Living with a Fontan Circulation – Tricuspid Atresia by Jara Weinkauf

Even though there was no history of heart disease in my family and my parents led a very healthy lifestyle, I was born with tricuspid atresia in 1986 in Berlin/Germany.

Doctors noticed that my skin was very blue and something had to be wrong with me.

After a palliative operation as a baby, I had a Fontan surgery when I was four years old to fix the cardiac defect. A Fontan operation was still very new at that time, and the operating surgeon had just come back from the U.S. were he learned to do this operation. If I had been born maybe five years earlier, my chances of survival would not have been as positive.

During my childhood my parents always supported me in anything I wanted to do, but naturally they were more cautious when it came to sports. All I wanted was just to be like the other kids though. Therefore I always tried harder and never really accepted help. It took me a long time to learn that it’s ok to get help or take breaks.

Although I was doing very well during my teenage years and there weren’t any complications growing up, I needed another open heart surgery in 2015, when I was 28. This was to ensure my heart could continue doing such great work it had been doing all along. During an open heart surgery an external tunnel made from Gore-Tex was created to manage the blood flow. During this procedure I was also fitted with a pacemaker to support the heart.

Undergoing such risky operation when you are an adult makes you reflect. I started appreciating my time even more and try to use all my free time to explore, see friends and also connect with fellow CHD patients. I have never let my congenital heart defect stop me from creating a career, do sports, travel or have a relationship. It is important to me to advocate for an active life, to show patients, carers, supporters, family members an so on, that life is still fun and doesn’t have to be all worry.


I started getting more involved in the CHD community and love meeting fellow patients. Moreover I have launched a blog, Optimistic Heart, where I am advocating for an active life despite a severe cardiac condition. Facing challenging topics as pregnancy, it feels great to hear other stories, share experiences and knowing I’m not alone with my condition.

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Jessica Goddard

Living with long QT syndrome

Jessica Jane Goddard was born on the 27th July 2007. She was 3 years old when in May 2010 we received a phone call that would change her life forever…

My name is Rebekah Goddard and I am Jessica’s mother. I was diagnosed with long QT syndrome in July 2001 at the age of twenty-five, after a series of massive seizures that starting occurring just after my eighteenth birthday. It was my father who effectively saved my life on the day of that first episode. When he found me, I wasn’t breathing and didn’t have a pulse. It was his quick actions and medical training from his RAF days that effectively saved my life. To this day my dad struggles to discuss what he remembers about the day he found me.

As a mother, I cannot even begin to imagine what must have gone through my parents’ minds finding their daughter in such a way. Then later, discovering that the first initial seizure with long QT syndrome has such low survival rates… No parents should have to worry about burying their own child. This is now a worry that I have to deal with on a daily basis with my own child.

I married my husband Ian, two months after getting my own diagnosis of long QT, and having a pacemaker fitted. A couple of years later, we discussed the possibility of having children, and that’s when I hit a stumbling block. At the time, there seemed to be very little information about pregnancy and birth, as well as the possible effects of my condition on my unborn child. So after gathering information to the best of our abilities and a lot of discussion, we decided that with a 50/50 chance of me passing on my condition, we should go ahead and have children.

Our first child, Grace Elizabeth Goddard was born by scheduled cesarean section at Yeovil District Hospital on 27th August 2004.

To say the operating theatre was packed would be a massive understatement! It seems the world and his wife had appeared out of the woodwork to witness Grace’s birth. It was reassuring that so many people were there to help if required. Paediatric nurses, cardiologists, anaesthetists, medical students…

Ten minutes after her birth she experienced her very first ECG!

Rebekah with Grace and Jessica

Aftercare was quickly arranged by the hospital for out-patients appointments to monitor Grace as she grew.

So far, so good.

Two years and eleven months later, the whole process was repeated for Grace’s younger sister, Jessica.

When Jessica was five months old, both Jess, Grace and myself had bloods taken for genetic testing, which we were told could take quite some time. Yet the idea of finally knowing one way or another would mean that we could accept whatever the outcome, deal with it, and finally live our lives to the fullest.

As my mum always tells me, “fore-warned is fore-armed.”

It really did take a long time for the test results.

But now we know.

I took the call from the geneticist’s office completely out of the blue, on a Thursday afternoon. I remember it vividly.

I was asked if I wanted to wait to get the results until my next appointment at the hospital, however, I knew we had waited long enough.

It was funny, as when I was asked what my thoughts on what the test results would be, I instantly said, ‘one has it, one hasn’t.’ The lady was shocked to say the least. I knew then that it was Jessica that had it and I told her as much. She was utterly dumbfounded. I don’t know how I knew, I just did… Mother’s intuition?

I put the phone down and sat for what felt like an eternity, but all too soon it hit me. I sobbed… A lot.

I felt relief for Grace, knowing she was free of it all, but mostly I felt guilt. Knowing it was because of me that Jess now had a difficult journey ahead of her. Not knowing where we go from here.

It turns out not only were the genetic tests positive, she has now had three or four ‘dodgy’ ECGs, showing long QT.

After spending the night in hospital on a telemetry set for monitoring her heart whilst on medication, she is now taking 13mg of propranolol twice a day; easier said than done with a three year old…

So here we are today.

She at least she has some protection now, although whether she will require a pacemaker later on down the line is still under discussion.

She also has something that I never did. Someone who truly understands… Right by her side, every step of the way. No matter how uncertain she will be feeling at times, I will always be there for her. I can hand on heart say that I know how she is feeling. Been there. Done that. Got the t-shirt!

Her story is ongoing, as is her life. But one thing we are certain of is we are not going to wrap her up in cotton wool. Life is to be lived, and I want to her to experience it to the fullest.

