On World Rare Disease Day – 28 February, when various awareness initiatives are being held worldwide, the doctors from the Department of Paediatrics at UMHAT “St. Marina"–Varna and from the Department of Paediatrics at MU-Varna reveal the numerous challenges they face in the process of diagnosing and treating children with rare diseases in Bulgaria.
“Rare Disease Day is the time to look back on what has been achieved in the fight against rare diseases in children, and also a day to pay attention to the plenty of daily challenges that both we as doctors, and our young patients and their parents face," said Prof. Dr. Violeta Yotova – Head of First Paediatric Clinic with Paediatric Intensive Care Unit (PICU) at the Varna University Hospital “St. Marina". The Clinic is the main paediatric unit in North-eastern Bulgaria for treating difficult in diagnostic and therapeutic terms cases in all areas of Medicine, as well as for providing intensive care and resuscitation for adolescents in acute and chronic conditions, for newborn babies and infants in critical condition. Children with rare diseases are also treated at the Clinic.
Prof. Yotova underlined that, on a global scale, the networks of expert centres, established in the European Union in 2017, were one of the crucial steps in uniting the efforts to combat rare diseases. UMHAT “St. Marina"–Varna is part of the largest European Network for Diagnosis and Treatment of Rare Endocrine Diseases – Endo-ERN, which includes 111 Reference Centres (RCs) from 28 countries, as well as part of the European Reference Network on Rare Haematological Diseases (ERN-EuroBloodNet), which includes 96 hospitals from 18 countries. The Varna University Hospital is represented in the European networks by the Expert Centre for Rare Endocrine Diseases and the Expert Centre for Coagulopathies and Rare Anaemias. The third such structure at UMHAT “St. Marina" – the Cystic Fibrosis Expert Centre is about to join the networks as well.
According to Prof. Yotova, the main objective of these centres is more and more patients to be provided with modern diagnosis and treatment by multidisciplinary teams, without the need to travel to other countries for obtaining this — i.e. to bring the expertise to the patient, and not vice versa. The specialist emphasised that intensive research, registries and training events were also being developed at the same time. The direct involvement of patients through their representatives in developing the work of networks, including in the training and research process, is also a very important aspect.
According to statistics, there are more than 36 million children and adults in Europe affected by some rare disease (frequency of less than 1 in 2000 people), and specialists point out that every day is a challenge for most of these people. Just a few years ago, patients with rare diseases were considered doomed. However, with the accumulation of knowledge and the increase of treatment options, the fate of a large number of them have changed sharply. Nowadays, a lot of patients, both children and adults, not only survive but also enjoy a good quality of life.
The development of highly specialised activities at Medical University–Varna and UMHAT “St. Marina" in all areas of Paediatric Medicine is a direct consequence of the long-term experience and acquired knowledge and skills by the team of the Department of Paediatrics, which is also the foundation of the Expert Centres for Rare Diseases. In 2023 the Department celebrates its 60th anniversary, and its achievements are not only a reason for taking pride of them, but also an increasing responsibility for its highly qualified team in protecting the life and health of the youngest patients.
