Rare Diseases: "Patients' Unresolved Needs and Critical Issues in Care Taking Pathways”

A disease is defined as rare when its prevalence does not exceed 5 cases per 10.000 people, it is known and diagnosed between 7.000 and 8.000, thus affecting millions of people. Data from the National Rare Disease Registry of the Istituto Superiore di Sanità, estimate 20 cases of rare diseases for every 10 in Italy.000 population: 20 percent of diseases affect pediatric patients.

For patients in adulthood

For adult-age patients, on the other hand, the most frequent are diseases of the nervous system and sense organs (29%) and diseases of the blood and hematopoietic organs (18%). [Source: ISS 2015] But even today, for example, neonatal screening and diagnostic delay mean that SSRs need to improve their care models. With the aim of taking stock at the national level of patients' unresolved needs and critical issues in the care-taking pathways in order to be able to assess what programming needs to be done, Motore Sanità organized the Webinar 'RARE DISEASES: NATIONAL FOCUS,' which follows 5 regional appointments, made possible thanks to the unconditional contribution of Alexion, Takeda, Biogen and Janssen Pharmaceutical Companies of Johnson & Johnson.

The National Network for Prevention

"The National Network for the Prevention, Surveillance, Diagnosis and Treatment of Rare Diseases, articulated in the regional networks, is aimed at ensuring specific forms of protection for patients and has for many years been the first and only example in Europe. In the 20 years since its establishment, the Network has seen progressive improvement.

This is thanks both to the commitment of institutions, central and regional, and patients' associations and to the actions of the European Commission, which, starting from the Recommendations for National Plans, has arrived at the creation of 24 European Reference Networks (ERNs). ERNs, by fostering the sharing of knowledge, expertise and best practices, facilitate faster access to diagnosis and treatment. One of the challenges still open is the’insufficient development of a holistic approach, i.e., aimed not only at the disease (early diagnosis and possible therapies, albeit fundamental) but at the whole person, and including, in particular, what precedes the disease in order to prevent it, through the identification and reduction of risk factors, and what follows it, i.e., the comprehensive care of the person, including social and work inclusion projects.

All aimed at achieving the best possible quality of life

All aimed at achieving the best possible quality of life", stated Sunday Taruscio, National Center for Rare Diseases CNMR Istituto Superiore di Sanità

"Participation in the national tour organized by Motore Sanità on Rare Diseases was, for me, a key piece and opportunity to communicate updates, step by step, about the status of the parliamentary work.

The personal stories of rare disease patients, whose number is around 2 million, has strengthened my determination to pursue the process for the approval of the Consolidated Act. The fact that, most recently, the law in question was unanimously approved in the Senate Health Committee on Oct. 13, 2021, is an important indication about the appreciation of the long and complex work, carried out in synergy with the government and the Ministry of Health, in order to ensure respect for the right to health under Art. 32 Cost. and the right to substantive equality under Art.

3, second paragraph, Const. of millions of patients.

In particular

In particular, the legislation protects all the rights of patients, such as the personalized diagnostic and therapeutic pathway, the updating of the LEAs, newborn screening, the availability of aids and innovative drugs, social support for the right to study and work, information for physicians and citizens, and funding for research. The final passage through the Senate floor shortly will end the long path taken to approve this framework law, whose primary objective is to protect and make uniform treatment of rare diseases throughout the country" he said Fabiola Bologna, Secretary XII Commission on Social Affairs and Health, Chamber of Deputies.

"Since 2001, many steps forward have been made for rare diseases even if there still remain many knots to be unraveled and on which it is necessary to confront and act in order to improve the quality of life Of people with rare diseases. The National Plan for Rare Diseases does not include funding specific for the network and its development, despite the complexity of care and the multidisciplinary approach required.

Diagnostic delays are still very high, partly due to the lack, for most cases, of a real link with general practitioners and pediatricians of free choice; the same network for rare diseases is little known among specialists who are not part of it. Added to this are the difficulties related to the different regional territorial organizations: patients do not find the same pathways and quality of care in the various regions. Therefore, greater uniformity at the regional level is needed to ensure ways of taking care of the patient to ensure that all needs are covered.", explained Annalisa Scopinaro, UNIAMO President