Collaboration and sharing to ensure that the patient with a rare disease does not feel lost. This is the objective that the AOU Martino of Messina is pursuing by organizing, with itinerant stages, training meetings with general practitioners and paediatricians of free choice to illustrate the characteristics of the rare disease desk. Today the event promoted in Taormina to continue “networking” by describing the skills of the 17 rare disease centers of the Polyclinic. The initiative – carried out in synergy with the Medical Association of Messina – was designed as a direct comparison to collect ideas and opinions, also on the basis of the daily experiences lived every day by local doctors in their own clinics.
Active since November 2024, the desk dedicated to rare diseases – of which Prof. Salvatore Cannavò is the representative – is a collection of the 17 specialist centers dedicated to rare diseases present within the polyclinic, plus two other European centres.
The rare diseases desk – said Prof. Cannavò – has taken on 347 cases in the last year, of which almost 70% were referred to the reference centre, a small part to other entities; while 20% were people who did not have a rare disease.
Timely diagnosis. This is what patients ask for more than anything. The help desk is aimed at improving communication with patients, families and associations, with the aim of guiding the patient along a process which, if undertaken in the right way, can favor timely diagnoses and targeted treatments, contributing to the reduction of trips outside the region. A specific section has also been created on the company website where it is possible to consult the information sheets of the AOU centers with an internal search engine which allows, by typing the name of the pathology and the exemption code, to find out if the center treats your disease and who the reference contacts are.
“The objective – said the general director Giorgio Giulio Santonocito – is to import organizational models capable of creating functional connections and contaminations to ensure that the patient no longer feels disoriented, but has a well-defined and mapped out path. A model that will also have to be implemented on a digital level to ensure that a patient can be managed in a centralized and online way whose, with a click, the general practitioner or pediatrician of free choice can know the clinical history, facilitating the treatment paths and avoiding inappropriate investigations and tests”.
Various topics were covered on this occasion, including rare diseases in children, in particular the critical issues of the transition to adulthood, an aspect explored in depth by Prof. Tommaso Aversa, pediatric endocrinologist, who highlighted the care models for the management of pediatric care and the importance of creating the best conditions to facilitate a transition which, with a substantial continuity of care, helps the patient to be even more independent.
The prof. Walter Fries, gastroenterologist, focused attention on the importance of multidisciplinary care for the person who has a rare disease, highlighting the objectives that the team must address.
Space was also given to the treatment of data protection and computer data security in the context of the treatment of rare diseases with a speech by General Carlo Villanacci, data protection manager of the Istituto Superiore di Sanità.
Many food for thought emerged from the round table which saw specialists from the Polyclinic, but also representatives of the SIMG, Italian Society of General Medicine, FIMP Italian Federation of Pediatricians, SIMPeF (Union of family pediatricians) and FIMMG (Italian Federation of Pediatricians).
Often – it was reiterated during the discussion – it is not thought that the center of excellence could be in Sicily. The help desk, which acts as a hub for centers that deal with rare diseases, was also created with the aim of making known those entities that have been dealing with and managing certain pathologies for years and for which it is not necessary to go outside the region.
Information is fundamental, but also training to understand how to simplify the patient path and organize it in a structured way with a help desk that can be a filter to understand if the patient’s illness is among those managed in one of the reference centers.
The debate also highlighted the technical problems present today and some limitations linked to the updating of the electronic health record.
“We are in a transition phase – highlighted the general director in conclusion – which could lead to an epochal change in the management of health data and for which we no longer have to look back. The hope is that in the future there may be more and more local doctors interested in learning about the realities that we also have in Sicily. We are proposing a model that can be welcomed and enhanced with the collaboration of everyone and is the structuring of treatment paths, not based on the knowledge of individuals, but within a well-defined and organized system”.