Rubén

This is Rubén, our little (big) bundle of laughter and chaos.

Rubén was born on the 17th December 2017… I remember excitedly packing minimal things in our hospital bag as our plan was to be in and out and on our way home the next day due to such a hassle free ‘healthy’ pregnancy. My labour began and in we went, and for a few initial hours things were fine. It was then pretty quickly things went downhill, medication I had been given forced Rubén to try to make his entrance a lot sooner than planned and Rubén became stressed.  We were rushed to the surgical suite where after hours of strain on Rubén, he was born.

They passed me my little boy, he was pale blue and lifeless. They quickly realised just how poorly he was and took him from me in silence. They began CPR immediately.  I remember it making no sense and seeing them trying in vain to revive him from the corner of the room. Before they rang a loud alarm, moments felt like a lifetime before around 20 people ran into the room and in turn trying to revive him, all we could do was watch in utter disbelief. How was this happening to us?

Eventually they put tubing down his throat and whisked him off to Intensive care. I remember the nurse telling us he was very, very poorly and that the next hour or so was critical for Rubén and that they would do all they could. Hours later, we got word we could see our little boy…he looked so cold and frail in just a tiny nappy covered in tubes unable to be held or touched. It was then the doctor dropped the first bombshell. ‘It’s brain damage, he has suffered what we know is a lack of oxygen and we are doing what we can and trying to minimise the damage with cooling… all looks okay but time is critical and we can only wait and see.” We were dumbstruck – how was this happening to us, our little boy? Time went on and Rubén was strong, doctors told us he was doing well despite changes on his brain spotted by MRI. By week 4 he was feeding beautifully and we headed out for home. It was amazing being home -no tubes, no beeping, just the TV and the sounds of our own home. However, I had begun to notice Rubén’s breathing to me seemed strange at times, as though he was working a little harder than average and I made it my mission to have people check him over. Everyone I spoke to slowly began to convince us we were just overly worried and to not over think things. But weeks later, Rubén caught a virus. It was truly awful, his breathing worsened and he began to struggle with his chest. By this point we had had previous trips into hospital where we had begged to be kept in and have Rubén monitored but it all came to nothing. This time we were fed up and refused to leave until we had seen a neurologist we were waiting on.

The neurologist examined Rubén and agreed he would take some tests but the majority had been done previously when in the NICU and had had shown nothing.

Rubén’s virus worsened, he became extremely ill, much worse than a typical child. He towed the line in ICU many a time, hooked to ventilators struggling to breathe & swallow. So many investigatory tests were done that came to nothing so we agreed to have procedures done in order to minimise risks – learn airways support, how to manage his feeding tube he had fitted, and how to use various machines like his ventilator he uses for sleeping, in order to get him home with us.

It was a long 6 month stay of illness after illness & progress was slow. Rubén wasn’t really making any milestones, he rolled and had some strength but not that of an ‘ordinary’ child. Then days before our planned discharge we received a call from the doctor. He had answers and wanted to talk. Everything in my ‘mum gut’ said it was bad, but we had reached a point of exhaustion and needed to know. But we were not prepared for what we would hear. “It’s X linked Myotubular Myopathy, inherited from you and it’s a slim chance your son will make it past the 18month mark. He will never gain functional milestones like walking independently, eating/ drinking oral food…I’m sorry,” said our neurologist.

I just remember being so so numb, guilty and heartbroken. Coming away, we realised that the diagnosis was not our son, he was his own person and we had got this far so what had changed. I set about looking for others like us, and that was when I came across the Myotubular Trust. Wendy, a founding member, was amazing – she was so helpful & she told me Rubén looked strong, and that now we had the diagnosis we could move forward. And that is what we did. We kept hope and got home just days later and didn’t look back.

Rubén thrived – gained more milestones, head control, independent sitting. Rubéns chest got easier to manage so we tried bits of food. He LOVED it.

Fast forward to now & Rubén is standing, will walk if supported, and is now eating 3 meals a day and using his feeding tube solely for water. He is a happy cheeky little boy, and all who support him are positive for his future. But none of it would be possible without the constant support of the Myotubular Trust. We have learnt so much from Anne, Wendy and Mel. We have gained confidence in taking on a lead role in caring for our son and learned how to advocate for what he needs in order to receive the best support. We have met many friends with other children with Myotubular Myopathy.

There will never be enough words to express our gratitude for the relentless work that they do. The Trust makes it their mission to tirelessly fundraise in order to try to fund research to find a potential cure or treatment for this dreadful heart breaking disease. We are lucky to have such amazing support around us and we would be lost without them.

I also want to thank you from the bottom of our hearts for reading our special boy’s story.

Thanks so much!

Sian, Adam & little Roo. Xxx