Rebekah Goddard

Living with long QT syndrome

Even at the age of nine the signs were there, but no one realised what they meant. I recall going home from school near to tears as I had, had a ‘panic attack’ in the school assembly hall…. yet again. My heart pounded and I felt sick as well as cold sweats and on top of that my head was spinning and it was all I could do to stop myself from collapsing. The whole school was watching and imagine just how embarrassing it would be if I fainted in front of them all. The fifteen minutes between then and break time seemed to be an eternity, until I could take it no more. It got to the point where I begged to be taken to the doctors. But all he said was count to ten and breathe into a paper bag. I resorted to asking the teachers to let me stand on the end of the row so I wasn’t in amongst everyone. I felt safer there, despite the fact I knew they all thought I was attention seeking. Being on the end of the row eased my panic a little, but the attacks still haunted me and not always during assemblies.

At thirteen I went to the upper school where the attacks continued, but I grew so used to them that they became a normality. During my A-levels I developed a passion for photography, which I studied in every minute of my spare time. I eventually sourced some equipment and set up my own dark room in my bedroom.

I finished developing late one night and put the chemicals back into their screw-top containers, washed out the trays in the bath and clambered into bed. It wasn’t long before I drifted off into a deep sleep. The alarm went off and I got out of bed, then everything went hazy. People were talking about me, but I wasn’t there and what was that loud whirring noise. My head was pounding like someone had clubbed me with a baseball bat. I opened my eyes, and everything was blurry without my glasses. Where was I? Why wasn’t I in my own bed? Where was my mum? I wanted my mum.

My mum appeared and when I asked her what I was doing here, she had no answers. Had I had an accident, or been in a car crash? Why couldn’t she tell me what I was doing in hospital? The nurses were none the wiser either.

My parents were used to me being noisy in the mornings, but for some reason on that particular morning a loud bang had made my dad paranoid and caused him to get up to check what I was up to. After no answer to his calls he opened the bathroom door and found me in a heap on the floor. He dragged me onto the landing. I had no pulse and I wasn’t breathing. It was then that my dad saved my life. He had been part of a mountain rescue team back in the fifties when he was in the RAF, and everything he had learnt came flooding back. He gave me mouth-to-mouth and called for my mum to dial 999. She couldn’t even remember where we lived when asked by the operator!

By 11.30am the doctors had completed a series of blood and urine tests which had shown no abnormalities, and so decided, to the disgust of my parents, to let me go home. They put my ‘event’ down to inhalation of photographic chemicals and an adverse reaction. As we were leaving the hospital my dad suffered angina pain, but fighting off the nurses he announced that he was taking his daughter home! What a cool dad!

Eight years on and I had spent the night at a friend’s house. The alarm had gone off and once again everything went hazy… I woke up face down on the floor, then I realised I had wet myself and all over my friend’s carpet. That’s all I could think about until I tried to get up, but just collapsed. My body felt like a dead weight. I dragged myself across the floor and pulled myself up the door before collapsing onto the landing. My friend heard the bang and ran up stairs to find me sobbing and desperately trying to talk, but I couldn’t utter a word, my speech was very, very slurred.

They took me into a different hospital this time, where after being kept in for a week they concluded that I had epilepsy and that it had only just manifested itself. They could not give a proper diagnosis unless I had a secondary seizure. They didn’t think that the event eight years previously and this event were related, but I had my suspicions. The worst thing of all was that they took away my driving licence. I became quite depressed about this, where I live, you can’t do much without a car.

Eight months on and the same thing happened. I woke up in hospital, was violently ill before I passed out and woke up the next day on an upstairs ward. My husband had found me having a massive seizure in bed just two minutes before he was about to leave for work. What if he hadn’t found me and he had left on time, instead of being late like he was? It doesn’t bear thinking about. That seizure lasted an hour and a half before they managed to get me off to hospital. One of the ambulance men remembered me from eight years previous (he remembered the massive hole I had kicked in his door!). He said he had never seen anyone else suffer a seizure for so long, and that’s why he had remembered me.

I started the epilepsy tablets soon after I woke on the ward. I then settled down in my bed to watch the tennis. All of a sudden my heart started to pound so hard I thought I would bounce off the bed. A middle school panic attack only a hundred times worse. I managed to press the buzzer before I passed out. I woke up in a side room and because of that I knew it was serious. I was astounded when they announced that I had a heart problem and that I had to be rushed down to x-ray for a temporary pacing wire to be placed into my heart. They did an ECHO of my heart and then wheeled me down. I was conscious throughout the procedure. Had I not been so shocked I would have been scared stupid, but I found myself becoming intrigued by the whole thing. At the end of it I came out with a large box attached to my arm. My pacing box. I spent the next two weeks on the cardiac care unit surrounded by grannies and middle-aged men with angina and heart problems. I should have had an award for the longest stay on the ward. They monitored me night and day and even tried turning the pacing box down on the odd occasion, but that ended in disaster as I kept collapsing on them. They put a twenty-four hour tape on me and took a reading of my heart and the doctor concluded that I was in need of a permanent pacing box of my own. That Thursday was pacing day in the hospital, and if I was good, I could go home on Friday evening. My heart was beating on it’s own at between 30 – 35 beats per minute as opposed to 60 plus beats.

Nearly a year on and after a little tweaking here and there that pacing box has become my best friend. I can still feel it thumping me now and again and I thought I would never get used to it, but I wouldn’t ever consider not having it. The lump where it lies is annoying still but it’s great for freaking people out! And I tell you what though; it’s a good conversation starter!

Best of all, I made my wedding day, despite everything. I couldn’t understand why so many people cried so much. I guess it hit them more than me that I shouldn’t have made it that far. I never saw my dad cry in my whole life, until he cried openly in front of 100 people. I couldn’t have made it as far as I have without him.

Antony Eames

Tony Eames wrote his story to be included in the myheart booklet which was launched in November, 2013.

Tony

I had my first episode of fainting at 4 years old. From then on I passed out regularly. Sometimes I passed out several times a day. During this time I was not allowed to do any school sport or go out in the playground.

