A summit at the Ministry of Health dedicated to rare diseases. The story of little Maurizio De Santis, a 3-year-old boy from Palermo suffering from a severe form of epileptic encephalopathy with neonatal onset (he is the only one in the world to suffer from this genetic mutation), reaches Rome.
From their home in Romagnolo they reached the whole world to try to find a therapy that could cure their child and, now, the determination of this family also reaches the top of politics. “After several months of attention to the case by the community, by the newspapers, but also by Sicilian politics – says Giovanni, the father, in PalermoToday – through the availability of Senator Giammanco, we are able to have an interview with the Ministry. our story to Undersecretary of Health Pierpaolo Sileri, but also our daily problems and those related above all to scientific research “. To tell about this meeting Sileri himself who, through his Instagram profile, writes: “I met little Maurizio, suffering from a serious ultra-rare genetic disease. It is the only case in Italy of Grin disorder, one of about 7 thousand known rare diseases. Maurizio can be the son of each of us. Even a single rare patient counts. For him, for his parents, for all rare patients and for their families, I renew my commitment to carry on the activities in progress by the institutions, the legislator, the Parliament. Among these, the new National Plan for Rare Diseases, at a very advanced stage of updating, the Consolidated Law on rare diseases, which finally determines the legislative perimeter so far completely absent; and the work of the specific technical table on the subject of rare diseases, which I wanted to establish to create a system and above all to get the requests of patients, too often pediatric, to the institutions “. A small piece, therefore, in a long battle in which Maurizio and his family are not alone. “At the moment they are just projects, but there is a commitment to make them become quick and productive – says the father -. We cannot wait any longer, there is little time for Maurizio. I hope national collaborations with the Meyer in Florence, the hospital where my son is being treated, and the Bambino Gesù, Department of Neuroscience, in Rome. A strong push, even internationally, is needed for research. Maurizio is a single case, he is the only world by variance and gravity, but it needs the support of everything. We thank Undersecretary Sileri and his staff for humanity and availability, hoping that the commitment on the part of this respectable man of institutions will always be constant “.
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