Tetrasomy 16 [46, XY, trp (16) (p11.2p12) .ish trp(16) (wcp16t)]
Daniel was born August 13, 1997, followed closely by his twin brother Andrew. While there were no complications during the pregnancy, there were some concerns that Daniel's growth had slowed significantly in the final weeks. It was suggested that Daniel was not receiving enough nutrients because his umbilical cord was not centered in the placenta and that he would develop better outside the womb. But, at 32 weeks, Andrew's lungs were not fully developed. Since Daniel was very active and in no immediate danger, we chose to wait. Finally, at 38 weeks the boys were delivered. Daniel arrived screaming at five pounds, four ounces. Andrew, somewhat less vocal was six pounds one ounce. Everything appeared normal except that Daniel had one undescended testicle that later came down on its own.
I didn't see much of Daniel his first 24 hours because he was having trouble maintaining his body temperature and was kept under a heat lamp. Then he began vomiting bile and was taken to neonatal intensive care. There he was hooked up to all kinds of monitors, given x-rays, spinal taps, blood tests, etc. He looked so small and helpless. At the end of the week, it was concluded that he had been constipated by his meconium and that having passed, he would be fine.
In the months that followed, I noticed many differences between the boys. Daniel wouldn't nurse, had trouble keeping things down, and seemed more "wobbly" than Andrew. At ten months, Andrew was beginning to walk, and Daniel was not even sitting up. At 1 year, I became frustrated with the pediatrician's lack of concern and went to another doctor. Eventually, a blood test revealed that Daniel was UNIQUE. He has a triplication of 16 (p11.2-p12), resulting in tetrasomy of that region.
Daniel does not have any major medical problems. He had an umbilical hernia operated on at nine months of age. He has ptosis, or drooping of his left eye lid, but it does not affect his vision. He has very low muscle tone, is developmentally delayed and is small for his age. Daniel is now 20 months old and has been in therapy for four months. He is able to feed himself, sit up, crawl (combat style), clap, wave by-bye, pull himself up, and walk with the aid of a walker. Our goal is that he walks to his second birthday party.
Daniel is a very happy child. He always returns a smile. He loves pulling himself up and onto people and things. He is frightened by pets, stuffed animals, or anything furry. At 20 months, he looks like a cuddly eight month old infant, always attracting the ladies. We call his extra chromosomal material "charisma-some". We are very proud of his accomplishments and while therapy has played a big part, I give much of the credit to Daniel for his strong sense of determination and Andrew for his encouragement.