One in every twenty children in Uzbekistan is born with a hereditary condition.

This article is based on research from the Institute of Immunology and Human Genome of the Academy of Sciences of the Republic of Uzbekistan. The editorial team expresses gratitude to the scientist and specialist of the institute Tatyana Khegai for the provided materials and expert opinion.

In Uzbekistan, around one million children are born each year, and every twentieth child is born with a hereditary pathology. This means that up to 50,000 newborns immediately after birth find themselves at risk and require complex medical assistance. The problem is exacerbated by cultural and social factors: 10% of children with disabilities in the country are born as a result of consanguineous marriages. This tradition, combined with the lack of widespread screening, creates a fertile ground for the spread of orphan (rare) diseases, posing complex challenges for the healthcare system.

Orphan diseases: what they are and why they are dangerous

Orphan diseases are rare conditions that affect a limited number of people. There are up to 7,000 types known worldwide, and 72% of them have a hereditary nature. The others develop due to infections, allergies, and environmental factors. Despite their rarity, these diseases have enormous consequences: they account for 40% of infant mortality and occupy 30% of beds in pediatric hospitals.

In Uzbekistan, the diagnostic system currently covers only two congenital diseases — phenylketonuria and congenital hypothyroidism. Other diseases, including spinal muscular atrophy (SMA), cystic fibrosis, and primary immunodeficiency (PID), are still in pilot program stages. However, the national screening system has not yet been implemented, meaning thousands of children remain without timely diagnosis and treatment.

Lack of screening and missed opportunities for saving lives

Systematic neonatal screening is crucial for saving lives. In developed countries, it covers up to 95% of newborns, allowing for the early detection of severe diseases and timely treatment initiation. In Uzbekistan, such coverage is not yet achievable. For instance, in the case of SMA, early detection is critically important, as effective treatment is only possible within the first few months of life. However, the cost of therapy is staggering: a single course can range from $1.8 to $2.1 million, while lifelong support costs around $6,000 per month. For most families, such expenses are unaffordable, especially given that the healthcare system does not cover these costs.

Consanguineous marriages and their impact on children's health

Consanguineous marriages, which persist in some parts of Uzbekistan as a cultural tradition, pose a serious threat to the health of future generations. Genetic pathologies are significantly more common in families where parents share common ancestors. In 2023, 29% of children out of 6,660 treated at the National Pediatric Center in Tashkent were born from consanguineous unions. A significant portion of consanguineous marriages occurs in the southeastern regions of the country. According to data, around 60% of registered marriages between cousins from July to December 2021 were in these regions. In response to this issue, the government is considering amendments to the Family Code that could prohibit marriages between cousins. However, prohibitions alone will not resolve the problem: active educational efforts are needed to raise awareness of the risks and encourage genetic testing before planning a pregnancy.

Healthcare system issues in Uzbekistan

Uzbekistan faces several serious challenges in diagnosing and treating orphan diseases. In addition to the lack of screening and public awareness, there are barriers to drug registration and issues with treatment accessibility. Imported medications are often expensive, and their registration can take years. For example, treating PID requires immunoglobulin therapy, which costs between $5,000 to $10,000 per month, or a bone marrow transplant costing up to $500,000.

Another issue is the shortage of trained specialists and the lack of educational programs for healthcare professionals. As a result, many rare diseases are diagnosed too late, when treatment is already less effective.

How orphan diseases affect families and communities

Rare diseases impact not only the patients themselves but also their families and close circles. Experts estimate that one child with a severe diagnosis involves between 10 to 30 people: parents, relatives, doctors, social workers, and teachers. Families face not only financial hardships but also social stigmatization, where children with disabilities and their parents are rejected or marginalized.

To change the situation, comprehensive reforms are necessary. First and foremost, it is important to expand neonatal screening programs and make them accessible to all newborns. Creating a unified information database will help establish a system for tracking and monitoring rare diseases. It is also crucial to accelerate the registration processes for life-saving medications and ensure their accessible import.

However, medical measures alone are insufficient. Educational programs for healthcare professionals and the public must be launched to raise awareness about rare diseases and the importance of prevention. It is especially vital to inform the population about the risks of consanguineous marriages and promote the practice of pre-conception genetic testing to reduce the likelihood of having children with severe pathologies.

Investing in early diagnosis and prevention not only saves lives but is also economically beneficial. Every dollar spent on screening can save $5 to $15 in subsequent treatment and social support.

Addressing the issue of orphan diseases requires coordinated efforts at all levels. The Ministry of Health must play a key role by expanding neonatal screening programs and ensuring treatment accessibility for patients with rare diseases. It is necessary to expedite the registration of vital medications and provide financial support for families facing overwhelming treatment costs.

At the same time, the government must work on improving legislation, including restricting consanguineous marriages, implementing genetic counseling programs, and informing the public about the risks. It is essential not just to prohibit such unions but to offer alternative measures — for example, accessible genetic testing for couples planning children.

However, government support alone is not enough. Civil society and charitable organizations must also engage in this work, creating support communities for families battling orphan diseases and helping to raise funds for expensive treatments. Educational campaigns and public initiatives can not only reduce social stigmatization but also enhance awareness of the importance of early diagnosis and prevention.

A comprehensive approach that includes coordinated efforts from the state, the medical community, and active citizens can create conditions under which children with rare diseases have a chance for a full life. The success of these efforts will determine not only the health of future generations but also the development of society as a whole. After all, every saved life is not only a victory for medicine but also a contribution to a healthy and sustainable future for the entire country.