Sophia’s Story (Trisomy 18, CHD)

At about 32 weeks pregnant, our world was turned upside down. We had a normal pregnancy until I was about 28 weeks pregnant. I started carrying extra fluid, so the OB decided to send us to a maternal fetal medicine specialist to check her renal system.

While we were having a 3D ultrasound done, the doctor and tech kept going over her heart. They started whispering to each other, and we kept hearing “defect.” After they confirmed something was wrong with her heart, the doctor insisted that we do a free cell DNA test. He said it was “imperative” to our daughter’s health. Since every other test had come back normal, we complied.

A couple of weeks later, I received a call from the doctor as I was driving home from work for lunch.

“Mrs. Dicamillo? ”

“Yes.”

“Yes, the tests came back, and unfortunately it is abnormal for trisomy 18.”

“What does that mean for her?”

“She will die. Either before birth or a couple of hours after.”

The feelings from that day are indescribable. We asked for an amnio because none of this made sense. The amnio was awful as well, and the doctor yelled at me for even wanting it. The final amnio results came back when I was 24 weeks pregnant. They 97% confirmed trisomy 18. The doctors told us she wouldn’t live, and if she did, she would be nothing but a vegetable–“She won’t be like a person at all.”

We planned on having her at Children’s Hospital 5 hours away. My last day of work was Thursday, and we were going to pack Friday and go up Saturday. My water broke at midnight Friday morning. The OB that was on call refused to do a C-section in case of an emergency. We asked to be transferred to a hospital an hour away, and it took seven hours for the transfer. Sophia’s heart rate began to drop while I was in labor, and she was delivered via C-section at 12:29 pm on September 26, 2014. She was only 3 lbs, 13.7 oz. She required no help after birth, which they wouldn’t have provided anyway. They refused to put her in the NICU. They didn’t see the point. They refused bili lights, blood tests to confirm the diagnosis, and even an NG tube to help give her nutrition. They didn’t see the point. They told us not to feed her. We did. She left the hospital eating only 5-1/2 milliliters a day. Eventually she got up to 1-2 ounces a feed. She was admitted to the local hospital at 8 weeks and put on oxygen. She finally hit 4 pounds during that admission. We spent countless sleepless night worrying about her.

When she was 4 months old, we took her to another town and finally got her transferred to Children’s. We had previously been told they wouldn’t take her. She was admitted to the NICU and stayed for almost a month. She had surgery to place a G-tube during that stay. We were Life Flighted 3 more times last year, mostly for pneumonia. Her longest stay was a month and a half. She spent the majority of her first year in the hospital. She had many doctors saying that she wasn’t going to make it. She almost died more times than we would like to think about.

In spite of all her struggles, she is thriving. She rolled over at 2 1/2 months, began sitting unassisted at about 8 months, and is desperately trying to become mobile. She says words, is learning signs, and has so much life in her. She is so far from being a vegetable. She is not just alive; she is living. She fights like a girl every day!

Lizzie
Colorado
Submitted 01/11/2016

The informational content of this article is intended to convey a personal experience and, because every person’s experience is unique, should not be relied upon as a substitute for professional healthcare advice.

This story is intended to convey a personal experience and, because every person’s experience is unique, should not be relied upon as a substitute for professional healthcare advice.