Emmett
Triplications
Emmett was born December 31, 2008. His birth went really easily with very few complications. When he went for his first month check-up he had not gained any weight which had the doctor concerned. Later when he was not sitting up by 10 months, we knew that something was not right. The RN we were seeing kept telling me he's 'just being lazy.' At his 12 month check-up he was not crawling and she referred me to a neurologist.
The neurologist ran an MRI on him. Emmett had 'bright spots' on his brain and that was abnormal. We had another MRI a year later, he still had the 'bright spots' and we were told Emmett must have had a lack of oxygen some time during my pregnancy. The neurologist decided to run some genetic testing on him after telling us that Emmett was mentally retarded.
We found he had a triplication 16p11.2, later discovering my twin sister and I also carried it. After hearing the results we went to an Autism center and had him evaluated. They told us he did not have Autism, but 16p was known for developmental delays which were probably causing his marked motor and speech delays.
Emmett is 2 1/2 years old now. He is in Early Intervention Services in PT, OT, and SPL and continues to improve. We are happy to say he crawled at 13 months, and around 24 months he started walking. He has low muscle tone and speech delays. He is saying around 20 or 30 words and a couple of phrases, but still has a long way to go.
Emmett is a very sweet and loving little boy. He is doing really well at his own pace. It has not been an easy journey but he has definitely taught us to appreciate all the little milestones that are so easily forgotten as kids grow up.