Diagnosis and treatment of orphan diseases

Orphan diseases are rare medical conditions. The term “orphan” comes from the English word meaning “siblingless” or “without a family”. Rare, or orphan, diseases are defined as conditions affecting no more than 10 individuals per 100,000 population. To date, over 7,000 types of orphan diseases are known. The majority are caused by genetic disorders, while less common causes include toxic, infectious, and autoimmune diseases, hereditary factors, weakened immunity, poor ecology, high radiation levels, or viral infections in mothers and young children. Many of these conditions can be transmitted from one generation to another, which explains why some rare diseases develop within certain families and why a disease may be rare in one region but more common in another.

Individuals suffering from rare diseases often feel abandoned and experience a strong need for medical, psychological, and especially social support. Providing timely medical care is not always possible, since the extremely low prevalence of these conditions creates difficulties in diagnosis. In Kazakhstan, among children, orphan diseases affecting the central and peripheral nervous system are most prevalent; the second most common are oncological and hematological diseases, followed by metabolic disorders. Early detection and prompt initiation of therapy significantly improve treatment outcomes and the quality of life of affected children.

By order of the Ministry of Health of the Republic of Kazakhstan dated October 20, 2020,  a list of orphan diseases and the corresponding medicinal treatments was approved. Subsequent amendments were made to several orders regulating the provision of medicines to the population. These changes primarily concern the formation process of the list of orphan diseases and corresponding drugs, as well as their inclusion in various registries. Importantly, the order in its new version also approved the Kazakhstan National Drug Formulary.

Since 2017, Kazakhstan has been implementing a Roadmap on Rare Diseases, which includes a range of activities such as:

• Conducting educational programs in the regions,

• Providing consultative and medical assistance to children with rare diseases,

• Carrying out information and awareness campaigns, including social videos, methodological recommendations, booklets, brochures, and reminders for parents and patients,

• Visiting underserved regions in cooperation with NGOs to address issues of drug provision and related matters.

Diagnosis of orphan diseases requires a comprehensive approach, including consultations with specialized doctors and results from laboratory, instrumental, and functional tests. Beyond standard tests of blood, sputum, and biopsy samples, modern specific diagnostic methods are now available. One of the first and most accessible methods is neonatal screening, performed in maternity hospitals on the fourth day of life for full-term babies and on the seventh day for premature infants. During pregnancy, maternal blood tests for fetal DNA can be conducted, allowing detection of genetic mutations in the fetus.

The situation with orphan diseases in Kazakhstan requires further development, modernization, and regulation by national legislation and the healthcare system. There is a need to improve collaboration between medical institutions and to develop a unified plan for assisting patients with rare diseases. Increasing access to medications for this group of patients is also of great importance. Kazakhstan can adopt the European Union’s experience in engaging pharmaceutical companies, offering market incentives for the development of orphan drugs.

Gulmira ISLAMOVA,
PhD in Medical Sciences, Acting Associate Professor

Aigul MYRZABAEVA,
Senior Lecturer, Department of Internal Medicine,
Faculty of Public Health and Medicine