Orphan centers of the CIS: Republic of Uzbekistan

We continue to talk about the formation of orphan centers in the CIS countries. Today - the Republic of Uzbekistan.

At the II CIS Orphan Forum, Antonina Alikovna Pak, a geneticist and head of the orphan center at the National Children's Medical Center of the Republic of Uzbekistan, shared her experience.

The country has so far created the only specialized department for inpatient treatment of patients with hereditary diseases.

In 2024, the National Children's Medical Center opened the first orphan center focused on helping families with rare and hereditary diseases. Before it appeared, families who received a genetic conclusion were left alone with the diagnosis - they did not know what to do, where to go, and felt lost. The center became a response to this challenge.

The goal of the center is to create an orphan corner within the NDMC — a multidisciplinary space that unites everyone involved in the fate of a patient with a rare disease: medical specialists, social workers, teachers, lawyers. This is not a formal structure, but a living model of interaction that ensures timely routing and comprehensive support.

Special attention is paid to educating families — including on the topic of genetic risks, especially in the context of consanguineous marriages. The center emphasizes that responsibility for repeated risk lies primarily with parents — informed, alert, understanding the hereditary nature of the disease.

The center's work is based on a combination of outpatient monitoring and inpatient support. If necessary, the child is hospitalized for an in-depth assessment of the condition, monitoring of therapy and development of further tactics. Families are not left alone: doctors accompany them both in medical aspects and humanly - becoming part of this story for many years.

The center not only helps with treatment, but also gives a chance for a full life: with education, profession, social integration. This is possible only with comprehensive support and trusting relationships with the family.

To make help available not only in Tashkent — Orphan caravans — trips of multidisciplinary teams to the regions — allow doctors on the ground to receive support, and patients to access highly qualified care without leaving their region.

In the future, it is planned to create similar centers in other regions of the country so that no child with an orphan disease is left without support.

The work of the center is already changing lives — it returns to families a sense of confidence and a direction in which to move forward.