Long QT syndrome: the Foley family's story
Four of Julie and Lloyd Foley's 5 children have been diagnosed with Long QT syndrome (LQTS). Julie and Lloyd spoke to myDrabout their family's experience with LQTS, which is thought to result in between 20 and 230 deaths in Australia each year.
What is Long QT syndrome?
Long QT syndrome is an abnormality of the heart’s electrical system.Although the mechanical function of the heart is normal, the electrical problem is caused by defects in heart muscle cell structures called ion channels. These electrical defects predispose affected persons to a very fast heart rhythm.
The usual symptoms are sudden loss of consciousness (syncope) or sudden death, which typically occur during physical activity or emotional upset. These most commonly begin in pre-teen to teenage years, but may appear from a few days of age to middle age. The consequences of these symptoms can include apparent drownings.
The syndrome gets its name from the distinctive 'signature' or shape of the wave—an unusually long interval between the 'Q' and 'T' wave points—shown on an electrocardiogram or heart monitor. This shows how long it takes for the heart to return to 'normal' after contracting and pumping blood through the body.
LQTS can be acquired, but is mostly inherited. The acquired version of the syndrome is believed to be most often due to the administration of certain medications.
The Foleys: the symptoms and the uncertainty
Julie and Lloyd Foley’s 5 children had always been very fit and healthy until their daughter Claire began having fainting spells around the age of two-and-a-half.Doctors were initially unsure about what was wrong with Claire.
‘At first the doctors thought it could be febrile convulsions, then maybe a viral infection, low blood sugar levels, attention seeking or epilepsy,’ Julie explained.
‘We never thought it was anything serious because I had fainting spells when growing up and seemed okay, but we wanted to do all we could to help prevent them from occurring as it was still very worrying,’ she said.
Claire’s symptoms gradually became worse and more frightening.
‘Claire’s fainting spells were becoming more common as time went by, and she would take longer to wake and be alert. Shortly before she fainted she would hold her head and scream: she began to recognise the feeling just prior to dropping. Her heart would be racing very, very fast.’
Still, the family and their doctors had no idea about what was happening to Claire.
‘We don’t think she understood that she had a medical problem; neither did we for that matter, because we were constantly told by doctors that there was nothing to be concerned with. Claire wasn’t on any medication.
‘We felt that the epilepsy diagnosis was wrong because the EEG (electroencephalograph) tests that were performed all came back clear, so we knew it had to be some other reason causing the faints,’ Julie said.
Making the connection
It wasn’t until Claire’s brother Michael was found unconscious in the school playground that the family began to make a connection.Julie said: ‘when Michael was found in the school playground unconscious, he was near the playground equipment and so it was thought that he could have fallen and knocked himself unconscious.
‘However, after taking him to hospital for a CT (computerised tomography) scan, commonly known as a Cat Scan, and having nothing show up, the doctor suggested that he had low blood pressure and that the unconscious event was nothing more than a simple faint, which he said was his body’s way of dealing with having low blood pressure.
‘He said that Michael would probably continue to faint now and then but there was nothing to worry about.’
Meanwhile, another brother, Alex, was experiencing night terrors. 'He would scream out during his sleep, then when we attended him he would talk about having a bad dream, then make a sigh and flop back on his bed in a faint. He would be clammy and cold to touch, very white and breathing very shallow at these times.'
But Julie was not sure about the lack of an accurate diagnosis: ‘I did question the doctors about there being some 'bad blood' in the family somewhere along the line with having 3 of our children having fainting spells, especially since Alex was also having the night time events. But the doctor shrugged it off as being nothing more than coincidental, and thought I was clutching at straws to try to find answers.’
The diagnosis
The Foleys were understandably relieved when Claire was finally given a diagnosis.‘When Claire was diagnosed with LQT we felt relieved at finally having a reason for the fainting spells. But we had no idea how serious LQT was: we were just pleased that now we could treat it and things would be better, or so we thought.’
But it wasn’t long before the full ramifications of the diagnosis were revealed. ‘The very next morning the cardiologist called to let me know that the condition was genetic and asked if anybody else in the family had ever fainted. I knew straight away that Alex and Michael must also have Long QT syndrome.’
