On the one hand there are regions that perform an initial screening of about 50 rare diseases directly to the birth, in other regions but this does not happen. It is a situation to be corrected.
I think very important the correct approach to the problem of rare diseases, which are a complex of more than five diseases, sometimes fatal chronic or disabling. They represent 10% of the diseases that afflict humanity. Because of their rarity, these diseases are difficult to diagnose and treat. Against them, until now, the pharmaceutical industry, because of the limited market, have shown little interest in developing research and production of so-called orphan drugs, potentially useful for treatment. Their limited knowledge leads then, for those who are affected and their families, significant difficulties in identifying the centers specializing in the diagnosis and treatment and, therefore, access to any available treatments. Unfortunately, on the face of rare diseases, Italy has two speeds: on the one hand there are regions that perform an initial screening of about 50 rare diseases directly to the birth, in other regions, however, this does not happen. It is a situation to be corrected. Also because, often, the regions that offer more services to citizens are those who spend less. They made choices more balanced and appropriate. To meet the needs of patients and their families rare, it is essential to expand the list of rare diseases for which there are exemptions, and economic benefits. You must also give impetus to the national network through which to implement measures to prevent, to enable monitoring, interventions to improve the diagnosis and therapy, to promote information and education, reduce the burden on patients and their families. The objective is to obtain a path with many multi-disciplinary professionals who work together to ensure the health rights protected by Article 32 of our Constitution. In the complex relationships among physicians, researchers, institutions and patients, which will enrich the contribution federation of regions with different skills in health, also fit the associations, which play an essential role both in daily life, both in the places care and research.
Francesca Martini
Secretary for Health for the Ministry of Labour, Health and Social Policy
