Anne Marie has spent much of the five years of her life in and out of hospitals for various conditions.
Born prematurely by more than two months, her congenital heart defect came with other complications that didn’t go away even once she was able leave the neonatal intensive care unit in the Alabama hospital where she was born. Throughout her childhood, she has faced complications with eating, digesting and breathing.
This summer, Anne Marie’s family traveled to Chicago from Alabama to see a specialist for the unique condition she shares with just a few dozen people in the world: the Abernethy malformation.
Lurie Children’s is home to one of the world’s experts on this condition, Riccardo Superina, MD, who has treated more than 60 children with the Abernethy malformation.
The condition could be responsible for many of the issues Anne Marie has faced in her young life, and the surgeries she had in August with Dr. Superina could correct virtually all of them.
The Abernethy malformation is so rare many physicians are unable to detect or diagnose it, which could be why the condition went undiagnosed in Anne Marie for so many years, her mom said.
The Abernethy malformation, also known as congenital portosystemic shunt, is a deformity of the blood vessels in the abdomen. The body’s general blood circulation bypasses the liver, often leading to complications related to heart function and breathing. Elevated ammonia levels in the blood can affect brain function.
In many cases, physicians unfamiliar with the Abernethy malformation may tell families a liver transplant is necessary for a cure. But Dr. Superina is one of the few surgeons in the world who can treat the illness surgically by closing the portal shunt and directing blood flow toward the liver.
Catherine said she discovered Dr. Superina in a Facebook group for families with children dealing with Abernethy malformation. Dr. Superina’s name – referred to by many as “Dr. Superman” – was brought up over and over.
“Everyone said ‘you need to go to Chicago to see him and you need to go now’,” Catherine said.
Catherine sent an email to the hospital, hoping it would find its way to Dr. Superina. To her happy surprise, he emailed back that afternoon with good news.
“He said, I think I can help you,” Catherine recalled.
After sending Anne Marie’s records, Dr. Superina confirmed that he could treat the girl’s condition surgically. The family arrived in Chicago in August for two surgeries and remain in the city while Anne Marie recovers.
The COVID-19 pandemic has made the family’s journey even more cumbersome, but relatives, friends and hospital staff have made the past few weeks tolerable, Catherine said, adding that the nursing staff has been especially impressive and helpful.
Anne Marie will likely stay in the Chicago a until October for continued monitoring. Catherine said she and husband, Louis, have high hopes for their spunky and strong-willed little girl who loves to dance, tell jokes and play outside with her sister, Isabel, who she adores.
“It feels good to know we have the right diagnosis and the right doctors treating it,” said Catherine.