My son’s umbilical cord fell off two weeks after birth, that was the first sign

“We got to a point where doctors couldn't understand how we couldn't be turning a corner; we were just going deeper and deeper.”

Alexandra Feiam

4 min read

June 4, 2024 - 7:38AM

I went into cardiac arrest and lost my baby at 27 weeks.

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Every parent believes their child is the only one like them in the whole world.

For Sydney parents, Paddy and Katrine, their son Freddie can take that statement to the bank.

When Paddy and his partner Katrine learned they were going to be parents, their whole world changed.

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Paddy and Katrine had a rocky start. Picture: Daily Mail Australia

Sydney toddler diagnosed with the world’s rarest condition

Everything was going well in her pregnancy, but 31 weeks in, she started feeling nauseous.

In an effort to feel better, the Sydney woman booked an appointment with the doctor the next morning and went to sleep early to kickstart her healing.

But at two in the morning, Paddy heard his partner having “violent seizures” next to him, so immediately called an ambulance for help.

“She was dropping in and out of consciousness and when she did come to she was not with it, she was screaming uncontrollably,” he told Daily Mail.

“She had two or three seizures before the ambulance got there.”

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Katrine was diagnosed with eclampsia, seizures caused by pre-eclampsia, a rare complication caused by excess protein in the urine and high blood pressure.

While the majority of people with eclampsia can be picked up by doctors during pregnancy scans, Katrine’s symptoms went undetected.

“We'd been to the obstetrician only a few days before for a routine check-up and a scan and everything was looking normal,” Paddy recalled, adding her blood pressure levels were “totally fine.”

Freddie had to have multiple surgeries. Picture: Daily Mail Australia

On Valentine’s Day, Katrine was rushed to the hospital, where she gave birth to her son, Freddie.

The tiny baby, born eight weeks ahead of schedule, weighed a mere kilo-and-a-half and was whisked straight to the intensive care unit.

While Katrine was recovering from birth and getting her blood pressure back to a healthy level, doctors noticed something strange on her son’s abdomen.

A wound had started to form on his little tummy; his umbilical cord had fallen off two weeks after birth and appeared to be infected.

“It looked to be getting infected, so the doctors in were hitting him with IV antibiotics, but it wouldn't go away,” said Paddy. Even with the strongest forms of antibiotics, Freddie’s condition wasn’t improving.

Medical staff took Freddie and performed surgery on his stomach, undergoing a full laparotomy, where doctors accessed his abdomen by cutting through the belly button.

Taken back to the ICU, Freddie suddenly started looking worse for wear. “He was on life support and coming back from the heavy sedation,” Paddy recalled.

His blood pressure had become dangerously low, and the stressed parents watched as “12 people from the ICU” tried to bring his pressure levels back to normal.

“Thinking back, that was probably his first close call,” Paddy said.

Freddie is a fighter. Picture: Daily Mail Australia

“Doctors couldn't understand how we can't be turning a corner”

Despite their best efforts, nothing was helping Freddie kick the infection in his stomach, leading doctors to scratch their heads.

The tot was also “in quite a lot of pain”, relying on painkillers to sedate him.

“We got to a point where doctors couldn't understand how we can't be turning a corner,” Paddy told Daily Mail. “We were just going deeper and deeper.”

Eventually, the medical staff realised Freddie wasn’t suffering from an infection; it was inflammation.

Freddie was soon diagnosed with OTULIN deficiency, an ultra-rare autoinflammatory syndrome that can sometimes be fatal.

It’s also extremely rare, with only five cases of an OTULIN deficiency ever recorded in the world.

In Freddie’s case, the gene change that caused his OTULIN deficiency has never been recorded, meaning Freddie is literally the only person in the world with the ultra-rare condition.

Following his traumatic experience at birth, Freddie has undergone things most adults have never dreamed of, including an induced coma, a hole in his bowel, using a stoma bag and undergoing numerous surgeries.

“He'd have to go to into surgery and have general anaesthetic every two or three days,” Paddy said. “He's probably had 60 general anaesthetics in his life, and he'd wake up smiling from every one.”

The little toddler, who was frequently in and out of hospital, has faced serious ups and downs in his short life, but he never goes a day without smiling.

“He's a very warm soul and he genuinely is just happy to be here,” said Paddy. “I think he's seen the edge three or four times.”

Completing regular check-ins with his doctor, Freddie is given steroid injections twice a week to manage his inflammation, which “basically switches off his body's inflammation that he can't switch off himself.”

“His body will continue to generate inflammation if he gets a wound or even a puncture,” Paddy said.