Melanie

One Newport family has made N.C. Children’s Hospital their home away from home as infant daughter, Melanie, fights to breathe on her own. Even before she was born, her parents turned to UNC for help in saving their baby girl.

Second Home: Newport family makes N.C. Children's Hospital a home away from home

Roxanne was 20 weeks pregnant when an ultrasound showed that her unborn baby daughter had fluid on her brain. Her doctor expressed concern about the pregnancies viability and immediately referred the Newport, N.C. mother-to-be to the high-risk pregnancy specialists at UNC for the rest of her prenatal care.

"From the very beginning, they were so proactive," says Roxanne of her specialists at UNC. "They said: 'Okay, when she’s born, this is what we’re going to do so she’ll survive.'"

The care team’s careful planning and certainty in the face of uncertainty gave Roxanne and her husband, Robert, confidence as the pregnancy progressed. On October 21, just sixteen weeks after their first visit to UNC, daughter Melanie was born at UNC Hospitals.

"She was not crying or breathing when she came out," Roxanne recalls. "She was immediately put on oxygen and taken to the Newborn Critical Care Center. I didn’t get to see her until the next day."

Melanie was initially diagnosed with general myopathy, or muscle weakness, of undetermined cause and artherogryposis affecting her hands and feet, causing her hands to be clenched and feet clubbed. Her jaw was unusually small, causing breathing and feeding difficulties. Her caregivers at N.C. Children’s Hospital have ordered genetic tests to determine a more definite diagnosis, but an MRI showed her brain was fine, a huge relief to the family.

"Melanie had a feeding tube placed when she was three days old, but by two weeks she was working on using a pacifier, and she took a bottle for the first time at four weeks," says Roxanne of her daughter’s steady progress in the weeks since her birth. "I have been so impressed by the coordination of care between the doctors, nurses, and residents. They all know about her and are all on the same page even between shift changes."

Right now, the main concern is finding a way to keep her airway open so she can swallow and thus eat on her own. She will also need to pass the "car seat test," sitting in car seat for four hours to simulate the ride home to Newport without any breathing difficulties. Once that happens, she can likely go home with her parents and 3-year-old brother.

Until then, the family has made North Carolina Children’s Hospital their home away from home, staying at the Ronald McDonald House so they can be close to Melanie and her team of medical experts.

"I really appreciate all the support we have received at the hospital," says Roxanne. "They really make it family friendly. They have all these activities going on whether it is Wellness Wednesdays, brunch, volunteers bringing in food or other things. When you are as far as we are from family, meals make such a difference."

More about Melanie

Hometown: Newport, NC; Carteret County — about 330 miles roundtrip
Diagnosis: Probable Sheldon-Freeman syndrome
Primary pediatric specialties: Newborn Critical Care; neurology; occupational therapy; respiratory therapy; speech therapy for feeding difficulties
Other pediatric specialties seen: Genetics and metabolism; endocrinology; physical therapy
Frequency of visits: Post discharge every four to six weeks; more as needed by specialty
Favorite caregivers Maya Lindley, care coordinator; Dr. Katie Beth Redding, newborn critical care resident; Dr. Diane Marshall, NICU doctor; NICU nurses, including Sandy Taylor, Mary Clay, Bridget and Sonya.
Favorite thing about N.C. Children's Hospital: "The support, because they always have all these activities going on—whether it’s bringing in food or other things. They really make it feel not so ‘hospital-ish,’ if that’s even a word. Everything—they really make it family friendly so even the siblings can be here and feel welcome." ~ Melanie's mom, Roxanne

 

UPDATE: Melanie’s story was written in early December. Since that time, her genetic tests have come back. “She’s a one-of a kind,” says Roxanne. “They can’t find a single case like her genetic-wise. They’re calling it presumed Freeman-Sheldon syndrome. She doesn’t have the gene for it, but she has all the characteristics—small jaw, muscle weakness, clenched fists and all.”

To the family’s delight, Melanie was discharged home on January 26. She will have 24/7 nursing care at home for two weeks to help the family transition and care for Melanie’s trach, which was done in December to secure her airway.

Says Roxanne,”We got all of our trach training in the hospital, so we’re really comfortable with that, but with a trach, we can’t hear her cry. A pulse oximetry monitor helps indicate when she’s upset or choking, but the nurses are a Godsend. Without them, I don’t know how we’d sleep.”

Two weeks post discharge, at-home nursing care will continue at 76 hours per week. Melanie will be followed by a multi-disciplinary care team, including the care team at the Children’s Hospital’s Airway Center, orthopaedics for the correction of Melanie’s club feet and endocrinology for her hypothyroidism. The family anticipates returning to the Children’s Hospital once every four to six weeks for the foreseeable future.

“We’re feeling really positive about Melanie’s progress,” says Roxanne. “And we’re just so grateful to everyone the Children’s Hospital. They saved our daughter’s life more than once.”

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