Wendy’s Diagnosis

When my husband, Zed, returned from Afghanistan, early 2011, we began trying for our first baby. On March 13, while we were home visiting family, I had a positive pregnancy test. The beginning of my pregnancy was hard. I was vomiting quite a bit and at one point they thought I was miscarrying so they did a vaginal ultrasound. My little jellybean was fine in there, bouncing off my uterus walls. They said “it” was a happy baby because of the heart rate being over 170 and “it” was also measuring small, so they moved my due date.  Around 9-10 weeks I had to go to the hospital and get bags of IV fluids. The doctors said it was no big deal, pregnant women vomit and sometimes get dehydrated. (I was going to an ARMY hospital on base, keep in mind.) This trend continued throughout my pregnancy. IV fluids and weight loss were my pregnancy routine. At my 22 week ultrasound, they said they “found something”. The “something” they had found were Choroid Plexus Cysts in Wendy’s (we had found out she was a girl at 14 weeks in Nashville) brain. CPCs are supposedly common and usually go away, but we insisted we wanted to see a specialist. After seeing the specialist and having an amniocentesis, we found out those cysts weren’t just nothing, they were markers for a chromosomal anomaly. Wendy has a one of a kind genetic anomaly; she has an unbalanced translocation between chromosomes 7&10, a benign loss of 3p22.2 and a benign gain of 12q24.33.

On October 8, 2011 Wendy was born. (I had been in the hospital since September 6 because my water broke at 29 weeks.) She was born with an imperforate anus, microcephaly, congenital anomalies, GERD(reflux), grade I IVH(bleeding in the brains ventricular system), grade I VUR (kidney reflux), ASD(congenital heart defect), intestinal malrotation, anemia of prematurity and feeding difficulties. Since then some of these defects have fixed themselves (ASD, VUR, etc); some, she’s had corrective surgery for (intestinal malrotation, imperforate anus, and having a g tube placed); the rest we are dealing with the best we can.

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