Hello my name is Stephanie. I have 3 girls age 5,6,and 9. I am happily marreid tobobby for 14 years. My 6 yo was just diangosed with 22q11 deletion in March 07.Here is Breanna's story...
I was born in February 2001 by a c section because I was in heart distress. I was fine just wanted to enter the world with a BANG!!! At my 1 week check up , my doctor told momma that he heard a murmur. I needed to go to the heart doctor, my appointment was schedule for me at 5 weeks old. I developed what was thought to be a "cold" but turned out to be CHF!. I was only 4 weeks old.Momma was told I had an ASD and a PDA. I was in the hospital for 1 week and had a lot of meds. This same week momma found out I had ASTHMA and REFLUX!! WOW what a week it was...I was in and out of the hospital a lot and had many ear infections, upper respiratory infections! I was under weight and it seemed I was never going to get better... I was 9 mnths old and started having FEBRILE SEIZURES! We always was going to doctors appointments!! When I was 3 momma and daddy decided to move to Augusta and they went on a quest to find out why I was ALWAYS sick. I met my heart doctor that took specail care of me.and My ENT who FINALLY put tubes in my ears, I also met with the BABIES CAN'T WAIT" staff that set me up with the public school system that put me in speech and behavior classes in special ed. Last year my heart doctor fixed my ASD and PDA! I still have alot of infections . Last year I was daignosed with ADHD!
This year I am in regular ed and I still see the special ed teacher each week and I also see a speech teacher.My momma was told by my speech teacher that I had something more than "JUST SPEECH". after fussing with my ENT { which said no. it was just b/c I did not get my tubes in until late... just speech.. is all he was say}the ENT finally order some test. and now the results I have a SUBMUCOUS CLEFT PALATE and a VPI... WOW my teacher is smart.. { THANKS!!} after the results I had to met a team of doctors { A LOT OF THEM.. boy was I scared!!!}I met with a plastic surgery who is going to fix my cleft and VPI. I also met a nice guy who told my momma that all my problems could be related. but they had to do some testing.. and on March 23,2007 my momma found out I had a Chromosomes deletion of the 22nd. It is also know as Velo-Cardio-Facail syndrome, DiGeorge Syndrome, or 22q11 deletions. My surgery is schedule for May 10,2007. I am alittle scared but I will have a lot of family and friends around to help me!