I was never invited to other children’s parties as parents were so concerned that I might pass out. I even had to be escorted to and from school and around the school so that I was never alone in case I fainted.

These attacks continued on a very regular basis until it was finally suggested that I had an ECG and was diagnosed with long QT syndrome, a rare heart condition that can cause sudden death in the young, at the age of 12.

For eight years my family doctor had treated my fainting attacks as epilepsy and panic attacks. It was suggested that I be sent to a psychiatric institution, something my parents refused to allow. No-one had tested my heart and all the time I was at risk of a sudden fatal attack. I don’t understand why it took so long for someone to think it might be a cardiac problem and not mental at all.

After my diagnosis I was put on medication to regulate my heart rhythm. At the age of 18, when in my final year of A levels, I became ill again and required a pacemaker implant to back up my medication. My family and I were devastated to be told I needed an implant as I was now enjoying my teenage years after a traumatic childhood.

Soon after the implant I left the security of home for University life in Newcastle. However I decided from the start to be open to my new friends about my heart condition and pacemaker. This gave me confidence, which was seriously lacking during my childhood.

The implant has enabled me to do far more strenuous exercise. Table tennis, jogging and visits to the gym are regular activities. It is fantastic to be free to participate in so many things that for so long I could not even think about trying. Last year I tested my own confidence and achieved a major personal goal by abseiling down from the Tyne Bridge for charity. This really did test my heart and my parent’s nerves!

Through CRY, my story may help further publicise awareness to the health professions and the public of why young children may be dying suddenly and the simple tests that are available. After hundreds of fainting episodes, a pacemaker fitted and taking daily medication I regard myself as one of the lucky ones and intend to live life to the full.

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Jack Wright

Living with hypertrophic cardiomyopathy

Jack, our six year old son – usually referred to as Jack Wright – left for school as usual on the morning of Tuesday 20th June 2006. He was arguing with his eleven year old sister Abigail and Mum Tracey on the way out of the front door, with his hair sticking up despite attempts to calm it with water before leaving. He even noticed the first rose on a bush at the front of the house and commented how beautiful it was, before heading off to the car, game boy in hand. Life couldn’t have felt more normal.

That morning he’d got up, had his breakfast and came upstairs to get ready for school munching a piece of chocolate he had found, which his Mum had left on the arm of the sofa the night before. This I think had started the argument with Abigail, as there was only one piece and Jack had eaten it without a thought of sharing – typical six year old boy!

I was working at home that day. The Sunday before, I had completed the British Heart Foundation London to Brighton Charity Cycle Ride and thought it appropriate for my body to have a rest for a few days after. My being at home was to be a blessing with all that followed.

At 11:30am I got a call from Tracey who was very upset, saying that she had received a call from Hampton Lucy Primary School and that Jack was being taken to hospital in an air ambulance. At this time there were no more details available – all the school had told her was that Jack had collapsed and that they were taking him to Warwick Accident and Emergency. This was later changed to Walsgrave, Coventry.

Tracey had been working in Leamington Spa that morning. She had gone straight to Warwick only to be told that the plans had changed and that it had been decided that Jack would be taken to Coventry – she made her way there on her own. Looking back I don’t know how she managed it, as she was extremely distressed.

We have visited A&E with Abigail numerous times, so at first I was relatively calm and thought that the school were being over protective in having Jack air lifted to hospital. I expected him to have broken something falling off the play area, as he collapsed at 11:14am – the last minute of school break time. I locked our house and left keys with our neighbours so they could let our elderly golden retriever out – explaining what was happening, still fairly calm at this time.

With the news that Jack was still at the school I decided to try to see him before they left for the hospital. From our home in Kineton to Coventry, I was going to virtually pass the school door and thought seeing him would both reassure Jack and ease my concern. On arrival at the school, I ran to the rear of the buildings where the air ambulance was parked on the sports field. One of school assistants showed me where to go – she was crying. Only when I saw the helicopter did the reality and seriousness of the situation hit me.

The crew were fabulous, encouraging me to talk to Jack and let him know I was there. Jack lay motionless, very pale with a grey tinge to his skin. He looked so small, so frail and most importantly to me he didn’t show any sign of moving or responding to my voice. It was clear he was very ill and my thoughts turned to his need to be in hospital quickly. I asked that they go as quickly as possible to Walsgrave and that I would meet him there. As the helicopter took off, I was on the phone to Tracey explaining that I had seen him and contacted Tracey’s parents, as it was obvious Tracey was going to need their support.

The police took me to Coventry. The prospect of driving after the shock must have been apparent and their kindness was much appreciated. For the first time, I got an understanding of how slow people react to the sound of a siren – all the way, all I could think of was “get out of the way!”

Tracey was waiting for Jack at the Walsgrave. She commented on how scruffy he looked as he emerged from the ambulance – his shirt grubby and too small (last clean one in the drawer that day), trousers a little too long and shoes needing a good clean, as did his finger nails. Its funny the things you notice at a time like that, but it made her feel pleased that he had obviously had a chance to play and have some fun. We were later told that he had been having a good time and was running around the playground with his friends, when he just stopped and put his hands against a wall for support before collapsing – falling to the floor, right in front of his best friend. Some children went for help, as Jack “would not wake up” and from that point started the amazing effort to bring him back to us.

By the time I arrived at the hospital Jack was surrounded by medical staff. He was being manually ventilated and at one point I counted 22 people attending him. At this stage nobody knew why he had collapsed so everyone was involved in the diagnosis.

After a chest x-ray, it became apparent that Jack’s heart was enlarged and discussions ensued about what should happen next. Time seemed to stand still but when I looked at my watch hours had passed seemingly unnoticed. It is strange, but we have come to realise, with great surprise, how true this is in hospitals when you would expect time to drag!

The decision was taken to contact Glenfield Hospital, Leicester, as they have extensive experience with children with heart problems. A retrieval team was requested and preparations were made to transfer Jack.

