About fifteen years ago, I was sitting in my car one night chatting to a friend after a night out, when I had some type of ‘episode’. I still don’t know if it was something or nothing, but it felt like a little chaos in my chest, a small bird trapped in my ribcage.
I wasn’t unfamiliar with palpitations - the brief feeling of a fast-beating, fluttering or pounding heart - but this was different. My heart reverted to normal fairly quickly and I drove on home. There, I climbed into bed beside my small son and my husband and tried to quell the awful fear that something had almost happened and could happen again.
The next day I went to the doctor. He told me that there would be nothing wrong with my heart as I ran daily. He gave me a referral to a cardiologist who also told me that I was fine. I really, really wanted to believe these learned men but I remember sitting at my kitchen table following the cardiology appointment knowing, just knowing, that there was something wrong.
I worked hard at convincing myself that they were right, without much success. I was now aware of every little extra or skipped heartbeat, caught in a self-perpetuating loop of anxiety. Even the feel of my little boy’s speedily thrumming heart when I held him after he ran filled me with a kind of dread. I kept on running, pushing my own heart, to reassure myself that it was strong and capable.
The worry wasn’t entirely baseless. Eight years prior to this my younger brother had died suddenly at 18. As far as anyone knew he was perfectly healthy and an autopsy showed no clear cause of death. There was a suggestion that it may have been something to do with his heart but nothing conclusive.
So I got on with things, but that episode in the car had fractured my peace of mind. Around the same time, a friend of a friend died of cancer leaving two small children behind, compounding my sense that the potential for tragedy was real and ever-present.
Most days I worried about dying. I thought I was oversensitive, or paranoid, or hypochondriac, but at the same time I knew that my feelings were a sane reaction to a difficult situation. In my experience, people could just drop dead for no apparent reason.
In hindsight, I can see that I had some serious but not irrational health anxiety. My brother’s sudden and unexplained death took on a whole new significance now that I was a mother. But I also put a lot of store by gut feeling, and I had strong feelings that something was amiss.
In what seems like a bizarre paradox, these were actually amongst the happiest and most content years of my life. I loved motherhood. I had the most delightful, divine, funny and beautiful little boy. I was a stay-at-home mother, the most enjoyable job I’d ever had, and we were living the good life in sunny Australia.
Somehow, I was able to compartmentalise the fear. I told nobody about it. The love and joy that was part of my daily life outweighed but didn’t negate it. Life felt more precious than ever, and this little person was dependent on me.
Although it didn’t feel particularly relevant at the time, there was always the niggling awareness that my grandmother too had died suddenly at a young age, leaving two babies behind. Nobody knew why she had died. It happened whilst under anaesthetic to have a tooth extracted. There was no explanation; she simply didn’t wake up. This was the 1950s.
I grew up knowing that story but it was only when I was the mother of a small baby myself that the horror of what had happened really sank in. The sudden, unexplained death of a seemingly healthy young woman, leaving two babies, 6 months and 18 months old, bereft and too young to comprehend any explanation. I would look at my own baby sleeping on the breast and think about the formless longing and pain a baby must feel at the loss of its mother.
Nobody at this stage was making any connection between the death of my grandmother and that of my brother. The cardiologist I saw had no suggestions, although in retrospect I think he should have.
I admitted my worries to another GP and she gave me a referral to a psychotherapist. The psychotherapist told me I was having an existential crisis. That helped; I wasn’t just going mad. It helped to talk, to a certain extent.
I started studying part-time, a Master’s in Psychotherapy (as yet unfinished). On our first day we had to pick a name out of a hat and the name would be the person we researched, wrote about, and presented on for the semester. My little slip of paper said Irvin Yalom. Yalom is a renowned existential psychiatrist whose life’s work is essentially about death anxiety. I’d never heard of him but I immersed myself in his books and became a little more comfortable with my worries.
Over the next few years my ominous feelings were constant companions in an otherwise fulfilling life. I was mothering, home-schooling, studying, generally happy and productive. There was just something I couldn’t grasp - was it something in my past? Was it all in my head? As a student of psychotherapy I was required to have my own therapy. I talked and questioned and ruminated. There were no clear answers. Often I wished my brain had an off switch.
One day, I had a call from my mother. She was in Ireland, I was in Australia. Following a conversation with a friend, she had connected the dots between her mother’s sudden death, my brother’s teenage blackouts (he had a couple which were investigated as possible epilepsy but nothing was found), and his subsequent sudden death. There was a growing awareness of a condition called Sudden Adult Death Syndrome (SADS), and it was suggested that she look into it.
