Boy one dying of cardiomyopathy barth syndrome – after losing his older brother to the same disease


A little boy with an ‘infectious smile’ is fighting for his life with a heart condition that affects just one in 400,000 children, and that killed his brother at the age of eight months.

Nickolas Kakias and Elizabeth Miroforidis were heartbroken when they found out their son Alexander Kakias had cardiomyopathy barth syndrome – the same genetic disease that lead to the death of their second child Elias in August 2018.

The parents, from Peakhurst in Sydney’s west, told Daily Mail Australia that Elias’ condition was severe from birth and he was never going to survive, but they are determined to turn things around for Alexander.

Despite being significantly stronger than his brother and hitting all his toddler milestones, his health has started to deteriorate and he faces a year-long wait for a heart transplant.

Pictured: Nickolas Kakias and Elizabeth Miroforidis with their sons Alexander, age one, and Romeo, age eight

Pictured: Nickolas Kakias and Elizabeth Miroforidis with their sons Alexander, age one, and Romeo, age eight

Pictured: Elias Kakias before he died at the age of eight months in 2018 from a rare heart condition

Pictured: Elias Kakias before he died at the age of eight months in 2018 from a rare heart condition

Pictured: Alexander Kakias, who suffers from the same condition as his brother Elias, who died

Pictured: Alexander Kakias, who suffers from the same condition as his brother Elias, who died

Cardiomyopathy barth syndrome means the youngster has an enlarged and weakened heart, muscle weakness, and suffers from recurrent infections due to a small number of white blood cells.

The couple didn’t know what the condition was before they found out it was killing Elias soon after he was born, but were told by doctors not to worry because their next child had a one per cent chance of having the life-threatening illness.

Ms Miroforidis, who is a full time mum, had a genetic test done on Alexander when she was was 21 weeks pregnant, and was devastated when the results came through.

‘Finding out that your child has the exact same condition that took the life of your eight-month-old just three years prior is something no parent wants to hear,’ Mr Kakias, who is a truck driver, said.

Pictured: Elizabeth Miroforidis with her sons Alexander (left) and Romeo (right)

Pictured: Elizabeth Miroforidis with her sons Alexander (left) and Romeo (right) 

Pictured: Nickolas Kakias with his sons Elias, who later died, and Romeo, who is eight

Pictured: Nickolas Kakias with his sons Elias, who later died, and Romeo, who is eight

Pictured: Alexander in a coma in hospital to relieve the pressure on his heart. He is on the list for a transplant

Pictured: Alexander in a coma in hospital to relieve the pressure on his heart. He is on the list for a transplant

‘We had the option to terminate, but I couldn’t do it.’

The family felt confident because, unlike with Elias, Alexander would start receiving treatment from the moment he was born.

They tried to keep the youngster healthy and kept his medical team at Westmead Hospital informed every time he had a bug.

But months after he learned to pull himself up and walk, play with his eight-year-old brother Romeo, and say ‘mum’ and ‘dad’, his condition started to deteriorate.

‘One morning he woke up and I just knew he wasn’t being himself,’ Ms Miroforidis said.

Pictured: Romeo holding his brother Alexander. His mother said the pair are inseparable

Pictured: Romeo holding his brother Alexander. His mother said the pair are inseparable 

Pictured: Elizabeth Miroforidis with her sons Romeo and Alexander at the grave of her middle child, Elias

Pictured: Elizabeth Miroforidis with her sons Romeo and Alexander at the grave of her middle child, Elias

‘We took him to the hospital and it turned out his heart was only operating at four per cent of its capacity.’

To relieve the pressure on his heart, Alexander was placed in an induced coma and moved to a hospital in Melbourne.

He was heavily medicated, but the medication stopped working as well as it had been and the couple had to make the heartbreaking decision to put their son on the heart transplant list.

While he waits, the little boy will be given a Berlin heart – a device that mechanically supports the muscle in patients with end-stage heart failure.

‘Unfortunately, this is the scariest part of us as our late son Elias was put on a Berlin heart in 2018 which resulted in a blood clot and brain damage,’ Mr Kakias said.

Pictured: Alexander in hospital. He has learned to pull himself up and say 'mum' and 'dad'

Pictured: Alexander in hospital. He has learned to pull himself up and say ‘mum’ and ‘dad’

Pictured: The Berlin heart when Elias was using it

Pictured: Elizabeth Miroforidis with Alexander

Alexander will need to be placed on the Berlin heart (left), which gave his brother blood clots

‘As hard as it is for us, we need to make the right choices for Alex that will give him the best chance at life so we can bring him home to be with his brother and so we can be a family again.’

To help raise money to cover the family’s medical costs, family friend Megan Collier set up a fundraiser.

‘Whilst family and friends can help with emotional support we really need to help ease the financial pressure as this beautiful family once again goes through what most of us couldn’t even imagine,’ Ms Collier wrote on the campaign page.  

The family wanted to thank Ms Collier, Big Fat Greek restaurant and local night club Defi II for their support during their difficult ordeal.

They are now passionate about spreading awareness about the danger of congenital heart conditions. 

WHAT IS CARDIOMYOPATHY BARTH SYNDROME?

Cardiomyopathy barth syndrome is a genetic condition that mainly affects males. 

Some of the symptoms of the condition include enlarged heart, low blood cell count, weakness of muscles, and fatigue.

It is mainly found in early infancy or childhood. However, in some patients, symptoms appear in adulthood.

In some people with Barth syndrome, the heart muscles become very thick making it difficult to pump blood.

Sometimes this thickening may be due to the build-up of connective tissues and elastin fibres.

In other patients, the left ventricles do not develop properly. Instead of the muscle being smooth, it becomes thick and spongy making it difficult to pump blood. These heart findings are almost always present before the age of five.

Source: rarediseases.org 

 

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