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Abernethy Malformation: Joey’s Story

Meet Joey

Ten-month-old Joseph, called Joey, is an easy-going baby who loves car rides and traveling with his mom, Jill Kamphefner, and his dad, Josh Masters. Not even a year old, Joey already has comedic timing, making faces and grabbing his dad by the beard.

“He likes to stare deeply into your eyes and mesmerize you with his cuteness,” laughs Jill. “He’s very charming.”

Jill and Josh were referred from their local high-risk pregnancy center to the Elizabeth J. Ferrell Fetal Health Center at Children’s Mercy Kansas City. There, Joey was diagnosed with intrauterine growth restriction and Trisomy 21, or Down syndrome, before birth. Joey was born three weeks early in September 2023 and was in the NICU until late October.

Joey was jaundiced, and doctors noticed some liver abnormalities, including high ammonia levels, during testing.

“As they were doing an ultrasound, they found an abnormal connection between the portal system and central circulatory system,” said Bhargava Mullapudi, MD, Division Director, Transplant Surgery.

“They said, ‘Okay, we know what this is, and you're in luck, because there's only a handful of doctors in the United States that deal with this — and one of them works here,’” remembered Jill.

The Fetal Health team was talking about Dr. Mullapudi. He met with Joey’s family and explained the condition is called Abernethy Malformation, or a congenital portosystemic shunt. Joey’s portal vein, which takes blood from the intestines to the liver, was sending blood right to his heart instead of routing it through the liver for processing. 

“The liver itself was fine, but all the vasculature going to it was like a bypass highway,” said Jill. “It was just circling around where it was supposed to go.”

It’s unusual for this diagnosis to be caught so early. Often, the problem goes undetected until much later when serious symptoms arise.

“Because our bodies are amazing, they’ll mask what’s going on and find a workaround,” said Dr. Mullapudi. “But at Children’s Mercy, we’re used to thinking outside the box and seeing what else is going on.” 

Joey’s portosystemic shunt was extra-hepatic, or located outside the liver, so it was surgically correctable. Dr. Mullapudi and the team began to plan for surgery but wanted Joey to have several months to grow before they operated. He started medications to decrease the amount of ammonia in his blood, moved from a feeding tube to a bottle and gained weight. 

Dr. Mullapudi realized the location of Joey’s shunt might make it possible to operate laparoscopically. It’s a novel surgical approach for Abernethy Malformation, with only a few other examples in medical literature, mostly with adult patients. But laparoscopic surgery has significant advantages, including smaller incisions and faster recovery times. Joey’s team decided it was the best approach for him. 

Joey had his one-of-a-kind one-stage, laparoscopic-assisted portosystemic shunt ligation surgery on March 25.

“We used tiny instruments to isolate the shunt, and we also made a small incision to get access to the portal system to get the pressure monitoring that we needed,” said Dr. Mullapudi. They were able to fix the shunt with a single surgery.

“It was remarkable,” said Jill. “He had surgery on a Monday and went home on Wednesday. By then, he was ready to come home, sit in his own bed, have formula and just be his usual baby self.”

Joey’s follow-up liver care is straightforward, with regular labs and imaging to make sure his liver is working the way it’s supposed to. Joey's family works with a multidisciplinary team (including Cardiology, Neurology, Urology and more) to monitor his overall health at Children’s Mercy as well.

“He’s had ultrasounds, and they can’t even tell he’s had surgery on his liver,” said Dr. Mullapudi. “He’s growing beautifully, and the blood is diverted as it’s supposed to. From that standpoint, he’ll avoid any future liver problems or need for transplantation.”

 

Jill reports that Joey has been growing quickly post-surgery, loves to try new baby foods and has been kicking up a storm. “He can be laying on the floor, and his legs are just going a million miles an hour,” said Jill.

“He’s already started to develop a personality,” said Dr. Mullapudi. “I would say he’s a very chill dude. He’s a happy baby, and he’s very resilient.”