Rare diseases (RD) have become a phenomenon of staggering scale. About 8,000 are now known to exist, with that figure growing steadily as medical knowledge advances, genetic research expands, and diagnostic technology improves. A disease is classified as rare when it affects no more than five people per 10,000 inhabitants. Italy only began tracking rare diseases ten years ago with the creation of a National Registry. Within Italy alone, approximately two million people suffer from them; across Europe, estimates range from twenty to thirty million.
Eighty percent of rare diseases are genetic in origin, which means they often appear in infancy or at birth. As a result, about 70 percent of patients are children. Many of these diseases have devastating consequences: physical, motor, and sensory damage that can render patients profoundly disabled.
Yet many people with a diagnosed rare disease receive no special protection at all. Most rare diseases are not included on the ministry's official list of conditions covered by health service exemptions or classified within essential care levels (LEA). The latest governmental decree from 2008 recognizes only 583 rare diseases or disease groups; when counted individually, that number rises to approximately 2,500. Even patients with rare diseases on the official list often struggle to claim their social and medical rights, hampered by poor information and the sheer complexity of the issue—even government offices struggle to keep pace.
We cannot overlook the psychological and social dimensions of a rare disease diagnosis in a family. There is the wandering search for answers, the shock of learning the name and its grave implications, the frantic hunt for the best treatment and rehabilitation centers, the gradual erosion of family ties and friendships as social isolation sets in, complications at work, the daily struggle to balance therapy with school and employment, the critical shortage of institutional social and health services that cannot provide adequate family support, and the mounting financial strain from complementary treatments and round-the-clock care that these children require.
Italy has established a National Network to identify specialized treatment centers. More than 250 parent and patient associations operate actively across the country. (For more information, visit www.iss.it/cnmr)
Italy has not yet implemented mandatory screening programs nationwide. Regional screening exists for various conditions, but no unified national framework is in place.
Many pharmaceutical companies hesitate to invest in research and production of certain drugs—called orphan drugs—intended for small patient populations. Incentives and regulatory benefits exist for companies willing to develop these medications, but Italy remains far behind in this area.
Since 1997, an international project called "Orphanet" has operated across 38 countries, including Italy. On the portal www.orphanet.it, available in five languages, users can find a comprehensive list of rare diseases as well as available orphan drugs.
A printed "Orphanet Yearbook" (published by Elsevier, www.elsevier.it) is also available. It describes more than 2,000 diseases and their treatments, and lists Italian diagnostic centers and patient associations.
This article was prepared with the generous cooperation of CO.GE.MA.R. ONLUS (Coordination of Parents with Children Affected by Various Rare Diseases), founded in Rome in the XIII Municipal District. Visit www.cogemaronlus.it
Edited by Rita Massi, 2012