By Sally

Harry

It was a beautiful sunny day in April 2007 when Paul and I finally got married after 10 years together. Then on August bank holiday we discovered that I was pregnant and we were over the moon, we immediately told our families and friends, unable to keep the good news to ourselves. The pregnancy was a dream, I felt fantastic and loved my changing body. Everyone said pregnancy suited me. In December we left our London flat to move to the suburbs and a new home perfect for our little family.

Just before Christmas we had our 20-week scan, we were so excited to see our little baby wriggling in my tummy. As the sonographer counted fingers and toes Paul mentioned that his niece, Grace, had recently been diagnosed with an ASD hole in the heart. The sonographer said that she would make sure she had a good look at our little one’s heart to put our minds at rest. An hour later and she was still trying to get a clear picture of the baby’s heart, she called for her colleague to have a go but they just couldn’t see the chambers clearly enough to get their required measurements.

An appointment was made for us to go back the following day for another scan by the consultant in the fetal medicine unit and the sonograhper tried to reassure us that everything would be fine. We walked out of the hospital into the December drizzle and Christmas lights of Tottenham Court Road in shock, unable to comprehend that there might be something wrong with our baby. That evening we desperately tried to convince each other that tomorrow the doctor would tell us that everything was fine. The fetal medicine doctors were lovely but they did not tell us what we wanted to hear. They said that there was definitely something wrong but we would need to see a specialist fetal cardiologist at Great Ormond Street. Just the name of the famous hospital struck fear into us. If it was serious enough for us to have to go there then it must be bad, right?

The next few days were a blur and when we finally walked up to the entrance of Great Ormond Street it was with a mixture of fear and awe. Dr Yates did the scan but gave little away, we desperately tried to read his facial expressions for a little nod or smile that would indicate that everything was fine after all. We were taken into a little side room for the verdict. As he reeled of terms like co-arctation of the aorta, hyperplastic arch, ASD, VSD, small left ventricle, possible Hyperplastic Left Heart Syndrome my head began to spin. I felt like I was up near the ceiling looking down on myself. Paul was fantastic and asked lots of relevant and intelligent questions but I was silent, quietly freaking out inside. Dr Yates very tactfully asked if we were still committed to the pregnancy and we both said yes immediately. This was our baby and we loved it no matter what. He explained that they would monitor the baby’s heart closely to see if the left side was still growing or if it had completely stopped. He said that regular scans over the next few months would allow them to work out a plan for what to do when the baby was born and said that he was ‘cautiously optimistic’.

We sat in a cafe around the corner and the waiters kept a respectful distance as I cried into my tea and we called our parents. Suddenly we both felt that we really wanted to know if the baby was a boy or a girl, we wanted to know who this little person was. We called the hospital and they kindly agreed to give me another scan the next day to have a look. As we had always thought the baby was a little boy and we decided to call him Harry, Paul’s Granddad’s name.We had countless scans and appointments over the next few months. We tried to keep our spirits up and enjoy the pregnancy but each scan was terrifying.

On a positive note the left side of the heart, although small, seemed to be growing and the VSD got gradually smaller. It was very hard to explain things to friends and colleagues but I found it impossible to lie and say that all was fine. People would either be overly optimistic and tell us that everything would be great or try to block it out, neither of which helped. Our family and close friends were a great support but I cried a lot, especially when I was on my own. As my bump got bigger and bigger it was decided that a scheduled induction at 38 weeks would be safest and on the 14th April we took a taxi to the hospital to meet our baby. Everything was great, we were laughing and joking and I enjoyed the first 27 hours of labour, we used hypno-birthing and reflexology, I was fine. Then the baby’s heart rate started to drop alarmingly and we got scared. The doctors wanted to do an emergency caesarean and we had to agree, Harry was born at about 2pm on the 15th April at University College Hospital weighing exactly 6lbs.

The doctors gave him a quick check and Paul briefly held him near my face for a kiss then they took him to special care where the CATS (Cardiac Acute Transfer) ambulance team were ready to transfer him. Paul went with Harry and I was taken to the recovery ward, which was full of new Mums with their babies. As Harry was stable and in good shape Paul was able to talk the CATS  team into bringing him to see me in the ward, a first for UCH. He was perfect, tiny and plump at the same time with huge dark blue eyes. We had a cuddle for a few precious minutes and then it was time to go. Paul left with Harry in the ambulance for the short journey to Great Ormond Street and my parents sat with me at my bedside until the feeling started to come back in my body and I finally fell asleep. Harry was on a saline drip to keep him hydrated and a drip of a hormone called prostin, which maintained the fetal circulation in his heart, this kept his circulation going until the doctors could decide exactly what to do for the best.

