Baby Freddie developed a small cut when he was born. But when it didn’t heal, it led to a terrifying diagnosis doctors have NEVER seen before

Paddy Baldock knew his little boy Freddie was special – but he had no idea he was about to be the only person in the world diagnosed with a vanishingly rare genetic disease.

Little Freddie’s challenging and often frightening path to being diagnosed started shortly after he was born in a Sydney hospital. 

He’d had a dramatic welcome to the world eight weeks early and was doing well until his umbilical cord fell off, leaving him with a wound on his stomach. 

Paddy, 34, told FEMAIL that doctors thought the wound had become infected but Freddie was not responding to medication, leaving medical staff baffled.

After rigorous testing, it was eventually found that Freddie had a very specific genetic inflammatory disease – and he’s the only one ever recorded to have it.

Paddy Baldock knew his little boy Freddie was special – but he had no idea he was about to be the only person in the world diagnosed with a very rare genetic disease 

Little Freddie’s challenging and often frightening path to being diagnosed started shortly after he was born in a Sydney hospital, eight weeks early 

Paddy and his partner Katrine were thrilled when they found out they were having their first child and the pregnancy was going well until the 31-week mark.

Katrine went to bed one night feeling unwell and nauseous. Her symptoms were mild, so the parents decided to have a good night’s sleep before heading to the doctor in the morning.

‘I woke up at about 2am to her having violent seizures next to me in be so I called the ambulance right away,’ Paddy recalled of the frantic night.

‘She was dropping in and out of consciousness and when she did come to she was not with it, she was screaming uncontrollably. She had two or three seizures before the ambulance got there.’ 

Katrine had suffered from eclampsia, a rare but serious complication of preeclampsia in which a pregnant woman has high blood pressure and protein in her urine.

Paddy and Katrine almost lost Freddie (left) several times

Paddy and Katrine were thrilled when they found out they were having their first child and the pregnancy was going well until the 31-week mark 

Katrine was rushed to emergency and gave birth to Freddie weighing a kilo and a half on February 14, 2021

Fewer than three per cent of people with preeclampsia go on to have eclampsia and it is often picked up during routine checks, but Katrine showed no previous signs.  

‘We’d been to the obstetrician only a few days before for a routine check-up and a scan and everything was looking normal. Her blood pressure was totally fine,’ Paddy said.

She was rushed to emergency and gave birth to Freddie, who weighed 1.5kg, on Valentine’s Day 2021.  

Freddie was taken to the intensive care unit while Katrine spent two days recovering and getting her blood pressure back to a healthy level.

Mum and bub were doing well until a wound started to form on Freddie’s abdomen when his umbilical cord fell away two weeks after his birth. 

‘It looked to be getting infected so the doctors in were hitting him with IV antibiotics but it wouldn’t go away. They used stronger and stronger antibiotics and nothing was working,’ Paddy said. 

The ‘infection’ was tracking into Freddie’s wider abdomen so doctor’s wheeled him into surgery to clean the wound and see if they could get to the root of the problem. 

For two weeks, Freddie was doing well until a wound started to form on his abdomen when his umbilical cord fell away which doctors suspected had become infected

‘The doctors were all happy. He’d had a full laparotomy, which is basically a cut at the level of the belly button from side to side so his full abdomen,’ Paddy said. 

‘We were shocked by the scale of the wound but we were hopeful and trusting.’

After the surgery, Freddie was transferred to Children’s Intensive Care Unit at Sydney Children’s Hospital where he took a turn for the worse. 

‘He was on life support and coming back from the heavy sedation. I’m pretty sure we almost lost him that night because his blood pressure was so low,’ Paddy recalled.

‘At one point there were about 12 people from the ICU team trying to manage his blood pressure, which thinking back that was probably his first close call.’

Freddie’s tiny body kept succumbing to whatever was causing him to be so sick and doctors battled to save his life each day as his parents watched on in agony. 

After the surgery, Freddie was transferred to Children’s Intensive Care Unit at Sydney Children’s Hospital where he took a turn for the worst 

It was all hands on deck with specialists across an range of fields coming to Freddie’s aid and they eventually determined it was clear the issue wasn’t an infection but inflammation

‘He was in quite a lot of pain so he was heavily sedated on pain killers. We got to a point where doctors couldn’t understand how we can’t be turning a corner, we were just going deeper and deeper,’ Paddy said.

It was all hands on deck with numerous specialists across a range of medical fields coming to Freddie’s aid to work out what was going on and they eventually determined it was clear the issue wasn’t an infection, but inflammation. 

The discovery lead to Freddie being diagnosed with an OTULIN deficiency, a potentially fatal inherited autoimmune disease that is so rare only five cases have been recorded worldwide. 

Even rarer was the gene change that caused Freddie’s OTULIN deficiency, which has never been recorded in medical history. 

Interestingly, Katrine’s early onset preeclampsia and Freddie’s genetic deficiency were completely unrelated. 

‘It’s like standing in a desert and getting struck by lightning twice,’ Paddy explained.

The extreme rarity of Freddie’s condition meant medical staff had to take a ‘trial and error’ approach to his treatment

Freddie had another surgery to clean up his wound in June 2022 and after a long recovery, Paddy is proud to report the family hasn’t had one overnight hospital stay for about 18 months

The extreme rarity of Freddie’s condition meant medical staff, including his surgeon Dr Carolyn Russell and immunologist Dr Paul Gray, who Paddy credits for saving his son’s life, had to take a ‘trial and error’ approach to his treatment.

Thankfully, Freddie began to stabilise but his progression over the next year and a half was like taking two steps forward then one step back. 

His condition took unexpected turns and he had traumatic side effects from the wound on his belly. 

Freddie was in and out of surgeries, put into an induced coma, suffered a hole in his bowel and had to have a stoma bag but neither Paddy, Katrine or doctors lost hope that he could eventually have a normal life. 

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

‘He’d wake up from an induced coma after two weeks smiling.’ 

The parents were delighted when they could finally take their baby home, albeit coping with feeding tubes, oxygen tanks and stoma bags. But only a few weeks later he would be back in hospital. 

Freddie had another major surgery to clean up his stomach wound in June of 2022 and after another long recovery, Paddy is proud to report the family hasn’t had one overnight hospital stay for about 18 months. 

Paddy and Katrine have to give Freddie two-weekly steroid injections to manage his inflammation and be hypervigilant in protecting him from contracting viruses and infections

‘The doctors knew a lot about him at that stage and how to treat this condition,’ the dad said, adding Dr Russell said saving Freddie has been her greatest career achievements. 

Paddy and Katrine have to give Freddie two-weekly steroid injections to manage his inflammation and be hypervigilant in protecting him from contracting viruses and infections. 

‘(The steroids) have been an absolute game changer for him. It basically switches off his body’s inflammation that he can’t switch off himself,’ Paddy explained. 

‘His his body will continue to generate inflammation if he gets a wound or even a puncture. He’s had reactions to simple injections as well as obviously the major wound on his tummy but it suppresses his condition.’

Freddie has regular check-ins with doctors to make sure everything is okay but, for the most part, Paddy and Katrine are able to live a relatively normal life with their  ‘little fighter’.  

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

‘He’s a wonderful example for us of perspective and how to enjoy the moment and take pleasure in the little things.’

You can donate to the Sydney Children’s Hospitals Foundation to fund its clinical care and life-saving research here.