine, Professor Nato Vashakmadze.

The activities of the Circle of Goodness Foundation, which systematically organizes expensive high-tech medical care for children with severe life-threatening diseases, attach particular importance to early diagnosis issues.:

"Thanks to the Foundation's work, more than 200 children with achondroplasia receive growth-stimulating therapy. Since June 2025, it has been possible to prescribe treatment from the first month of life, from the moment of diagnosis," said Elena Petryaikina, MD.

Experts discussed early clinical markers that make it possible to suspect the disease at a preclinical or initial stage.:

"Neonatologists and pediatricians should be trained in the red flags of rare diseases for which therapy exists. So, babies with ossifying progressive fibrodysplasia have malformation of the first toes, which is one of the most striking signs of this disease," said Irina Nikishina, PhD.

"Even the simple methods available to parents help identify rare diseases at an early stage. For example, observing the color and consistency of a newborn's stool during the first month of life may indicate dangerous pathologies of the biliary tract, which will allow you to suspect the problem in time and consult a specialist," continued Anna Degtyareva, MD, Professor.