Upon arrival, the retrieval team busied themselves examining Jack. Pete Berry introduced himself, to Tracey and I, as the Team Intensivist and said he would like to talk to us somewhere quieter. A room was provided and Pete explained what had happened to Jack. His heart had become enlarged due to a condition called hypertrophic obstructive cardioyomyopathy or as it is knows in medical circles HOCM. The walls of the heart become too thick, affecting the electrical conductivity required to allow the heart to pump properly. The result was an arrhythmia or irregular beat culminating in a heart attack. Pete praised the efforts of the people at Jack’s school, stating that most children do not survive such an attack and added that their swift actions in administering CPR, along with the fantastic response of the air ambulance had undoubtedly saved Jack’s life.

He went on to say that Jack was still very poorly and that his chances of survival were very poor and that we should prepare ourselves for the worst. Pete also warned us of a possible hypoxic brain injury due to Jack’s heart having stopped – this passed us by largely at this stage but was to play a much bigger part later in Jack’s condition.

All I remember of this in detail was Tracey saying “he can’t die”.

I signed his transfer papers after Pete warned us of all the risks attached to moving him – there was no choice, he needed the care at Glenfield and there was no option of him staying at Walsgrave.

The journey to Glenfield was very distressing, as Tracey and I contemplated the loss of our little boy. The same boy who only hours earlier had made us laugh and made us cross with his mischievous behaviour.

On arrival at the Glenfield we searched frantically looking for the paediatric intensive care unit (PICU). Pete and the team greeted us with reassuring smiles that all had gone well with the transfer and Jack was stable. Huge relief, several hours had passed and other than the ventilation, Jack was coping on his own with no further issues with his heart. The ventilator, we were told at the Walsgrave, was supporting his breathing rather than breathing for him to alleviate any further strain on his heart.

Pete wanted to talk to us again along with a cardiology consultant – we feared the worse naturally. A more thorough explanation of Jack’s condition this time with conversation about the likely cause – genetic or virus induced. Tracey, Abigail and I were to be screened immediately to rule out problems for us. Amazingly the consultant started talking about Jack’s future and that when Jack has children they would need to be screened as the condition was likely to be passed on. At this point Tracey commented her surprise and asked him to clarify that he was now saying that Jack had a future – only a few hours earlier we were looking at a life for our family that may not have included Jack! Now we were offered signs of hope. This was to be the beginning of the emotional roller coaster – highs and lows of proportions I cannot describe.

He spent eight days in intensive care, with 24 hour care from nurses dedicated to him, working 12 hour shifts (and how dedicated they were). They spent most of their time sat at the end of his bed monitoring him and the machines he was hooked up to; writing down, seemingly continuously, the details they gave as well as being bombarded with hundreds of questions from us and our family. They were great too in caring for and keeping us amused, entertaining our daughter and finding ingenious ways to hang the ever increasing number of cards that kept coming over and around his bed. They even put up with his mum sleeping in a chair at night by his bed, until one of them very kindly moved her to a little room with a fold out bed so at least they got her out from under their feet, whilst I tried to sleep in a room a short distance away.

He looked so lovely and peaceful except for all the wires and tubes surrounding him. He also looked so out of place – the other patients he had for company were very poorly babies. We wondered whether we were luckier – we’d had Jack in our lives for over six years, whereas for these other parents it was hours, days or months. We had been privileged to watch him grow and turn into such an amazing little person – or was that worse? We were not sure.

The day after his cardiac arrest, Tracey, Abigail and I were screened for this genetic defect and given the all clear. We also met with the surgeon who could fit an implantable cardioverter defibrillator (ICD) and pacemaker on the next day to monitor and control Jack’s heart rate. If his heart went into a life threatening irregular arrhythmia again and failed to function, the ICD would shock it back into sync again. However, this did not happen as the surgeon was not available and provisions would be made for Monday.

We were also told that they would be weaning Jack off the medication that was keeping him sedated and paralysed to see how he would react. We were told we were looking for him to wake up and pull at the tubes up his nose. We waited for this all day, still reading Horrid Henry stories, audio books, songs, singing etc, just looking for any sign. It came just before eight that evening. I had left the ward only minutes before, leaving Tracey with one of our friends. Jack was listening to songs on an iPod, only seconds into Barry White’s “My First, My Last, My Everything” – a song sung many times in the car (Tracey’s choice not mine) – it came. Not the ‘appropriate response’ we had wanted, but the sort we didn’t want. Jack’s eyes disappeared into the top of his head, his back arched so severely that it lifted him out of bed, doctors and nurses were there in seconds and once again he was sedated. A CT scan was arranged and within twenty minutes he was being taken down to assess what damage there was to his brain. We waited for what seemed to be an age to be told that they could not see any obvious signs but would need to do an EEG to find out if his seizure was epileptic, or a one off and a more detailed MRI that would give us a better idea of what we were dealing with. The EEG showed no signs of seizures which was good news. We just had to get through the weekend.

We kept our vigil at his bedside, with numerous visitors, watching and listening to the endless bleeps and alarms of the monitors. The lows – Jack’s heart rate going sky high and very low, the monitor even flashed 0 one morning, it’s alarm sounded very loudly and staff came from every where. One nurse (she was the nurse who had waited way past the end of her shift for the CT scan results, sometimes even hardened staff can be affected) even flung herself onto his bed ready to give CPR. We just watched dumbfounded, then Jack’s heart kicked back in seconds later and back to normal and probably not for the first time.

Jack was transferred from the security of PICU to a room on a general ward, but with no dedicated nurse, just a very paranoid and over anxious Mum. They were still lovely and just as kind, it was just hard to get used to. It was here we were given the most unwelcome and grave news, the results of Jack’s MRI were not just localised to one area of his brain as originally thought, but we were told it was global and that once again his outlook was very poor indeed and we should prepare ourselves once again. We’ve been there before and he got through it, we just hoped he would do it again. We were told we would need to be transferred to the Leicester Royal Infirmary (LRI) where they have a Neurological Rehabilitation ward. That was a whole different ball game.

