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Searching for the missing piece

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“As long as the baby is healthy…”

I’ve been hearing that phrase a lot these days. So many parents-to-be are flooding my feed posting pregnancy announcements and gender reveals.

“We don’t care if it’s a boy or a girl, just as long as it’s healthy.”

I’ve watched videos where nervous couples sit close together with tears in their eyes. They stress over prenatal testing and pray their child doesn’t have a chromosomal abnormality. I cheer along with them when they find out their baby is “perfect,” but how can you really define perfection?

Genetic perfection does not always equal healthy and a genetic abnormality doesn’t make your child any less of a miracle.

I gazed into my perfect baby’s eyes when she was born and I imagined all the wondrous things she would achieve.

After her Apparent Life Threatening Event she was always under my watchful eye. Thickened feeds and nebulizers filled my day, but never once did I feel cheated out of perfection.

When she didn’t reach milestones in the order her siblings did, we celebrated inchstones instead.

When she maneuvered the living room with a walker we were ecstatic. First steps at two? That was right on time for my perfect little girl.

When the doctors suspected cystic fibrosis, we bundled her up and sweat in the testing room right beside her. We could cross one more thing off the list when the test came back negative.

Still, we searched for the missing piece.

When blood work showed an immune deficiency, we took precautions. As she grew, her immune system strengthened, but we still keep hand sanitizer nearby.


We continued searching.

When the specialists hit a brick wall, they removed some of the cilia from her nostrils to see if those microscopic fibers held the answer. They didn't.

The doctors were looking for a test that could tell us what made Josie so perfect in our eyes.

Genetic testing was mentioned in passing. It seemed like the next logical step and we figured we would be met with another negative. Instead, there it was.

We finally found it. The missing piece we had been searching for all those years was located at the very end of her 18th chromosome.

Now, we knew why she was so extraordinary.

Josie will always be the perfect little girl I gazed upon years before. When the sunlight hits her auburn hair just right, it glints bright copper. Her giggle brightens up any room. She is a hard worker with a stubborn streak. Josie is a loyal friend, a compassionate soul, and to put it simply, she is pure joy.

That little girl, who didn’t walk until she was two? She takes ballet lessons and she can correctly identify and perform every position and step. It took some time for her to find her words, but now she sings out loud. Our little pop star knows all the words to every song on the radio.

For Josie, perfection comes from a genetic anomaly.

When I look into those deep brown eyes, I can see the wondrous things she will do and achieve, all in her own time.

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