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Isovaleric Acidemia (IVA)

​It was Mother’s Day 2014 and we’d just found out that I was pregnant. It was a bit of a shock, as we had only recently started trying for a baby after returning from our honeymoon in Australia! But we were very excited, and even though I tried not to get too far ahead of myself – it was still very early days after all – I couldn’t resist buying our baby’s first set of Babygro’s, with little Superman logos emblazoned on them. This turned out to be very fitting, as a few months later we found out we were having a little boy that we would eventually go on to name Clark… our little superman

Two weeks before my due date, my waters broke unexpectedly so I was admitted to hospital and induced. Unfortunately that didn’t work, and so after 50 long hours of labour, Clark was born by emergency caesarean to two very tired and relieved parents! Two days later we were allowed to bring our little boy home, and were ready to start finding our “new normal”… we had no idea the journey we were about to embark upon.

For three days at home, we struggled to get Clark to feed – he seemed to only drink a tiny amount and then go to sleep. It got harder and harder to wake him for feeds, and he seemed a bit cold despite lots of skin to skin contact. We had been seen by breastfeeding support workers who assured us we were doing well, so we put Clark’s issues down to the fact he was a little jaundiced and we were completely new to all this.

When Clark was five days old, the midwife came out to do the newborn bloodspot screening and check him over. I remember the next bit like it was yesterday… she weighed Clark, typed some numbers into her calculator, and then picked up the phone without saying a word. Snippets of the phone call floated through my head… “five days old… lost 14% of birthweight… parents done all the right things…. yes, to admit him please…”. It was at this moment that we realised something a little more serious was going on. We were given an hour to get our bags packed with everything we’d need for a hospital stay, and get ourselves to the children’s unit in our local hospital – luckily we only lived a five minute walk away so we made it with time to spare. Clark’s observations were taken immediately. The nurse thought there was something wrong with the thermometer as it wasn’t going high enough, but on the third attempt it was realised that Clark really was that cold… his temperature was 33.9°C.

The next few hours were a blur as the doctors and nurses started addressing Clark’s problems, one by one. First up was a “hot-cot”, which turned out to be just that – a small bed for Clark to lie on with a ‘grill’ above him, warming him up. The first impression was that Clark may have meningitis and septicaemia, so they added in urine tests, blood tests, an IV drip, and a lumbar puncture. The results back from these tests painted an unclear picture, meaning the Consultant on duty that night had his work cut out for him. He got on the phone to specialists at Great Ormond Street Hospital and stayed on for hours past the end of his shift to try and figure out what was wrong. This night, Saturday 22nd November 2014, remains to this day the single worst and most terrifying day of our lives. The image of Clark lying on the hot-cot attached to numerous wires and sensors, hearing the alarms all start to go off, and stepping back to let the nurses who had rushed in the room to save him, will forever be etched in our memories.

Clark made it through the night, but the next day gave more questions than it answered. He did not have meningitis or septicaemia, but nobody knew what else it could be. The Consultant on duty the night before was back in, and following chats with the specialists, now had three drugs for Clark being couriered from two hospitals from across the country. It was at this point that the first hints of a diagnosis were thrown around the room… “Organic Acidemia”. Of course, we were straight onto Google to provide us with some information but ended up even more confused.

The next day saw more tests – x-rays and brainwave activity scans – before we were told at lunchtime to go home and pack a bigger bag, as we were being transferred to Great Ormond Street Hospital in London. This was a scary thought, GOSH was renowned for being the best in the world for children’s care and knowing that we were on our way there was both reassuring and terrifying. That afternoon, Clark was placed carefully in a transportation pod, put on a trolley and wheeled into the back of an ambulance. I went with him while Shane was chauffeured in our car and followed behind for the two hour journey, blue lights all the way.

The ambulance arrived first, and got Clark up to the ward that we would be calling home for the foreseeable future. After Shane had joined me, it suddenly hit us – we had no food, no transport, no accommodation, nobody we knew was here… we were truly on our own and fully reliant on the medical staff to make our son better. After Clark was hooked up to his drips and various medications, we sat at his bedside and waited… what for, we didn’t know. That night, the lovely nurses found a fold-out bed and put it up in one of the lesser used staff rooms for me to sleep on; Shane spent the night dozing in a chair at Clark’s bedside.