It was actually a ward with children and babies with anything from epilepsy, asthma, reflux, viruses and all manner of things. Again we met more dedicated wonderful staff, with tales of hope of a couple of other children who had made recoveries of varying degrees. We knew that Jack was not a run of the mill case for them and here shortfalls, inefficiencies and incompetences were all too familiar and were highlighted. We know that the NHS has budget constraints and our own private health cover was not going to be of any use as they don’t have paediatric rehabilitation facilities. The NHS is adequate as far as they were concerned, but had he been 18 they may have been of some use. How wrong they were. Despite best efforts of therapy staff, Jack was having major problems, primarily due to not being able to position him and support his body that had no control over itself – except for the stiffness or ‘tone’ as it is called, that distorted his body daily, leaving problems that can no longer be put right, no matter how many pillows, rolled up sheets and towels. We even used his teddies to jam by the side of his head for support and to put in his hands to avoid his nails digging into the skin and to try to relieve the fists that his hands were permanently making as they had nothing else.

The most frustrating thing of all was that we did not even have a wheel chair to move him around, just to be able to get him off his bed and sitting up (7 months on, Jack still can’t sit up at 90 degrees, despite hours of physio). The summer of 2006 was one of the hottest we’ve had for a long time and I think for Jack’s 10 weeks stay in hospital we were able to take him out for short times for the last month of his stay in a ‘day chair’, that took 3 people to steer. It was not designed for outside use – the nurses and occupational therapy (OT) staff had to turn a blind eye as it was not really suitable, but we had nothing else and I don’t think they wanted to question an already angry mother.

During Jack’s last 2 weeks in Leicester, quite by chance after nagging, chasing and then quite by mistake through a conversation with a therapist at the Children’s Trust in Tadworth, Tracey got the number of the one person who has probably gone out of his way, bucked and played the system, to get an old unused chair that met Jack’s immediate need to at last be sat up at last not slumped and be able to go outside easily especially by his sister. Incidentally, he worked for the very department that Tracey had asked the OT team to get in touch with almost two months ago to sort a chair in our own area of Warwickshire!!! Some system.

One thing that became apparent, early in July, was that Jack was not getting access to the right facilities that they seem to have in Birmingham and Oxford. We were even given the possibility of looking at moving Jack to another hospital where facilities were better and they were used to seeing lots of children like Jack. We could not even get Jack’s consultant’s stand-in to speak to one of the consultants there, despite his secretary freeing up time, they just kept telling us that he was in the best possible place. Every week something would happen or not happen that would remind us that this was not the case and again Tracey would hound the consultant and his registrar. They did finally concede that things should have been better and they should have some basic equipment and that this would be rectified, too late for Jack but hopefully someone else’s child would benefit.

The only glimmer on our horizon, was the ray of hope our consultant had told us of on our first day at the LRI – The Children’s Trust in Tadworth, Surrey, where they have a rehabilitation centre for children with acquired brain injuries (ABI). This was our goal and we would at least try to move heaven and earth to get him there. Again we came up against the bureaucratic red tape of the NHS and the frustration of inadequacies and the inefficiencies of things not being done because someone is on holiday for a couple of weeks, whilst our little boy was in great discomfort and distress

The NHS is an amazing organisation – when he needed it to save his life it was un-faulting, everything possible was done and seemingly no expense spared. It has its faults too – the frustration of not having simple basic equipment to aid Jack’s recuperation, which in the end has caused other complications, short sighted and unnecessarily as we kept pointing out, but that is another story in itself.

Jack did eventually get to the Children’s Trust, in record time according to his consultant. I am convinced it was just to get rid of his Mum and her constant nagging and at the time of writing that is where he is today, making the slow but good progress that we could only have hoped for. He has started coming home at weekends and spent over a week at home for Christmas. We are getting there, Tracey says it’s like having a new born and just getting the household up and ready takes all morning.

We have met so many amazing people here, not just the staff but the children too and their families. It has become our second home and we have realised something that we never thought we would say about our situation, we are lucky – ours is not the saddest tale on the ward but one of hope and we are so lucky that we still have Jack.

It is without doubt that we owe so much to the love and dedication and abilities of the staff and a parent at his school (an ex-nurse who had turned up early to collect her own child!), the Air Ambulance crew who were available and able to reach him so quickly and do what was necessary (we were amazed to find out that they are a charity and receive no support from the government) and the hundreds of skilled medical and rehabilitation staff that have met and cared for our little beautiful boy.

Now it is up to Jack to prove the professionals wrong, he always was a stubborn little chap so hopefully this will stand him in good stead. No matter how long is takes, we have time, we also have the love and support of our family and friends, but best of all we still have Jack and his wonderful big sister Abigail, who has been an amazing tower or strength and help to us. She has kept us going and reminded us that we still needed to function as a family. Some days are better than others, some days it’s hard to get out of bed, but now Jack gives us smiles and with them lots of hope of what could still happen.

Ian Wright

Andy Perry

Living with hypertrophic cardiomyopathy

My name is Andy. I’m now 38 and at the tender age of 7 after dental treatment, I was ill and taken to the local hospital. After several tests they diagnosed me with a heart murmur.

Several years later, attending senior school aged 11, I was taken ill doing sports. My mother went along with me to my GP who sent me to hospital via ambulance. I was admitted for tests – I had an ECG (electrocardiograph) and chest X-rays, and they noticed a vast difference in the size of my heart compared to when I was 7.

I was referred to a paediatric cardiologist whom performed a cardio catheter and diagnosed me with hypertrophic obstructive cardiomyopathy (HCM). At that time very little was known about this condition. My mum was called into the side room with the doctor – she was alone as dad was at work – and she was told that I wouldn’t see my 20th birthday.

