11 Apr 2018


Albert was born in February 2015, he was born with a very rare condition called Autosomal Recessive Polycystic Kidney Disease and this is our journey.

When we found out I was pregnant we were both very excited and a little scared at the same time. Everything throughout the pregnancy was fine, it was quite a nice pregnancy really, I didn’t have any morning sickness and was able to remain really active throughout. I continued to work full time and was also studying my final year at university in Veterinary Physiotherapy which I was extremely excited and passionate about.

I can honestly say it never crossed my mind that we would have a baby with health problems, I am guilty of being one of those people that thinks it will never happen to them. Sadly, I couldn’t have been more wrong.

I worked right up till the end having just 3.5 weeks until my due date, I had planned on having some time to relax and get everything ready, but Albert had other ideas and decided he was coming 3 weeks early. We had arrived at hospital and Albert was ready to come but on examination they discovered he was breech and advised an emergency caesarean section. At the time I was so upset and felt I was missing out on a natural birth but if we got him out safely that was all that mattered. From then to the moment he arrived went quick and without complication. Once he arrived there were concerns about his breathing, so we were quickly introduced to our baby, able to give him a kiss and then he was gone.

We were initially told the complications with his breathing usually wasn’t anything to be concerned about and can be quite normal with section births so at this point we still thought we had a healthy baby that just needed a little bit of help to get started. All this was about to change in the next 24 hours.

The following morning, I had managed to get showered and was waiting for John to arrive at the hospital, so we could go down to see our baby boy, it seemed like he was taking forever so by the time he arrived I wanted to get straight down to see Albert. On our way to intensive care we were met by a consultant and he asked if he could talk to us about Albert back in my room, I remember being irritated because I just wanted to see our baby. He sat us down and explained that Albert had deteriorated over night and was now requiring 100% ventilation, they also had concerns because his urine output was extremely poor, and his abdomen was very distended. He went on to explain they needed to transfer him to Manchester Children’s Hospital as he required specialist care and we needed to prepare ourselves for the worst.

In that moment our world had been turned upside down and I fell apart. How could this be happening to us, I had done all the right things, I had taken all the right vitamins, kept active and healthy and all the appointments had said he was fine. How was it possible that our perfect baby boy was so poorly? That was also the moment my mum and dad walked through the door, my dad had been working away and had rushed home to meet his grandson to find his daughter crying uncontrollably telling them their grandchild is extremely poorly. We all went down to see Albert before they transferred him, and that moment will stay with me forever, even sat here writing it out I have tears rolling down my face. I will never forget the sadness in my dad’s eyes, to me my dad has always been a strong person, the person I could go to if I needed help and would do anything to protect his family and here he was stood slightly back from us all looking so helpless and it broke me. I look back now being a parent I know how my parents must have felt, you would give anything in the world to take away the hurt and pain of your children.

Albert was taken to Manchester in an ambulance and we weren’t allowed to travel with him, so we called home to collect some clothes before making our own way to the hospital. I remember getting out of the car when we arrived home and breaking down in tears, this wasn’t right, we shouldn’t be coming home without our baby. Walking on to NICU at Manchester was a scary experience at first, seeing your baby hooked up to all the machines with them alarming like a musical orchestra and medical staff running around him using medical terms you are not yet familiar with takes some getting used to. The following morning, we met with two members of the fantastic renal team that have now looked after Albert along with the rest of the team since that very day, its funny looking back now how two strangers would go on to play such a significant part in your life and you didn’t realise it at the time. We were taken in to a room and it was explained to us that they didn’t yet know what they were dealing with, it was clear he had complications with his kidney function, but further tests were required to find out what exactly was going on. They ran through two possible scenarios with us, the first was that he could have a problem with the valves to his kidneys and the other was a disease which caused cysts to develop in his kidneys. The second of the two scenarios was a condition known as Polycystic Kidney Disease (PKD) and with this condition it comes in two forms, the first being Autosomal Dominant Polycystic Kidney Disease (ADPKD) which is the worlds most common inherited kidney disease and is relatively well treated and the second form being Autosomal Recessive Polycystic Kidney Disease (ARPKD) which is a rare condition that affects the kidney and the liver, it occurs in about one in every 20,000 live births in the UK and is a severe disease. With this condition one in three babies die from breathing problems during the first four weeks and it also causes extremely high blood pressure which was not currently an issue for Albert so that was encouraging. I came away from the meeting on a bit of a high because I though at least we are going to find out what is wrong with our baby and whatever it is we will deal with it.

