Ruben’s Story – United Kingdom

Born on World Heart Day, the story of this little boy will capture anybody’s heart.  This is Ruben’s story, as told to us by his mother.

Ruben was monitored closely during pregnancy due to his brother being 7 weeks premature, with no reason for the early labour. Everything was as you would hope for, and Ruben decided it was time to make an appearance on Wednesday, 29 September. 

With no complications or concerns, we were discharged a few hours later. Life was as it should be as a family of four. When Ruben was 3 ½ weeks old, we realised there was something not right. His feeding and sleeping pattern had changed, he started to look mottled, his breathing had become laboured, and he was making saliva bubbles that were tacky. All this change happened in a matter of two days. The ambulance came to take his stats, and everything was as expected. However, the breathing was cause for investigation, so I ended up driving to the hospital, as I thought we would be seen and then sent home. 

This is where our worlds turned on their heads! After being monitored for around an hour, suddenly, Ruben was transported to the Resuscitation Unit. There were around 15 doctors and nurses in the room with him, all trying to stabilise him. Once they managed to intubate him, they could x-ray his chest, and they confirmed that he had an enlarged heart, which was cause for concern. We were rushed to London’s Paediatric Intensive Care Unit (PICU), where we were told that he was suffering from dilated cardiomyopathy, which is a serious condition, and that our best chance was for him to be in hospital for months, and the worst case was we wouldn’t have him to take home. It was utterly shocking to hear your baby may die.  Never in my wildest of dreams could I have imagined that happening to such a bright eyed, healthy baby! 

Living at the hospital, being at his side 24/7, and willing him to improve each day was all I lived for at this stage. We got glimmers of hope with Ruben improving each day, and luckily no setbacks to dash our hopes. After 10 days, we were out of the hospital and home.  Who could have imagined this after hearing that the best case was that we would be in hospital for MONTHS….He was our miracle baby! The cardiologist expected that his dilated cardiomyopathy was due to a viral infection. So we were given a treatment plan, and a load of medication and sent home. 

We had a month of enjoying Ruben.  He was such a beautiful, happy baby, even with his ‘Hulk’ temper, when things weren’t done the speed or way he wanted. It was so nice to get to experience this growing character. Just a day before we were meant to be going to see his cardiologist for a check-up, we ended up back in hospital, now with Bronchiolitis (RSV). I was so frustrated, as he had been doing so well, and now this horrible virus was sending us back to PICU. I now felt so many emotions again, knowing I was going back to the place that saved him but had given me such terrible news initially. I feared what I would be hearing this time!

Luckily Ruben’s heart function had not been damaged, but he was suffering the effects of RSV, a respiratory virus, which was causing him to struggle without the intervention of the intensive care unit. Again, we had 10 days in hospital, and then we were discharged home, with the hope of having a trouble-free Christmas. 

Once we were home, we didn’t really go anywhere, as I was worried about him catching something else, especially with Omicron being rife in the UK at this time. The thought of ending up back at the hospital, or ICU caused me a lot of anxiety. We managed to get to Christmas together as a family and had the loveliest time. I have lovely videos of Ruben cooing and talking to me. To experience this interaction and development from where we had come from was so heart-warming. However, our bliss was short-lived, as on New Year’s Eve we ended up back in hospital, as he wasn’t himself. His feeding had reduced again, he was not settling like normal, and then he started throwing up – which he would do on occasion after a feed, but this felt different…We rushed to the emergency room, and in the 20 minute journey, he had developed a rash all over his body.  Initially, they treated him for sepsis, but what we later learned was that these were all signs of his heart failing. 

Ruben and I had somehow, somewhere, contracted Covid and it attacked him, the doctors were trying to stabilise him, but everything was shutting down. He went into cardiac arrest for 20 minutes, they fought, and he fought, and he came back, but he was so fragile. The intensive care unit turned up to whisk us up to London again but making us fully aware that he may not make the journey. The only way for me to describe my feelings was utter despair and numb. I hoped that the PICU team would be able to work their magic, but those thoughts and feelings were dashed when he went into cardiac arrest two more times. The last time for 30 minutes, with me walking in on them performing CPR. This was when I felt my world cave in on me and I knew I would have to say bye to him…

I remember the doctors coming in to talk to us, and me saying “he can’t be this unlucky – there must be more to this.” They agreed and suggested we all take part in the Trio Exome Sequencing test, to hopefully give us answers for Ruben. They also gave us one last option to try, which was to put him on ECMO, to see if his heart could rest and recover. We weighed up the options as we didn’t want him to suffer unnecessarily, but hope prevailed, and we agreed with the doctors that it was a risk worth taking, as the ECMO machine can be as much of a problem, as a solution, as it can potentially cause strokes, infection, or bleeding. So it came with a timeline of 10 days, as anything past this time dramatically increases the risks. 

We were now on a timeline wishing Ruben to improve…

This option gave us hope again, and when the operation went well, all we could do is wait and watch for the numbers to improve, however the next day when they did a brain scan they found that Ruben had a small bleed on the brain, which was likely caused from his cardiac arrests. This was another layer of hope dashed, however, he was still responding and behaving in a way that didn’t signify significant damage. Each day he was making small (very small) improvements, and I took comfort in this hope. However, we would then get another blow, which was his tummy bloating, which they worried was necrotising enterocolitis (NEC), which is a serious illness where the tissues in the intestine become inflamed and start to die, so they took him off the breast milk to understand the issue and ensure no further damage was taking place. Once we got the all clear with this, we then had a nurse state that he was having seizures, which could be from the brain bleed. This is when the doctors changed the term bleed on the brain, to him suffering a stroke. Whenever we had some hope, it was closely followed by something devastating to bring us back down to reality. It was truly breaking us every day, he then stopped passing urine, so they worried about his kidney function, and all along the journey I had stated, if it is not meant to be then we will know. I had to take a step back and accept, everything was telling us that he couldn’t continue this journey, so we had to make the painful decision, with the doctors to say goodbye to Ruben, and on the 12 January 2022, on a beautiful sunny day, I held Ruben in my arms, and he passed away. Away with all our hopes and dreams for him.

Two months after losing Ruben, we were informed that they had found something in the Genome testing, that Ruben suffered from GACI. It was hard to accept that we had caused this for him through our genetic makeup. I wanted to blame us, I wanted to blame the doctors… I had so much pain in my heart, I didn’t know what to do, and  I will always have to live with the unanswered questions of, had they have know his condition, would he have survived..? Could they have prevented this from happening, if they had known? 

This is why rare diseases need a platform, to spread awareness, and support research and the people affected.