Family Waits for Liver Transplant for Baby Daughter with Hyperammonemia
June 12, 2015
“Her breathing changed. Her temperature had dropped to 92 degrees, and she had lost about one pound,” said her mother Megan Goulet, 23, of Grand Forks.
“She’d open her eyes but they wouldn’t stay open,” Goulet said. “She wouldn’t feed from her bottle. She wasn’t responding to light …
“I know that babies sleep a lot (but this didn’t seem normal).”
Those distressing signs marked the beginning of a journey that has taken the family on an emotional rollercoaster since Jozy was born at Altru Hospital in Grand Forks in December.
Jozy has been diagnosed with hyperammonemia, a rare, life-threatening disorder of metabolism in which abnormally high levels of ammonia circulate in the bloodstream.
At 4 days old, Jozy was transported by medical aircraft to the Masonic Children’s Hospital at the University of Minnesota in Minneapolis, where she was later placed on a liver transplant list.
Goulet and the baby’s father, Doug Austreng, also of Grand Forks, are living at a Ronald McDonald House near the hospital. Austreng is working at a nearby business.
Jozy, a full-term baby, was born Dec. 12, one day after her due date, weighing almost 6 1/2 pounds.
Goulet and her firstborn child were discharged from the hospital about 24 hours later, on the evening of Dec. 13.
Jozy passed the standard 48-hour check-up at the Altru Clinic but, on Dec. 16, Goulet became very concerned and took her to the clinic in the early afternoon.
At the clinic, “I was told to wake her up and make her eat,” Goulet said. “She wasn’t waking up.”
By about 6 p.m. that day, Goulet was even more worried; Jozy’s arms were “limp,” she said.
“She was listless, her breathing was labored,” Anderson said. “She couldn’t hold (anything) down.”
Goulet took Jozy to Altru’s emergency room, where she was examined by a doctor.
“She was not jaundiced at birth,” Goulet said, but at each check-up, her measurement on a jaundice scale had increased.
After checking Jozy, the doctor “was going to send us home,” Goulet said, but she insisted on an examination by a pediatrician.
“(The doctor) left pretty pissed off at me,” she said.
“(The pediatrician) came and within five minutes said my baby needed to be at a hospital that provided greater care than Altru could offer,” Goulet said.
“If I had gone home with her, my baby would have probably died.”
Jozy was quickly hooked up to medical equipment, and the pediatrician was on the phone to Sanford Health in Fargo to arrange for specialized care.
While Jozy was in flight by helicopter to Fargo, Goulet learned that lab work ordered by the pediatrician at Altru had revealed there was excessive ammonia in Jozy’s system.
Sanford couldn’t provide the type of dialysis care that was needed, Goulet said, and, after a brief stop in Fargo to place Jozy in a different incubator, she and Jozy were flown by medical plane to Minneapolis. There, Jozy was admitted to the pediatric intensive neonatal care unit at Masonic Children’s Hospital.
“She had dialysis the first day she got here,” said Goulet.
Jozy was placed on a breathing tube and received medication intravenously.
She was diagnosed with hyperammonemia, an inborn condition caused by enzyme deficiency. It is the primary cause of a number of brain disorders.
“Her liver doesn’t filter ammonia out of her system,” Anderson said. When she arrived at the children’s hospital, “her ammonia level was 1,500—normal is under 50.”
Jozy, who spent six weeks in the PICU, was transferred to a standard-care floor for three weeks. When her condition had stabilized, she joined her parents at the Ronald McDonald House.
Goulet and Austreng took classes to learn how to provide the care she needed. They took Jozy to weekly medical appointments.
“She was on a feeding tube from 8 a.m. to 8 p.m. each day,” Goulet said. “We’d wake up every three hours to give her her meds.”
But after five weeks at the Ronald McDonald House, Jozy’s ammonia levels became unstable, rising to 270, and she was readmitted to the children’s hospital.
The level of ammonia in Jozy’s blood is a constant concern, Goulet said. “Anything over 50 is not normal. Anything over 100, there’s potential damage to the brain.”
“She has ammonia checks at 6 a.m. and 4 p.m. They were never the same,” she said. “She’s had really high numbers.
“She’s battled daily to stay stable. It’s a daily struggle for her.”
Doctors are treating Jozy with an experimental drug, Ravicti, which has not yet been approved by the Federal Drug Administration, or FDA, for use in children under 2 years old.
“We had to try something that would work,” Goulet said. “It seems to be working.”
She believes the drug is reducing the frequency of the spikes in Jozy’s ammonia levels.
“We feel like it’s given us hope we might be able to get her back to the Ronald McDonald House this summer,” she said.
On April 13, although she had not yet met the weight requirement of 20 pounds, Jozy was placed on a transplant list as a candidate for a donated liver.
The transplant surgeon “felt confident about listing her at 16 pounds, so we went with his decision,” Goulet said. In mid-May, Jozy was moved up to “top priority” on the list.
Jozy will be a patient at Masonic Children’s Hospital until a liver is found for her, Goulet said.
Doctors are waiting “for another baby to pass away that has the same size liver.”
That child would be younger than 1 1/2 years old, she said.
When they are informed that a liver is available for Jozy, Goulet and Austreng will have to act fast.
“When they call, we have to report to the hospital within an hour,” she said. They will do liver-function testing, an EKG and MRI to make sure the liver is suitable.
The surgery would take 10 to 14 hours, after which Jozy would be hospitalized for at least two months and possibly up to six months.
“It’s possible she’ll have a feeding tube for the rest of her life,” Goulet said.
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