Within the next 24 hours we had an answer that our baby had PKD, they were still not certain which of the two forms he had but the signs were encouraging that it may be the less severe form. Although at this point Albert was still ventilated his reliance on it was decreasing. Bearing in mind we had been told that one in three babies did not survive the first four weeks due to breathing difficulties if they had ARPKD we knew this was a huge milestone to get him breathing on his own. Day by day his breathing improved but he had started to retain fluid, in fact he retained over 1 kg in fluid in just three days which was extremely concerning and was also not going to help his breathing. After five days they had managed to get his fluid retention under control and Albert came off ventilation, he was breathing on his own!! He was on a high amount of oxygen but was breathing without assistance and continued to do well over the next few weeks.

We finally brought Albert home after four and a half weeks with our first clinic appointment at Manchester ten days later. It was amazing to have him home and was so nice to have some normality, from day one though Albert had struggled with his feeding and this had continued at home. He wasn’t interested in feeding and he also vomited with most of his feeds, I remember when he was on NICU the first thing we would look for in the morning was whether he had the same baby grow on we had left him in the night before because if he had been changed that meant he had been sick.

Our very first clinic appointment!! I was slightly nervous about this appointment but had loads of questions I wanted to ask, the time at home had given us time to digest all the information and I had it clear in my head what I wanted to know. When Albert had been discharged we still didn’t have a definite diagnosis, they had sent bloods off to genetics to get a final diagnosis, so I was also hoping these results may have come back. Let’s just say Albert started his first appointment as he meant to go on, we had gone through after being weighed, I had all my questions at the ready then they checked his blood pressure. It was 164 and in that second my heart dropped, we were told he needed to be admitted to try and get his blood pressure under control, not what I was expecting from his first clinic appointment. He was in for 3 weeks trying to get his blood pressure under control which was proving to be very difficult, this was made even harder work by the fact he got a cold whilst in hospital and I can honestly say this period in hospital was one of the scariest times in Alberts journey. Albert seemed to deteriorate in a matter of half an hour to the point we had a consultant from intensive care talking though the possibility of ventilating him and his own consultant sat on the floor in his room telling us he was really worried about him, he was struggling to breath and again he had retained a lot of fluid. The condition Albert has causes cyst to grow in the kidneys making them extremely large, this means they take up a lot of room in the body causing other organs to become squashed so when he comes down with a cold he doesn’t have the room to fully expand his lungs and it impacts on his breathing massively. This became a trend throughout his life that he struggled with simple things like colds, it also became a trend that whenever he was poorly he retained a lot of fluid. He was monitored extremely closely over the next few hours and he began to turn a corner, his breathing improved, and we avoided having to ventilate him. Over the next three weeks they managed to get his blood pressure and fluid retention under control, he was finally allowed home and he was on twelve different medications. We had been told at the start of those three weeks in hospital it was now looking likely that he had ARPKD due to the high blood pressure and this was confirmed during that stay as the genetic results came back.

The next twelve months consisted of many clinic appointments and too many to mention hospital admissions, within this time we had extreme low points but also some very happy moments. I remember at one of his early clinic appointments his consultant said to me you will come to hate being in hospital and you will get sick of speaking to doctors, he wasn’t exaggerating! It’s a funny relationship you come to have with the hospital because in a way it was like we were coming “home” whenever he was admitted, and it just becomes part of normal life and then on the flip side you would do anything not to have to stay in and you detest the place.

