#MollysKids: 9-month-old Charlotte girl living with rare syndrome (1-in-10,000 affected)
Roughly one in 10,000 individuals worldwide are affected.
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CHARLOTTE, N.C. (WBTV) - Ever heard of Williams Syndrome?
Charlotte Autry is a little girl living in Charlotte with this rare disorder. Williams Syndrome—casually referred to as WS—is the randomly occurring microdeletion of the seventh chromosome. Roughly one in 10,000 individuals worldwide are affected.
Charlotte’s mom, Holly Hufham, says WS is characterized by health issues like cardiovascular disease, developmental delays, learning disabilities, and in general, being small in stature.
At almost 9 months old, Charlotte only weighs 12.5 pounds.
Another sign of the disorder? A huge, happy, beautiful smile. Like the one you see here, of Charlotte with her older brother.
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“It’s interesting how a person with WS can have a highly sociable personality, advanced verbal skills, and a passion for music,” Holly said. “Charlotte has those things, plus some of the (mild) characteristic facial features common with WS. You can see it in her eyes, down to her nose, and her all-consuming smile.”
Charlotte also has some of the associated health issues linked to the missing gene. Her diagnosis, however, wasn’t immediate. At 6 weeks old, she had an inguinal hernia repair. Holly said at the time they didn’t know their little girl had WS.
“Many kids with WS don’t take well to anesthesia, so we were lucky with that one,” Holly said. “Then at her six-month well check, her pediatrician found a heart murmur. While murmurs are common, he wanted us to see a pediatric cardiologist. I believe her cardiologist knew she had WS when he first laid eyes on her small stature and facial characteristics. He issued an EKG, which showed how the branches in her heart to her lungs, are narrow. From there she had microarray testing done. Those things together confirmed Charlotte is living with Williams Syndrome.”
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Holly says they’ll know more after Charlotte’s follow-up with her neurologist and cardiologist in May.
“We’re still learning,” she said. “This is new for us. May is Williams Syndrome awareness month, though, which would be a great time to find other local kids with WS, and connect with them.”
So... if you know of another family with a child living with Williams Syndrome, have them email me if they’d like to be connected to Holly. So often #MollysKids families can learn from each other. My email is molly.grantham@wbtv.com. I’ll pass any email for Holly straight on to her.
Charlotte lives with her mom, Holly, her Dad, Lee, and her 5-year-old brother, also named Lee. It’s clear, he adores her.
Maybe before the month of May, we can connect some of these families so they have others to lean on during Williams Syndrome month.
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