Alyssas Story

Alyssa was born on 4/24/07.  The pregnancy was normal until that last month when she was not growing as much. She was born 9 days early and was 6 lb 2 oz, a big difference than her older sister who was a 9 lb baby.  At birth, we noticed she had almost no fat on her body, a funny shaped left earlobe and toes that crossed over each other, but she seemed okay.  The doctors initially thought that maybe the placenta was not working well that last month and it was sent off for testing.  However, the first night she had periods of apnea, so she was sent to the NICU.  When the doctors saw her earlobe and toes, they wanted to send off her chromosomes to be tested, as those are often findings of a chromosome abnormality.  We never thought too much about them testing her chromosomes. She did okay in the NICU and got a complete workup.  She was diagnosed with reflux and was sent home after 10 days of monitoring.  However, her chromosome test came back with a duplication of chromosome 17 on the p arm from 13.1-13.3. We were shocked!  We have been searching the web ever since to understand what she has and to find others with similiar duplications. We have been successful in that we have found one other with the exact same duplication, and several others with pieces of band 13 duplicated.

Alyssa has done very well and most people have no idea that anything is wrong.  She is now 11 months old at this posting.  Her major issues have been her physical mobility and she gets Early Intervention in our home weekly. She has yet to sit up fully on her own and needs to be propped so she will not crash to the sides or back. However, she is very strong. We are told that likely she will have problems with proprioception (sense of position in space) and hypotonia (low muscle tone). She is able to roll around on the floor and is starting to push up on her hands.  I imagine though that she will not be walking for quite some time. She is vocal and can make many sounds.  She is starting to say some words like mama, dada and baba. She is very attentive, has great eye contact, and loves to smile and interact. Her reflux is under control with the medicine Prevacid. Only time will tell how Alyssa will do, but we are hoping that her issues will remain minimal.

Submitted by:  Alyssas mom