Sitting in the cardiologist’s rooms, awaiting the results of a genetic test that might explain the sudden death of my eldest child, I could not then have imagined the impact on my world of what was to come.

It’s 14 years since Tom died one sunny summer day, but my quest to find a plausible explanation never subsided and I never got used to not knowing why, as I had to get used to living without him.

Sometimes it’s as if the phone call that delivered the deathly news came only yesterday. I can still recall the sound of the hospital receptionist’s voice, a thudding, lifeless voice that matched the tone of the news I was about to get. “I have John on the phone”. He told me in a whisper and with an anguish I still hear from time to time. Tom was gone – his words, not mine. Our precious, lovely, gentle 15 year old giant.

Heart health: the science behind keeping heart disease at bay Read more

Like the two to three other young Australians who die each week from an underlying cardiac condition, many of whom are undiagnosed, Tom had been in full flight. He was a teenage force with energy to burn, an active, happy boy with a future looking bright. He’d been swimming in the river with his brothers, running up and down the bank, legging the stairs of the waterslide, enjoying the cool water on a summer’s day. He’d announced he was feeling sick, left the water and within an instant had collapsed a few steps along the bush track towards the family camp site where he’d pitched his little tent. A bushwalker and several paramedics had tried to revive him as his brothers and father reeled in shock at what was unfolding before them. Tom’s heart had given out.

At least this is how I imagine the scene. I wasn’t there to witness it. The first time I saw Tom was at the funeral home in a little Victorian town, hours away from Canberra, where we live. It was nearly midnight. Still in his board shorts, chest bare from swimming earlier in the day, the pads stuck on his chest where they’d tried to shock him back to life. A bruise had formed on his cheek, stopped dead in that moment when he’d obviously hit the ground.

I was so shocked to see he’d gone. He really wasn’t there and it almost wasn’t him.

The funeral was a magnificent celebration of a life cut short. We returned to work and school, driven by a need to establish normality and routine in a world whose form and structure had just collapsed. Already it seemed that I was being encouraged to “move on”, “to focus on the remaining children” even as I queried the post mortem result. Being unconvinced by a diagnosis of aortic valve disease, this wasn’t the so-called bargaining of the bereaved, it was a matter I’d spent some time pursuing, consulting medical colleagues at the university where I worked, reading as much literature as I could absorb, and talking through this diagnosis with several medical specialists.

Two years on, we found our way to a cardiology team in Sydney, the leading Australian specialists in cardiac death in the young. What a relief to have our suspicions confirmed, to join up to a research team that could bring Tom’s data into a bigger pool for analysis and to get some advice on routine screening for our other boys. This cardiologist had conducted the only Australian study of sudden death in the young. He invited us to join his research project and said he’d screen my boys.

I sat in the clinic weeping as they read us the result

But this was 2007, there were only 11 known genes for hypertrophic cardiomyopathy and the tests returned false negatives at least 50% of the time. We agreed that the test was a waste of money as it wouldn’t change any practical outcome, and so began the annual screening regime. It was harrowing but also comforting to have a routine that helped me to feel like I was doing everything I could to prevent this tragedy happening again. At first I thought a recurrence likely but as the years slipped by, no one else in our family showed any sign of being affected, and we’d not been able to find any historical trace. The boys were fit and their hearts were strong and steady, not a hint of the electrical malfunction that must have affected Tom’s.

By 2016 the cardiac chip brought a more reliable testing regime and we found that, like 40% of the clinic patient population, Tom didn’t have any of the known cardiac gene mutations. Given the decade of investigations going on worldwide it seemed unlikely there could be other genes out there. I convinced myself we’d not find the cause of his death in my lifetime, as I tried to get a handle on going on. I was plagued with missing him, I could not find a way to stem the flow of grief and sorrow that submerged me a quarter of every year, from his birthday through Christmas and into the January holidays. But although we didn’t have a result, the tests had helped us to eliminate possibilities. Building awareness that life is close to death and having contingency plans in case we got unlucky was the freedom we needed to pursue our lives.

In 2018 Twitter linked me to the cardiac team’s latest study with its reference to other conditions that can have cardiac impacts. Wading through a pile of papers that described the lovely, quirky characteristics that were Tom’s I was convinced that this was the missing clue. I contact the cardiac team, and six weeks later I sat in the clinic weeping as they read us the result. It was a de novo mutation. Tom was so incredibly unlucky and the rest of us were off the hook.

Test could predict risk of future heart disease for just £40 Read more

The news took a while to filter through. No treatment would have kept Tom alive and there’s nothing I could have done that would have prevented this. Although I wasn’t aware of feeling responsible, the lifting of a sense of heavy burden indicates otherwise.

To my great surprise, this test result is shifting my focus from Tom’s death to his life. Remembering has been so excruciatingly painful, and birthdays and death days featured as repeat endurance tests. But this time on his birthday I wake and think of his birth, see his penetrating eyes as he takes his first few breaths, see his earnest eight year old smile, and hear his lovely teenage laugh as he watches the impact of his dry wit unfold on us. We drive in Tom’s favourite car to the land that one of our sons and his partner have recently bought, telling ourselves we’re taking him to visit, commenting on all the things about it he would have loved.

Knowing the true cause has enabled me, at last, to think of his life as complete, the one that was for him, tragically short but rich and fabulous in its entirety. I find I can accept the randomness of error, the unluckiness of it all, although I am acutely aware that we are so much luckier than others.

It’s time for me to bring him home, to the new home that is the connection between us, not the physical family home we’re all leaving and he left behind so long ago. It seems fitting as his 30th birthday approaches, 15 of those years with us and 15 gone, that I should see this as an occasion for celebration of a life well lived. I could not have felt like this without the genetic test result.

• Karen Gardner is a researcher and mother of three. She is interested in health systems, inequalities, lived experiences and sustainable living