Bpes

Hi im lisa mummy to kayla who is 15 mth old on 21st august and ive been in contact with a genetic specialist to find out what wrong with kayla he suggest that she has BPES and has blood test to be dont on the 18th august to confirm this,she also doesnt sit up herself and isnt meeting the milestones she should be for her age.
Just wondered if anyone else has had same experience as im wondering if its linked or a seperate issue?
plz reply and give me your thought im new to all this but would like to understand her syndrome and meet others in same position. x