of the press conference on the presentation of the World Congress on Rett syndrome and the Round Table «medical and social support and quality of life for girls with Rett syndrome»
On January 30, 2015 in the Civic Chamber of the Russian Federation on the initiative of the Civic Chamber of the Republic of Tatarstan and the Association for Assistance to Rett syndrome patients the following events were held:
2. Roundtable on «Medical and social support and quality of life for girls with Rett syndrome» topic
Presentation of the World Congress on Rett syndrome, which is proposed to be held in Kazan in May 2016 was held at the press conference.
Following people took part at the press conference:
1. Alexey Sozinov — Rector of Kazan State Medical University, member of the State Council of the Republic of Tatarstan, MD, Professor
2. Vera Zvonareva — the founder of the Association for Assistance to Rett syndrome patients, Honored Master of Sports,
3. Ivan Yurov — Chairman of the Scientific Committee of the Congress on Rett syndrome, Sc. D., Professor, Department of Medical Genetics, Russian Medical Academy of Postgraduate Education (RMAPO), Head of the Laboratory of Molecular Genetics, brain Mental Health Research Center of the Russian Academy of Medical Sciences).
4. Olga Timutsa — Director of the Association of Rett syndrome (Kazan) — Deputy Chairman of the Commission on Social Policy of the Public Chamber of the Republic of Tatarstan, Associate Professor, Candidate of Social Sciences.
5. Thomas Bertrand — President of Rett Syndrome Europe, board member of the French Rett Syndrome Association.
6. Sergey Kutsev — Chief Specialist in medical genetics of Russian Ministry of Health, Deputy Director for Research Medical Genetic of the Research Federal Agency of Scientific Organizations
7. Elena Dementieva — Olympic champion in 2008 and silver medalist in the 2000 Olympics in the women’s tennis singles, Federation Cup winner in 2005 in the Russian team, former world № 3 in singles and former
8. Irek Zinnurov — Member of the Civic Chamber of the Republic of Tatarstan, Olympic medalist (water polo), World Cup winner, Honored Master of Sports.
In opinion of the rector of Kazan State Medical University Alexey Sozinov. recently, the Russian problems of patients with rare diseases are becoming increasingly important. People with Rett syndrome, as well as patients with other rare diseases, require attention and help of the society. The World Congress on Rett syndrome in Russia is intended to draw public attention to the problems of social support and quality of life for girls with Rett syndrome, stimulate their solving. The feature of the Congress is that this is not a scientific meeting but it is the association of sociologists, doctors, specialists, members of the public, patients and their relatives. The basis of such events are always caring people. Kazan is no coincidence chosen to host the Congress. Tatarstan has some experience of such events. In September 2011, Kazan hosted the European Congress on issues related to Rett syndrome. Organizers expect that about a thousand participants will come to the Congress, among them scientists, doctors, representatives of the executive and legislative branches. Relatives and patients will be invited as well. The program will include research activities: workshops, round tables, plenary sessions, an exhibition of rehabilitation and medical equipment. In addition, there will be charity events, workshops and parent school; there will be an the opportunity to get acquainted with the experience of medical and rehabilitation institutions of Kazan. Vera Zvonareva gave the official start of the campaign «Contribution to Sun Angel» and auction to benefit the Rett syndrome research and care for children with Rett syndrome in Russia: «I hope that our action will attract the attention of society and the state to rare diseases. For us it is very important. The collected funds will go to help families, children, research. Generally, in our
Elena Dementieva supports the initiative of Vera Zvonareva not for the first time. In 2011, she played a charity match in Kazan in support of girls with Rett syndrome. «I recently became a mother myself and I understand that childhood diseases are an ordeal for parents, especially for parents of children with rare diseases. They need support and help, they can not be left alone." Elena gave her racket to the Association for the auction.
