Rome, November 21 (Adnkronos Health) – “Rare diseases are one of the sectors where the structural fragility of our healthcare system is most clearly visible: diagnostic delays, territorial gaps in access to services, service pathways that are not always integrated and a level of social awareness that is still inadequate. Myasthenia gravis, a rare autoimmune disease that affects at least 17 thousand patients in Italy, is a clear example of this critical problem, but also a demonstration of how, thanks to collaboration between institutions, health professionals and patient associations, it is possible to turn difficulties into opportunities, thereby truly improving the quality of services and the lives of the people involved”. This was reiterated by Ugo Cappellacci, Chairman of Commission
“Living with myasthenia gravis is very difficult – explains Marco Rettore, president of Am-Associazione myasthenia Odv – because it is a very disabling disease, but also very fluctuating: in remission, if the disease is properly controlled pharmacologically, the signs and symptoms are relatively under control, but when the crisis arrives the disease becomes very severe, we lose autonomy, we are no longer able to climb stairs, brush our teeth, working becomes impossible”.
“Myasthenia gravis is often an invisible but highly impactful pathology – explains Renato Mantegazza, head emeritus of Neuroimmunology and Neuromuscular Diseases, Irccs Foundation of the Carlo Besta Neurological Institute of Milan and president of Aim (Italian Association of Myasthenic and Immunodegenerative Diseases – Amici del Besta Odv) – that compromises strength, endurance and continuity of work, with significant economic and social impacts for patients and caregivers. International data shows work refusal, reduced income and the need for family support, while access to law 104 remains uncertain and uneven due to non-uniform assessment. Even the most sophisticated therapies are difficult to adapt to professional commitments and daily life, especially due to logistical barriers and regional differences. It is essential to guarantee uniform pathways, adequate evaluation criteria and flexible organizational solutions, so that inclusion and treatment do not depend on the case but on real and recognized rights.”
Lorenzo Maggi, director of Neuroimmunology and Neuromuscular Diseases at Besta, recalls that “in recent years myasthenia gravis has experienced a true therapeutic revolution: from a situation of substantial scarcity of options, we have moved to the availability of innovative, targeted and biologic drugs, which open up hitherto unthinkable scenarios. However, guaranteeing a truly personalized treatment remains complicated outside referral centers with highly specialized skills, where clinical experience, multidisciplinarity and the ability to make advanced therapeutic options It is therefore important to build a structured national network system, linking professionals, centers and regions, so as to offer equal treatment opportunities to all patients, wherever they live”.
For Elena Murelli, of the Senate Committee on Social Affairs, Health and Employment, “the progress achieved through AIFA reform and improvements in the evaluation time of innovative medicines that are orphans, that respond to unmet medical needs, or for which no formal therapeutic alternative is available, is an important, but not enough signal for those living with complex pathologies such as myasthenia gravis. We are talking about patients who cannot afford to wait long for access to innovative therapies of high clinical value, especially those who are orphans or do not have access to innovative therapies of high clinical value.” It is important to continue to simplify pathways and strengthen early and uniform access mechanisms across the national territory.
During the event there were various institutional interventions, starting with congratulations sent by Deputy Minister Marcello Gemmato. Then spoke Senator Guido Quintino Liris, of the Fifth Standing Committee of the Republican Senate, Senator Orfeo Mazzella, vice president of the Commission
Despite major therapeutic advances, there remains a lack of homogeneity in regional organizations specializing in myasthenia gravis, resulting in inhomogeneous opportunities and levels of assistance based on geography. “In Sardinia, where the number of patients is very high, the clinical network has been renewed, but our association believes that it is necessary to add further nodes to the network, and for this purpose we will organize ourselves to activate direct dialogue with departments”, explains Maya Uccheddu, from Aim Sardegna. In Puglia “we are actively working to define clear and common pathways, with the aim of guaranteeing quality and multidisciplinary help – say Antonia Occhilupo, secretary and scientific director of the Myasthenia Gravis Association Aps Lecce, and Paolo Alboini, of the Irccs Neurology Unit at the Casa Sollievo della Sofferenza San Giovanni Rotondo hospital in Foggia – but there is still a lot of work to be done, and the national patient registry is certainly an important tool to enable proper resource planning as well at regional level”.
In Sicily “the presence of several highly specialized centers makes timely access to advanced skills and innovative therapies even more complex”, says Carmelo Rodolico, head of the Regional Reference Center for research, diagnosis and treatment of myasthenia gravis in Messina and director of the Unit of Neurology and Neuromuscular Diseases, university hospital ‘G.Martino’ in Messina. “In Tuscany, the city center of Pisa also represents a national reference point, welcoming many patients from outside the region with inevitable difficulties related to the administration and reimbursement of medicines”, explains Michelangelo Maestri Tassoni, Department of Neuroscience, Pisan university hospital. “This once again underscores the need for coordination that goes beyond regionalization of health services, at least for complex pathologies such as rare diseases.”
“In Campania we are trying to build a regional Pdta according to the hub&spoke model – reports Francesco Habetswallner, director of the Aorn Cardarelli Neurophysiopathology Unit in Naples – capable of linking reference centers and territorial structures and ensuring integrated care. However, it is clear that at national level there are still critical operational problems, starting precisely from the lack of homogeneity in access to diagnostic, nursing and therapeutic care, which hinders uniformity of care.” Another positive experience comes from Veneto, where there is an organized and functioning network. “All this emphasizes the need for national coordination capable of building networks – commented the Chancellor – to standardize pathways and guarantee equal treatment opportunities in all regions, without exceptions or disparities.” Senator Sbrollini, member of the Rare Diseases Intergroup of Parliament, spoke on regional topics: “Doctors, patients and institutions must work together to ensure that health policies are not just on paper: they must be translated into action at regional level, and this is only possible through the sharing of priorities and investments between States and Regions. As the Intergroup of Rare Diseases – he concluded – we will continue to be a reference point in Parliament to guide the Government’s choices and encourage policies that put patients first. This is the commitment I made today: to open the discussion table with associations and doctors, to translate these priorities into real action”.
