ROME (ITALPRESS) – An event dedicated to World Rare Disease Day was held today in Rome, an opportunity for discussion that focuses public debate on the challenges related to early diagnosis, access to treatment and improving patients’ quality of life. The meeting, organized with the nonconditional contribution of Incyte Biosciences Italy and Chiesi Italia, was attended by representatives of institutions, clinicians and patient associations. In Italy there are an estimated 2 million people affected by rare diseases known to date, with 70% of cases in pediatric age. Diagnostic delays and uneven access to care continue to represent major barriers for patients and their families, making a synergistic effort between institutions, the scientific community and the territorial network crucial. In light of this, Giorgio Mulè, Vice-President of the Chamber of Deputies, spoke on the importance of a cross-cutting commitment to the management of rare diseases: “Our priority must be to reduce regional inequalities. For too many patients, the diagnostic pathway remains an odyssey, and we must ensure that every citizen, regardless of their Region of residence, can receive timely answers. Rare diseases must become a structural priority of the National Health Service, through investment in research, early diagnosis, and strengthening care networks.” Reinforcing the message, Patrizia Marrocco, Vice-Chairwoman of the Parliamentary Commission of Inquiry into Working Conditions in Italy, Exploitation and the Protection of Health and Safety in Public and Private Workplaces, stresses the importance of the role of institutions in including children with rare diseases and their families: “Cohesion between the National Health Service and schools is essential to ensure adequate levels of care to improve the quality of life of patients, identifying appropriate hubs and reference centers. It is also important to ensure access to innovative treatments, promoting scientific research and fostering public-private collaboration through psychological and social services for inclusion.” This principle finds concrete application in the work of the National Center for Rare Diseases of the Istituto Superiore di Sanità, established in 2008 to support the national network through the National Rare Disease Registry and coordination on newborn screening. Marco Silano, director of the National Center for Rare Diseases of the Istituto Superiore di Sanità, focused on the strategic value of early diagnosis, stressing that it is the key to improving the prognosis and quality of life of patients: “Many of these conditions manifest themselves in the first years of life, but diagnosis can delay years, compromising the chances of intervention. Uniform newborn screening programs and a concerted effort are needed to overcome the bureaucratic and territorial obstacles that still persist.” A topic taken up by Liliana La Sala, Director of Office 9 – Protecting Women’s Health, Vulnerable Subjects and Countering Inequalities of the Ministry of Health, who noted how disparities in access to care particularly affect women: “Territorial and gender inequalities continue to be an obstacle for rare patients. Women are still diagnosed later than men, with significant consequences on the course of the disease and access to treatment.” The need for uniform diagnostic and therapeutic pathways emerges strongly for diseases that are considered rare but whose true prevalence appears to be increasing due to advances in diagnosis, such as cardiac amyloidosis and squamous cell carcinoma of the anal canal (SCAAC). Giuseppe Limongelli, director of the Campania Region Rare Disease Coordination Center, spoke on the topic, illustrating how “the real incidence of amyloidosis is much higher than official estimates indicate. We need standardized diagnostic pathways, targeted training of General Practitioners, and uniform criteria for the reimbursability of treatment, so as to ensure that patients have equal access to treatment throughout the territory.” Squamous cell carcinoma of the anal canal is another example of how early diagnosis radically changes the course of the disease. For Federica Morano, Medical Director of the Department of Medical Oncology 1 at the Fondazione IRCCS Istituto Nazionale dei Tumori in Milan, “cancers of the anus are relatively rare even though their incidence rate has increased over the past few years. One of the main risk factors is human papilloma virus (HPV) infection. As with other cancers, there are pre-cancerous conditions for carcinoma of the anus that could be detected early, with appropriate screening procedures, or prevented, by reducing exposure to risk factors. The choice of treatment depends on many factors such as stage, initial site, and the patient’s general health condition, but new therapeutic strategies are on the way.” The event, held under the patronage of UNIAMO – Italian Federation of Rare Diseases and FIMP – Italian Federation of Pediatric Physicians, provided an important opportunity for discussion among institutions, the scientific community and patients. Marcello Bettuzzi, Councilor of UNIAMO, and Antonio D’Avino, President of FIMP, drew attention to the urgency of uniform and accessible diagnostic pathways in every region. The debate concluded with a unanimous consensus: to strengthen the care network, overcome territorial inequalities, and transform shared commitment into concrete interventions to guarantee every patient the right to timely diagnosis and adequate treatment.
-photo press office Esperia Advocacy.
(ITALPRESS).
Rare Diseases: ensuring equity in access to diagnosis and treatment
