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Via libera in Stato-Regioni al Piano nazionale delle Malattie rare 2023-2026. Per attuarlo stanziati 50 mln. Diagnosi più rapide, migliore erogazione dei farmaci e assistenza integrata - Quotidiano Sanità (quotidianosanita.it) Rare Diseases represent a real challenge for the Italian National Health System. They are a heterogeneous group that gathers between 7 and 8 thousand different pathologies, some still unnamed; and involving, globally, about 300 million people, a figure equal to 8-10% of the world population, it is therefore a matter of public health and global health. A disease is considered rare if, in the general population, it has a prevalence lower than a given threshold, codified by the legislation of each individual country. For many rare diseases, both diagnosis and treatment can be difficult, both due to a low level of medical-scientific knowledge, and due to the little interest, that pharmaceutical companies have and would have in the research and production of drugs that can be used by very few customers, which have a prevalence of less than 5 cases per 10 000 people. The Ministerial Decree n. 279 of 18 May 2001 provides for the establishment of a national network dedicated to rare diseases, through which to develop prevention actions, activate surveillance, improve interventions aimed at diagnosis and therapy, and promote information and training. A provision already unanimously approved by the Chamber of Deputies on 26 May 2021 is currently under discussion in the Senate, which dictates provisions aimed at guaranteeing the treatment of rare diseases and support for the research and production of orphan drugs aimed at the therapy of these pathologies. The text governs various aspects, from research to the importation of medicines from abroad to support, care and assistance for people affected by these diseases. It is also foreseen the allocation of funds for preclinical and clinical observational studies promoted in the field of rare diseases. According to data coordinated by the National Register of Rare Diseases of the Higher Health Institute, 20% of diseases involve people of pediatric age (under the age of 14), in this patient population the rare diseases that occur most frequently are congenital malformations (45%), diseases of the endocrine glands, nutrition or metabolism and immune disorders (20%). Eight out of 10 cases are diagnosed by the specialist and general practitioners 2 hypothesize a rare disease in only 4.2% of cases (pediatric 16.75%). It is estimated that a general practitioner with 1,500 patients should have 4 to 8 patients with rare disease in care. Even when the diagnosis is made by a referral center, it is often the patient himself who acts as a liaison with his doctor. Moving towards a form of integrated clinical networks for patient care shared between general medicine and specialist medicine is what is required by patients and associations. In 2021 the Italian Society of Pediatrics (SIP) and the Italian Society of Pediatric Genetic Diseases and Congenital Disabilities (SIMGePeD) decided to carry out a survey on 11,000 pediatricians to understand their perception of the condition that brothers and sisters live of patients with rare diseases within families. In recent years, there has been an evolution in pharmaceutical research, in the involvement of industries and in the (regulatory) authorization process of drugs intended for increasingly smaller patient groups. In 2016, the European Medicines Agency (EMA) launched the PRIME program to enhance support for drug development targeting an unmet medical need. This scheme relies on increased interaction and early dialogue with promising drug developers to streamline development plans and accelerate evaluation so that these drugs can reach patients sooner. Through PRIME, the Agency offers timely and proactive support to drug developers to optimize the generation of reliable data on the benefits and risks of a medicine and enable accelerated evaluation of drug applications. This will help patients benefit from therapies that can significantly improve their quality of life as soon as possible. PRIME builds on the existing regulatory framework and tools already available such as scientific advice and accelerated evaluation. This means that developers of a medicine that has benefited from PRIME can expect to be eligible for accelerated assessment when applying for a marketing authorization. Timely dialogue and scientific advice also ensure that patients only participate in studies designed to provide the data necessary for an application, making the best use of limited resources. These medicines are considered a priority by the EMA, as they can offer an important therapeutic advantage over existing treatments or be critical for patients who have no other treatment options. The Order of Psychologists has hypothesized, for these pathologies, a translation, in clinical practice, of a holistic vision deriving from a biopsychosocial approach, with the involvement and activation of all the resources of a multidisciplinary and multi-professional team, in order to: maximize the effects of good communication, promote and facilitate the 3 management of relationships, emotions and stress within a work team taking into account multidimensional needs. The conception of the quality of life of the patient with chronic and rare pathology, i.e. the perception that individuals have of their position in life, in the context of the culture and value systems in which they live, in relation to their goals, expectations, standards and concerns, is a multidimensional and dynamic construct, closely related to the definition of Health sanctioned by the World Health Organization, that is, as a state