Rare genetic diseases are more than 7000, they affect 3% of births and in Italy they affect 1.5 million people. Many of these diseases are particularly rare, nevertheless , for each of them exist thousands of cases. Every year, in the province of Varese alone, about 200 children are born suffering from a rare genetic disease.
Rare genetic diseases appear, more frequently, just after birth o during childhood; some of them may become obvious only in adulthood.
Rare genetic diseases are known as “orphan diseases” because they are not appealing to experimental and clinical research. These diseases present a challenge at various levels: diagnosis, care of patients, identification of appropriate therapeutic solution and research.
Rare genetic diseases require a huge diagnostic effort and continuous specialized assistance. Public health care can’t be solely responsible for the provision of adequate and comprehensive interventions.
People suffering from a rare disease may, additionally, suffer even more by not being treated adequately.
People suffering from rare genetic diseases always face a very difficult diagnostic route often characterized by loneliness and isolation.
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