Five-year-old with rare disease enjoying 'small miracles' after transplant
Published Wednesday, April 24, 2019 12:18AM EDT
Last Updated Wednesday, April 24, 2019 9:21AM EDT
When Julia Berardi was born in 2013, her parents didn’t expect any complications.
They’d already had two healthy children. “You sort of expect this to go pretty smoothly,” recalled her mother Jody Berardi in an interview with CTVNews.ca.
And it did at first. Julia was “pink and healthy,” weighing in at eight pounds and five ounces. But they soon noticed irregularities. Jody was only able to nurse her for a brief time before Julia would fall asleep for five-hour stretches. When they took her home two days later, the baby projectile vomited in the car. As the patterns worsened to a point where they couldn’t wake her up, Julia was readmitted to the hospital.
“We didn’t know what was going on. It’s even worse when you don’t get answers,” said father Alfredo Berardi.
A doctor at the Hamilton Children’s Hospital determined that Julia had a metabolic disorder that affects one in 70,000 children. Julia couldn’t metabolize protein because of the rare genetic condition called urea cycle disorder. The disorder causes the highly toxic substance ammonia to build up in the blood and threatens brain damage, coma and death.
For the first few years, physicians were able to manage Julia’s disorder with a highly restricted low-protein diet and medication. But in February of last year, Julia contracted a gastrointestinal bug and her parents had flashbacks to 2013.
“She was throwing up and right away she’d go to sleep,” said Jody. “Here’s a rerun of what happened when she was born.”
But this time, her condition was bad enough that physicians suggested it was time for Julia to get a liver transplant. They initially opted for a transplant from a living donor, in which doctors take a portion of an adult liver, because an organ might not have become available in time. But just a couple weeks after the living donor was approved, they got the call that a deceased child’s liver was available.
“I spent just as much time thinking about the other family as I did about our own child,” said Jody. “As a mother, you don’t want to hear the words that there’s a child’s liver available.”
Since the 10-hour transplant operation near the end of 2018, Julia’s disorder has been “effectively cured,” her parents said, though she will be on an immunosuppressant drug for the rest of her life.
Her diet is no longer restricted. In fact, her first meals after the transplant were McDonald’s Chicken McNuggets and scrambled eggs.
“It sounds so silly in a normal person’s life, but our life was anything but normal,” said Jody. “For her to have scrambled eggs and eat Chicken McNuggets is huge. We were given this huge miracle of a liver, but it’s all these small miracles that we relish and hold onto.”
Julia’s speech, which had been slightly impaired by the condition, has improved to the point where she seems to have matured suddenly and she speaks in full sentences. For her parents, understanding that their child’s health was dependent on the death of another child has added to the “hugely emotional experience.”
“Here’s Julia thriving and doing so well and another family has lost their child. That will never be lost on us,” said Jody.
Now they’re ready to embrace an unrestricted future. Before the transplant, the family couldn’t go anywhere without a metabolic specialist. Now the Berardis feel no such restraints in planning their daughter’s life and the family’s next adventures. Julia and family have a renewed sense of freedom, though they aren’t quite out of the six-month risk window for transplants, said Alfredo.
“After that it’s gangbusters,” he said. “It’s completely wide open.”