At Scientific Center of Pediatrics and Children’s Surgery, within the framework of the International Day for Awareness of Mucopolysaccharidoses in the ZOOM, a quiz was held on the topic: "How much we know about mucopolysaccharidoses?"

Organizers: Scientific Center of Pediatrics and Children’s Surgery, “Fund of patients with mucopolysaccharidosis and rare diseases“ Zhana Omir ”.

Since 2011, the Scientific Center for Pediatrics and Children’s Surgery has been identified as the coordinator for the diagnosis and treatment of rare diseases, including mucopolysaccharidosis (MPS) in children in Kazakhstan. In medicine, a rare disease is often referred to as an orphan disease; today, more than 7,000 of their types are known. MPS belongs to rare hereditary genetic diseases. Early diagnosis of this pathology is extremely important, respectively, and timely therapy of patients suffering from MPS. In this connection, Our Center constantly conducts various educational events among pediatric specialists in the form of conferences, master classes, seminars on the diagnosis and treatment of MPS and various other rare diseases. This time, the educational process was in an unusual form, in the form of a quiz, in which regional coordinators for rare diseases, pediatricians, neurologists and general practitioners from different regions of the country took part. In total, more than 30 doctors fought for the victory.

According to the results of the quiz, Olzhas Bolatovich Abdrakhmanov, a doctor of the Almaty Children's Clinical Hospital No. 2, a coordinator of the city of Almaty on orphan diseases, became the winner. Congratulations!

Answering the questions of the quiz related to the treatment and diagnosis of MPS, the participants not only tested their competencies, but also improved their level of knowledge in this area. The information was interesting for fellow fans as well.

Together with the popularization of knowledge about MPS and other rare diseases, Our Center carries out organizational and methodological work:

- development of regulatory documents (Orders for rare diseases, Clinical protocols, Standard for the provision of medical care to patients with rare diseases);

• increasing human resources (training regional coordinators on the organization of medical care for patients with rare diseases; attracting foreign specialists to train doctors in the Republic of Kazakhstan on the diagnosis and treatment of MPS)
• information and explanatory work (conducting webinars with parents of patients on caring for patients with MPS, their treatment, early detection and prevention of various complications; development of memos for parents, speaking in the media).

The Scientific Center for Pediatrics and Children’s Surgery also conducts research in the field of orphan diseases. Research results are published not only in domestic journals, but also in international peer-reviewed journals, and are reported at various international conferences. Contacts are maintained with leading specialists from both near and far abroad (Germany, Great Britain, USA, Poland, South Korea, Japan, etc.), various joint seminars and round tables are held, where strategies for the management of patients with rare diseases are considered and exchange of experience in the diagnosis and treatment of these diseases.

As a result of this work, the detection rate of patients with mucopolysaccharidosis and their life expectancy are increasing every year. Today, 74 patients are registered in Kazakhstan (66 children, 8 adults). The oldest of them is Samat Ramazanov, who is the head of the Zhana Omir public foundation. He is one of those contributing to the support of rare disease patients. Suffering from a rare hereditary disease, he never succumbs to discouragement. Instead, as a hospital clown, he supports and entertains children who are battling cancer. He tries his best to make the children forget about their illness for a moment. His optimism, cheerfulness and good spirits support not only children, but also doctors.

It is especially worth noting the great support of patients with rare diseases on the part of our State. In particular, all patients with MPS are provided with expensive enzyme replacement drugs within the guaranteed volume of medical care, at the expense of the republican budget. To improve the quality of medical care for patients with orphan diseases, regional coordinators for rare diseases have been appointed in each region of the country. Coordination work on MPS issues in pediatric patients in Kazakhstan is carried out by a highly qualified doctor of our center, Doctor of Medical Sciences Mayra Sharipova.

All these collaborative efforts help improve the quality of life of patients with MPS and other rare diseases, as well as give them a chance for life.