When we got in our Peds room it felt like my heart could jump out my chest, my mum was with me as Mark was at work and we sat down. I mentioned the day before and she apologises and proceeds to tell us that a test had come back positive and goes into detail. This was the moment I'd been waiting for! This was it! Finally a reason! I had convinced myself the past 4 years that when I heard those words everything would make sense, everything would become clear and we would understand why our Rhysy had to go through all this... but boy was I wrong!.
I don't know if I was naïve or just clueless when it comes to the medical testing but i had always made the assumptions that it was very clear cut, like 'oh i have a sore arm, we will do a test and it will tell us if its X,Y or Z' but it definitely is not. My brain still can not comprehend the amount of variables in every single individual and how Drs do what they do. Yes a lot of Drs have inflated egos, yes they are frustrating and yes they can drop the ball but I couldn't do what they do haha. Anyway, back to our appointment... We were told that the 2nd round of genetic testing had come back with 2 results, both indicating a muscle issue but unfortunately our results were in the genetic lingo that was out of her scope. It was disappointing but we understood, there are specialists in every field right! She had found out as much information for us as she could but we would need to go up to Starship to meet with a geneticist to get a full understanding.
Walking out of the hospital that day was the best and worst feeling, we finally had a reason but we had no idea what it was. The amount of scenarios both good and bad that your mind can create in a short period of time is scary and i'll be honest i was struggling. It was a scary time, i think any unknown when it comes to our medical status is scary let alone when its about your child, My mind couldn't get past the brief discussion of life expectancies, what life may look like for us, I couldn't get past the thought that its genetic so that could mean no more babies for us, I just couldn't get past all the what ifs.
Our appointment at starship finally came around and I was nervous... We sit down in a small room with legitimately the tallest damn doors! Like why? Why did they need such tall doors?. Anyway the geneticist starts talking and he is so energetic and kind. He explains to us in detail over the next 45 minutes about Rhys results and diagnosis, he was using huge fancy words then rephrasing it so we could understand. It was amazing! I'll be honest, my mum and I both sat there and within 5 minutes I feel like our brains took turns tapping out because of the huge amounts of information but they were taking turns so it was fine haha… we killed it! asking all the questions we had discussed on our drive up, asking for clarification if we didn't understand something, we were on fire!. We then left that appointment and had a neurologist appointment later that day where there was more information and more explanation but it was such a positive trip. Finally we had answers so we celebrated with a trip to the zoo in horrendous rain and freezing cold winds haha.
