Rare Diseases: A Neurodevelopmental Outpatient Clinic at IRCCS San Raffaele

Two million patients in Italy alone, the point on diagnosis, transition and adulthood in the conference promoted by the Roman Institute, AS.MA.RA and CoLMaRe

There are approximately 300 million people living with a rare disease, 5% of the entire world population and 2 million of these are in Italy. In 70% of cases these are pediatric patients. The 'rare' who according to the numbers are not a rarity, have a series of peculiar critical issues, the first concerns the difficulty of arriving at a timely diagnosis.

“A database of rare diseases has been developed at our Institute, which is currently based on more than 300 cases, with particular attention to syndromic forms, identifying the distinctive phenotypes of the various genetic variants. The goal is to identify the evolutionary trajectories of disability, to allow early diagnosis and promote personalized therapeutic and rehabilitative approaches”. This is what Prof. Federico Vigevano, Head of the Department of Developmental Disabilities at IRCCS San Raffaele, explained during the conference “The Burden of Rare Neurological Diseases: from genetic diagnosis to transition” promoted and organized by IRCCS San Raffaele, AS.MA.RA Onlus and CoLMaRe (Coordinamento Lazio Malattie Rare).

“A prestigious work and a commendable commitment that of the San Raffaele Institute” commented the President of the Lazio Region, Francesco Rocca who opened the works “there is no civil society if we are not capable of taking care of the most fragile often forgotten by our National Health System and to do so, in addition to dedicated and adequate paths, it is necessary to invest in the centrality of the professions, the adaptation of contracts and a system of rewards for those who produce research”.

“What many patients and their families experience at the end of pediatric age is a sense of abandonment, a void in care and clinical management for the phase that leads from pediatric age to adulthood,” highlighted Maria Sozio, President of AS.MA.RA Onlus and Colmare.

Many children and adolescents affected by these diseases are carriers of complex disabilities with repercussions on neurological, neuropsychological and psychiatric aspects and repercussions on all adaptive functions, some as a biological outcome of the disease, many others due to the isolation and environmental and social difficulties they experience in life contexts. “It is to fill this void,” explained Vigevano, “that the IRCCS San Raffaele recently opened a polyclinic, which, in collaboration with general pediatricians, aims to intercept neurodevelopmental disorders early, guaranteeing services at ethical prices also for pathologies such as sleep disorders, headaches, movement disorders, specific learning disabilities.”

In Italy, child neuropsychiatry is at the forefront of research and experimentation of innovative pathways. For example, IRCCS San Raffaele, as highlighted by Dr. Amalia Allocca, Health Director of IRCCS San Raffaele, “is experimenting with a new model of approach to these pathologies, having within it specialists in pediatric and adult neurorehabilitation, and is able to study the causes and potential therapeutic weapons through the study of genetic mutations associated with specific rare diseases”.

The event, introduced by Prof. Enrico Garaci, President of the Scientific Committee of the IRCCS San Raffaele, sponsored by the Italian Society of Pediatrics, the Italian Federation of General Practitioners, the Italian Federation of Pediatricians, the Provincial Order of Rome, Surgeons and Dentists, the Italian Federation of Rare Diseases, the Rare Disease Observatory, the Rare Disease Alliance, Active Citizenship, Forum Culture Peace Life, KOS Science, Art and Society, Coordination of Rare Disease Associations of the Sardinia Region and the Third Sector Forum of Lazio, was held today in Rome a few days after the XVII World Rare Disease Day (Rare DiseaseDay) which is celebrated on February 28.