New research offers hope for kids like William, who survived 10 cardiac arrests

The first time William Pearce went into cardiac arrest he was just four years old.

His mother Nicala found him lying face up on the floor of her bedroom. It was early in the morning, and he was still wearing his pyjamas.

William Pearce battled a severe heart condition throughout his childhood.

The preschooler had been diagnosed with hypertrophic cardiomyopathy as a newborn, a disease that causes the heart muscle to become thickened and can make it harder for the heart to pump.

But until this moment there had been no warning signs his condition had dangerously deteriorated.

The image of her youngest child unresponsive on the ground is still etched into Nicala’s mind. As she called triple zero, the little boy started turning blue, and she was instructed to start CPR.

“Having to do any kind of lifesaving treatment on your child is horrible. But you either have flight or fight and [I thought] if I don’t do this, he’s going to die right here, right now, and I just have to do whatever I have to do to save him,” she said.

Sydney woman Nicala Pearce has the same inherited heart condition as her son, and had to do CPR to save his life.Credit: Edwina Pickles

Cardiomyopathy, a group of diseases that affect the heart’s ability to pump blood around the body, is estimated to affect up to one in 500 people, and often is inherited, meaning it is passed down through families. Other risk factors can include long-term alcohol use, certain infections, chemotherapy and diabetes.

For some, the disease is so mild that they may not realise that they have it all.

When William’s cardiomyopathy was discovered, it was found that Nicala had the same genetic mutation and so did her father, whose family was known to have lots of heart problems. Nicala was fitted with a heart defibrillator as a precaution, though she is yet to have any problems herself.

William Pearce suffered many life-threatening cardiac arrests.

But the type of cardiomyopathy William has is more severe when it first occurs in childhood, and it gets worse. And as his family would discover, the treatments were also very limited.

However, new research led by the Murdoch Children’s Research Institute has potentially opened the door to developing targeted treatments to restore heart function, by discovering how a mutation to a gene called ALPK3 leads to some children and adults developing cardiomyopathy.

“We think [ALPK3] is kind of like a guardian of the heart muscle that makes sure all these proteins that are so important for normal heart pumping are not getting old and damaged, and they’re actually making sure your heart muscle cells stay fresh and active,” explained researcher Dr James McNamara.

“When you lose that function, like in those patients who have changes in the DNA code, you start having more older proteins, which then leads to the loss of pumping function and causes abnormal growth of the heart.”

McNamara said they were particularly excited about the discovery, as there were already therapies targeting these types of proteins that have been used for cancer and other diseases.

“So we are really hoping that this ALPK3 may be a really strong target that we could hopefully design some new therapies for – not just patients with these [genetic] variants, but hopefully for cardiomyopathy patients as a whole.”

As a young child, William was fitted with an implantable defibrillator that shocked his heart so frequently to keep him alive that it ran out of battery in just a few years.

One of the technicians who downloaded the data from the device said he’d never seen one person have so many shocks.

William during one of his many trips to hospital.

“No one survives that,” Nicala said. “He was just like a cat, thank God.”

William had about 10 cardiac arrests between the ages of four and 11, when he received a heart transplant. About six times his family or others had to perform CPR on him, and the cardiac arrests increased in frequency.

“Our world did get a little smaller as he got older because the defib would go off all the time. It went off when he was having swimming lessons … He wasn’t allowed to run,” Nicala said.

“We knew that we could quite possibly lose him on the next event.”

Underlying the importance of better treatments, the solution for William’s hypertrophic cardiomyopathy was to have a heart transplant. He was almost 12 years old – and running out of time – when his family received a call from Melbourne saying there might be a match for him.

Nicala said they had to get William on a plane from Sydney without explaining to him what was happening. They were frightened any anxiety or excitement would cause another cardiac event, and he would die on the plane.

They were 10 minutes away from the Royal Children’s Hospital in Melbourne when they finally told him: “They’ve got a heart and it’s for you”.

“Then he cried when he went into surgery. He had tears rolling down his face.”

Now aged 16, William can now live life more like a normal teenager.

“Our life is just a gazillion times better. It’s just fantastic. We can go out for dinner. We can do anything. Before we couldn’t. Our life was just so insular,” Nicala said.

Liam Mannix’s Examine newsletter explains and analyses science with a rigorous focus on the evidence. Sign up to get it each week.

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