I lived with the condition, but you can imagine that at eleven years old I wanted to do normal eleven-year-old things – i.e. running, playing with mates, etc – but Mum didn’t let me. I went for regular treatment and check ups and took tablets every day. Mum basically wrapped me up in cotton wool and made me tread on egg shells.

There were numerous times I was admitted to hospital for the next 15 years. During these years not much could be done, as little was known about the condition. Then, aged 26, I was very poorly with atrial fibrillation and had to be cardioverted 5 times in one year. I was told that I had to have an ablation of my atrioventricular node and be paced – which helped me a lot.

I still had frequent hospital stays and check ups. At 30, I met my now wife and we have 3 children. I now know why mum treated me with such close care and love, as my own children are now under close medical supervision. As yet my children are clear.

If it wasn’t for Mum I would certainly have died at a young age. She was so strong through this and now my wonderful wife, Becky is my guardian angel, as Mum is now disabled – but still there for me and my wife. Mum has remarried to a wonderful man who looks after her – and he has done more than his share of caring for me at times of illness before I met my wife.

On December 3rd 2007, I was admitted to hospital to get my pacemaker changed. This procedure was successful.

Pacemakers

Pacemakers electrically stimulate your heart to make it contract and produce a heartbeat. They differ from implantable cardioverter defibrillators (ICD) in that they do not have the ability to give your heart an electric shock. Pacemakers can be helpful if you have problems with the electrical activity in your heart which causes it to beat too slowly. Pacemakers can either work only when they are needed (‘on-demand’), or they can send out electrical impulses all of the time. However they are usually programmed to start producing heart beats only if needed, when your heart rate drops below a certain rate.

Most pacemakers are smaller than a matchbox. Like ICDs, pacemakers are implanted under the skin below the collar bone, usually on the left hand side. They can have one, two or three leads that go to the heart. When you have your pacemaker fitted, you will have a local anaesthetic around the region of your collar bone so you will not feel any pain. You may also be sedated if you wish, which will make you feel very relaxed and sleepy and may mean that after the procedure you remember very little or nothing about it. However giving sedation will also mean that you will need someone to stay with you overnight if you go home the same day.

Some people who have pacemakers fitted stay the night in hospital afterwards. You will not be allowed to drive for at least one week after your pacemaker is fitted. If you drive, it is very important that you inform the DVLA (Driver and Vehicle Licensing Agency) that you have a pacemaker (which it is legally your responsibility to do). You will also have to be very careful with movement of your arm and upper body on the side the pacemaker is fitted for the first 2 weeks or so, to stop the box and/or the leads moving out of position whilst they are still settling in.

You pacemaker will have a code which describes what it does. Most pacemakers have three letters, but some may have up to five:

Letter 1: indicates the chamber of the heart that is paced(A=atria, V=ventricles, D=dual-chamber)

Letter 2: indicates the chamber that is sensed by the pacemaker (A=atria, V=ventricles, D=dual-chamber, 0 = none).

Letter 3: indicates the response to a sensed event (T = triggered, I = inhibited, D = dual – T and I, R =reverse).

Letter 4: indicates an activity sensor. This detects bodily movement, temperature and other parameters, and increases the pacing rate accordingly – for example for those who need the pacemaker all the time, when they exercise.

Letter 5: an anti-tachycardia feature – this is really only relevant if you have an ICD or biventricular ICD.

If your pacemaker has one lead, it will be called a single chamber pacemaker. If your pacemaker has two leads, it will be called a dual chamber pacemaker. If it has three leads, it will be called a biventricular pacemaker. Sometimes, biventricular pacemakers can be combined with ICDS – ‘biventricular ICDs.’

After your pacemaker is fitted, you should avoid sport and strenuous activity for 3 to 4 weeks. If after this time you play contact sports, it is important to avoid damaging the pacemaker.

You should always tell any doctor or dentist treating you that you have a pacemaker. Before you leave hospital, you will usually be given a card that indicates the type of pacemaker you have fitted, which you should carry around with you everywhere (e.g. somewhere visible in your wallet). If you are not given one, ask for it!

You should use your mobile phone on the opposite side of the body from your pacemaker. Do not put your phone in a pocket near the pacemaker, as it may interfere with it.

Antitheft systems in shops and airport security equipment may sometimes cause problems, and there is a chance that the pacemaker may make the alarms go off. There are some situations at work (for example if your job involves working with or near arc welding or if you work with powerful magnets) that might interfere with your pacemaker, and in some cases you will not be allowed to operate certain equipment (mainly arc welding / powerful magnet related devices) at all after your pacemaker is fitted.

Remember – it is important that you always carry your pacemaker card with you to let people know that you have a pacemaker fitted! Please click here more information on alerting people to your diagnosis in an emergency.

Dilated cardiomyopathy (DCM)

In dilated cardiomyopathy (DCM) the main pumping chambers of the heart are dilated and contract poorly. This results in a reduced volume of blood (low output) pumped around the body which fails to meet the body’s demand and features of what is commonly known as heart failure. There is a build up of fluid in the lungs and under the skin, which manifests as breathlessness and swelling of the legs and abdomen, respectively.

We are able to identify a specific cause for dilated cardiomyopathy in about 50% of patients. In the other 50%, however, the cause remains uncertain. The commonest causes of DCM in western societies includes coronary artery disease (narrowed coronary arteries) which may lead to reduced blood flow to the heart muscle and a heart attack resulting in ‘death’ of part of the muscle and a weak heart. Other common causes include longstanding high blood pressure, excessive alcohol intake and heart valve disease. Less common causes include viral infections, autoimmune diseases i.e. the body’s own defences mistakenly attack the heart muscle cells resulting in damage to the heart muscle, deficiency of several vitamins and other rare conditions.

