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 brothers and enjoys listening to music. He enjoys bread and he likes riding in the car. Stefano has physiotherapy (physical therapy) three times per week and enjoys many of the activities and exercises from therapy such as lying prone and crawling. Francesca says, “he is a very cheerful child, he can’t speak, but he knows how to make himself understood.”
In addition to physiotherapy, Stefano sees a neuropsychiatrist every six months. Since July of 2019, he has been taking Vigabatrin for epilepsy with great success. Francesca hopes that research efforts will continue and that new research initiatives will continuously be initiated. “I really hope that gene therapy can be applied to PURA Syndrome too and that we might find treatments of a cure that allow our children and young people to lead a more ‘normal life.’”
When asked what the Rare Disease Day slogan “Rare is Many. Rare is Proud. Rare is Strong.” Means to her family, Francesca states, “for me it means not to give up. Continue to fight.”
The PURA Syndrome Foundation wishes to thank the Greco family for their participation in this Rare Disease Day piece.