The next morning we helplessly watched as Clark was given more medications and antibiotics, cannulas were removed and replaced, x-rays and tests were scheduled. We felt both terrified at the situation, and reassured that Clark was receiving the best care possible. We were at a loss as to what to do with ourselves – we were new parents who, at this point in time, could provide nothing towards the care of our new baby. I did at least manage to get a bed sorted in the mother’s unit on this day, which was a weight off our minds – sleeping on a camp bed the night before was less than ideal only one week after major surgery!

The next day saw more blood tests and imaging scans, but the scariest thing was walking with Clark to an operating theatre where he was placed under general anaesthetic to insert a central line for bloods and medication. A fairly simple procedure… but he was so tiny, still well below his birth weight… and we were terrified. We were told to go to the canteen for a drink but ended up just pacing the corridors, waiting for the moment we could see our little boy again. Finally we got the call that Clark was back on the ward so we made our way back and were seen by the consultants shortly afterwards. We now had a diagnosis… Clark had Isovaleric Acidemia (IVA). The doctors explained this diagnosis to us and gave us a booklet, but we were swimming in all this new information. Over the next few days our research gave us a glimpse into the life we were now about to embark upon, filled with medication, food control, hospital appointments and admissions, and constant vigilance. Even then we had no idea about what this really meant. These few days also saw Clark become neutropenic and so he was moved from the four bed ward that he had been on since his arrival, into a private room. Although this was obviously worrying due to the risk to Clark’s health, it did at least mean that after 5 days of sleeping in a chair next to Clark’s cot, Shane now had his own pull-down bed to sleep on every night.

The next two weeks were a blur of weaning Clark off his IV feeds back on to milk, getting him to gain all the weight he had lost, making sure he had the correct balance of the right medications, and getting him healthy enough that he could be discharged home. Two weeks doesn’t sound a lot in retrospect, but at the time almost every day felt like two steps forward, one step back… progress was being made but it was slow, and new problems arose almost daily. Towards the end we were expecting to be discharged, only to be told last minute that Clark’s potassium levels were too high and so he would need to stay in for another few days. To have “freedom” ripped away from us at the eleventh hour was devastating at the time, although we understood that it was in Clark’s best interests.

Finally after 3 weeks at GOSH, the day finally came for Clark to be discharged! We were so glad to be able to bring our little boy home in time for Christmas, but those first few weeks were tough. We had various hospital appointments at both our local hospital and back at GOSH to attend, and a strict schedule of medication and milk to give to Clark. At one point we had 11 alarms set throughout the day to ensure we didn’t miss anything!

Over the next year, we had to take Clark in to be admitted due to sickness several times but the frequency of these admissions slowly decreased. With each check-up with his consultant, we were permitted to leave a little longer between his feeds… the relief we felt when we were able to drop Clark’s milk feeds to every 4 hours, and then every 6 hours a few months later, is indescribable! Finally at one year old, Clark was well enough to be left for 12 hours at night… and we could finally start trying to get a full nights’ sleep.

Clark has started to have a little understanding of his ‘special tummy’ and what this means for him. We have not had to take him to hospital to be admitted for over a year now, as he understands why he has to eat what we give him, and the implications if he doesn’t eat his specified amount of protein every day. Life dealing with Clark’s IVA has got a little easier, but is still hard. Occasionally we will be turning in for the night and suddenly remember we need to sort his meds before we can go to bed! We keep a record of what he eats throughout each day, so that we can plan his evening meal to ensure he meets (but doesn’t exceed) his protein allowance.

IVA has changed so much of our lives. The 25% risk of having another child with the same condition was a huge factor in our decision to even have another baby, but our youngest son James is just a carrier, like Shane and I. We consider ourselves very lucky as our boys absolutely adore each other, and we know that they will always look after each other.

Clark deals with his situation amazingly and we are so proud of him… he takes his own medication twice a day (4 syringes in total), and never complains that he always has something different to eat than his friends. Clark is now five years old and has recently started school… a day that, when he was a baby, we didn’t know if we would ever see. It is truly amazing to see the lovely young man that he is becoming, and watching him play with his friends without a care in the world – just the way it should be for a five year old… until his next mealtime, that is.

Dorset, United Kingdom

From the December 2019 OAA Newsletter

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