Tuesday 28 February will be World Rare Disease Day , established in 2008 by the European organization Eurordis. An opportunity for this anniversary to raise public awareness of the needs and requirements of those who experience this pathology on a daily basis.
"A disease is defined as rare when it does not exceed 1 case every 2000 people, or 0.05 percent of the population," explains Professor Stefano Sotgiu, director of the Child Neuropsychiatry Clinic of the Aou of Sassari , company contact person for diseases rare and syndromic and head of the dedicated Center. «About 80% of rare diseases have a genetic origin both hereditary (i.e. transmitted from the parents) and due to a de novo mutation, i.e. not inherited but linked to an unfortunate genetic event that occurred during fetal life. The remaining 20% are caused by infections, autoimmune phenomena such as chemicals or radiation during fetal life or a complex interaction between genetic and environmental factors,” he adds.
Currently the Center for rare diseases in Viale San Pietro , managed by the medical director Valentina Pes, follows around 400 patients with an average of 60/70 visits per year . The clinic takes care of the first visits, checks and consultations. The patients followed by the Center fall within 50% of rare pediatric diseases involving neuropsychiatry, often affected by genetic syndromes and malformations and sometimes by disorders such as intellectual disability and autism. The structure also deals with patients with rare neuromuscular diseases such as myasthenia, muscular dystrophies, neuropathies and genetic and acquired encephalopathies. The clinic organizes multi-specialist consultations and makes use of the collaboration with the Clinical Genetics Center of the Aou of Sassari and for some rare pathologies, for example the autoimmune ones of the nervous system, with the laboratory of the Binaghi Hospital of Cagliari or with laboratories outside the region .
Sotgiu lets it be known that « in addition to patients in the developmental age, we also follow patients who have long since reached maturity but who cannot be accommodated in adult facilities . There is an important difficulty in the transition from childhood to adulthood that the regional technical table is trying to address».
