February 26, 2021, Almaty - Traditionally, on the last day of February, the International Day of Rare Diseases is celebrated all over the world, the purpose of which is to draw public attention to the problems of people with rare diseases, as well as to raise awareness of the population about rare diseases and their impact on people's lives

There are more than 7,000 rare diseases in the world today. In our country, diseases are considered rare with a prevalence of 1 case per 10 thousand people. In total, there are more than 40,000 people in Kazakhstan with rare diseases, 80% of them are of a genetic nature. Often such diseases have a severe chronic course and, in the absence of timely pathogenetic treatment, lead to persistent disability and a decrease in the quality of life.

In November 2020, the Association for Assisting Patients with Orphan Diseases was organized in Kazakhstan.

“The main mission and goal of our association is to ensure timely diagnosis, treatment, rehabilitation of patients with rare pathologies, as well as to organize charitable assistance and social support. We invite all patient and public organizations to unite into a single association. The active participation of such NGOs will make it possible to make a significant contribution to the adoption of important regulatory documents, to influence the solution of the problems of patients with rare diseases at the national level, and to facilitate the adoption and implementation of national plans or strategies for rare diseases in the country, including the introduction of new orphan diseases. drugs and advanced methods of treatment "- said the head of the" Association for Assisting Patients with Orphan Diseases "Bakhyt Baigaliyeva.

Currently, the Association includes the Help Today, "Assistance to Patients with Multiple Sclerosis", "Omirge Sen", "Zhana Omir", Patient Organization "NAO Kazakhstan", "Children with Disabilities with Gaucher Disease", Association handicapped patients with hemablastosis "and Charitable Foundation "Kobelek balalar".

Since 2016, the Help Today Foundation has been carrying out charitable activities for children with cancer and rare diseases. Having become a member of the Public Council at the Scientific Center of Pediatrics and Children’s Surgery, we began to take part in the development of roadmaps to improve the service of oncological and orphan diseases. These programs have been implemented as much as possible. Often, we receive requests from the parents of patients with orphan diseases, who ask for various kinds of support, and we try to help everyone who applies, but our strength is not enough. Over time, it became clear about the need to create an Association, where all NGOs and communities will unite and become a great force. We call on patient organizations to become part of the Association. Together we are strong!" - noted Elmira Aliyeva, Chairperson of the Help Today, member of the Board of Trustees of the "Association for Assisting Patients with Orphan Diseases in the Republic of Kazakhstan."

“More than 13,000 children with orphan diseases are under dynamic supervision in the Republic of Kazakhstan. Among them, the most common are rare neurological diseases (60%), then oncological (12%), then metabolic diseases (10%) and other more rare diseases. In Kazakhstan, there are certain achievements in the diagnosis and treatment of rare diseases. So, since 2011, patients with some orphan diseases have been provided with free medicines from the republican and local budgets, as a result of improved diagnostics, the number of observed patients has been accumulating today, since 2017, regional coordinators for orphan diseases have been working in all regions of the country, primary health care personnel are being trained in early signs of rare diseases, a Roadmap for the implementation of new diagnostic and treatment standards is being implemented, and clinical protocols are being developed. Thanks to the treatment, many of our children with rare diseases began to live to the age of majority and go under the supervision of adult therapists” said Riza Boranbaeva, Chairman of the Board of the Scientific Center of Pediatrics and Children’s Surgery.

“The Research Institute of Cardiology and Internal Diseases has been designated by the Ministry of Health of the Republic of Kazakhstan as the Coordination Center for Orphan Diseases of a Therapeutic Profile of adult patients aged 18 and older since last year. We supervise 37 patients with mucopolysaccharidosis, cystic fibrosis, Fabry and Gaucher diseases, which is 25% of all patients with these diseases” says Kurmangazy Madaliev, deputy chairman of the board of the institute.

As of February 1, 2021, more than 40 thousand patients are registered at the dispensary, of which more than 27 thousand are patients from 18 years of age and older, which is 67%. They are observed by specialized specialists in all regions of the country, for example, in the city of Nur-Sultan, 2501 patients with rare diseases are registered in the dispensary, of which 72% are adults, in Almaty - 5307, 76% of them are patients from 18 years of age or older.

According to Kurmangazy Nurmaganbetovich, in just 2 months of this year, 30% of the patients we supervise have already received highly qualified inpatient and inpatient replacement care within the walls of our medical institution.

There are also problems - mucopolysaccharidosis, cystic fibrosis, Fabry disease and Gaucher disease are not included in the list of nosologies for the provision of inpatient and inpatient care. In this regard, patients with these nosologies are currently hospitalized for the leading clinical syndrome of a somatic profile.

“Taking into account this serious problem of hospitalization of these patients, we made proposals to the Ministry of Health of the Republic of Kazakhstan to make changes and additions to the list of diagnoses by ICD-10 codes subject to treatment in the current orders“ On approval of the Rules for the provision of inpatient care ”and“ On the approval of the Rules for the provision of inpatient care ” in round-the-clock and day hospitals within the framework of the guaranteed volume of medical care and compulsory medical insurance, with the inclusion of mucopolysaccharidosis, cystic fibrosis, Fabry disease and Gaucher disease, ”said the deputy head of the clinic.