Stefano's Rare Disease Day Story
Francesca Greco gave birth to a beautiful baby boy, Stefano, in 2018 in Italy; however, after noticing early delays, Francesca states “the doctors could not explain his condition or identify a reason for the delays, so they proposed we carry out a Whole Exome Sequencing (WES)” which is a genomic technique frequently used to identify and study very rare genetic conditions. At the young age of 9 months, Stefano was diagnosed with PURA Syndrome. Stefano loves to play with his br