Increase knowledge and skills on rare diseases and strengthen the link with local paediatricians to correctly guide the diagnostic and care path of the newborn/child with rare pathologies, this year with a focus on those that can cause a neurometabolic disease. These are the main objectives of the congress “Children with rare diseases and disabilities, from diagnosis to assistance”, promoted by the Lega del Filo d’Oro Ets Foundation together with the pediatric clinic of the university hospital “Ospedali Riuni Ancona Umberto IG.M . Lancisi-G. Salesi” and the Polytechnic University of Marche.
The initiative, now in its third edition, will take place on 7 and 8 June at the National Center of the Lega del Filo d’Oro (via Linguetta, 3 – Osimo) and is dedicated to pediatricians in the Marche region, but also to all the professional figures involved in the diagnosis and treatment of pediatric patients suffering from genetic malformative or metabolic diseases and their families.
“The collaborations with the pediatric clinic of the Ospedali Riuni University Hospital of Ancona and the Polytechnic University of Marche are very important for the Lega del Filo d’Oro – declares the president of the Foundation, Rossano Bartoli –. They confirm how much the organization believes in technical-scientific activity to support not only the educational rehabilitation process, but also social inclusion in the area”.
For Maria Elena Lionetti, director of the Pediatric Clinic, “initiatives like this represent a precious moment of relationship and meeting, not only for the very important aim of improving the quality of life of children and their families, but also to establish a closer bond with local medicine”.
“In 2023, almost half (44%) of the people arriving from all over Italy at the Diagnostic Center of the Lega del Filo d’Oro had a rare pathology, currently among the leading causes of deafblindness and multiple psychosensory impairments. These are often complex situations to deal with: dealing with a rare disease can generate strong insecurity in those affected and their families caused by the difficulty first of all in having a certain diagnosis and, secondly, in finding treatments solutions – says Patrizia Ceccarani, technical-scientific director of the Lega del Filo d’Oro Foundation –. Opportunities for relationships and meetings such as the conference that we will host at the National Center are fundamental for training and informing pediatricians and all professionals involved in the diagnosis and treatment processes on these issues, so that they know how to correctly orient the patient and direct the appropriate therapies. Giving a name to the disease is fundamental, just as it is important to reach a diagnosis from the first days of life, in order to begin the therapeutic path indicated for the specific case”.
With the aim of responding in an increasingly adequate manner to the health needs of its users, since 2022 the Lega del Filo d’Oro has strengthened its collaboration with the School of Paediatrics of the Polytechnic University of Marche: the specialists provide their services for a month at the National Center of Osimo, also immersing himself in the health, nursing, educational and rehabilitation aspects of the course.
