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Charlotte C. is one special little girl.
Before she was even born, doctors learned she had a giant omphalocele — a rare birth defect found in 1 in 10,000 newborns. When she was 5 days old, doctors diagnosed her with Hirschsprung disease — another rare, but separate, birth defect with a 1-in-5,000 chance.
Having both? A one-in-a-million event made even more remarkable because of other issues with Charlotte's heart and spinal cord.
“I’ve never seen a patient with this constellation of defects,” says Kelly Austin, MD, a pediatric surgeon.
Dr. Austin also heads the Colorectal Center for Children at UPMC Children’s Hospital of Pittsburgh.
“Having the right care from the start was crucial for Charlotte,” she says.
Carrie C. was 20 weeks pregnant when she learned her unborn child had a giant omphalocele. This rare defect causes the intestines, liver, and other organs to form in a sac outside the baby's body.
These babies often have heart and lung defects and other syndromes.
Knowing she would need special care, Carrie and her husband, Tom, had a big decision to make. Where should they go for the expert treatment their baby would need?
Carrie and Tom chose UPMC Children’s Hospital — two hours from their small Pa. town.
Charlotte was born in a scheduled C-section at UPMC Magee-Womens Hospital in June 2017 and transferred right away to UPMC Children’s.
“She came out screaming, which was great because these babies often are born with undeveloped lungs,” says Carrie. “She only weighed 4 pounds, 14 ounces, but she looked healthy.”
At UPMC Children’s, doctors coated Charlotte’s organs in betadine then covered them in a protective wrap. This “paint and wait” method lets the organs gently return to the abdominal cavity.
Charlotte's care team taught Carrie and Tom how to change the dressing. And five days later, they were getting ready to take Charlotte home when she began screaming in pain.
“Thank goodness we were at UPMC Children’s Hospital,” says Carrie.
Dr. Austin checked the newborn and found Charlotte had a blockage in her colon. A biopsy confirmed Dr. Austin's suspicion of Hirschsprung disease.
The colon is an active organ lined with nerve cells that help push waste out of the body. But with Hirschsprung disease, part of the colon is missing these nerve cells, so the waste gets stuck.
Without treatment, stool can back up and flood a baby’s body with toxins that can lead to death.
“With Hirschsprung, a patient’s colon may look normal. But it essentially functions like a brick wall, preventing waste from moving,” Dr. Austin says.
Children with this disease need the right treatment to ensure a good quality of life.
Dr. Austin worked with her team at the center to assess Charlotte and locate the exact part of her diseased colon. In most cases, doctors remove the unhealthy part right away and rejoin the healthy parts in what they call “pull-through” surgery.
Due to Charlotte’s complex health issues, the care team chose to delay surgery and rely on rectal enemas to empty her bowels.
After 21 days in the NICU, Charlotte finally went home.
“They showed us how to do the home care,” says Carrie. “We took care of her until she was ready for surgery.”
When she was 3 months old, Charlotte returned to UPMC Children’s for the pull-through surgery.
Dr. Austin removed just over 3 inches of Charlotte's intestine, then rejoined the healthy parts. The next day, Charlotte emptied her bowels normally for the first time.
A year later, Dr. Austin surgically closed the omphalocele and made Charlotte a belly button. She also arranged Charlotte’s care with other UPMC Children’s specialists.
A neurosurgeon performed surgery to release Charlotte’s tethered spinal cord. Then, a cardiothoracic surgeon did a heart catheterization to open up her vessels.
Each surgery was a success.
Now 3 years old, Charlotte is “a typical little girl who doesn’t stop,” says Carrie.
“She’s active, spunky, independent, smart, and sassy. You’d never know something was ever wrong. “Dr. Austin was a godsend. And everyone at UPMC Children’s has been fantastic,” adds Carrie. “It's given us peace of mind knowing she’s in such good hands.”
“She’s active, spunky, independent, smart, and sassy. You’d never know something was ever wrong.
“Dr. Austin was a godsend. And everyone at UPMC Children’s has been fantastic,” adds Carrie. “It's given us peace of mind knowing she’s in such good hands.”
Though Charlotte is doing very well — like all kids with Hirschsprung disease — she'll need follow-up care throughout her life.
The center’s staff includes specially trained doctors, nutritionists, motility experts, and physical therapists.
They work with children who have problems with toilet training and need help with bowel movements. They also closely check for enterocolitis or an inflamed bowel.
“As a comprehensive colorectal center, we’re very aware of the problems that can form. We know how to keep our young patients on track,” says Dr. Austin.
Charlotte's treatment and results may not be representative of similar cases.
To make, cancel, or change an appointment or consult, contact the Colorectal Center for Children.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
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