The family all underwent ECGs at this stage and it was discovered that 9-year-old Alex and 7-year-old Michael also had LQTS. Three-year-old Emma required further tests and was eventually also found to have the condition. The Foleys’ other son, Jeff, aged 12 at the time, was the only child found to be clear of LQTS.
It had been assumed that Julie was the carrier of LQTS, especially as the disease is appearing more and more on her side of the family. However, the Foleys recently received the results of genetic blood tests from the United States that stated that it was Lloyd who had the syndrome. The family suspect that there may have been a mix-up with the names, but have been plunged into uncertainty once again until the results of further tests become known.
The treatment
Julie and Lloyd were shocked when told that Claire, at the young age of 5, would need to have a pacemaker.‘Our first reaction was that pacemakers are supposed to be for old people, not children, since we were both fairly ignorant to the fact that children could possibly need a pacemaker. I suppose this was a real eye opener for us.’
The other children didn’t know quite what to think about the situation.
'We don’t think the children understood what a pacemaker was or why they needed one: they didn’t have any time to react to it really because it did all happen so fast.’
Michael and Alex soon also had pacemakers inserted.
‘Alex had his pacemaker a few days after Michael. Alex was considered to be more at risk than the others because if he hadn’t called out during the night when having the bad dreams there would be no help at hand, whereas with Claire and Michael passing out during the day help was more available. And so it was decided that Alex did need a pacemaker as well.’
As Julie explained, Alex was more concerned about having a pacemaker than his younger siblings. ‘Alex was the most worried about the need for a pacemaker as he was a little bit older and understood the seriousness more than the others.
‘He actually prayed and wished so very hard that he wouldn’t need one, so when it was decided that he did need one he became very quiet and inwardly upset about it all. He gave up praying and wishing altogether.’
The 4 children now all take medication, a beta blocker called atenolol every 12 hours, to help regulate their heart rhythm. Michael also has asthma, which can be affected by the beta blocker, but Julie reports that fortunately the treatment for his asthma hasn’t been affected by the treatment for LQTS and both conditions have been kept under control. The children are not allowed to have any caffeine, so Coca-Cola is reserved for treats on special occasions only!
Coping
When the diagnosis was first made, and the Foleys realised how many members of their family were affected, they were understandably shocked.‘I don’t know how we managed. I think we all felt numb and it hadn’t yet sunk in how serious the condition was or the fact that this was really happening,’ said Julie.
‘It felt like we were different people in different bodies and as though we were living in a bad dream that we couldn’t wake up from. Each step taken at the time felt like it wasn’t real and that you were floating somehow, and you would wake any time and find this was not really happening. Nothing felt real.’
Lloyd spoke of his reaction from a father’s point of view. ‘I feel that the shock of being told your family has a major health problem puts a great strain on all members of that family.
‘However, with a great amount of effort, all things can be put into some sort of perspective. It is now a day-to-day thing.’
Support and negative reactions
The family has received some support from other people, but has also encountered negative reactions to their situation.‘Our main support came from friends and teachers and some family members in the beginning,’ said Julie.
‘Not all family members were supportive; some didn’t want to know. We now realise that this seems to be how many other families also react with the Long QT syndrome—each person deals with it differently and in their own way.'
‘We have had plenty of negative comments and reactions from many people. This is quite often from those who have no understanding of the condition or those who aren’t willing or interested enough to find out more about it.’
SADS Australia
Julie and Lloyd established SADS (Sudden Arrhythmia Death Syndromes) Australia and the Sensitive Hearts Support Group in an attempt to fill the huge gaps they discovered existed for families in need of advice, information and support about such conditions.They also hope to educate the general public and the medical profession about the syndromes.
As Julie explained, ‘when we first had the LQTS diagnosis in August 1996, we searched on the Internet for as much LQT information as we could get.’
‘There was nothing at all available here in Australia on the condition, but we came across the SADS Foundation in US and it offered an enormous wealth of information, support and understanding for us in the beginning.'
‘As time went by, we wanted to be able to offer the same type of help and support to other families diagnosed with the condition here, so we decided to begin the Australian branch of the SADS Foundation with the help of the SADS Foundation in the US,’ Julie said.
The Foleys were overwhelmed by the response, which was almost instantaneous.
‘We had families contact us almost as instantly as we had the Australian SADS website published, many thinking they were the only family with the condition here in Australia.'
Last Reviewed: 24 April 2001
Sponsored links