within a continum, characterized by complete physical, mental and social well-being, and not simply by absence of disease or infirmity. At the congress held in June 2001 as part of the Therapeutic Adherence Project, WHO defined this construct (Haynes and Rand) as the extent to which a person's behavior - in taking medications, following a diet and / or implement lifestyle changes - corresponds to the recommendations of health professionals, shared by the patient. Access to care for these patients is more difficult, especially since these diseases are diagnosed late after a process that is often stressful and invasive on a psychological level, capable of leaving long-term aftermath (there is numerous scientific evidence that demonstrates the correlation between Long and stressful diagnostic procedures and the development of PTSD, Pavan et al. 2018). Patients often complain with pain of the difficulty resulting from the inability to contact the general practitioner for their pathology, and to find specialist facilities in the area suitable for treatment and diagnosis. All this generates anger, frustration, stress and discomfort in the patient, as his needs are not recognized and validated by the surrounding reality. Each diagnosis of pathology brings with it a marked redefinition of one's life project, of one's perception of oneself, one's identity and the active role that one plays in affective, social and work-related relationships. Hence the need to build a multidisciplinary specialist network, among which the figure of the neuropsychologist and the psychotherapist in his role as a "bridge" with double direction: towards the patient with respect to psycho-emotional support and support, and psychoeducational towards the team, as a facilitator and mediator in communication and relationship management processes. The presence of the psychotherapist in the context of the clinic for chronic and rare diseases, alongside the figure of the doctor is motivated by the need to analyze and contain, in a scientific and systematic way and, through the tools of his profession, the psychic experiences that the patient constantly reports and correlates to his illness, as well as evaluating how adaptive the coping strategies he uses 4 are. Clinical Intelligence offers tools that the clinician can use to get to know the patient's previous history in depth, his vulnerabilities, then to develop personalized care projects tailored to his needs, something that was not possible up to a few years, coming to structure a personalized medicine, with a treatment project tailored to the patient. The daily coexistence with the symptoms deriving from a persistent, progressive and infrequent disease in the general population constitutes a condition of vulnerability for the health and, for example, the psychological well-being of the affected subject. Empirical research has shown how unsolved psychological problems in these types of patients led, all things being equal, to a less favorable prognosis and course of the disease. A comprehensive management of the patient with comorbidities could solve gaps and gaps in the care, often experienced as an emotional overload by families and patients. It will be the ability to meet these needs, both on the part of the caregiver and the care team, which will then determine the psychological response of the patient and his family. It therefore becomes important to evaluate what support to offer to the caregiver, to consider his psychological experience, which could also emerge in a phase following the assessment (Lucidi et al. 2017), to which the psychologist can respond, in the event that there are specific needs. emotional or relational, or the entire team if it comes to information and communication needs. A similar analysis is essential to evaluate the outcome indicators of the rehabilitation process and to measure any reduction in perceived care needs. Sharing "proven practices", bringing out unresolved needs with respect to the services provided and the critical issues in the care pathways, guaranteeing the quality of the data in the dedicated Registers and the planning of appropriate resources, are the objectives for addressing the great issue of rare diseases. The personalization of care must not stop only at the diagnostic process but must go above all to the therapeutic and assistance one. BIBLIOGRAFIA Chung, H., Kim, S. Y., Kang, J., Phi, J. H., Kim, W. H., Yang, S. W., ... & Chae, J. H. (2021). Siblings With Familial Dwarfism Presenting With Acute Myocardial Infarction at Adolescence. Case Reports, 3(5), 795-800. Colombo, P., Ariano, S., & Lania, A. (2021). Sindrome da resistenza agli ormoni tiroidei: dalla genetica alla gestione clinica. L'Endocrinologo, 22(2), 113-118. Dębska, G., Milaniak, I., Domańska, D., & Tomaszek, L. (2019). Caregiver burden and the role of social support in the care of children with cystic fibrosis. Family Medicine & Primary Care Review, (2), 98-103. Spiga, O., Cicaloni, V., Fiorini, C., Trezza, A., Visibelli, A., Millucci, L., ... & Santucci, A. (2020). Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease. Orphanet journal of rare diseases, 15(1), 1-10. Talarico, R., Marinello, D., Cannizzo, S., Gaglioti, A., Ticciati, S., Carta, C., ... & Turchetti, G. (2020). Shaping the future of rare diseases after a global health emergency: organisational points to consider. International Journal of Environmental Research and Public Health, 17(22), 8694. Wakap, S. N., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., ... & Rath, A. (2020). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics, 28(2), 165-173
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dott.ssa Vallillo psicoterapeuta articoli
Febbraio 2024
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