Hello! I was glad to see this community listed when I joined! After reading through all of your stories, by heart goes out to all of you, and yet I also felt somewhat comforted to read such similarities. My daughter is 11 and has 14q11.2 deletion as well as a terminal duplication on 18p 11.32 - 18q12.1 (unbalanced translocation). She has Partial Agenesis of the Corpus Collosum, Septo-Optic Dysplasia, Epilepsy (started out as complex partial seizures and has recently changed into symptomatic generalized seizures), hypopituitarism, common variable immune deficiency, neuromuscular scoliosis (had 3 spinal surgeries included fusion from T2-L5 this last March), Epstein's anomaly, bicuspid aortic valve, slightly dilated aorta, VSD and ASD, born with a choledocal cyst which was removed along with her entire bile duct and gallbladder and reconnection of the small intestine so we have several GI issues, cyclic vomiting syndrome and severe developmental/intellectual delays.
Some of her issues can be connected to her partial trisomy 18, but not everything and because there isn't a lot of information on chromosome 14, it makes me wonder if her deletion is more of the cause. It sounds like we all have some in common!