Previous Challenge Entry (Level 4 – Masters)
Topic: CHARGE (10/13/22)
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TITLE: She's Perfect | Previous Challenge Entry
By Corinne Smelker
10/19/22 -
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My entire focus was on those encouraging words, and with one final burst of energy, my precious daughter slipped into the world. The doctor immediately put her on my chest, leaving Tony and me to stare down at this slippery, squirmy, but most beautiful baby in the world.
“She’s perfect,” I sighed.
“There’s something wrong with her,” I told our pediatrician at Shannon’s two-month checkup. Dr. Oliver listened while I described what I saw. “I don’t think she is tracking me as her siblings did at the same age. She has no startle reflex, and look at the chart; she’s barely registering for height. You know my other kids were all off the top of the chart.”
I pointed out Shannon’s funny little ‘elf’ ears and then concluded, “But the thing that concerns me the most is her breathing. You can hear, even in this room, how loud it is. She always sounds stuffy, yet she has no cold.”
Dr. Oliver nodded her head. I had complete trust in her; she had been our kids’ pediatrician for the last decade. She knew I was not a mom to coddle and see sickness behind every sniffle.
“You’re right, Nicole; Shannon does seem to be behind. Now, it could be that she is your sixth baby, and anecdotally we see younger siblings develop more slowly than first babies because everyone does everything for them, but I think you have reason to be concerned.”
Relief flooded my body. I was being listened to and heard.
Three months after that, I wasn’t sure whether to be thankful or terrified. Thankful because we were getting answers, terrified because of what those answers meant. Hours spent with audiologists, cardiologists, ophthalmologists, and Ear, Nose, and Throat specialists brought Tony and me back to Dr. Oliver’s office.
I was my usual, blunt self. “Ok, Dr. Oliver, give us the news. Knowing can’t be worse than not knowing. Please don’t sugar-coat anything.” Tony nodded his agreement.
“Shannon has CHARGE. CHARGE is an acronym for a genetic syndrome with a known pattern of features. The acronym stands for coloboma, which is a hole in the eye, heart defects, choanal atresia, which is the nasal area, retardation of growth, and genital abnormalities.
“Some kids have all of the features; others have just a couple; some are severe, others are mild. Now I know it is a lot to take in, but Shannon is actually quite mild, and she does not have two of the syndrome markers – she does not have heart or genital issues.”
Tony grasped my hand even harder. “What?”
“I know, I know,” Dr. Oliver said. “It’s a lot to take in. Shannon will need specialized care, and you two, and the kids, will need support. I don’t want to overwhelm you; you’ve got to digest this news first, but let me give you a website, and you can access it when you’re ready.”
We stood up, dazed. When I expressed my concerns to Dr. Oliver, I never in a million years thought I would be hearing about a ‘syndrome.’ I thought our daughter might be deaf and petite, but to have a genetic abnormality?
Weeks later, as I nursed Shannon in the quietness of her nursery, I pulled out my phone and confirmed our appointment to see the specialists at the CHARGE Syndrome section of the Cincinnati Children’s Hospital. In just a few weeks we had found friends, fellow parents who knew our daily struggles, who had cried over the phone with us, prayed with us, and offered support. Dare I say it? They even provided hope.
Shannon snuggled close, her tiny hands balled into fists, and closed her eyes with a little breath.
“She’s perfect,” I sighed.
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