DOI: 10.21045/2071-5021-2017-58-6-6

Vitkovskaya I.P.
Research Institute for Health Organization and Medical Management of the Healthcare Department of Moscow, Moscow

Contacts: Vitkovskaya Irina, email: This e-mail address is being protected from spam bots, you need JavaScript enabled to view it
Information about author:
Vitkovskaya I.P., http://orcid.org/0000-0002-0740-1558
Acknowledgments. The study had no sponsorship.
Conflict of interests. The author declares no conflict of interest.

Significance. The problem of care organization for children with rare (orphan) diseases is a universal one. The World Health Organization (WHO) notes that none of the 27 member States of the European Union can offer treatment for the entire spectrum of rare diseases [17], while orphan diseases account for 35% of deaths during the first year of life, for 10% of deaths within 1-5 years of life and 12% of deaths within 5-15 years of life [15]. Development of the system, an integral component of which is involvement of parents will contribute to early detection, treatment and rehabilitation of children with rare (orphan) diseases. In Russia this system is yet to be tuned as evidenced by the Government Order No. 1839-R as of 31.08.2016, that approved the "Concept for developing early care until 2020". In this regard, evaluation of the system of care for children at the level of Moscow as a subject of the Russian Federation and participation of parents of the patients will allow to identify the existing problems from the perspective of the medical service consumers and make timely corrections.

The purpose of the study: to analyze opinion of parents of children with rare (orphan) diseases about availability and quality of medical care in Moscow.

Materials and methods. Analysis of opinion of parents of children suffering from rare (orphan) diseases was conducted at the Reference center for congenital genetic diseases, genetic abnormalities, and other rare orphan diseases of the Morozov Children’s City Hospital of the Moscow Healthcare Department. The opinion survey included 158 parents. Research tool: a specially designed questionnaire consisting of 69 questions. Object of the study: family with a child suffering from a rare (orphan) disease. The awareness evaluation criteria included quality indicators, defined by the number of correct answers from the options and their quantity, in % (know /don’t know). Data were processed in the Statistica 5.0 (Statsoft, USA) program and Microsoft Excel.

Results. In Moscow, the following things have a negative impact on availability and quality of care to children with rare (orphan) diseases: doctors insufficiently inform parents about health prognosis of the child; low capacity of facilities (lack of genetic testing within the system of Compulsory Health Insurance); lack of services needed by the patient (services of psychologists, speech therapists, speech pathologists, physiotherapists, physiatrists, specialists in physical therapy) in the individual rehabilitation program; the need to retain paid medical services.

Keywords: children; orphan diseases; information; rehabilitation; medical services.

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