Within that twelve months Albert had his first kidney removed at six months old, this was one of my extreme low points. They made the decision to remove the first kidney due to extreme vomiting meaning his weight was becoming a real issue and his due to the size of his kidneys his breathing was deteriorating. Another personal issue was his sleeping, Albert wouldn’t sleep longer than 20-40 minutes through the day and night meaning myself and John were exhausted as this had been going on since he was born, we had put this down to the fact the kidneys were so big so thought he must be uncomfortable. I made the fatal mistake of putting all my eggs in one basket so to speak and thought having the kidney out would solve all these problems, this was a mistake I would never make again. The surgery went relatively well but there were a few scary moments in theatre and with him being so tiny he went straight to ICU after surgery. He spent five days on ICU with various complications and a few scary moments but overall, he recovered well and was returned to the ward. As time went on his feeding deteriorated and he was vomiting more than he had been prior to surgery, this was disappointing, but I kept telling myself to give it time and it may get better. His sleeping also hadn’t improved, and he was still waking every 20-40 minutes, we had also hoped it may help reduce his blood pressure and we could drop one of his medications, but this didn’t happen either. I remember sitting by Alberts bed and just breaking down in tears, I had pinned so much hope on the surgery improving things to give us a little breathing space and if anything, it had made things worse. Looking back, I don’t regret taking the kidney out at this point as it did improve some things, his breathing was a lot better and he was happier in himself, I just regret thinking it was going to be the answer to all our problems.

We had been home a couple of months when we were attending one of his clinic appointments, during the appointment they asked if his sleeping had improved. It hadn’t improved at all, at this point he had been waking every 20-40 minutes for eight months, the only way I could describe his waking was it was like he was having a nightmare, he would wake up screaming and you just needed to pick him up, give him a cuddle and he would settle back down. This was a lightbulb moment, his consultant looked down his list of medications and one of the blood pressure medications he was on had a side effect of sleep disturbance, his consultant had taken the medication as part of a drug trial and said it gave him the worst nightmares he has ever had. He said it was a long shot and unlikely to be causing him to wake because there was no evidence it had this effect in children and they had never heard of it causing this problem before in any of their renal patients. At this point I would have tried anything and certainly thought it was worth stopping the medication to see if it made a difference, it definitely couldn’t make it any worse. So, we made the decision to stop the medication the following day and that night Albert slept through from 9pm to 5am!!! I think I cried with happiness and he has continued to be a fantastic sleeper ever since. My advice after this is always go with your instinct and question things if you think they aren’t quite right because there is always that one child that likes to do things differently and guaranteed it’s probably yours.

Another area that hadn’t improved was his feeding, although he was steadily putting on weight he had been fed completely via a nasogastric tube since he was about three months old and would vomit with almost every feed. This aspect of Alberts illness has always been the area which I have struggled mentally with the most, I gravity fed him with a 60ml syringe until he was nearly 18 months old and it would take nearly an hour to feed him, so this meant sitting with him on my knee during this time. I would sit for almost an hour feeding him for him to then vomit all his feed up, which would mean I would then have to clean him up and start the whole process again, some days it felt like I was just sat feeding and cleaning up sick and it was near impossible to get out of the house. The times I did manage to venture out you could almost guarantee he would vomit whether it would be the time I had gone to a baby class or met up with friends or even just trying to walk the dogs. This would get to me more on some days than others but overall, it has definitely been my personal struggle, at times when you are out with friends or at a class and you catch people starring when he is being sick you do wish things were easier. I used to find myself bathing him with tears rolling down my face because he was so thin and just wishing there was something I could do better to get weight on him, I suppose its one of the strongest maternal instincts to feed your baby and I sometimes felt I wasn’t doing a very good job at it. Looking back if I could give any advice to someone in similar circumstances it would be don’t beat yourself up and do everything you can to make it easier for you. I fought for a long time about him having an NG tube full time and didn’t want to be “defeated” so persisted trying to feed him with a bottle which caused both Albert and myself a lot of tears and stress. It was the same with using the pump to feed him, I am not really sure what stopped me using the pump, but I think it was that it would make it “official” that he was going to be completely NG fed, this sounds really silly now thinking back because he had been completely NG fed since he was three months old and he was now nearly eighteen months old, so it was already pretty official. Once we started using the pump I instantly thought I can’t believe it has taken us so long to try this, it was the best thing we ever did and made life so much easier. He did still vomit with it but not as much and when he did it wasn’t as stressful because you hadn’t physically sat there for an hour so didn’t feel as though you had wasted all that time and the added bonus was you could feed on the go so we use it when out walking in the pram or the carrier and its brilliant.

