On November 16-20th, 2017 a number of events focused on rare diseases were held in the Almazov National Medical Research Centre.
Rare (orphan) diseases are usually genetic conditions that appear in a small group of population. Many orphan diseases manifest in childhood, and around 30% of children do not live to be 5 years. The list of orphan diseases approved by the Russian Ministry of Health includes 214 medical conditions. There are 13 thousand people in Russia suffering from rare diseases.
On November 16th, 2017 a press conference entitled Orphan diseases: challenges, opportunities, perspectives was organized in the Almazov Centre. Among the speakers, there were Chief Specialist on Medical Genetics of the Ministry of Health, Dr. Sergey Kutsev, Deputy General Director for Science of the Almazov Centre Prof. Alexandra Konradi, Director of the Institute of Perinatology and Pediatrics of the Almazov Centre Dr. Tatyana Pervunina and others.
The experts drew public attention to hard struggles of patients with orphan diseases and their parents, challenges that the medical community have to face, the problems of early diagnostics, medical care as well as possible approaches to the solutions.
The main issues are early diagnostics and expensive pathogenetic treatment (if it is possible) unaffordable for patients and regional ministries of health. Dr. Sergey Kutsev mentioned that diagnostics of rare genetic diseases has improved in Russia in the past several years which is linked to development of genetic technologies. However, treatment standards on many orphan diseases have not been established yet, so the patients continue to experience difficulties.
Cases happen when correct diagnosis is made 15-25 years after the first symptoms (for example, Fabry disease). Director of the patients’ association “Genom” Elena Khvostikova added that patients undergo a long way from the moment of diagnosis to starting the therapy – it usually takes 7-27 months.
The Federal Telemedicine Centers are the great hope for such patients as they provide a way to get a consultation form any specialist. It can also be helpful to include more medical conditions in the list of obligatory neonatal screening tests.
Dr. Tatyana Pervunina spoke about the facilities in the Almazov Centre aloowing managing patients with orphan diseases. Multi-disciplinary and at the same time personalized approach, stage-by-stage specialized high-tech medical care within one medical center allow exploring new ways of treatment. There is also a possibility to manage a patient with an orphan disease from newborn to adult within the Perinatal Centre and Rehabilitation Clinic for Children and later on in adult departments.
On the same day, a photo exhibition “Overcoming” was presented at the Almazov Centre. The exhibition presented images of families with children who have rare diseases. Each of them is a unique example of great courage and great hope.
Multi-disciplinary conference “Orphan diseases. Diagnostics. Treatment. Rehabilitation” was held on November 17th and School for Parents “A child with a rare disease” took place on November 18th in the Almazov Centre for the first time.
The meetings were organized by the Almazov National Medical Research Centre, Saint-Petersburg Healthcare Committee, the Union of Pediatricians of Russia and the leading medical universities of Saint-Petersburg and North-West region.
The conference was dedicated to hot topics in treatment and rehabilitation of children with orphan diseases, difficulties in diagnostics as well as clinical aspects. The scientific programme of the conference included lectures, plenary talks, scientific symposia with interactive discussions.
The school for parents “A child with a rare disease” offered lectures, briefings “doctor-patient” and “doctor-parent”. In the meantime, children participated in the entertaining programme.
Participants of the school learned how different orphan diseases progress and what complications are to be expected, found out about the available medical resources for diagnostics and treatment of rare pathologies, physical and social rehabilitation and improvement of quality of life.
On November 20th, on the World Prematurity Day, an Inter-Regional Round Table “Premature Newborn” was organized in the Almazov Centre. Among the discussed topics there were: prenatal diagnostics of orphan diseases; newborn's life outside intensive care units; targeted regional programmes. The project is aimed at drawing attention of medical community and general public to doctor's responsibility for the future of children born prematurely.