Founder and Director, SCN2A Italia - Famiglie in Rete APS
Stefania lives in Padua, Italy. She has been working in Tourism for many years and she is now a tour guide and freelance translator/interpreter in her city. She is mother to 3 boys: Marco, Matteo and Davide. It was perhaps for the fact of not being mum for the first time that she first noticed that Davide, her youngest son, was having troubles maintaining all milestones during his first year of life. After many detailed examinations and hospitalizations it was in 2016 that a genetic test on the Whole Exome Sequencing determined the cause of her son's condition: a de novo SCN2A mutation
In these past 5 years Stefania has been working on creating a network of relationships and mutual help within Italian families with a diagnosis of SCN2A and strong connections with clinicians and researchers. All this has been leading to the creation of the newly born association SCN2A Italia - Famiglie in Rete (formally established in June 2021).
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