As Albert spent most of the first twelve months in hospital I wanted to ensure the time he was home was good quality time so made every effort to go to as many baby classes as I could, take him swimming and do all the other activities that a healthy child would do. On the whole these times were fantastic memories apart from the odd class where he was sick or didn’t want to join in, or the baby massage class where I was fighting back tears for the whole class because I had stripped him off, looked round at all the other babies and realised he wasn’t the same as all the others, he had a big scar where his kidney had been removed, his huge tummy where the remaining kidney was and his NG tube but I came to realise all this didn’t matter because his confidence slowly increased and he was becoming a cheeky little boy who made every one smile that met him. I was also keen for him to go to nursery and my family also encouraged this to give me some time to myself, so he went to nursery just after he turned one, this was one of the best decisions I ever made. When he first started I did have moments where I considered pulling him out and it did take time for him to settle because he had never been away from me. His vomiting was also a worry because I felt like I was losing control of his feeding and they wouldn’t do it as good a job as I could at home. I was wrong, luckily, I found an amazing nursery and they managed his feeding really well and this was the time Albert came in to his own and his confidence sword. So, looking back I am glad I made the decisions I did to try and have that bit of normality and I would advise anyone to do the same, it gives you chance to enjoy the moments that you are supposed to when you have a new baby.

The decision was made to take the second kidney out when he was two years old, his blood pressure had become increasingly difficult to manage and his weight and breathing were again a concern. We had discussed removing the second kidney on and off since he was twelve months old and the truth was none of us knew if it would be the right decision or not. To me dialysis was quite a daunting prospect and I thought once the second kidney was out it wasn’t like we could put it back in if he didn’t cope well with dialysis, so it was a massive decision. We were given time to think about what we wanted to do and given all the facts about haemodialysis, the doctors were keen for us to take our time coming to a decision as haemodialysis can have a huge impact on families. Once we had made our decision we were shown round the dialysis unit and a date was set, for some reason I had convinced myself that the dialysis unit wouldn’t be like a hospital ward, don’t ask me why I had thought this because I could not honestly tell you. The dialysis unit is exactly like a ward and I remember thinking it’s quite small, I came away quite upset and a little panicked if I’m honest just thinking how am I going to this. I would need to bring Albert three possibly four days a week and I would have to leave the house at 6.30am and would only be getting home around 2pm, it was going to be a huge part of our lives and it was going to limit what we could do massively. I got home and thought about it realistically, people do that journey and get up at that time five days a week to go to work and that’s all I was doing, yes, I was going to be sat on a hospital ward and there would be times that he may be unwell, but I was going to treat it as a job and that seems to have worked for me.

The day soon came around that his second kidney was coming out, they were also putting in a central line for his haemodialysis. It never gets any easier taking your child down for surgery no matter how many times you take them, we had been told the surgery could take up to six hours, so we were prepared for a long wait. Three hours in to surgery we received a phone call to say they couldn’t complete the surgery because Albert had spiked a temperature, they had managed to get his central line in, but they couldn’t remove the kidney. Initially I was devastated because you prepare yourself for what is going to happen and the thought of having to go through it all again was a very daunting prospect, but I had no doubt the right decision was made, I wouldn’t want them to proceed if there was any risk. It was quite a shock when he came back from surgery, we had been shown what the central line looked like but to see it in Albert was quite upsetting. He was discharged the following day and the surgery to remove the kidney was rescheduled for four days’ time. The second attempt was successful, and the surgery went well, and Albert was making a fantastic recovery. Children never cease to amaze me at how resilient they are, and Albert was certainly no exception, the second kidney weighed nearly 1kg and was approximately the size of a bag of sugar, bearing in mind at this point Albert only weighed 8kg so the kidney was enormous and so was the incision to take it out, yet Albert was sat up within an hour of coming back from surgery and home in five days.

