|Proximal 10q, 46XY INVDUP10Q(11-22)
|James and Jennifer Dramis
|Jacksonville, FL, USA
|jdramis [at] gmail [dot] com
I went into labor at 38 weeks and were having contractions at 1 min apart very quickly so they tried to stop the contractions to no avail. During the cesarean delivery I noticed that they were taking a very long time to pull Timothy out of me, in all my other deliveries this usually happened in seconds or the very most minutes, well come to find out my scar tissue was so bad that they could only cut through a small part, not large enough to get Timothys head through, so they had to use the vacuum, forceps and have two nurses push on the outside of my upper belly to try to push him out, well after a long while he was out, with the cord wrapped around his neck, he was in distress from all the pushing and his agpars were really low. I knew that something was wrong by the way the drs were acting and they only let me get a glimpse of him before they rushed him off to nicu. While I was in recovery my husband read the report the nurse had made of the delivery and it was noted that Timothy suffered from 28 bruises thought his body and head (from trying to get him out) I did not see him for nearly a day then I finally demanded that I know what was going on and to see him, so I walked to nicu and he was so swollen and had severe jaundice from all the bruises and was under lights I could not touch him or hold him I felt helpless.
3 days later he was sent home with a clean bill of health, but I knew in my heart something was wrong with my baby. His sucking was weak, his breathing seemed labored, he never cried. He looked very healthy, no abnormalities that were evident and he was even taller and weighed more than the normal baby at 21 inches, 7lbs 14oz and 14 1/2 head. At his very first checkup I mentioned all my concerns that something just wasnt right, they were ignored, it really wasnt until about his 3mth checkup where his dr seemed to share and understand my concerns. Timothy wasnt gaining weight or growing or meeting his milestones on time so for the next 9mths we went to dr after dr and got one bad diagnosis after another, Timothy was diagnosed with trisomy10q at 12mths old.
Timothy is now 2 1/2, overall he is at about a 10mth level. He's just starting to cruise furniture but does not stand, hes says mama-dada and nana (which is his bottle or cup) He has 2 sisters and 2 brothers all which are normal developing children and they just adore him. I had never imagined what my life would be like with a special needs child, and now I cant imagine my life without one. I am a better person just by being his mother, and he has taught ME so much. We feel very blessed to have him, disability or no.