Nicole
Partial Trisomy 16p+
Our daugher Nicole was born 9/15/98 two weeks early weighing 7 1/2 pounds (quite large for a child with this disorder). Having an older child we had a feeling something was different but it was not easily noticeable. Nicole was not hitting the milestones as our first child. She was not smiling, was a late crawler and walker and generally physically behind. At 8 months we had Nicole's eyes checked and realized she was extremely farsighted and needed glasses. From the moment she wore glasses we saw a change. Nicole began to smile immediately and engage us although physically she was still behind. We thought that was the cause of her problems. She couldn't see, so all her milestones lagged behind.
At 2 years old, we saw one the the preeminent geneticists in Los Angeles. He said there was no need to test Nicole beacuse he saw no indication of a genetic problem. She was off the charts in height, weight, head size, and her cognitive ability was right on track. He suggested physical therapy to stregthen her muscles.
It was not until she was 2.5 years old that she was first diagnosed as having mild cerebral palsy. Nicole was not able to run like other children nor move in a fluid manner. During a visit to one of Nicole's cerebral palsy doctors, it was suggested we do a complete genetic test. It was after these tests that we found out Nicole had Partial Trisomy 16P+ (age 4). What was very interesting (according the the geneticists) was that Nicole was in the top percentiles in height, weight, head size, etc which they found to be unusual. Nicole has some features consistent with this dissorder (flat bridge between eyes, cupped ears, slightly webbed feet and a double collecting kidney system). At this tme, we were told that Nicole was only one of a handful of children in the country that had this disorder.
Now for the good news...obviously raising a child with a disorder is more difficult than raising a child without. We feel very blessed because Nicole does not seem to be affected severly from this disorder. She has many friends, is starting AYSO soccer in the fall, and is starting a private mainstream school in Los Angeles. Her main obstacle is her muscle weakness. She is not able to keep up with the other children on land. But when it comes to swimming she is on an even playing field with all her peers. Her expressive language is sometimes slower than most children, but her vocabuluary will amaze anyone.
We are excited to be a part of the DOC16 family and look forward to learning more about these dissorders and figuring out a way our children can all live happy and prodcutive lives.