That night Paul stayed with Harry all night long in the high dependency section of Ladybird Ward. Paul changed his first nappy and comforted our little boy as he had lots of horrible canulas fitted. But perhaps the hardest thing was that Harry wanted to feed, he kept turning his head to suckle but the doctors said he wasn’t allowed.The next morning I woke up at dawn feeling awful and assuming that I would just be stuck in bed all day. To my huge surprise the staff nurse told me that I had to get myself up and washed as she was arranging an ambulance to take me to GOS so that I could spend some time with Harry. Clearly the nursing staff saw how important it was that I was with my baby. So, dosed up on morphine and promising to take my tablets I was wheeled off to GOS.

I spent a lovely few hours cuddling Harry in the chair next to his cot wrapped in a little sheet, he was perfect even if he was connected to all of those machines. As his condition was stable and he was tolerating the prostin (it can stop babies breathing) the doctors were hoping to delay his surgery until the Friday so that they could run tests and have a case conference where all of the medical staff involved could put their heads together and decide what to do.What I didn’t know was that, in addition to the coarctation of the aorta and the hyperplastic arch, the left side of Harry’s heart (which we knew was small) was right on the borderline of being a viable size. Any bigger and the surgeons would perform what is called a bi-ventricular repair which would ultimately give him a ‘normal’ heart, any smaller and we would be facing something called a Norwood procedure which would mean three risky surgeries over his first three years and a complete re-plumbing of his heart and lung circulation.

The medical team were split on which way to go, some wanted to go for the bi-ventricular route and see what happened as this would give the best outcome if it worked. The rest felt that it was best to go straight for the Norwood as the left side was too small and they were getting better at doing this with each child that had the procedure. The biggest risk was that if the bi-ventricular repair didn’t work they would have to do the Norwood before Harry was 14 days old which would be a huge strain on him.

The all-important case conference was on the Thursday morning and apparently it was quite a debate. When the consultant came to tell us that they had decided to give the bi-ventricular repair a go Paul broke down and cried for the first time. I didn’t understand until several months later but Paul had been keeping all of that from me so that I could enjoy those few days with Harry. That is, and always will be, the most amazing thing anyone has ever done for me.

The surgery was scheduled for first thing on Friday morning. I was still an inpatient at University College Hospital so I had to spend the night there, I didn’t get much sleep and cried for most of the night, I felt sick from the morphine and my body ached. The staff were fantastic but I was still surrounded by new mothers and their crying healthy babies. The next morning Paul took baby Harry to the anaesthetic room and held his hand while he fell asleep, his tiny body on the huge surgery bed. Paul waved bye-bye and was gently corrected by one of the nurses ‘its night-night never goodbye at GOS’ a touching little detail which the amazing staff live by. He then walked the short distance to my hospital in a daze. I don’t really remember being discharged or the journey back but by the time we got to GOS Harry had already been in surgery for a couple of hours. We got back to Ladybird Ward to find the staff nurse on the phone with the surgeon, they wanted to talk to us and were coming to find us. We had no idea what this meant, why was one of the surgeons coming to see us? Shouldn’t he be in there doing the surgery? He explained that they had hoped to do the surgery by going in through Harry’s side. This is called a thoracotomy, it avoids the need for heart by-pass and has a quicker recovery than opening the chest down the front. Unfortunately they had not been able to do a good enough repair using this technique and they wanted to go ahead and open up the front of Harry’s chest. This meant that Harry would be on the heart by-pass machine, he would be in surgery for longer and his recovery would be longer but they would be able to do a better job of the repair.

We had no choice but to agree and spent the next few hours in stunned silence waiting for news. Eventually we were told that he was out of surgery and in CICU, the special intensive care unit for heart children. We were told to make our way there, as he would be ready for us to see soon. The nurse then came back and told us to get up there quickly as he was going back to surgery. We ran into CICU to find countless doctors around his bed. His left arm had gone purple, which meant that there was no blood going into it - it looked like a huge bruise covering his whole arm. I collapsed into a chair nearby, no longer able to hold it together. Paul was told that the artery leading to Harry’s arm was blocked but that they had no idea why. Harry was rushed back into surgery where the amazing surgical team performed micro-surgery on the tiny artery patching it and restoring the circulation. When we were allowed back to Harry’s bed we were presented with more machines and wires than I could ever have imagined. In the middle was our tiny little boy, wrapped in cotton wool and on a ventilator he was completely limp and had his chest open. The nurses who were caring for him explained that his chest was open to allow the heart enough room to swell up without damaging it. It was horrifying to see through the clear dressing into his chest cavity where we could actually see the blood being pumped. We were allowed to stay for a little while but the nurses clearly had a lot to do and they promised to call us the second anything changed.

