Fred Pearce’s son died from Sudden Adult Death Syndrome aged only 19.  Is there any way of preventing it?

Ten weeks ago, my son died.  Out of the blue, at the age of 19.  One minute he was enjoying a Saturday morning jog round the back streets of Leeds, where he was a student, the next he felt weak and collapsed in a car park.  Judging by the bashed state of his face in the hospital morgue later that day, he hadn’t even put out a hand as he fell. 

Five minutes of mouth-to-mouth and heart massage from his flatmate and then shocks from the paramedics’ defibrillator failed to revive a heart that fluttered and stopped for good there in the car park. 

He can’t have known a thing about it.  Less than an hour later, at our home in London, my wife Sarah took the call from the hospital.  I was away working in Boston, so it was there that I was woken from my hotel bed to hear the worst news I’ll ever have to bear. 

I got to the hospital in Leeds that night.  But it was another two days before we finally reached Joe’s older sister, over a bad mobile phone connection in a Vietnamese café.  I’ll never forget hearing Sarah repeatedly shouting, “It’s Joe.  He’s dead” across the world to a daughter who couldn’t believe what she was hearing. 

We have since discovered that most days, somewhere it Britain, another family goes through the same horror.  Sudden Adult Death Syndrome (SADS) is the grown-up equivalent of cot death.  There are no official statistics, but doctors estimate that eight people under 35 die this way each week.  Usually the heart is to blame.  But often nobody knows quite why it gives up. 

In most cases, as with our son, drugs are not a factor, nor alcohol or other abuses of the body.  The night before his death, Joe had nothing more than a curry, a couple of beers and a game or two of Jenga. 

How do you cope with such a calamity?  We got busy.  We ensured, as he would have wanted, that parts of his body were donated for transplant.  We gave him a green woodland burial and a big secular send-off at his old comprehensive school. 

We could almost feel him standing at the back of the school hall, smiling his crooked smile and chortling quietly over the remembrances.  Of his cricket-playing and obsession with everything sporting; of his gap-year work in learning support at his old school, and travelling rough in India; of how he had been revelling in a new social and academic life at Leeds; and of his ambition to become a teacher.

Everybody noted how much time he had for people – not knowing how little he left for himself. 

In those weeks, we were amazed by the humanity of nurses who stayed on late to meet us; of coroners’ clerks able to smooth the paperwork and to laugh and cry with us; of university officers who, unasked, booked us a hotel and then picked up the bill; and of student flatmates who coped with the disaster with consummate grace, and became good friends in the process. 

We grieved in different ways.  For Sarah, the worst was seeing his body.  For me it was being confronted with his college room with the half-completed coursework, the political pamphlets, the application for voluntary work.  “Joe was the wisest, most compassionate man I know – at 19", I found myself writing to a friend. 

But still we had no answer to the real question: why did he die?  And it was soon followed by others: was it genetic?  If so, what might that mean for our two daughters? 

The initial post mortem was inconclusive, and it took some weeks for tests to be done.  That gave us time to do our own research.  We discovered the website of Cardiac Risk in the Young (CRY), a voluntary group dedicated to helping the bereaved and campaigning to cut the death toll from SADS.  And we found a bewildering array of possible causes for Joe’s death, many of them inherited. 

Two of the main groups were channelopathies, genetic defects that prevent the heart getting the chemicals that provide the electrical trigger for the heart’s beat, and cardiomyopathies, in which the heart muscle becomes diseased and ceases to pump efficiently.  The most common of these is Hypertrophic Cardiomyopathy, where the muscle thickens.  Our doctor thought that was what had killed Joe. 

But we remain perplexed.  Joe had no history of heart weakness, and had suffered none of the fainting attacks, breathlessness or chest pains that indicate heart trouble.  Nor did the family have a history of early heart disease.  Nothing seemed to quite fit Joe’s case. 

