Shortly after birth, Amberly Broussard was diagnosed with a rare anomaly called Maple Syrup Urine Disease (MSUD), where her body could not break down protein. Since it’s a unique syndrome, Amberly was airlifted to Manning Family Children’s when she was just a week old.
“We confirmed the diagnosis here at Children’s and followed her over the years, but she was repeatedly hospitalized with viral infections,” explained Dr. Patricio Arias, a pediatric gastroenterologist/hepatologist and transplant surgeon at Children’s. “Those viral infections were triggering a metabolic crisis in Amberly because the proteins in her blood were too high and going into her nervous system, causing mental issues. She was becoming very sick. Those proteins over time can cause problems in her brain, which can be permanent.”
Many children with Amberly’s rare enzymatic deficiency often need transplants and Dr. Arias had decided that this would be necessary for Amberly, in order to have the best outcome. At four and a half, she went on the organ transplant list, and awaited a liver. After one year, a liver became available, and Dr. Arias and the team at Manning Family Children’s would perform the transplant. “Transplantation specifically for Maple Syrup Urine Disease is done at a few facilities across the country, very often in Pittsburgh,” said Arias. “This is the first case ever done in Louisiana. Amberly was in surgery for over nine hours, and
then in the ICU for a week, before being released to the floor, where we watched her closely.”
Amberly is currently on two different anti-rejection medications, but at six years old, she has resumed her life. She doesn’t have any restrictions, she gets to go to school, abd she eats whatever she wants. She’s like a whole new kid!