We were staying in the family accommodation which is just a few minutes from the hospital, as we walked across the square London had never felt so quiet. I can’t remember going to bed but we woke at 6 to call the CICU, they said that Harry was OK. The important thing was that he had got through the night. We spent the whole of the next day at CICU. We quite quickly got our heads around what each machine was for, what the bleeps and buzzers meant and which tiny signs we were looking for as positive indicators that he was going in the right direction. We all prayed for Harry to do a wee as this was the most positive sign that his kidneys were working. Over the next few days there were lots more tests, a brain scan, dialysis, physiotherapy, countless hours sitting by his bedside and eventually a little bit of wee. Our parents came to the hospital every day, which forced us to take a break and get some food. They were all wonderful and although it was hugely hard on all of them they were able to stay positive for us even though Paul and I could not bring ourselves to do so for fear that something was going to go terribly wrong.

After a few days the surgical team said that Harry was doing well enough to have his chest closed. This involved turning the CICU into an operating theatre as it is safer to bring the theatre to the baby than the baby to the theatre. That went well and Harry continued to make tiny improvements until he was at last allowed his first meal. This was 1ml of breast milk - a teaspoon is 5ml - which felt like such a huge achievement for us all.

I had been determined to breastfeed Harry and had started to express my milk on the day after he was born. I was expressing every 4 hours and had lots and lots of milk, which was amazing as stress can make the milk dry up. There is a tiny expressing room near the CICU at Great Ormond Street and this became my refuge. I could hide in there in the quiet for a few minutes alone.Over the next few days Harry gradually improved and came off the ventilator onto CPAP and then finally he began breathing by himself. We learned how to clean him and change his nappy around the wires. He was tolerating the tube feeds well and even started to wriggle as the sedatives wore off. There were some very scary echos but on the whole his heart was doing well. Soon the nurses started to talk about leaving CICU for Ladybird Ward and after about 10 days we were off down the corridor and installed in a nice little room on the cardiac unit.The priority now seemed to be getting Harry to feed and put on a bit of weight. We tried to get Harry to breast feed every few hours but he didn’t seem to be able to do it, he couldn’t latch on and I found every attempt really traumatic. Eventually I had to give in and we decided to try Harry with a bottle, he was better at this but tired very quickly although he did put on little bits of weight each day. The doctors decided that in order to gain a proper picture of the state of Harry’s heart they needed to do something called a Cardiac Catheter to test the pressures inside. This involved passing cables up into his heart through the arteries in his groin under general anaesthetic. Terrifying though it was we took Harry back to the theatre for the test and sat waiting for news.

When he came back to the ward, wheeled in on a huge trolley, the news was good, the pressures were better than the doctors had hoped and the Norwood Procedure would not be necessary. During this time I was sleeping on the ward with Harry while Paul commuted home every evening. This was hard in different ways on both of us. I was exhausted as it is impossible to sleep properly in a fold out bed in a hot noisy ward. Paul was feeling torn between leaving us and knowing that he was no good to us if he was exhausted too.In the weeks that had passed since Harry's birthday Winter had turned to Spring and it was wonderfully sunny outside. As soon as he was well enough the nurses gave us a pram and with Harry wrapped in many blankets we were sent out for lunch. I remember sitting in a cafe feeling so proud and protective. Some good old fashioned fresh air did us all good.

Finally the time came for us to leave, this had been discussed for a few days and I became increasingly desperate to go home. Harry's temperature had fluctuated a bit and he hadn't gained weight as quickly as the doctors had hoped but I needed to go home and the idea of staying any longer really upset me. The doctors looked into sending us to a hospital nearer to home but we all agreed that, with the right support, we would be best at home. Paul arrived with the car seat and we thanked all of the wonderful staff as we left. Driving home with Harry in the car was very strange, I don't think Paul had ever driven so slowly around the North Circular. We were greeted by our whole family, the house was decorated with blue and white balloons and ribbons and a stack of presents awaited us. After presents, cake and lots of reassurance we were left to our own devices. Harry was still being mostly tube fed so we had bottles and bottles of breast milk to freeze and syringes to prepare in addition to the usual logistical confusion of bringing home a new baby. We were on a two hour feeding schedule which is totally relentless as there isn't enough time between feeds to do anything. On the first night we tucked our little boy into his moses basket next to our bed and set the alarm.

