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At a young age I was already aware that my mother was different to other mothers. She was always tired, never played tag or football and when we went shopping she would often stop to look in shop windows. To me that was normal family life. When I got older my mother explained that she had a weak heart. Everything became tragically clear when my bother suddenly died. I was 13 and he 17. Autopsy showed that my brother had hypertrophic cardiomyopathy (HCM). My mother had the same condition. Whether there was not enough known about HCM or the cardiologist had missed something we didn’t know. My mother was left bitter for the rest of her life.
The death of my brother meant that all family members on my mothers’ side were genetically tested. This included my sister and me. My mother was from a large family of 7 brothers and sisters and 18 nieces and nephews. Everyone tested negative for HCM except me. I remember being very angry. Not at anyone in particular but at the whole world. I kept asking, “why me”. I was given medicine and life carried on. Apart from a great sadness at the loss of my brother Leon, nothing much changed. My mother did her thing and apart from the fact I wasn’t allowed to do sports I had no other restrictions. I was scared when I turned 17, but that year went by uneventfully.
A couple of years later when both my sister and I had left home my mother was admitted to hospital in the middle of the night with acute breathing difficulties. Her heart was enlarged and not pumping powerfully enough anymore. As a result she was put on the heart transplant register. There then followed a very nervous period ending 2 years later with my mother receiving a donor heart. Without trivialising how difficult the periods before and after the transplant were this was the start of a new episode in my mothers’ life. She could now do things she had never before been able to do such as cycling, dancing and going for long walks. My mother fully enjoyed her new life without HCM. She accepted all the inconveniences like hospital visits and the large amount of medicine she had to take every day without complaint.
During that period I began a steady relationship and dearly wanted to have children. The question was, would that be sensible? What was the chance of passing the HCM on? I was myself 30 and had not experienced any restrictions from my HCM except the morning pill I had to take. Also, the heart transplant my mother had had could not without doubt be linked to the HCM. Above all my mother had experienced a much harder life meaning her heart had had to work much harder. The cardiologist gave the green light and not long after I was pregnant. I had no problems during pregnancy and birth and at the end of 2000 Michel was born. He was examined by the paediatrician and no mal-formalities were found. This was a great relief. Two years later I was pregnant again. This time it went very wrong. In the fifth week of pregnancy I had a stroke (TIA). This had been caused by atrial fibrillation. I had never had trouble with atrial fibrillation before. I was given a couple of injections and anti- coagulant drugs and a couple of weeks later was admitted for cardio- version. My heart was electrically converted into sinus rhythm and I was discharged home. When I was about six months pregnant I again got atrial fibrillation. This time cardio-version didn’t help. Sander was born eight weeks early but more importantly healthy. After the birth I was given another cardio-version and this time it was successful.
For a time everything went well but unfortunately after a while my heart went into atrial fibrillation again. I noticed it immediately because the irregular heart rhythm made me feel so tired and I couldn’t walk up stairs without getting out of breath. To make a long story short, I have now had approximately 30 cardio- versions in 7 years. I now have to accept my life with atrial fibrillation. This all weighed heavily on me. It was not easy to cope with two small children to look after, to take care of the household chores and hold down a part time job. On top of that, the drugs I was taking (amiodarone) meant I couldn’t go out in the sun and that my thyroid starting working more slowly. I undertook various exploratory tests to see if a PV- ablation would be a feasible option. Unfortunately this was not the case. It was decided that a HIS- ablation and pacemaker implantation would be the most effective treatment. I would still have atrial fibrillation but my ventricles would maintain a normal rhythm using the pacemaker. The hope was that this would make me feel less tired. The doctors had little experience treating younger people this way. The EFO doctor advised me to get it done but my cardiologist advised against. I went home with enough information to think about.
More things happened during this period in my life. My mother died, 8 years after her heart transplant and Michel aged 4 and Sander aged 2 were screened for the first time by the paediatrician. My husband’s greatest fear was realised and Michel was diagnosed with HCM. Because my problems began at about that age we then started to be more concerned for the future. I had huge difficulties accepting everything and was constantly blaming myself, but when I thought about it logically; we had made the choice to have children before I had ever had any symptoms of HCM. There was at that time no reason not to get pregnant. I was again angry at the whole world.
After being diagnosed with HCM, Michel was allowed to go home and was given an appointment to be seen again 2 years later. He had not been prescribed any medicine and was not given any restrictions in what he was allowed to do. I couldn’t stop thinking about my brother and that he had suddenly died. It was decided that Michel would be prescribed a low dosage beta-blocker. Every two years we returned to the hospital for tests. Everything was fine and our youngest son was happily still free of HCM.
In 2010, I was still deciding whether I would go for the HIS- ablation. One morning I received a telephone call from school. Michel was 9 years old, he had been cycling to a museum with his class from school and, according to his teacher, had had an epileptic fit. She told me where it had happened and as it was close by so I raced there as quickly as I could. On the way I could hear the ambulance in the distance. I was at the scene before the paramedics and when I saw Michel lying on the ground I knew exactly what had happened. My brothers’ story repeating itself. When it happened to my brother it was not the case but these days 1/3 of the Dutch population has followed a basic life support course. Fortunately I was one of them. I started doing CPR until the paramedics took over. Michels’ heart started beating again but he was still unconscious. He was taken to the hospital near where we live but because there is no paediatric ICU there he was transferred to a larger hospital in Rotterdam. This was also where he went for his regular routine tests, so all his medical history was known there. On arrival at the paediatric ICU Michel was put on a ventilator and kept asleep. His body temperature was also lowered in an attempt to minimize brain damage. The beta-blockers he was taking were increased to four times the original dosage. Michel was not allowed to leave the hospital until he had had an ICD implanted.
