Charge syndrome: surgery restores hearing

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The effects of Charge syndrome had left him deaf and blind. Now, thanks to a complex surgical operation carried out at the Ramazzini Hospital in Carpi – by the Otolaryngology Unit directed by Doctor Stefano Galli, he will at least be able to hear.

It happened to a three-year-old boy originally from Lombardy who, after being admitted to Ramazzini, a national point of reference for ear microsurgery, was able to return home a few days ago. The Rare Diseases Observatory website tells his story. Charge syndrome is a rare disease with autosomal dominant transmission, the name derives from the English acronym of the six main pathologies that these children manifest from birth: vision defects, heart malformations, nose problems, growth retardation, malformations of the genitals and ears. Generally these children need many surgical operations, generally the intelligence is completely normal even if the children suffer from learning difficulties due to blindness and/or deafness. The small operation at Ramazzini had both problems, it would have been impossible for him to read lips, now thanks to this operation he will be able to recover at least a minimum of relational capacity.

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The medical team that operated on the child, due to the complexity of the malformations, used a partly demolitive and partly reconstructive strategy, which ended with the insertion of a cochlear implant, an electronic artificial ear. Newborns with Charge often require emergency surgery, with long hospital stays, followed by prolonged supervision by numerous teams of professionals. Generally, the need for surgeries and other medical interventions decreases over the years and the living conditions of some children may improve beyond expectations. An example of this is the story of little Carlo, who lives with his parents in Sardinia and who, thanks to the support of the experts of the ‘Lega del Filo D’Oro’ has made great progress. “The experts from the League – says Sonia Desini, the mother – spent hours on the phone with me to explain step by step what exercises to make him do, they never failed to give us their support”. And so Carlo, despite the many operations he has undergone, has continued and is a sociable child, well integrated at school, he rides horses: in fact hippotherapy has been very useful for him. Her mother, together with the many friends who have supported her over time, also founded an association called ‘Gli Amici di Carlo’.

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