The Romanian specialists presented the data collected from studies according to which 9 out of 10 patients with rare diseases are misplaced or not at all and for 95% of these diseases there is no treatment.
For 95% of rare diseases there is no treatment yet. Pixabay photo
During an event occasioned by the International Day of Rare Diseases, marked on February 28, the Romanian specialists presented the projects carried out or ongoing in Romania in terms of patients suffering from rare diseases.
Clinical Hospital “Prof. Dr. Alexandru Obregia ”, the Center for Pediatric Neurological Disease Expertise, UMF” Carol Davila “in Bucharest, the College of Physicians and the Romanian Foundation of Neurology and Epileptology – Ronep, in partnership with the National Rare Diseases in Romania and the coalition of the organizations of the patients with chronic diseases.
According to studies quoted by specialists, there are currently between 5,000 and 8,000 rare diseases in the world. Unfortunately, over 95% of rare diseases do not have treatment and 9 out of 10 patients suffering from such diseases are not diagnosed or wrongly diagnosed. The same studies also indicate that the onset of rare diseases is caused by 80% by the genetic factor, and 50% are predominant in children.
“I believe that the exact understanding and definition of all practical and social aspects in the case of rare diseases, where we meet multiple unknown, is essential to manage to find, together with patients, solutions to solve the problems that may arise in the management of such conditions, and by emphasizing the empathic feeling, the patients will be able to understand the patients, which will be able to understand the patients, Doctors, thus leading, together, to the substantial improvement of the medical act ”, said Dana Craiu, a founding member of the Romanian Foundation of Neurology and Epileptology Ronep and pediatric neurologist in the Clinical Hospital “Prof. Dr. Alexandru Obregia ”, quoted in a statement sent to Agerpres.
In his opinion, the continuous training of doctors is essential for the diagnosis and treatment of rare diseases, both in children and in adults.
On the same occasion, two support projects were presented in Romania, “Together for rare” and “big people for young children – epilepsy surgery”, giving details about the most recent investment in private donations, meant to support patients with rare diseases, projects initiated and supported by the Romanian Foundation, Pharmacy “Carol Davila” in Bucharest and the Center for Rare Pediatric Neurological Diseases.
“So far we have been able to take important steps by purchasing a land of 10,000 square meters, which we hope to develop in a short time what we generate” at home “for both the associations of patients with rare diseases and for the doctors of the University of Medicine and Pharmacy Carol Davila in Bucharest, to give the possibility of having a multiple activity suffering ”, said Dana Craiu, President Ronep.
The Ronep project “Big people for young children”, which started in 2018, aims at continuous development of epilepsy surgery programs in children and today benefit from the modernization and endowment of the Center for Rare Pediatric Neurological Diseases. This was possible with the help of several sponsors, the funds obtained and invested in the Clinical Hospital “Prof. Dr. Alexandru Obregia ”amounting to about 200,000 euros.
