General News
14 August, 2026
Local family raises awareness for “ultra-rare” condition
Parents Desiree and Kyle Thomas hope to bring their baby Margot home to Maryborough soon. However, complications since before she was born have meant she’s only ever been in hospital.
Four-month-old Margot Thomas is a brave baby with a genetic condition most people would have never heard of.
“It started when I was pregnant, at 13 weeks she was measuring small, too small,” Ms Thomas said.
“At my 20 week scan, they found she had heart defects. She had three holes in her heart and coarctation of the aorta.”
This meant her heart’s main artery narrowed, raising blood pressure to the upper body, but restricting blood flow to the lower body.
Ms Thomas was then referred to the Royal Women’s Hospital in Melbourne, and was returning there every week.
“She was still measuring three or four weeks behind,” Ms Thomas said.
Then, born at 37 weeks, Margot weighed only 1.9 kilos.
“She was very tiny, [doctors] didn’t really know why she was so small,” Ms Thomas said.
So, at just 10 days old, Margot underwent open-heart surgery.
“It was a lot,” Ms Thomas said.
“It went smoothly, it went fine, but then a week or so later they started her on some feed. But she reacted really badly.”
Margot suffered from persistent nausea and diarrhea, and was unable to keep any nutrients. Numerous scans were done, but doctors still couldn’t determine what was wrong.
As a result, she was taken off feed for a month.
“Once they started feeding, she had to stop fairly soon because she couldn’t keep anything down. She weighed 1.9 kilos for a long time and even went below her birth weight for a couple of weeks. They couldn’t feed her,” Mr Thomas said.
“We knew we would be in Melbourne when she was born. I really only thought we would be there for a few weeks, but the surgery happened and it just feels like one thing after another.
“It just seemed for a while there to be no end in sight. Especially when they didn’t know what was wrong with her. It’s been very draining.”
The family then had to relocate to the Royal Children’s Hospital in Melbourne. They have since been staying at Ronald McDonald House.
During that time, it took weeks for doctors to diagnose Margot’s condition.
“We ended up doing a genetics test, three weeks later, we were told she had a condition called trichohepatoenteric syndrome,” Mr Thomas said.
Broken down, this long name represents the main body systems affected.
“Tricho” means hair, which grows woolly and brittle, “Hepato” means liver, which is enlarged and at greater risk of disease and damage, and “Enteric” means intestines, issues within this tissue prevent the absorption of nutrients and cause persistent nausea and diarrhea.
“Only around five kids in Australia have it, and there are only 150 cases worldwide,” Ms Thomas said.
These figures make the disease ‘ultra-rare’, and therefore harder to diagnose.
“She’s been in the hospital her whole life, and we also have a three-year-old daughter, Flossy, who has mostly stayed in Maryborough with my parents. It was easier for her to come down and visit when Margot was in a NICU,” Ms Thomas said.
“But Margot has been moved to a ward and we have to stay there pretty much 24/7, so Flossy has had to stay in Maryborough. That has been very hard for us.”
Margot is currently taking total parenteral nutrition, commonly known as TPN, where nutrients are given through a port in her chest. She is currently attached to the port 24 hours a day.
“Most children with her condition are on TPN, that port literally saves them,” Ms Thomas said.
The goal for the family now is to have Margot connected to TPN for only 12 hours at a time.
“We tried earlier this week for two hours, so far so good,” Mr Thomas said.
“The goal is to wean her off that as much as possible ... she could be on TPN for years and years down the track. We don’t know at this stage.
“She’s still very prone to vomiting. Her syndrome really affects her bowels and intestines. The most serious thing is it can really affect her immune system.”
Margot also undergoes an intravenous immunoglobulin (IVIG) infusion each month, which delivers antibodies from healthy blood to help her immune system.
“She may need them, potentially, for the rest of her life,” Mr Thomas said.
It is still not certain how much longer Margot will be in hospital, with the couple recently told by doctors it may be “at least another couple of months, most likely more.”
Until then, her aunt will be running at the Geelong Running Festival to raise money for the Children’s Medical Research Institute.
It is support like this that Mr Thomas said he and his family are deeply moved by.
“She’s a good runner,” he said.
“Everyone has been really kind and shown their support, everyone has jumped out and done things for us without us having to come to them, without us having to ask ... money adds up, all of the small things add up.
“It’s been really helpful. People making meals for us stuff like that.”
More information and a link to support the campaign can be found at geelongrunningfestival26.grass rootz.com/cmri/miles-for-margot