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Sunday, January 17, 2010

Diagnosis

Right off the bat, there were some physical indicators that Mirabel had Down syndrome. She was thrusting her tongue out of her mouth and her eyes were characteristically shaped. She was taken away from the birthing room immediately, and we didn't get to see her for more than two hours. When we did get to go up to the NICU to visit her, Dr. Lawrence explained some of the physical characteristics that suggested his diagnosis of Trisomy 21, though a blood test would later confirm it medically:



- Her ears are very small and are low on her head. Your and my ears are about level with our eyes at the top. Hers are much lower and are tiny!

- Her eyes are almond-shaped.

- She has a deep crease across the palm of her hand.

- She has a "pocket" on the roof of her mouth. If I stick my small finger in there, I can feel this upward indentation.

- Her nipples are very small and are spread wider on her chest than is typical.

- There is a defined "nuchal fold" on the back of her neck, which one of John's Facebook friends lovingly referred to as "hot dog neck." This is one indicator of Down syndrome that can be present in ultrasounds. ** Update: this has all but disappeared in her first couple weeks of life.

- She has weak muscle tone. (Though I am often amazed at how strong she seems!) ** Update: Mirabel's neck is still quite floppy, but during tummy time we are all very impressed with how high she lifts her head! She can also turn it side to side at three weeks!

In my research, I'm noticing other physical characteristics that are commonplace in the diagnosis, like a large space between her first and second toes. She will also likely have a smaller than normal head and stature. Isn't this all so interesting? The things that one teensy extra chromosome can do.

Both the physical and intellectual implications of Down syndrome are all across the board with every single individual, and there is no way to really know how intellectually affected Mirabel will be. I do know that she is full of surprises, though, and I do know that she will continue to amaze us all.

Mirabel has jaundice and is under the bilirubin lights.
** Update: Mirabel was in her "tanning bed" for 3 days. She hated it.
It was one of the hardest things for me to see.

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