Baby Gwendolyn celebrates 1st birthday after receiving rare liver disorder diagnosis

Gwendolyn Barnett celebrated her first birthday last month, but the first year of her life has been a battle to save it. Although at first, there were no signs of the danger that awaited.

"She was born completely normal, healthy. Everything was well,” said mother Nicole Barnett. “And then a couple weeks in, she started looking a little jaundice, a little yellow in her skin."

That began a process of doctor’s appointments and medical tests.

Something stuck out for the Barnetts. A card that was handed to them after Gwendolyn was born, a stool colour card from Newborn Screening Ontario.

“I remember we were both looking at it in the hospital and going, you know, this is a really helpful tool, like a picture is a lot more helpful than a description or just saying, ‘It should be yellow, it should be this should be that.’”

Dr. Andréanne Zizzo, a Pediatric Gastroenterologist at Children’s Hospital at LHSC explained the condition, “Biliary Atresia is almost like there's a blockage between the liver and the gut. And so the bile can't leave. And that's what gives the poop that clear sort of chalky clay color when that connection isn't done effectively.”

An undated photo of baby Gwendolyn Barnett, who celebrated her first birthday in March 2024 after being diagnosed with a rare liver disorder, Biliary Atresia, shortly after birth. (Source: Barnett Family)

The condition only effects 1 and 16,000 children born in Ontario, but it is the leading cause of children in need of a liver transplant and liver related death.

Dr. Erika Bariciak, a neonatologist at Children’s Hospital Eastern Ontario is also the medical lead for Newborn Screening Ontario, who introduced the ‘poop chart’ in January of 2023.

"The Median age of having that surgical procedure, called the Kasai procedure, is around 66 days. Ideally, we want to get [the procedure done] under two months or even under six weeks of age. And it's a challenge to diagnose this."

Gwendolyn had the Kasai procedure about 2 weeks after being admitted to hospital, and was then put on the list for a liver transplant.

“A friend of ours who has a three year old son and grandson the same age as Gwendolyn, so a young mother with small children. She applied to be Gwendolyn donor, and within two hours, Sick Kids Hospital called her and said, ‘You are the best match and we want you to come,’ said Nicole.

An undated photo of baby Gwendolyn Barnett, who celebrated her first birthday in March 2024 after being diagnosed with a rare liver disorder, Biliary Atresia, shortly after birth. (Source: Barnett Family)

The transplant was a success, and after over 160 days in hospital, Gwendolyn is now enjoying life, turning one last month.

Her donor also came to the party, which was more than a milestone of a single year, according to parents Nicole and Chris, “I started crying again because I wouldn't be able to celebrate her first birthday if it wasn't for all these things. Everything was just in the events that just happened all fall into place.”

Chris added, “It was exciting to see her make it to her first birthday because we didn't know whether she'd be able to make the right through all this.”

April is National Organ and Tissue Donation month, and Gwendolyn can now look forward to a normal life.

The screening tool is handed out to all parents of newborns in the province and they are asked to keep a copy of it near the changing table.

The Infant Stool Colour Card. (Source: Newborn Screening Ontario)