by Amanda Shanks | Feb 28, 2021 | Stories
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...
by Amanda Shanks | Feb 22, 2021 | Stories
In 2014, Megan was one of the first 11 individuals identified with a genetic defect on the PURA gene and “PURA Syndrome was born.” Mary states, “we were so relieved to finally have an answer and a name for Megan’s condition and we were able to connect with other...
by Amanda Shanks | Feb 15, 2021 | Stories
Caroline Maria Thorpe from Gran Canaria, Spain, was thrilled to welcome her second child, Joshua, into the world in October of 2013 after spending most of her pregnancy on bedrest. However, all was not well with her newborn and he was immediately put in an incubator...
by Andy Dodds | May 14, 2017 | Stories
On the 8th of September 2011, my world changed forever. Never did I expect to have a child with special needs. However, my little Lily decided to be a 1 in 5.295 million baby….. the population of Scotland at the time! Those first few weeks were so stressful. In and...
