The Bambino Gesù pediatric hospital participates in 20 European Networks (ERN) and is the reference for 23 Centers of the Lazio Regional Network for rare diseases. On the eve of World Rare Disease Day on 28 February, the Hospital also announces the opening of a path dedicated to Kabuki syndrome, dedicated to the diagnostic classification and care of children and young people with this pathology. A rare disease of genetic origin associated with intellectual development delay, feeding difficulties with stunted growth in weight and height, congenital malformations and typical facial features.
The incidence is 1 new born in 32,000, but it is probably underestimated. It emerges from an online round table organized together with the Observatory for Rare Diseases (OMaR) and Orphanet.
The event focuses attention on the importance of ERNs. To date, over 300 hospitals in 26 countries participate in the European Networks and the Bambino Gesù is the first European pediatric center by number of affiliations, being accredited to 20 of the 24 ERNs established to date. Also for the regional networks for rare diseases, the Bambino Gesù is the institute with the highest number of reference centers assigned: 23 out of 107. More than 62,000 people with rare diseases are registered in the Lazio Regional Network. Of these, 1 out of 4 (26%) is in the pediatric age. Those followed by the Child Jesus and registered in the Networks are more than 17,000. Number that reaches 25,000 if we include patients not yet diagnosed and not yet enrolled. The new path dedicated to Kabuki syndrome is aimed at facilitating diagnosis and management. The family is entrusted to the child’s “Case-Manager” who guarantees the personalization of the course, the coordination of interventions and the activation of genetic studies. “The fully operational project – concludes Professor Bruno Dallapiccola, Scientific Director Emeritus of the Hospital – involves the creation of a national network of centres, which will harmonize the protocols for taking charge with a multi-specialist approach, guaranteeing equal opportunities throughout the territory for affected persons, the creation of a biobank and a website”.
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