Olga Timutsa: problems of late diagnosis, lack of awareness of physicians about Rett syndrome and methods of treatment are relevant for Rett syndrome, as well as for all rare diseases. Now there are 153 registered children with Rett syndrome in the Association. When the association has just appeared, there were only 27 of them. «When a doctor is not sure about the diagnosis, the parents need to bring their child to Moscow to take a blood test for the mutation. Not every family can afford it. First, a child at this early age has no disability, no quotas, disability pension. The family has to find the money for travel, accommodation, on the analysis itself, since it is paid. And mutation gene can not immediately be detected. Analysis costs 10–40 thousand rubles. And as long as the child is not diagnosed, the doctor can not do anything. The main work of the Association for assistance to Rett syndrome patients is to inform the community, parents, the medical community about Rett syndrome. Among the projects of the organization there are Academy of patients for people with rare diseases, an educational project for future doctors about Rett syndrome and rare diseases, as well as the project " the diagnosis does not change the child, it changes you» for parents of children with Rett syndrome, including several video broadcasting. The Association provides information and advisory services and assistance to families in which there are people with Rett syndrome, as well as institutions that promote health and educational research of Rett syndrome. Today, the association is known in 66 countries and 76 regions of Russia.
Kutsev Sergey — Chief Specialist in medical genetics of Russian Ministry of Health, Deputy Director for Research Medical Genetic Research Center of the Research Federal Agency of Scientific Organizations. On the one hand I represent the medical community of doctors, geneticists, on the other hand I represent our ministry of health. We often say that the patient should not be left alone with his problem. Here is wonderful situation where doctors are not left alone, there is a patient Association, there is a community of people who are interested in helping these patients in the researches. Neither one problem can be solved only by the Ministry of Health, only joining forces can move the problem. In the Russian Federation in recent years a system to help people with rare diseases was created, the register of rare diseases was designed.
President of Rett Syndrome Europe Thomas Bertrand said that at present in Europe there are about 15 thousand children with Rett syndrome: «But if you consider that the syndrome occurs in one person at 20000 of people and take into account the entire population of Europe, you will see how many patients we are missing. Around the world, every 20 minutes a girl with Rett syndrome is born. Our goal is to inform as much professionals, specialists, parents, people around the world who might be interested in helping as possible about this disease. Children with this disease are rare, but experts who can recognize the disease, and people who care about them are even rarer.»
Irek Zinnurov invited anyone who is interested in solving problems of people with Rett syndrome, in Kazan in 2016, a city with a thousand years of history, rich culture and traditions, the way of the modern comfort of a beautiful city.
After the press conference, a round table meeting was held. Its purpose was to draw attention of the authorities and the public to the mentioned problems, as well as stimulate their solving.
For Rett syndrome, as well as for all rare diseases, there are common problems: late diagnosis, lack of federal registry of the disease, lack of awareness of physicians about Rett syndrome and methods of treatment, difficulties in obtaining the necessary medicines and other special therapies, lack of offices that specialize in the treatment of patients with Rett syndrome.
In addition to the press conference, following people attended in discussion: Member of the Federation Council Committee on Social Policy Vladimir Krugly; Chairman of the Commission for the protection of health, physical education and promote healthy lifestyles Vladimir Neroyev; Irina Andreeva, Assistant Minister of Health of the Russian Federation; Chief Specialist in medical genetics Russian Ministry of Health, Deputy Director for Research Medical Genetic Research Center of the Research Federal Agency of Scientific Organizations Sergey Kutsev; Victoria Voinova, a leading researcher at the Research Institute of Clinical Pediatrics Medical University RNIMU of Pirogov of the Russian Ministry of Health, MD; Natalia Semashkova, head for the Study of Child Psychiatry study with a group of infantile autism Mental Health Research Center of the Research Federal Agency of Scientific Organizations; Mark Tulchinsky, Laboratory Supervisor of the CLS — Russia (St. Petersburg); Yuri Yurov, head of the Laboratory FGBNU of Mental Health Research Center, Ph. D., Professor, Honored Scientist of the Russian Federation; Svetlana Vorsanova, head of the Laboratory of the Research Institute of Clinical Pediatrics Medical University RNIMU of
Video of the press conference and a meeting of the Round Table can be found on the website of the Public Chamber of the Russian Federation https://www.oprf.ru/press/conference/1469
Proposals of Resolutions of the extended meeting of the working group «Association for Assistance to Rett syndrome patients» in preparation for the World Congress on Rett syndrome, which were made in the course of discussions will be communicated to stakeholders, and are included in the final resolution of the Forum dedicated to the Day of rare diseases, which will be held in the Civic Chamber on February 27.