Having a rare disease often means feeling alone, wandering from one hospital to another search for hope for a cure or even for the very name of the pathologydefined rare by the European Union because it affects less than 5 people out of 10,000. The list of diseases is long: so far about eight thousand are known, 70 percent of genetic origin. To name just a few of the best known: haemophilia, phenylketonuria, Brugada syndrome, keratoconus, thalassemia, spinal muscular atrophy (Sma), sickle cell anemia, Pompe disease, osteogenesis imperfecta, progeria, Duchenne dystrophy, scleroderma, amyotrophic lateral sclerosis ( Sla). Patients are rare but many, it is estimated that there are over 300 million people in the world, 30 million in Europe, two million in Italy. Among them, one in five is a child. In common they have the need for early diagnosis and timely management. Hence the slogan Let’s join forceschosen for the World Rare Disease Awareness Day, which falls on 28 February. (CONTINUED UNDER THE PHOTO)
On average they expect four years to be diagnosedbut about 30% of rare patients still don’t have it says Annalisa Scopinaro, President of Uniamo – Italian Federation of Rare Diseases.
Adds Luigi Orfeo, president of the Italian Society of Neonatology: For a rare patient to have one Timely diagnosis at birth and therefore adequate treatment, can make the difference, even between life and death. For this reason, the newborn screening projects activated at the regional level should become established practice throughout our country as soon as possible.
February 28, 2023 | 07:30
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