Briony was born by planned Caesarean section but we were unaware of the genetic condition in our family at this time. She was very floppy and having breathing problems on the ward so they took her down to neo-natal to monitor her. Her weak facial muscles made it hard for her to suck a teat so she was tube fed for the 1st two weeks.
A Portuguese doctor asked to squeeze my hand which my fingers tighten up when trying to release this gave the diagnosis of Brionys condition so she had a blood test to diagnose this. She gets tired and cannot walk far and is weak. She now has lots of hospital appointments for physio, breathing, neurology, eyes, and orthotics as she wears insoles and splints etc.