ASA: Rory’s Story

At five days old, Rory was diagnosed with the Urea Cycle Disorder called Argininosunccic Aciduria (ASA), all during the coronavirus pandemic.

At five days old, my gut just told me something was seriously wrong with Rory. He had slept pretty much all day, he wasn’t interested in having his milk and wouldn’t open his eyes. I rushed him to A&E where the doctors couldn’t find what was wrong; he was lifeless and, at that moment, I really thought that I was watching my baby die.

In the early hours of the morning, a final check showed a high spike in Rory’s ammonia levels. In a whirlwind of nurses, staff and doctors, we were told that if Rory had any chance of surviving, he needed to be transferred to the children’s hospital.

Within two hours, Rory was incubated in theatre and in the back of the NTS KIDS ambulance being blue lighted to Birmingham Children’s Hospital. When we arrived, everybody was already prepped and immediately started working on him. They had to filter his blood to try and get the ammonia out of his body. This was a very touch and go time with him being so young and weighing 6lbs as the machine was harsh but if he had any chance of surviving, it was necessary.

After the longest day of my life, I was taken into a private room and told that my son has Argininosunccic Aciduria also known as ASA. I thought I’d be fine – I mean people live with underlying diseases and conditions every day, right? But what I wasn’t prepared for was hearing about the side effects of ASA, including the what ifs and possibilities – that’s what was most terrifying. After two perfectly healthy girls, I wasn’t prepared to hear, “your son’s condition may have caused brain damage and may mean he has learning difficulties; we just don’t know what his life will be like.” At that moment, I felt my world crumble. How has this happened? Why my boy? What does this mean? What do I tell my daughters? The guilt that I felt towards my daughters broke me – how will I explain this to them? Will they understand? How will this change our life? I’d already disrupted normal life by adding another baby to our life and now I’m away from home, they are being passed from one family member to the next and they miss me.

A week later, I was full of Urea Cycle Disorder information, Rory was improving every day and we moved to Ward 7 while I did some training. Much to the doctor’s surprise, on the 18th of March, we were ready to go home WITHOUT an NG tube! Rory was taking a bottle, which doesn’t mean that he’ll never have an NG tube but, for the mean time, we can at least pretend to be normal. It was time to come home and reunite as a family. We were discharged from hospital and went straight into isolation and lockdown, so it’s been hard to get a grasp of normality in the middle of the pandemic, but we have a routine at home now and Rory’s thriving. Don’t be mistaken, some nights I stay up and worry myself sick about what the future holds for Rory but, for now, we are just taking life one day at a time. I’ve started an Instagram page and blog and find sharing my feelings on there really helps. After all, this is only the start of our life with ASA.

If you need any support with your condition, please contact us on contact@metabolicsupportuk.org or 0845 241 2173.