Our little boy seemed perfect… then we were told every parent’s worst nightmare. This is our warning

When Ivana Goluza Riddell gave birth to her second son, her heart swelled with joy. Baby Felix was small – just 2.3 kilos and born a little early – but otherwise, he looked happy and healthy.

‘He came into the world, and he looked perfect,’ Ivana told the Daily Mail.

The Wollongong mum never expected her son to soon be diagnosed with a congenital heart disease and Myhre syndrome – an ultra-rare condition with only 200-300 cases diagnosed globally, and affecting only 12 families in Australia. 

There had been a few moments of uncertainty during pregnancy.

Early scans suggested a possible heart defect, only for doctors to later say it was likely a mistake.

‘It was a bit of an up and down during pregnancy,’ she said.

‘But by the time he was born, we thought everything was okay.’

Then, during a routine baby check, a doctor heard something they couldn’t ignore.

‘Nobody was panicking,’ Ivana said, ‘they just heard a little heart murmur.’

But further checks led to an urgent transfer to the Royal Women’s Hospital in Randwick. There, doctors performed an echocardiogram.

‘As soon as we got there, they did an echo and said Felix had quite a complex Tetralogy of Fallot,’ she said.

‘And it all just struck us from there.’

Tetralogy of Fallot is a serious congenital heart condition made up of pulmonary stenosis, right ventricular hypertrophy, and an atrial septal defect.

The heart problems affect the structure of the heart, and cause altered blood flow through to the rest of the body.

While it can often be surgically managed, Felix’s case wasn’t straightforward.

As testing continued, doctors discovered his pulmonary arteries were severely underdeveloped.

‘The lungs are like a tree of vessels, and all of his vessels are very, very small,’ Ivana explained.

Suddenly, hospital life became normal. Felix spent long stretches between Randwick and Westmead, as specialists tried to understand the full picture.

A phone call no parent is prepared for

At two months old, Felix seemed to be coping. The family was focused entirely on his heart.

Then the geneticist called.

‘We were at home when he rang,’ Ivana said. ‘He said they found something during the exome sequencing called Myhre syndrome.’

The diagnosis landed like a second – and heavier – blow.

‘Every diagnosis was devastating,’ she said.

‘With the heart condition on its own, you can reframe your expectations. It can be well managed. But then you keep adding more things.’

Myhre syndrome is an extremely rare genetic condition caused by a mutation in the SMAD4 gene. It affects multiple systems in the body and is progressive, meaning symptoms often worsen over time.

‘The worst part is that it keeps making things worse. There’s progressive scarring and stiffening – stiff rib cages, stiff muscles and joints, stiff heart, and the gut as well.’

For some children, the condition is life-limiting.

‘We’ve had kids and young adults in our community pass away,’ she said.

‘When you see 18-month-olds dying from complications, it’s devastating.’

There is no cure. Treatment is reactive – responding to symptoms as they appear.

Learning to fight a disease doctors rarely see

Because Myhre syndrome is so rare, many clinicians have never encountered it.

‘That’s been one of the hardest parts. Symptoms can present differently, and sometimes clinicians haven’t seen this before.’

The family quickly learned that survival depended on collaboration – between doctors, parents and the global Myhre community.

‘There are things that don’t behave the way they’re supposed to,’ she said.

One example was Felix’s feeding tube. While most children tolerate gastrostomy tubes well, Felix was in pain.

‘Clinicians were saying it shouldn’t hurt – but the community told us otherwise.’

Through shared experience, the family learned how to reduce Felix’s discomfort – taping the tube to prevent rotation, increasing its size, changing the type of tube, switching to blended real-food feeds, and using bolus feeding instead of constant feeds.

‘All these little one-percent made a huge difference,’ she said.

Even Felix’s heart surgery required special planning.

‘His cardiologist and cardiothoracic surgeon carefully designed ways to minimise trauma,’ Ivana said, ‘because trauma can accelerate scarring in Myhre.’

‘You can’t protect them from everything’

Emotionally, Ivana says the diagnosis has been relentless.

‘Your expectations and reality are very different. We grapple with it every day.’

The hardest part is pain – knowing Felix hurts, and sometimes there is nothing more they can do.

‘You want to protect your children from everything. And when you can’t, it just eats away at you.’

Felix’s challenges sit alongside ordinary baby struggles – teething, irritability, sleepless nights – creating a confusing mix of normalcy and fear.

‘He’s got G-tube site pain, lower oxygen at times. But he’s also just teething, and that’s awful for any child.’

Despite everything, Felix has moments of joy.

‘He’s a really sweet little boy. He loves a laugh,’ she said.

A family balancing hospital life and childhood

Felix’s days are unpredictable.

‘Some days are full of therapies or trips to Sydney for check-ups. Other days, we get to go to the park.’

At 18 months, Felix is much smaller than other children his age.

‘Everyone thinks he’s a little baby,’ she said.

At home, his big brother Oscar – who is five and a half – is learning resilience far beyond his years.

‘He’s spent time sitting in hospital instead of going to the beach. But he’s been so patient and understanding.’

The boys share a close bond.

‘They cuddle every morning,’ she said.

‘Felix knocks over Oscar’s Pokémon collection and chews on it, which frustrates him – but that’s just siblings.’

Ivana believes the four-year age gap helped.

‘Oscar had a lot of one-on-one time before Felix came along. And that’s helped him cope with how much time Felix needs now.’

Turning grief into action

The weight of Myhre syndrome has pushed Ivana and her family into advocacy.

‘We felt compelled to do something more. This disease needs awareness,’ she said.

She believes rare diseases like Myhre could benefit from breakthroughs already happening elsewhere – from repurposed medications to gene-editing technologies.

‘There are drugs sitting on shelves that might be candidates. We just haven’t looked at them for Myhre.’

For now, the family lives in two timeframes: today, and the future.

‘We’re trying to help Felix now – giving him our presence, creating family memories. But we’re also thinking about Felix in 10 years’ time.’

The family has started the Myhre Syndrome Foundation to spread awareness about Myhre and also the 300million people living with rare diseases globally. 

‘This is our warning’

Ivana knows most parents never expect a diagnosis like this.

‘We thought our baby was perfect,’ she said.

‘And then everything changed.’

Her message to others is simple but urgent: listen, question, and advocate.

‘Rare diseases are devastating – and most of them have no treatments.’

Still, she finds strength in community – and in Felix himself.

‘We’re just so grateful he’s with us,’ she said.

‘And we’ll keep fighting – for him, and for every family like ours.’