“Perfect in our eyes:” Caroline baby battles rare genetic disease | Local

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It takes a lot of maneuvering to lift baby Juliana out of her pink bassinet.

Tubes and cords connect the 7-month-old to four separate machines in her Lake Caroline home—an oxygen concentrator and a ventilator that help her breathe, an IV that delivers a continuous drip of Similac to her stomach via gastronomy tube, and a pulse monitor.

All of these must be carefully moved out of the way without being dislodged when Juliana’s mom, Jamie Bryant, wants to cuddle her daughter.

Bryant delicately lifts the baby and cradles her in her arms. Juliana doesn’t make a sound—she can’t, because of the tracheostomy tube in her windpipe—but her mouth opens wide showing red toothless gums and her eyes scrunch up. She’s crying, silently.

“It’s OK, mommy’s holding you,” Juliana’s dad, Felix Johnson, a personal trainer and massage therapist at the Caroline Family YMCA, says to the girl.

“She doesn’t like to move,” Bryant said. Her voice trembles slightly.

She settles the baby back into her bassinet and strokes her foot. Juliana’s face relaxes. She regards her parents calmly through dark eyes framed by black curling lashes.

“I think that’s the hardest part, that being held makes her uncomfortable,” Bryant says. “I was watching my sister with my little nephew and she can just scoop him up whenever she wants.”

When Juliana was born Jan. 25 at VCU Medical Center, doctors gave her a 50 percent chance of survival. Her most serious issue was a congenital diaphragmatic hernia—a condition that occurs when the diaphragm muscle separating the chest from the abdomen fails to close during prenatal development and the stomach, intestines and liver migrate from the stomach into the chest cavity. It affects development of the heart and lungs.

“Juliana’s heart was on the right side of her chest, instead of the left,” Johnson said. “Her intestines, liver and spleen were in her chest. Her stomach was empty.”

At 8 days old, Juliana had surgery to correct the CDH. It was the first of four surgeries she’s had in the first few months of her life. Following that was a procedure that tied off a portion of her stomach to keep her from aspirating food into her lungs.

Then, at 3 and 1/2 months, doctors determined that she was not getting enough oxygen so they performed a tracheostomy to support her airway. Juliana had a hard time recovering from this surgery.

“She [went into cardiopulmonary arrest] during recovery from that several times,” Johnson said. “Her blood oxygen levels went to one; nurses said they had never seen readings so low. They decided to paralyze her because she was not tolerating being awake.”

Juliana was on a fentanyl drip for pain and it was a week and a half before she was able to wake up comfortably.

Her fourth surgery, at just under 4 months old, was to insert a shunt to drain excess fluid that was accumulating around her brain.

And on Friday, she’ll undergo open-heart surgery at the University of Virginia Medical Center to attempt to correct the congenital heart defects she was born with—a large hole in the center of her heart and a condition in which her pulmonary artery and aorta are both connected to the right ventricle.

This means that only oxygen-poor blood from the right ventricle is being circulated throughout Juliana’s body. It’s why she has to be on a respirator 24 hours a day, seven days a week.

Johnson and Bryant hope that she’ll be able to come off the breathing support after this upcoming surgery.

“Fixing her heart should allow her lungs to get better,” Johnson said.

A RARE DISORDER

The source of all Juliana’s medical issues is a rare genetic disorder called Emanuel syndrome, which is caused by an extra chromosome consisting of a piece of chromosome 11 and a piece of chromosome 22. The extra genetic material disrupts normal development.

There are only 200 documented cases in the world.

“When doctors came out to tell us what it was, they had information they had printed out from Google,” Bryant said.

Most kids with Emanuel Syndrome never walk or talk. According to the National Institutes of Health’s Genetics Home Reference website, “most affected individuals have severe to profound intellectual disability.”

Babies with the disorder are normally automatically miscarried.

“My body didn’t catch the memo,” Bryant said.

“But that’s OK,” she continued, leaning over Juliana’s bassinet. “You’re perfect in our eyes.”

Bryant’s pregnancy was normal, at least according to her obstetrician, until she hit 35 weeks. That’s when she developed a high fever and decided to go to the emergency room at Spotsylvania Regional Medical Center.

“They checked me out and then checked out the baby,” Bryant remembered. “When they started looking for her heart, they couldn’t find it.”

She was referred to a specialized ultrasonographer. After that, it seemed like they found something new and worse each week.

“There was the heart defect, the brain defect [a cyst in her brain], the CDH,” Johnson said. “With all of these issues, they were pretty sure she had a chromosome abnormality but they couldn’t tell until they could test her umbilical cord after birth.”

Bryant said she had a gut feeling that something was wrong with her baby from early on in the pregnancy. She’d had two other daughters—Jacelyn, who goes by Jacey, is 5, and Jaylin is 9—so she knew what things should feel like.

“There were little signs,” she said. “My amniotic fluid was higher than normal, but they just kind of brushed it off. And when I’d feel her move, it was like she was having little seizures.”

Johnson and Bryant visited with palliative care before Juliana was born to talk about “what route they would like to take.”

“We decided that as long as she was not suffering, we’ll let her decide what she wants to do,” Johnson said.

ONE ISSUE AT A TIME

Immediately after Juliana was born, a breathing tube was placed down her throat, “to prevent her from taking her first breath and collapsing her lungs,” Johnson said. She went straight to the NICU. But once there, her parents could tell she was going to be their “warrior princess.”

“There were four babies in the NICU with CDH,” Bryant said. “Which nurses said was crazy for them. Juliana was the only one who didn’t have to go on the ECMO (a heart–lung bypass machine). We knew she was a fighter.”

They decided their philosophy would be to just deal with one issue at a time.

Juliana spent almost six months in the hospital until she was finally discharged July 17. Then she went right back to the hospital eight hours later. She came home again Aug. 3.

Bryant and Johnson care for her with the help of a nurse, Sherry Markham, who is with them 50 hours a week. Bryant used to work for a property management company before she was pregnant, but after she developed complications and had to start taking time off, the company told her they couldn’t hold the job for her.

Now, she stays home and plans to homeschool the couple’s older daughters to minimize the risk of Juliana being exposed to germs.

“We’ve had to cut back on friends and family visiting, too,” she said.

Neither parent gets more than a few hours of consecutive sleep a night, as Juliana needs regular doses of medicine—two kinds of diuretics to prevent fluid from building up around her heart and lungs, and potassium—and her ventilator tube collects fluid and needs to be suctioned every few hours.

“The beeps never stop—ever,” Bryant said.

They’re hopeful about Juliana’s condition, though. They feel optimistic that the heart surgery will make breathing easier for her so that she can come off the ventilator. Hip dysplasia makes walking difficult for many Emanuel kids, but Juliana’s hips are fine, so she could possibly walk one day.

The family spends time sitting and talking to her or reading to her. She smiles, kicks and wriggles just like any other baby. She has soft baby rolls on her arms and legs and is already wearing 12-month-size clothes.

And everyone comments on her long, dark, curling eyelashes, Bryant said.

She has a skin tag on one ear, a small abnormality associated with Emanuel syndrome. Bryant said doctors mentioned they would be removing it during one of her surgeries.

“We said, ‘Wait, what? Don’t take that off. We like it. We like her just the way she is,” she said.