Introduction to Shiny and 4q deletions

My daughter Suzannah, dubbed "Shiny" within moments of her birth, was born at home in our kitchen in a large livestock tub we'd bought for the purpose. I have an extensive background in maternal and neonatal health. I was once certified both as a doula and childbirth educator, and worked for Midwifery Today magazine for many years as an editor and designer. I've attended a number of births, ranging from the birth of my sister when I was 12 to many births at local hospitals. I've also fostered a newborn and parented Shiny's older sister. So I've handled a lot of newborns.

I knew instantly that something was "off" about Shiny. Her voice was wrong. Despite her quiet, gentle birth in water, she did not have that magical "quiet alert" phase after birth, she simply grunted and squeezed her eyes shut and breathed, looking not entirely happy at the whole being-born thing. She looked...strange to me. The midwife cooed over how pretty she was, I kept thinking how strange she looked to me. Her head was large, her body short and squat. When she weighed in at 9 pounds 4 ounces, I was stunned because she looked *so* short. Yes, her head was large and she was very pudgy, but 9 pounds? It turned out she was barely 19 inches long. My previous child was 7 pounds 11 1/2 ounces at birth, and 21 inches long, so you can just imagine how different the two were.

You always catalog a brand new baby... going over every feature, every little curl of hair, every toe.  Shiny had long, curly hair, covering a fontanel that extended from her forehead back to the back of her head, with a "keyhole" shape that was like nothing I'd ever seen, almost like she had extra bones in her head. And despite the wide opening, her head had not molded and changed as she came down the birth canal--it came through hard and round and pushing her out had been extremely excruciatingly painful. I joked after we measured her head and did a little basic algebra that I'd had to dial it up to 11 (cm).  Shiny's little toes folded oddly at the second joint. Her little pinkies curled in. Her hands and feet were tiny... but short and wide like the rest of her. Her eyes were very far apart, a bit slanted, with tiny creases at the inner corner. I immediately thought about Down syndrome, but dismissed it due to the large head size and other features. Her ears were low set, rotated, and oddly mobile. One minute I would look and her ears would look very low...then I'd watch them shift upward for no apparent reason.

I put her to the breast often, and thought that since it didn't hurt to nurse her, we must have a good latch. But she slept constantly. Did not open her eyes at all... even when it seemed like she must be aware, awake, something. So my original plan to take her to the doctor at 7 days for tests was cancelled and I took her in at 5 days old. I was expecting to learn that she'd gotten close to her birthweight and that she was doing well, that I was worrying about nothing... but they put her on the scale and she was 8 pounds 4 ounces. She did not look, smell or act like a starving baby, and the doctor agreed to let me recheck her on the scale she was first weighed on. The doctor also noted the features I'd seen, and said, "I think she's got something chromosomal going on."

I asked, "What do you think it is? I know she doesn't have Downs, or Trisomy 18..."

The doctor shrugged and said, "I don't know, we need to do a blood test, but in the meantime let's check her for thyroid issues and do an ultrasound to rule out hydrocephalus. And we need to recheck her weight in 2 days."

I did not yet realize it, but the fact that my daughter was born at home would ultimately prove essential to both my daughter's ability to learn to nurse, and to keeping her healthy and out of the hospital. I believe that every other child with this condition has ended up spending a significant amount of time in the NICU for feeding issues--we were able to handle them at home and keep her breastfed.

More later.