A face disfigured by a genetic disease, but the strength to carry on to this day. There death in Vicenza at the age of 63 of Vinicio Rivawhom the Pope had hugged and caressed during an audience in the Vatican, has brought to the news the pathology that had affected him as a boy, neurofibromatosis type 1 (Nf1) or Von Recklinghausen's disease. The photo between Pope Francis and Vincio went around the world, becoming the symbol of inclusion with respect to those with disabling illnesses.
What is Von Recklinghausen's disease
Von Recklinghausen's disease is a genetic disease that involves multiple organs and systems and is characterized by a predisposition to the development of tumors. It is a rare disease that affects approximately one person in every 2,500-3,000 births. The deformation of the face has often led to the identification between neurofibromatosis and the case of John Merrick, told in the film 'The Elephant Man' by David Lynch, but in reality the latter was suffering from another very rare pathology, Proteus syndrome , which is manifested by an enlargement of the hands and feet, abnormal growth of a part of the body.
Is there a cure?
But how is Von Recklinghausen's disease treated? “Children affected by neurofibromatosis type 1, or those who present a strong clinical suspicion – recalls Bambino Gesù in a fact sheet on its website – should be checked regularly at least once a year, carrying out an evaluation of growth, blood pressure , neuro-cognitive development and an accurate ophthalmological evaluation. In some centers the need to carry out brain magnetic resonance imaging at diagnosis and annually, at least in early and middle childhood, for the early diagnosis of glioma is suggested. On this approach, however, there is no unanimous agreement. Only 5% of diagnosed gliomas require treatment, while in the remaining 95% of cases only monitoring is carried out.”
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