And I felt that the literature I was reading was skewed.  Doctors write about patients and diagnoses and prognoses.  But if you die unexpectedly one morning, with no preceding symptoms, you are never a patient.  You are invisible to the medics. 

In the knowledge gap, anecdote took hold.  I learned of a colleague who fainted a lot.  Once he did it at a conference in Washington, where a smart cardiologist diagnosed a genetic heart condition that no British GP seemed to have heard of.  This diagnosis eventually unlocked the cause of the death of his brother a decade before. 

And I remembered the young publisher of a magazine I once helped edit.  For a feature, the magazine tracked his health and fitness as he prepared for a marathon.  He seemed in peak condition.  But soon after the article ran, he dropped dead while in training. 

Then the Leeds pathologist floored us all by concluding that Joe had died from something we’d never heard of before all this; Marfan’s Syndrome.  Marfan’s is not a proper heart disease at all, but a genetic disorder that stops the body producing strong elastic connective tissue.  It makes people peculiarly lanky; usually whole families.  And it kills by weakening the aorta, the main blood vessel that delivers blood from the heart around the body.  Without proper connective tissue, the aorta can gradually enlarge and eventually tear close to the heart, usually disastrously. 

Frankly, we did not believe it.  We don’t look like a Marfan family.  Joe, though tall, didn’t look like a Marfan person.  But this pathologist had found that his aorta was torn.  And crucially, subsequent tests showed damage to the aorta known as cystic medical necrosis – the classic sign of Marfan’s. 

After talking to one of the world’s leading authorities on the syndrome, Dr Anne Child – who works at St George’s Hospital in South London – we have come to believe that Marfan’s was the most likely cause. 

Was that, as they say these days, “closure?”  Not a bit of it.  We still needed to know if Joe’s sisters – who had rather understandably given up jogging – also had the damaged gene. 

There is a genetic test.  We may get some results from Joe’s tissue.  But the testing is far from foolproof.  So the only practical way to screen the living is to check the aorta itself. 

Most cardiac abnormalities that can cause SADS will show up on a standard Electrocardiogram (ECG.)  But the widening of the aorta from Marfan’s is revealed on an echocardiogram – an ultrasound of the heart and aorta. 

CRY and the NHS swiftly got our daughters screened.  Thankfully, both have been given a clean bill of health.  Doctors suggest that to be on the safe side our daughters might want an echocardiogram every decade of so.  Other than that, “Carry on with your lives,” they said.  Well yes, up to a point. 

We are left with the knowledge that, while nobody can be blamed for Joe’s death, and echocardiogram at any time in the past five years or so might have saved his life, by giving him the chance of open-heart surgery to replaced the damaged stretch of aorta. 

CRY says that to avoid such deaths there should be a universal ECG and echocardiogram screening in schools.  I can’t say how cost-effective such a programme would be.  But as Alison Cox, who set up CRY after discovering that her own son had a heart condition, puts it: “We are prepared to do an MOT on our cars.  Why can’t we do the same for our kids?” 

The screening currently on offer is aimed at young, competitive athletes.  This makes some sense because they are testing their hearts to the limit more often than most of us.  But, so far as I can discover, there is no compelling evidence that the risks to competitive athletes are greater than for anyone else. 

I suspect that the focus has been on athletes because if they die during an organised activity, there has to be an inquiry into the circumstances.  There is a chain of reporting and accountability.  But Joe was out jogging with his mate, so his death was on nobody’s watch. 

In March, the government announced a drive to reduce the number of sudden heart deaths among the young.  But it ducked calls for mass screening and did nothing to establish a statistical base for knowing how many cases there are today.  The estimate of eight a week is just that, and could be far too low, according to some cardiologists.  Many such deaths, says Cox, are simply recorded as being from natural causes.  Joe’s may join them when his inquest is held in a few weeks. 

Before Joe’s death, we would look at our three healthy children and wonder at our luck.  Little did we know.