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Tuesday, May 3, 2011

47 xx +21

Scott and I were over-joyed with our brand new little girl, we couldn't of ask for a better gift from God. After she was given a bath and cleaned up, they took her to the nursery to have a few tests done. Scott went to make some calls to let everyone know that our baby was born. I remember when the nurse were getting me ready to go to my room. They put me in a wheelchair and started towards the door. A doctor came in and stopped me and said without hesitation, "We are about 98% positive that your daughter has Down Syndrome." I could feel a couple of the nurse hands starting to pat me shoulders and say, "I'm sorry." But even with them saying "sorry", I didn't feel sad about it. And after all of the past months of worrying about our baby having the possibility of having Down Syndrome, it didn't matter one bit, in fact I didn't even cry about it, I smiled as they wheeled me to my room and couldn't wait to get Everlly back into my arms! Scott and I both know she was meant for us and each day she manages to surprise us. The genetics doctor, that we met months and months ago came to look at Everlly and examine her in our room. She was quite surprised how strong her neck muscles where, and that coming from someone that well, we felt had no bedside manner, made us even happier.


After getting out of the hospital and bringing her home for the first time–which was the scariest moment ever and driving home with her was hectic, looking in the backseat every 2 minutes to make sure she was okay. And after 2 days of being home, she was admitted back into the hospital for jaundice and dehydration, then 2 days after getting out of the hospital, again, we had more appointments for her heart and an ultrasound to look at her intestines, which everything was normal and the PDA in her heart eventually closed after 3 months, YAY! Lastly that day, full of appointments, we learned that Everlly did definitely 100% have Down Syndrome. And that was okay with us.






47 xx +21: 47 chromosomes, female, Everlly has extra an 21st chromosome.
•Trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866.
Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents (both mothers and fathers) due to increased mutagenic exposures upon some older parents' reproductive cells. Other factors may also play a role. Down syndrome occurs in all human populations, and analogous effects have been found in other species such as chimpanzees and mice.


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