Each feed involved checking his feeding tube, flushing it with sterile water, offering him the breast (which he didn't understand), then offering a bottle (from which he would take a few millilitres) and finally topping him up with the rest of the feed through the tube. Unfortunately he would often bring most of it back again.The next day our lovely health visitor came to see us for the first time as did the area nurse and our parents. We had lots of support and gradually got used to being at home. We even ventured a trip to the super market. Harry got more wriggly and after a few days at home he pulled his feeding tube out. He seemed so much happier without it but the nurse said it should go back, however at our weekly check at GOS he was allowed to have it removed. He was doing really well and although he was very frail and his scars were very raw we tried to get on with life with a little baby as any other new parents would. Paul returned to work and I started going to Mum and baby groups.

Harry was always the littlest of his new baby friends, they were all better feeders, more active and more robust, they all put on more weight and were more demanding but Harry was by far the cutest and was very content. However while other new parents are worried about when their baby will sleep through the night we were busy worrying about if and when Harry would need more surgery or how underweight he was.We began to notice that Harry would get very upset when he was sick, which happened a lot and seemed to have very bad wind. This culminated one evening, when he was 10 weeks old, with him coughing and choking so badly that we called an ambulance. We were rushed with sirens blaring into Whipps Cross hospital to the waiting medical staff. Harry was hooked up to all sorts of machines, when presented with a heart baby A&E pull out all of the stops. He was diagnosed with Chronic Gastrointestinal Reflux Disease which, in its milder form, is very common but most babies do not get themselves hospitalised with it. We were given medicines to control the symptoms which he has been on ever since and allowed home after a week. I felt ok about this, at least it was nothing to do with his heart. In addition to the reflux Harry had paralysis of his left vocal cord, this meant that his voice was very quiet and that he had a weak cough and swallow. It meant that a lot of the time he would aspirate on his milk or when he was sick. This caused a lot of chest infections and ultimately lead to the introduction of Carobel to thicken all of his liquids. The Carobel helped a lot and increased his intake of milk. Over time his vocal chord has strengthened and he is now very noisy indeed.

Colds and chest infections are always a worry with Harry because he goes downhill so quickly and finds it hard to fight them off. If we can't get him to the GP we have learned to take him straight to A&E where he usually gets a chest xray, sats monitoring, antibiotics and if we are lucky we get sent home. Over Harry's first year our appointments at Great Ormond Street were monthly, then bi-monthly, then four months and then six as each time we returned we were told that his heart was doing well. Miraculously we were even told that his ASD hole in the heart was gone. This was wonderful and unexpected news as we had always expected that Harry would need further surgery to repair it. Harry's reflux gradually came under control with the medication and a few practical tips such as putting him to bed on a slope but his weight gain was very slow and he was still sick often. We went to see a dietician who mapped out a high calorie diet full of ice-cream and butter but this often made him more sick and mealtimes were very stressful.

We had our first family holiday and our first christmas together. Harry was such a jolly little boy but was still very much a baby compared to his friends who were crawling and beginning to walk. Sadly in the new year of 2009 we lost Paul's Mum which was hugely traumatic and unexpected. Between this time and Harry's birthday I became more and more depressed and started to suffer from panic attacks. I had been suffering from postnatal depression for months but with the support of family, friends and a wonderful councillor I had been able to keep on top of things. Conversely Harry was doing great barring a dose of Phnuemonia in the spring, I couldn't understand why I was feeling worse as he was getting better and all of the stresses of the previous year court up with me. For my own sanity I needed to get back to work but returning to my old career was not really an option as it meant long hours and commuting into London. I wanted to work but I needed to be Harry's main carer too. I decided to start up my own business designing and making curtains and soft furnishings, this was a big decision but it was also something that I had always wanted to do. Most importantly I felt that by recovering so well from his surgery Harry had given me this opportunity and I felt that I owed it to him to make the most of this chance.