So, the next chapter of our journey had started……. haemodialysis. They had started him with short sessions whilst he was in hospital recovering from the surgery and he had tolerated these sessions well, this was probably the first time in Alberts life he had done things by the book and I couldn’t believe how well he was coping with it all. I had been quite anxious about starting dialysis for many reasons, there was the early starts and driving to Manchester, keeping a two-year-old toddler occupied for four hours and expecting them to stay still on a bed was a huge ask, how was I going to cope with the demands of going to dialysis three days a week and how was he going to tolerate it all. It all started really well, the early starts and the drive wasn’t too bad and the unit wasn’t as daunting and cramped as I had built up in my head, Albert was an absolute super star and to this day has never been difficult to keep on his bed (keeping him still is another story), for the first few weeks he was quite suspicious of the nurses but now he knows they aren’t going to hurt him he absolutely adores each and every one of them and there have been times it has been a task getting him to leave. Albert doing things by the book was short lived though and true to his reputation he soon had all the doctors and nurses scratching their heads, he had always suffered with high blood pressure as part of his condition but now having both kidneys removed this could be controlled by dialysis and fluid intake, Albert had other ideas. His blood pressure had dropped which is what they wanted and what they were expecting but it continued to drop over the next few weeks, they started him on a medication to try and bring it up, but it didn’t seem to make a difference, some days on dialysis it was dropping dangerously low and he could be very poorly with it. The doctors discussed with us that sometimes after the vessels have been used to coping with such high pressure it can time them time to adjust so it may just take time and slowly but surely his blood pressure came back up. Once his blood pressure evened out Albert started to thrive on dialysis, he has put 5kg on in twelve months and is so much happier, his development has come on leaps and bounds and has so much more energy. I have adjusted well and being on dialysis is just part of every day life, there are times when you really wish you didn’t have to go and it’s the little things that you miss out on like days out with friends or holidays away but seeing Albert so well makes up for it all.

We are now at the stage where we are waiting for a date for transplant, he has been seen at Birmingham Children’s Hospital as his condition affects his liver as well so there has always been a high chance that he needed a combined kidney and liver transplant. We had a very intense stay at Birmingham where he underwent numerous investigations to check his liver function and find out whether the combined transplant was necessary. A month after returning from Birmingham I received one of the best phone calls I’ve ever had, the results were back and they didn’t feel at this point it was necessary to transplant his liver and hopefully it will last him a few more years so we were given the go ahead to do an isolated kidney transplant, at the time I took the phone call I was sat in my car after dropping Albert off at nursery, I put the phone down and I just sat there and cried, we had finally had some really positive news. Myself and Alberts dad were keen to be tested and see if we were able to donate one of our kidney’s, so we were tested quite soon after we received the news, some more really positive news we are both a match. John was a slightly better match than myself and we had discussed prior to the results coming back what we do so the decision was made, and John is going to donate his kidney.

I remember being at the beginning of our journey thinking how are we going to get through the next few years and the point of transplant is so far out of reach but in the blink of an eye we are here. It has by far been the hardest few years of our lives and we have experienced some of the darkest moments we will probably ever experience but we have also had the privilege of going on this journey with the strongest and most amazing little boy who has surprised us at every hurdle and fought every step of the way. I am so thankful to have had some amazing support and I can honestly say I wouldn’t have coped at times without my mum, she has been my absolute rock. Even though your world is turned upside down when you find out you have a poorly child it will turn back over and its just working out how everything goes back, some pieces don’t go back where they were, but it may actually work better putting them in a different place. My friendships have changed, my work life and my home life but I have learnt so much. I have learnt to laugh more even when you are sat in A&E at 3am trying to catch a urine sample with a bowl, I have learnt to smile even when you would rather cry, and I have learnt to be positive even when you want to give up. Our journey is not over yet and there will be hard times along the way, but we are going to ride it and see where it takes us.

Erika (Mum)