More than 11,000 Sardinians suffer from rare diseases: over 2,000 are children
Fundamental diagnosis and prevention. In Cagliari a conference in the great hall of Palazzo Belgrano
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On the occasion of Rare Disease Day 2023 , Tuesday 28 February at 10 am, the main hall of Palazzo Belgrano hosts the meeting "Rare diseases in Sardinia: present and future", organized by the University of Cagliari with the collaboration of the CcrMr and sponsorship of the 'Rare Diseases Observatory (Omar) and the Coordination of Sardinian Associations (CoReSar).
In Sardinia there are over 11 thousand Sardinians who suffer from it , according to data estimated by the Regional Coordination Center for Rare Diseases of the pediatric clinic of the "Microcitemico" hospital in Cagliari. Among these, more than 2,000 are children.
In Europe , a disease is considered rare when it does not exceed 0.05 percent of the population, i.e. no more than one case for every 2,000 people. To date, there are around 10,000 rare diseases diagnosed, a figure that is growing with the progress of genetic research. There are about 30 million cases in Europe, 2 million in Italy.
The Cagliari conference is aimed, after the limitations imposed for the Covid-19 pandemic, at taking stock of the current situation and discussing new ideas and projects for the near future together with the institutions, the university clinical world and patient associations .
«Rare diseases - the words of Professor Salvatore Savasta, professor of the Department of Medical Sciences and Public Health of the University of Cagliari and director of the Pediatric Clinic and Rare Diseases of the Pediatric and Microcitemic OP - are less rare than one thinks. The problem of diagnosis and assistance of young adults suffering from rare diseases and in particular from malformation syndrome or metabolic disease, has become more pressing and topical day by day . Epidemiological data tell us that the incidence in the pediatric age group of people with these conditions is now equal to 1,200 live births and in the last 20 years, thanks to better and targeted assistance, the survival of patients has significantly improved ».
«The rare disease - he continues - requires not only diagnosis, but also prevention. including secondary education, rehabilitation and psycho-social-economic support. In the field of rare diseases, research is fundamental because it aims on the one hand to discover the causes to intervene at the origin and on the other to identify therapies that improve people's survival and quality of life, with indirect benefits on the social costs for the collectivity. A quick diagnosis is therefore essential. Reducing diagnosis times is an imperative, through the training of clinicians, paediatricians of free choice and general practitioners to facilitate the "transition". No less important is prevention through "neonatal screening" and in this regard the Sardinia Region has guaranteed the extension to hereditary metabolic diseases since 2011, being among other things, for this reason, among the first regions of the national territory . Finally, the collaboration with the patients' associations has certainly changed the relationship between the institutions and the patients for the recognition of the importance of the patient's right to participate in decisions on health planning matters».
(Unioneonline/D)
