“My Daughter Has an Extremely Rare 3q Chromosome Duplication”

“I started following Iwassupposedtohaveababy when my daughter was born. Yes, I know how ironic it sounds.
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Except my daughter was born with a genetic mutation and severely disabled and I felt like this account spoke to me because while I do technically have a baby, she does not live at home and our lives have been turned upside down by doctors and hospitals and tubes and wires.
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My daughter has an extremely rare 3q chromosome duplication which caused a heart defect, a spinal defect, a lung defect, and developmental delays. She is trach, ventilator, and g- tube dependent and currently resides in a pediatric rehab hospital.
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During the pregnancy my husband and I had no idea. It was a healthy pregnancy and a healthy birth at 39 weeks. We did genetic testing before we got married and before I got pregnant and again when my daughter was born and we are not carriers for this mutation.
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This happened to be a de novo (a new) case, just something that happened. I don't know what we would have done had we found out during the pregnancy.
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Right now she is stable and we are stable but we are learning to cope with the realities of a medically complex child.
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I have a story about genetic mutation but it's currently ongoing and is about my living daughter who was born severely disabled.
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I know you primarily post about miscarriage and infertility and this is not that, but I feel like if I could share my story with someone who isn't considering genetic testing, maybe I could change their mind.”