THEThe world of rare diseases in Italy opens a new chapter: Maria Luisa Scattoni will be the leader of the Cnmr, the National Center for Rare Diseases. The nomination made by the ISS, by the Istituto Superiore di Sanità, is intended to be a sign of continuity and, at the same time, of innovation for thousands of families who every day live with pathologies that are often invisible to the eyes of society. It is not, in fact, only to replace a bureaucratic figure, but to introduce a “systemic” vision of medicine that ferries the Center towards a more modern healthcare, where scientific research does not remain closed in laboratories, but become a concrete tool to improve patients’ daily lives.
Rare disease center: the challenge of Maria Luisa Scattoni
Long-time researcher and already coordinator of the National Autism Observatorythe profile of the new director tells a story of commitment in the field. Maria Luisa Scattoni he has dedicated much of his activity to neurodevelopmental disorderscoordinating clinical networks of excellence such as the Nidathe Italian Network for the early recognition of autism spectrum disorders, and the Baby@Net. Projects born and grown with a fundamental objective: surveillance and early diagnosis through the involvement of free choice paediatricians, child neuropsychiatry units and neonatal intensive care units. His experience is also consolidated by the drafting of Guidelines of the Higher Institute of Health for autismessential documents that explain to doctors how to behave to standardize care throughout Italy, preventing a child from receiving different treatments depending on the region in which he lives.
The role of the Cnmr as a bridge between institutions and citizens
In his first official message, the director described the Center as a “bridge”. The idea is that collecting data is not an end in itself, but must transform information into decisions that help the healthcare system function better. In fact, the Center manages the National rare diseases registrythe first tool in Italy created to monitor how many people are affected by these pathologies, where they live and what treatments they receive. The goal for the future is clear: to make health data talk to each other and that the Center becomes the heart of an ecosystem where research, hospitals and public policies work together. This should help to reduce the so-called “diagnostic delay”or the time, often too long, that passes between the appearance of the first symptoms and the discovery of the name of the disease.
Maria Luisa Scattoni is the new director of the National Center for Rare Diseases (Facebook Profile)
Inequalities in care and support for families
But it’s not over: one of the challenges most felt by citizensIndeed, it is the difference in treatment between the various areas of Italy. For this reason, one of Scattoni’s priorities will be close collaboration with the Ministry of Health and the Regions. The idea is to harmonize the PDTAsthe diagnostic-therapeutic care pathways, i.e. the “maps” that guide the patient from the moment of diagnosis to therapy.
A crucial point will concern the transition from pediatric to adult age. Often, in fact, when a boy with a rare disease turns 18, finds himself in a welfare “limbo”. because the services for children are no longer competent and those for adults are not yet ready to take care of him. The Center’s new course aims to create fluid paths that take into account the person’s “life plan”.integrating medical care with social and community support.
Newborn screening and undiagnosed diseases
Prevention plays a leading role. The Center will continue to strengthen the system of extended newborn screeningthose tests carried out at birth that allow the early identification of dozens of hereditary metabolic diseases. First we intervene, the greater the possibility of limiting the damage of the pathology. At the same time, great emphasis will be placed on “undiagnosed diseases”. There are cases of very high complexity where medicine has not yet managed to give a name to the problem. In these situations, the Center is committed to acting as an intermediary with international networks of expertsso that no one feels abandoned or excluded from treatment paths just because their illness is still unknown.
Maria Luisa Scattoni, beyond medicine: the value of humanity
Finally, the new management intends to maintain a strong bond with the patient community through direct listening tools. The Rare Diseases Hotline800 89 69 49, and the institutional portal they will remain the points of reference for those seeking certain information in a sea of often confusing news. An innovative aspect highlighted by Scattoni concerns the Health humanities. This is an approach that not only looks at the medical record, but enhances the human experience of the patient, using storytelling and listening to improve the quality of services. The alliance with patient associations, such as Let’s unitethe federation that brings together over 150 rare disease associations in Italy, will be the driving force of this change, to ensure that science always remains at the service of people.
