Health, via the national plan for rare diseases - Lettera43

(© ANSA) The Minister of Health, Beatrice Lorenzin.

Thanks to more precise diagnostic techniques, continues to increase the number of identified rare diseases.
The results achieved by research in recent years has also increased the number of those that can be avoided by acting proactively .
485 RARE DISEASES surveyed. “From osteogenesis imperfecta or illness of the ‘glass bones’ to Williams syndrome, are between 6000 and 8000 rare diseases estimated, but only 485 those regularly cataloged in Italy, through national and regional registries, “said Domenica Taruscio director of the National Centre for Rare Diseases National Institute of Health.
One and a half million patients estimated rare in our country,” but those surveyed are about 110 000 and their number is constantly increasing. “
While many strides have been made to increase the life expectancy of patients and improve their quality, much remains to be done from a regulatory standpoint.
February 28, RARE DISEASES OF THE DAY. For this reason, in the day when, in a hundred Italian piazzas, we celebrate the World Day of rare diseases, with the aim of sensitizing society and institutions on , by the Minister of Health, Beatrice Lorenzin, came a “commitment that, upon approval of the new Covenant of health, both at the same date the decree which identifies the essential levels of assistance and the list of rare diseases.”
READY FOR A ‘NATIONAL’. Before that, however, announced the minister, there is another important step to be taken: will be submitted shortly, under review by the State-Regions Conference, the ‘expected’ national plan for rare diseases’, ie the document, as the minister said, “is concerned with identifying the necessary actions to reduce the variables in the quality of services offered to patients and their accessibility.”
Federation Italian rare diseases ‘combine’, but asked to update the Plan, with the establishment of a national committee that participates See all stakeholders, including patient groups.
LAW STUDY ON RARE DISEASES . The agenda then there is a law on rare diseases “to ensure that the subject leave the jurisdiction of the Ministry of Health and see only involved also that of Research, Economic Development, Education but most importantly, Economy. There are four terms that the project has dragged on without ever arriving in port, “said Paola Binetti Choice of civic organizing the event ‘A rare encounter’ which saw the associations dealing with institutions.
DISEASES HIDDEN FROM COMMON SYMPTOMS. Featuring symptoms that vary greatly from sickness and disease and from patient to patient, often rare diseases lie behind common symptoms. For this reason, they are difficult to detect. “At the European level, we are working to try to anticipate the diagnosis as early as possible because even a few weeks later, in the beginning of the therapy, can make a difference”, said Luca Pani, Director General of the Drug Agency (AIFA).

Friday, February 28, 2014