After 2 days Michel was allowed to wake up. This didn’t happen quickly enough so an MRI scan was made. Unfortunately the scan showed that brain damage had occurred. Michel went into a delirium which lasted for three weeks. In that time we didn’t know whether Michel would be able to see, hear, talk or walk. Everything was so uncertain, I kept asking myself whether I had made the right decision to resuscitate Michel. One day I was in the shower at the Ronald McDonald house and was so angry that I stood punching the wall. I was so angry at the whole world again. Happily things improved and Michel started to regain some bodily function. Michel had an ICD implanted and after five weeks was allowed to go home. There then followed an intense period of revalidation and it became clear that the remaining physical effects of the oxygen deprivation that Michel had suffered would be minor. Unfortunately Michel has suffered some brain damage, his IQ has dropped from 100 to 65. He also has problems concentrating, multi- tasking, writing and controlling his emotions. Nevertheless Michel has found his feet again and adjusted well to his new way of life.
As there had now been two (one nearly) sudden deaths in our family I was advised I would need an ICD. I had already decided to have the HIS- ablation, the primary reason being that I could then stop taking the Amiodarone. I thought that even if I couldn’t physically do much, I could at least enjoy sitting in the sun again. Disappointingly the HIS- ablation didn’t help as much as I’d hoped although I did feel more relaxed. Before, when I had atrium fibrillation, sometimes my heart would beat 150 to 200 times a minute and I could feel my whole body pulsating.
We entered a more settled period and were getting on with normal life. In the summer of 2013 we got another shock when Michel had to be resuscitated again. His ICD had not worked. Later we were told that the ICD settings were not low enough to detect the cardiac arrhythmia so the ICD had not reacted. Thankfully bystanders knew what to do again. After three days in hospital Michel had not suffered any adverse effects and was discharged. The dosage beta-blockers that he was taking was again increased and his ICD was re-programmed. I was angry again, this time at the ICD, but it wasn’t the ICDs’ fault!
A couple of weeks later we went on holiday. For the first time in 3 years we could go to the sun as the Amiodarone was finally out of my system. With Michels’ medical dossier in hand we flew to Spain. On the second day of our holiday we had another medical emergency. This time it was my turn. I suddenly felt extremely ill and sat down on the ground. After a while I felt ok and we put it down to the heat. A couple of days later in our air conditioned apartment I suddenly felt unwell again. This time I did lose consciousness. When I came round, I immediately reached for the place where my ICD is implanted. My husband explained that he thought I had had a cardiac arrhythmia and my ICD had obviously done its job. The hospital in Spain didn’t have an ICD programmer that was needed to look into the ICD settings but after staying in hospital one night for observation I was allowed to continue my holiday. We were obviously still very nervous as we still didn’t know exactly what had made me lose consciousness.
On arriving home we made an appointment to have my ICD checked. What my husband had thought was correct. I had had two cardiac arrhythmias. The first had been over paced by the ICD and the second had been treated with a shock. Thanks to the ICD I was still alive to tell the tale. This thought gave me mixed feelings. On the one hand the ICD had worked but on the other hand I lost all trust in my body. I was worried that it would happen again, I didn’t dare to drive and I was scared to take the dog for a walk on my own in the forest. It is now six months later and I still worry but thankfully less. I do now drive again but still avoid going to isolated places. I started taking Amiodarone again and a continuous 48 hour ECG showed that my heart rhythm is now calmer and more regular and that makes me feel more relaxed. I have had to accept that I can’t go in the sun anymore.
We still worry a lot about Michel. His ICD has still not been proven to work. It is not that we want him to have an arrhythmia but it would be comforting to know that the ICD really works when needed. Michel has been given a lot of restrictions in what he can do. He is not allowed to do any excessive physical activity, which is extremely difficult for a 13 year old. He is often angry and screams that he has such a terrible life. We try to show Michel the small things he can he can perhaps still find pleasure in like eating ice cream, going to the cinema, a beautiful sunset or cloudy sky. We also remind him of the wonderful time we had on a cruise, where we could finally both be ourselves again.
What will the future bring? No one knows. Both Michel and I have been told that we might need a heart transplant at some point. Hopefully this won’t be necessary for Michel for a long time. I think that for me it will be sooner. I can feel that my body is functioning less well than a year ago. I have learnt to adapt. I have an electric bike, I have moved my office from the attic down to the ground floor. I f I have to go up to the attic I stop on the first floor for a bit. When out shopping I stop regularly to look in shop windows, I get help doing the household chores and I send my husband out to walk the dog whenever possible. A donor heart is generally only good for between 10 and 15 years, so the longer I can make my own heart go the better. On the other hand, if I had a donor heart maybe I wouldn’t be so cold all the time.
For now we just try to enjoy life. We have two mottos, the first; It could be worse, the second; enjoy the moment. If you sit in any hospital for an afternoon you see the misery of others. It is then you realise you are not alone. Our future is perhaps uncertain, but is that not the same for everyone? At the moment, we still have a future. When we don’t have that anymore, we will at least be able to say we have enjoyed our time as much as possible.
If it doesn’t go as it should then it will go as it goes?
In life you don’t always get what you think you deserve, you get what you are given.