Nand world, 300 million people coexist with a rare diseaseand a significant percentage of these patients, especially children with mental disabilities or complex syndromes, remains without a diagnosis. In Italy, there are about 2 million, with over 100,000 still waiting for an answer. In this scenario of uncertainty and difficulty, theBambino Gesù Pediatric Hospital It stands as a fundamental reference point for “invisible patients” and their families. And from now it will also coordinate the nascent Regional Network of Rare Diseases of Lazio e European reference networks (Ern), collaborating with other centers of excellence at national and international level .ù
Rare diseases, a difficult and painful diagnostic path
The life of people affected by unable rare syndromes is a long and winding odyssey. The unavailability of a diagnosis, in fact, involves delays in taking charge and carewith potentially irreversible consequences. These patients and their families often feel alone and abandonedwithout a name to give to their suffering, without a clear path to follow.
The Child Jesus: an excellence
The Bambino Gesù Pediatric Hospital has been distinguished for a long time for his commitment in the research and care of rare diseases. Since 2014, the hospital has identified about 100 new disease genes, an extraordinary result that opens new perspectives for the treatment of these pathologies. Furthermore, Since 2016 it is active A dedicated clinicfirst in Italy of its kind, which offers an integrated approach by combining clinical experience and scientific research.
At the helm of the clinics network, the Bambin Gesù hospital (Getty)
A national network not to leave anyone behind
Strengthened by his experience, the Child Jesus will begin to coordinate the nascent “Italian Network of rare diseases not diagnosed“,, to which 24 Italian hospitals have already joinedincluding 11 IRCCS, active in 14 regions. It will be a real national network of clinics dedicated to listening and taking charge of rare patients without diagnosis. Work on the net, in fact, will allow you to share methodologies and harmonize interventions and protocolscreating social and health paths.
Rare diseases: appeal to solidarity
It is essential that civil society, institutions and the world of research join. Only through a common commitment, in fact, It will be possible to guarantee these patients a diagnosis, a cure and a better quality of life.
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