In dilated cardiomyopathy, antibodies against the heart are found in approximately 30% of patients and in a similar proportion of the asymptomatic relatives. This and other evidence suggests that an autoimmune component may play an important part in the development and progression of dilated cardiomyopathy. The significance of the cardiac antibody in individuals without symptoms is under study.

CRY Consultant Cardiologist Professor Sanjay Sharma talks about dilated cardiomyopathy (DCM) below. This video was published in 2011 – please note that life expectancy following a diagnosis of DCM is now (July 2017) much better than in 2011.

Pregnancy

There is a form of dilated cardiomyopathy which develops during late pregnancy and in the period shortly following childbirth. The cause is uncertain but it is believed that the additional demand of pregnancy on the heart may be triggering factor in the development of the condition.

Genetics

Recently it has become apparent that dilated cardiomyopathy is inherited in at least 25% of cases. All first-degree relatives of patients diagnosed with DCM of unknown cause (idiopathic) should be screened to exclude the condition. Evaluation of the family has potential to clarify the genetic contribution to the development of the condition within individual families.

What are the symptoms?

Symptoms depend on the stage and evolution of the condition.

  • Shortness of breath– This is a common symptom which becomes worse with exertion.  It is caused by the build-up of fluid and elevated pressure in the lungs. When severe, there may be marked breathlessness at rest or even when the patient lies in bed. Patients may feel more comfortable sitting-up in bed by adding extra pillows or may experience sudden bouts of breathlessness which wake them up at night.
  • Lack of energy – If the heart is not pumping well and the body is not getting enough blood the muscles are unable to contract normally and easily become tired.
  • Ankle swelling– When the right side of the heart fails to expel the blood it receives, the fluid builds up in the body tissues. This is called oedema and usually presents initially with swelling of the ankles which can then extend up to the thighs, back and abdomen.
  • Chest pain– This may occur at rest or during exercise. Though the cause of the pain is usually not clear, it is important to exclude significant coronary artery disease i.e. angina.
  • Irregular heart rhythm– Irregular heart rhythms are a common complication. The heart can either beat irregularly, too rapidly (tachycardia) or too slowly (bradycardia). Such arrhythmias are often asoociated with an uncomfortable awareness of the heart beat (palpitations) and/or accompanied by dizziness and fainting.

How is it diagnosed?

Your doctor will usually start by asking you some questions and examining you. An electrocardiogram (ECG) should be performed followed by an echocardiogram. The echocardiogram provides images of the heart with measurements of the size of the chambers as well as determination of how well they contract. It may also provide evidence of the cause of dilated cardiomyopathy. Exercise testing, either on a treadmill or a bicycle, should be performed to stress the heart. This test is particularly useful as symptoms and abnormal heart rhythms may not be obvious at rest and only become apparent during exertion. Monitoring the heart rhythm with a continuous tape recording is also important to detect arrhythmias which may not be symptomatic. It might be necessary for you to have further investigations.

Treatment and advice

Treatment aims to improve the symptoms of heart failure, prevent complications, particularly those arising from the development of arrhythmias, improve the heart function and prolong life.

Lifestyle modification plays a pivotal role to DCM treatment. Your doctor may discuss the following things with you.

Reducing all cardiovascular risk factors:

Stop smoking with the help of smoking cessation clinics.
To improve dietary habits in order to lose weight, reduce the cholesterol and the salt in the diet. An expert dietician’s review can be very helpful.
Good control of the blood sugar if the patients is a diabetic.
To monitor and aggressively treat high blood pressure.
Regular exercise. The NHS provides exercise clinics run by expert nurses.
Limiting alcohol intake to the minimum possible. Current evidence suggest that no more than a small glass, preferably of red wine, should be consumed in a day.
Limiting fluid intake according to the physicians/specialist nurse advice.
Daily weighings using a reliable scale. Sudden, excessive increase in weight may be a sign of fluid built-up and may predate clinical signs by several days, acting as a warning sign.

Watch CRY’s myheart cardiologist, Dr Michael Papadakis talk about things to avoid with cardiomyopathy below.

The mainstay of heart failure treatment is drugs. It includes water tablets (diuretics) to get rid of excess fluid, angiotensin converting enzyme inhibitors (ACE-i) and beta-blockers. Other drugs may be necessary should symptoms persist on first-line treatment. Please note that ACE-i and beta-blockers have an abundance of evidence supporting their use in DCM and every patient should be on them unless contraindicated or significant side-effects arise.

When medical treatment fails device therapy may be necessary. This includes the insertion of specialised pacemakers under the skin that help the heart beat more efficiently. A small number of patients with dilated cardiomyopathy who do not respond to the above treatments may be referred to a specialist centre for assessment of the potential for cardiac transplantation. Strict criteria apply to the selection of patients in order to assure a successful transplantation.

Read myheart member, Paul Cowling’s story of living with dilated cardiomyopathy here.

Hypertrophic cardiomyopathy (HCM)

Read personal stories from myheart members with hypertrophic cardiomyopathy here.

Hypertrophic cardiomyopathy (HCM) is a condition where the heart muscle becomes thickened.

Traditionally, the term HCM was used for disease caused by abnormalities in genes which make the proteins responsible for contraction of the heart (sarcomeric contractile proteins). More recently the definition of HCM has been broadened to include a number of other conditions that result in thickened heart muscle. It is a hereditary disease i.e. it is passed on from parents. In the majority of cases the condition is inherited from a defective gene of one of the parents in such a way, that if a parent has an abnormal gene then each child has a 50% chance of inheriting the disease.

It is a disease that can affect both men and women of any ethnic origin. The condition is present from conception and excessive growth of the muscle may begin before birth when the foetal heart is developing. In a healthy adult heart, the muscle fibres are arranged in an organised fashion and their thickness does not exceed 12mm. In the HCM heart, however, the muscle becomes excessively thick and the fibres are arranged haphazardly making the heart vulnerable to some dangerous heart rhythms (ventricular fibrillation or ventricular tachycardia). The heart muscle also may thicken in individuals who have high blood pressure or who participate in prolonged athletic training, but in HCM patients the muscle thickens without an obvious cause.

What are the symptoms?

Symptoms and severity can vary from person to person.  They may begin in infancy, childhood, middle or elderly life.  No particular symptom or complaint is unique to HCM sufferers.  Most patients never experience any symptoms, thus affected individuals are often diagnosed during ECG screening or family screening.

The most common symptoms of HCM are:

shortness of breath
chest pains (usually brought on by physical exertion)
palpitations (rapid, irregular heart beat)
light-headedness, blackouts.

If you suffer from any of these symptoms it does not mean that you necessarily have HCM but if you visit your GP, he or she may suggest that you undertake some tests or may refer you to a cardiologist (a heart specialist).

How is it diagnosed?

Diagnosis involves having an ECG and an ultrasound scan of the heart (echocardiogram). The great majority (up to 98%) of individuals with HCM have an abnormal ECG, alerting the physician to the possibility of underlying heart disease. Although the echocardiogram is the gold standard test in the diagnosis of this condition, occasionally the ECG may become abnormal long before the excessive thickening of the heart can be observed in the echocardiogram. In individuals with a diagnosis of HCM or high index of suspicion, further tests with an exercise treadmill test and a 24-Holter is required. In some cases further imaging of the heart may be necessary using a magnetic resonance imaging scan (MRI).

Genetic testing can identify carriers of the HCM gene. Unfortunately, this form of testing is limited at the moment, as 3 in every 10 people who are known to have HCM do not have mutations of the genes known to be associated with HCM. An additional problem is that many families who do have the mutations appear to have a specific change to the DNA code which is not found in other families (known as a ‘private’ mutation). This sometimes makes it difficult to decide whether a mutation is causing the disease or not. Things are further complicated because people with the same mutation can have effects of varying severity. However, when a well known HCM gene is identified, it can be used after the clinical evaluation to confirm the diagnosis or in the context of family screening

Treatment and advice

There is no cure at present for HCM. Treatment is aimed at preventing complications and improving symptoms. Treatment can be obtained through lifestyle modification advice, drugs, specialised pacemakers, or in some cases, surgery.

If your tests prove positive your specialist will advise you on lifestyle modifications. You will probably be advised not to participate in competitive sport and strenuous activities.

Watch CRY’s myheart cardiologist, Dr Michael Papadakis talk about things to avoid with cardiomyopathy below.

For many people the condition should not significantly interfere with their lifestyle and can be controlled by drugs. Drugs are given initially when a patient presents with symptoms. A variety of drugs are used in the treatment of HCM and the choice of treatment will vary from patient to patient. However, in patients with severe symptoms, who do not respond to medical treatment, surgery may be suggested. A surgical myomectomy, where muscle is removed, is usually successful in the relief of symptoms. The operation involves removing a portion of the thickened muscle, which relieves the obstruction.

There are other forms of treatment, which are occasionally recommended for people with HCM.

  • Electrical cardioversion– This is for sufferers of atrial fibrillation (irregular heart beat), which is quite common in HCM patients.  It is carried out under general anaesthetic and involves the patient being given a small electric shock to the chest which restores the normal heartbeat.
  • Pacemaker– In HCM sufferers the normal electric signal may fail, and if so a pacemaker can be fitted.  This is a small box containing a battery which is placed in the chest under the skin and ensures the heart receives the necessary electrical signals.
  • Implantable cardiac defibrillator (ICD) – In cases where a rapid heart beat is seen that could potentially cause cardiac arrest, and cannot be controlled by drugs, an ICD may be fitted. This is similar to a pacemaker where a box is implanted under the skin in the chest. The box has a fine wire which is attached to the heart to record and deliver electrical impulses in the presence of an abnormal heart rhythm.

What should you do if you are diagnosed with HCM?

If your tests prove positive your specialist will advise you on lifestyle modifications.  You will probably be advised not to participate in continuous strenuous activities e.g. competitive sports.  For many people the condition should not significantly interfere with their lifestyle and can be controlled by drugs.  It will be necessary for you to have at least annual check-ups.  However, the severity of the disease varies from person to person and even if you have been diagnosed with HCM you may not necessarily present any symptoms and can live a fairly normal life.  Since the disease runs in families, all first degree relatives of the affected patients have to be screened with ECG and an echocardiogram.

Progressive cardiac conduction defect (PCCD)

Progressive cardiac conduction defect (PCCD) is a rare condition. In people with PCCD, the heart’s electrical impulses are conducted very slowly and this results in the gradual development over time of heart block. (Heart block is a failure of the heart’s electrical impulse to conduct properly from the top chambers [the atria] to the bottom chambers [the ventricles]). The severity of the condition and its associated risk can vary. PCCD can cause arrhythmias – either because the heart’s rhythm is too sluggish (bradycardia and asystole), or because of rapid rhythm disturbances (tachycardia) arising from parts of the heart that have escaped normal regulation. In some people PCCD has been associated with sodium channel mutations that cause changes in channel behaviour similar to those found in people with Brugada syndrome.

What are the symptoms?

Dizziness and blackouts are the usual symptoms, cardiac arrest may also occur.

Are there any physical signs?

There are no physical signs usually except if there is heart block when the doctor may feel a slow pulse.

How is PCCD diagnosed?

The ECG abnormalities may be detected either on a standard ECG or with Holter monitoring. An electrophysiological study may also help the doctor make a diagnosis.  If a sodium channel mutation is identified in affected members of a family then it may also be found in other relatives.

Treatment and advice

If you have PCCD you will need to have a pacemaker fitted in order to stop dangerous bradycardia from occurring. You may also need to take antiarrhythmic drugs. Some people may need to have an implantable cardioverter defibrillator (ICD) fitted instead of a pacemaker. Medication alone does not help.