The Family Heart Screening Clinic in the Mater Hospital, Dublin, provides screening for families with a history of sudden, unexplained death so this was where she went. Sure enough, something was not right. Her ECG (echocardiogram, it records the electrical activity of the heart) was abnormal and suggestive of a condition called Long QT Syndrome. LQTS can cause fast, chaotic heartbeats (arrhythmias) which can in turn cause fainting, seizures or sudden death. Young people with LQTS have an increased risk of sudden death. Arrhythmias can be triggered by a number of things including strenuous exercise, sudden loud noises or being startled, strong emotion, or various medications.
Due to the genetic nature of LQTS, it now seemed likely that my grandmother had it and passed it on to my mother who then passed it on to my brother. There is a 50/50 chance of each child inheriting the genetic mutation from an affected parent, so I needed to get myself checked.
I went to my GP a few days later for an ECG and there it was in black and white on the paper print-out from the ECG machine - a prolonged QT interval. There was no question that I had it. The doctor had never heard of LQTS so other than instructions to arrange referral appointments as soon as possible, and a few words of consolation, there wasn’t much conversation.
I left the surgery, somewhat stunned, referral letters for cardiology testing and appointments in hand. Naturally, the first thing I did on arriving home was consult Dr Google. Bad idea.
Five minutes on the laptop and I was in what felt like a very bad dream. Here was the elusive demon; I’d found it and it was awful.
I don’t believe in god, but if I did I would have said that he had tailor-made this condition to fit my fear. A heart condition almost unknown, unpredictable, invisible, and with a treatment that didn’t offer any guarantees. I had no symptoms and that was good, but the first symptom could be death, not so good.
I felt devastated and terrified not just for myself, but also for my son who now had a 50% chance of being diagnosed with the same condition. I was an emotional wreck at a time when I was reading that I should avoid extreme emotion. I could barely peep through my fingers at what it would mean for my son as he hurtled towards adolescence, the riskiest time for boys with LQTS.
My brother had dropped dead at 18 and my grandmother had died in her twenties so death didn’t seem like a distant or improbable outcome to me.
There followed a series of appointments with a cardiologist, an electrophysiologist, more tests - ECGs, 24 hour monitors, stress tests, blood tests to look for causative genes, and medication. No more running, I was told and I didn’t need to be told twice.
I was constantly in search of reassurance, someone to promise me that nothing would happen to me, or to tell me exactly what to do or not do to guarantee particular outcomes but it was never forthcoming. This lowers risk, that increases risk, the other we just don’t know. I wanted some control over this situation but there was none. It was a harsh lesson in letting go.
More appointments for my boy. A lovely, gentle paediatric cardiologist who sang a little song about jelly on your belly as he did an ultrasound of my boy’s little heart. All seemed ok so far, but that was no guarantee as it could still show up later. He could still have the gene. I had had normal ECGs at other stages in my life, as a child and then as an adult.
My genetic testing would take months. There are several genetic mutations that can cause LQTS so it would be a matter of finding which one I had, and then searching for the same one in my boy. Only then would we know for sure whether he had it too, or not.
Meanwhile, I tried to keep a lid on my simmering panic every time he ran or bounced on the trampoline or roughhoused with his friends or the dog, which is to say most of his waking hours.
Six anxious months later we had genetic test results for both of us. He did not have LQTS, and I now knew which particular type of LQTS I had. The relief of knowing that my boy was ok made my own diagnosis easier to deal with.
It took me a long time to come to terms with the diagnosis. At times I wished we’d never found out about it; there are people going about their lives with no idea that they have LQTS, asymptomatic and blissfully ignorant. However, there have been several other diagnoses among adults and children in our extended family. Knowing about LQTS and taking the necessary precautions and medication has very likely prevented another tragedy.
It’s a strange condition. On the outside it looks like nothing is wrong, and even on the inside there is no visible fault in the heart. It’s a disorder of conduction so can only be seen in the activity of a living, beating heart, but even then it doesn’t always show up on an ECG. There are several variants of LQTS with different but overlapping risk factors. Different stages of life have higher or lower risk for men and women. There might be no symptoms at all over a whole long lifetime, but the first symptom could be sudden death.
Most people with LQTS take beta-blockers, a heart medication that is used to control heart rhythm and dull the response to adrenalin. Some people have an implanted defibrillator, a small device which monitors their heart rhythm and delivers a shock if it detects an abnormal rhythm.
Twelve years on from my diagnosis, I’ve made peace with my chaotic heart. I take the medication and I live a normal life. I run when I want to and I don’t worry about it. I’m older now though, and I no longer have a small dependent (I now have a big halfway-to-independent). I wish I could tell my younger self that it would be ok, but I know that my response was tied up with grief and love and other stuff. It was messy but meaningful, as this business of being human usually is. I wouldn’t really change anything; I learned and grew.
In my immediate family the faulty gene has stopped with me, and for that I’m very grateful.
For more information on LQTS or SADS: