The critical issue of family screening

Alison Cox MBE
CRY Founder

The critical issue of family screening – Alison’s Column Update 74

In 1995 when I started taking calls – nearly always from distraught mothers after the sudden death of their child – one of the most important things I knew that I needed to clarify was whether they had any other children because of the risk of another family member having the same condition.

Few pathologists, in those days, considered evaluation to be urgent ‘because the young person is dead and so being told what condition they died of will make no difference’. It was not unusual for pathology results to take in excess of 18 months before the family received the cause of death. The long wait was not only excruciating, but left family members (unknowingly) exposed to the terrible risk of another child dying. Only well informed pathologists were aware of the genetic implications and there were few specialists. There was also the hazard of a misdiagnosis, another reason why other children remained at risk.

In addition to pathologists lacking expertise in the 1990s, few cardiologists had much experience of identifying these conditions as well. The most commonly diagnosed, if there was an unaccountable young sudden cardiac death, was the heart muscle condition hypertrophic cardiomyopathy, a structural defect of the heart.

So, not only did the family (including mum and dad) need to accept that family screening was strongly recommended because the condition was genetic, but also that it needed to be done by a specialist, which involved persuading their GP that the local hospital was not suitable. This, almost invariably, left the family confronting a significant (and often expensive) journey to the specialist cardiologist – a daunting prospect in itself when managing young children. Consequently, it was not unusual for the devastated person who I spoke with to be unable to contemplate screening for the family to identify whether any other family member was carrying the same condition.

Without an accurate diagnosis, a cocoon of secrecy could develop about the unaccountable death which had social ramifications in the community. The family were sometimes treated with suspicion. No one had heard of sudden death syndrome. They became vulnerable to whispering campaigns about drugs being the cause of death if an adolescent had died, or child abuse if a younger death occurred, which greatly exacerbated their suffering.

Another anxiety for parents was that the testing would expose one of them as being the ‘culprit’ carrying the deadly gene. They were fearful that they would not be able to bear the burden of responsibility of having a condition that had killed their child. Sometimes a member of the family would refuse to be screened, claiming potential complications with their mortgage, or that receiving a diagnosis might affect their job prospects. Because it was all such a very delicate issue it would only be several calls later that we could start to discuss how to get the other children tested and the importance of family screening. It had to be emphasised that it was crucial for mum and dad to be screened as well, because it would not only help inform the doctor of the condition that affected the family, but if either were diagnosed it would have ramifications for siblings.

In 1998, heart rhythm problems started being considered as a cause of death when 26-year-old Anna Loyley died suddenly at the end of the Bath Half Marathon. Anna’s finish photo shows her with a radiant smile as she crosses the line. 10 steps later she collapsed and died. St John’s Ambulance were near the finish line, but their team were unable to operate the defibrillator immediately, delaying the machine’s impulse to jolt her heart until its 9th attempt.

Anna’s father was determined to expose what he felt was the incompetence of the St John’s Ambulance team. Historically, they had never been challenged in their 97-year history and Mr Loyleys’ lawsuit made national news. It also raised the important issue of being aware of dangerous heart rhythms which, if not identified and treated, could result in sudden death. It was not a structural heart abnormality that killed Anna; it was a faulty heart rhythm which could not be identified after death when the heart had stopped beating. This was a major problem for the pathologist and the heart was classified as ‘morphologically’ normal.

With 2 causes identified, the statistics for young sudden cardiac death escalated rapidly from 1 death a week to at least 4. But still nothing formal was done to help families get screened after their tragedy. And then, in March 2004, the “Cardiac Risk in the Young (Screening) Bill” successfully presented by Dari Taylor MP to the House of Commons resulted in a new Chapter (8) being included in the National Service Framework. This was a massive breakthrough for CRY. We finally were able to refer to Chapter 8 when encouraging both young people with symptoms and families
affected by a tragedy that they had a right to be screened on the NHS. Chapter 8 emphasised the critical importance of screening after a young sudden cardiac death because these conditions were genetic and family members had a 50% chance of having the inherited condition.

In 2005, it was agreed that there should be a 5-year consultation period to be held in the Department of Health and overseen by the ‘Heart Tsar’ Professor Sir Roger Boyle. Everyone considered to be affected by the complicated issues involved was to be consulted; cardiologists, GP’s, nurses, physiologists, pathologists, associated charities, and coroners among them. Interest in both the medical profession and the media was generated and the importance of specialist referrals for young sudden cardiac death was finally recognised. Crucially, GP’s became aware of symptoms that, if referred to an expert, could be treated and young lives could be saved.

Professor Sanjay Sharma at launch of the CRY Centre at St George’s

In 2010, CRY established a Centre for Inherited Cardiac Conditions and Sports Cardiology under the aegis of Professor Sanjay Sharma at St George’s hospital, Tooting, where families affected could expect to have all the relevant tests together on the same day. These included an ECG (electrocardiogram), echo (ultrasound) and exercise test. If they were found to need further investigation, the follow-up ajmaline or MRI test would be booked as soon as possible. An optional genetic test was also considered. At the conclusion of the family’s tests they saw a doctor who answered their questions and discussed their family history prior to giving his/her diagnosis. Before leaving St George’s they were fitted with a 24-hour tape called a Holter Monitor which needed to be returned to the hospital to be included when finally assessing all results. All St George’s referrals must be made through the GP, and all tests are done by leading cardiac and physiology specialists.

If I talk to a parent after their tragedy and prior to the screening, I always stress the value of the family being seen together, something which Professor Sharma strongly agrees with. There is inevitably significant anxiety prior to the screening and if you can all be together, the screening becomes a part of the grieving process. You are there because a family member has died and being able to talk about it, discuss your worries together, and refer back to it together afterwards can mean you are more likely to feel comfortable about the whole process.

At the CRY Centre we find that if the family are seen together, it facilitates the doctor being able to seamlessly compare your results, whilst also allowing every family member to question the same doctor. It creates a more comfortable base from which there can be ongoing discussions at home. The diagnosis is often challenging, bringing together many different pieces of a puzzle to get as accurate a picture as possible. This is why specialism is so important. Furthermore, different cardiologists can have different opinions and when families are not seen together the inconsistent information can cause a stress for them when trying to restructure their lives. As these tests are NHS referrals CRY does not get involved with the organisation of the tests, but will send you information as to how to proceed if you contact the CRY office.

CRY Research Fellows past and present, with Professor Sanjay Sharma and Professor Mary Sheppard at the 2017 CRY Parliamentary Reception

Our CRY Centre of Inherited Cardiac Conditions and Sports Cardiology is reputedly one of the busiest ‘first referral’ clinics in the UK. This is because patients are prepared to travel from all over the country to get their diagnosis at our centre. CRY’s doctors are always willing to work with the family’s own cardiologist in their local hospital after their diagnosis, if that is their preference. This culture of sharing information is one that Professor Sharma has always insisted on with his team of Research Fellows training at St George’s. It is reflected in how generously he shares his research and why so many doctors attend our annual medical conference in London – just to get updated on CRY’s latest research. It also contributes to why Professor Sharma is in such demand to present at international conferences. Nothing better illustrates the way in which the CRY Centre operates. That, above all, it is only the well-being of the patient that matters, which is every
doctor’s obligation to respect and be dedicated to.

Alison Cox MBE