CHKD Patient’s Story is a Rare One

Easton Payne is a one-in-a-million type of kid because of his personality. He’s also a 1 in 70,000 kind of kid because he has a rare genetic disorder. Thanks to quick diagnosis and care, Easton is surviving and thriving and raising awareness. Join us in celebrating children like Easton on Rare Disease Day.

Easton was uniquely theirs when he was born in October of 2016 to Jessica and Darren Payne. But there was something else rare about him, something that took a few days to surface.

When he was three days old on the same day his parents took him home to Shawboro, N.C., he seemed lethargic and he wouldn’t eat much. His temperature was lower than it should have been. A frothy fluid was coming from his mouth. Since Easton was their first child, they didn’t have anyone to compare him to, but they knew something was wrong.

They called their pediatrician, Dr. Paul Whiteside, who advised them to go to CHKD’s emergency department. Once there, Easton began a three-week journey of tests to figure out what was wrong. His ammonia and acid levels were so high, his organs were starting to fail. Blood had to be drawn from his lungs to keep him breathing.

Dr. Samantha Vergano, a medical genetics specialist who practices at CHKD, believed he had a rare disease with a very long name: argininosuccinic aciduria.

That’s a urea cycle disorder in which a child lacks an enzyme to break down and remove nitrogen from the body. It occurs in about 1 in 70,000 to 218,000 infants.

Jessica remembers sitting with her husband, Darren, in the parking garage at CHKD after getting the suspected diagnosis, feverishly Googling the disease. Jessica tapped the term into a baby app discussion board. “A single post came up from a mother who lost her newborn to a form of UCD. She was reaching out to hear from other mothers and families who knew of the disorder, to share their experience and knowledge on the topic...there were no replies. The post was four years old at that time.”

It was a sobering moment: “It was scary, not knowing where we were going, what would happen.”

Dr. Vergano, who is the director of medical genetics and metabolism at CHKD, started a medication and treatment regime for Easton. He had to be fed every three hours, and would be very limited in what and how much he could eat to keep ammonia from building up in the blood.

One other thing: He’d need a liver transplant.

The Paynes followed Dr. Vergano’s directions to the letter, and when he was 4 months old, he was put on the waiting list for a liver transplant at Duke Children’s Health Center in Durham, N.C. About a month later, they received word a liver was available. They drove there, but the liver wasn’t a good match. That happened three more times before the fifth call resulted in a June 4, 2017, transplant.

Jessica remembers going to a store shortly after that. “There was no food in that store that I had to label check or weigh before feeding him. I texted a picture of the aisle to my parents, saying that the world of food now belonged to Easton. No longer would he have to worry about brain damage as a consequence of eating protein.”

The family sees Dr. Vergano and Easton’s doctors at Duke every six months, and labs are drawn every three months. Gradually, the length of time in between will lengthen. He has some mild delays, and still needs medications. But his rare disease has not kept him from thriving.

“At first, it was lonely because you don’t have a lot of other families who can relate to you locally,” Darren said. “The rare part is scary. As time has gone on, there’s more awareness, and it gets easier and you don’t feel so alone.”

Plus, there’s Easton’s smile and laugh to keep them going.