Harry started nursery in February, when he was first born I never would have foreseen this day. From the very beginning he loved it there, the staff and the management were wonderfully understanding of his needs and treated him just like all of the other babies.There had always been a nagging feeling that it was quite a coincidence for Harry and his cousin Grace to both have heart conditions and for this reason we were referred to the Clinical Genetics team at Great Ormond Street in August. However we really expected the Geneticist to say that it was just a coincidence, that there was no more to it than that and that we were to stop worrying.Harry was examined, we explained his medical history and went through our family tree. Eventually we were told to get Harry dressed and to take a seat because the doctors had a diagnosis. This was very confusing as we didn't think we were looking for a diagnosis. The doctor told us that there was no connection between the two children's heart conditions and that Harry almost certainly had something called Kabuki Syndrome. He said that it was a clinical diagnosis based on Harry's medical history, his facial features and several other things. We left the appointment with very mixed feelings, we had always thought there was something else going on which might explain things but we really wanted to be told that there was nothing to worry about. We now had appointments to attend with a Audiologist to check his hearing, an eye specialist, a kidney scan and more blood tests. By gaining an answer in the form of the Kabuki diagnosis we now just had more unanswered questions.

Against the doctors advice we immediately googled Kabuki Syndrome when we got home and were blown away by what we read. Effectively we had gone to the hospital with a baby with a poorly heart and come home with a 'disabled child'. The terminology on the websites was terrifying and the list of symptoms seemed endless, varied and cruel. When presented with a list like that it is impossible not to think that all of the symptoms will happen to Harry but that is just not true. Yes Harry has a lot of the symptoms on the list but he also has no sign of a lot of the others.We had no experience at all of helping someone with learning difficulties, no idea of what support is available and no idea who to ask. Above all we felt that Harry had been cheated out of a 'normal' future. All that any parent really wants is for their child to be happy and grow up with the world as their oyster. Our minds were filled with a thousand questions which most parents don't give a second thought too, would Harry go to a regular school, would he ever pass his driving test, find love, have a family of his own. The fact is, we don't know – but then neither does any other parent – we don't know how our children are going to turn out or what the future holds for our families. All that we can do is our best.

The Kabuki diagnosis has forced us to think a lot about what makes us happy and it has opened our eyes to a lot of possibilities. Perhaps Harry will not be academic but he loves rhythm and music, who knows where his talents lie.

To our surprise there is a lot of help and support available if you talk to the right people. We immediately told the manager of Harry's nursery who explained about the SENCAN process and how they would work with us to get Harry the practical help which he will need in his pre-school years and in his transition into school. Our peadiatrician made the relevant referrals to our Education Authority and we now have an Educational Psychologist. We are just beginning to embark on the process of getting Harry some one to one help in nursery. This seems to be a complicated process, especially because Harry is so young to have a diagnosis. We are currently waiting to hear from the SEN panel regarding what will happen next.

We also have a wonderful Speech and Language Therapist who currently thinks that Harry is about 6 months behind in his communication, which isn't too bad and we have started to do Makaton Sign Language with him.Harry has been late in meeting all of his milestones so far but the important thing is that he has got there. He is now walking and while he is a bit more wobbly than his friends he can get around really well. Some of his fiends are chattering away and starting to form sentences where Harry is nowhere near that, but he can get his message across just fine if you listen to him properly. He now eats really well and his reflux is under control. He gets a lot of chest infections and the smallest cold will lead to a run of antibiotics which upset his tummy and ruin his appetite. We have had several stays in hospital with phneumonia and so we are rather careful with him. His horseshoe kidney doesn't seem to be a problem, more of a signifier that the Kabuki diagnosis is the right one.

Yes Harry has Kabuki but there is far more to him than that. He is the sweetest, most loving and friendly child, he is always smiling and he understands so much. Kabuki is part of Harry and part of our family but we can't let it define us. It is hard to keep a positive attitude, especially when we see Harry with his friends who are all doing more than he is able, but we wouldn't change Harry for the world. Paul and I had always thought we would have two children but with Harry being so poorly and my depression I thought for a long time after Harry was born that one would be enough, that I couldn't go through it all again. Harry has just turned two and we are thinking that a little brother or sister would be lovely. We would like Harry to have someone who understands him, who can stick up for him at school and be there for him when we are no longer around. We would also like another baby to complete our family and give us some perspective, to stop us focussing on Harry all the time. We have been told that there is very little chance of us having another child with Kabuki which is obviously a worry. We will have to have cardiac scans through the pregnancy and Im sure it will be worrying but ultimately another child is the best thing for all three of us.

We feel blessed to have our Harry having got so close to loosing him. Although we have missed out on some of the elements of having a bouncy little baby we will ultimately be stronger people. I thank god every day for the doctors who have looked after Harry and for the varied professionals who will help him through his future. We hope that despite his challenges and with the right love and support Harry will grow up into a happy, caring, fun loving man.

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