The Diagnosis…
I don’t think any parent can be prepared for their child’s diagnosis, whether it be mild or extremely severe, it’s still your child this is happening to and there is nothing you can do. Your first thought as a parent is how can I fix this? What did I do wrong? Is it because I had that one glass of wine when I was pregnant? Did I not do this right? Have I done this to my child? I had all these thoughts for a long time.
With genetic conditions It’s there from the minute of conception. Amelia’s life was already determined before I even knew I was pregnant.
Amelia was diagnosed with Nemaline Myopathy type 2 when she was 2 and a half weeks old. A rare genetic neuromuscular disorder that affects muscular cells. To say we were prepared for this was an understatement. I received the call the day before to say the geneticists were coming to meet us the following morning regarding Amelia. I didn’t want to tell Paul as for the first night we were having a normal evening, but I did and I could see the pure panic in his eyes. He didn’t sleep and neither did I. The drive to the hospital was awful, we hardly spoke, I think we both knew what was coming but I didn’t want to even think or go to that place.
Our NICU sister was there waiting for us. She would be with us in the meeting as I needed her there. We went into the room and it was as horrific as my nightmares could have imagined.
They said they had found something. A genetic disorder that was extremely rare called Nemaline Myopathy. My heart sank and as they went on I could see Paul’s heart breaking. They explained that Paul and I had a particular gene and that when both parents have that gene it causes Nemaline Myopathy. It is a muscular disorder that is so rare it affects around 1 in 50,000 people. They said it made sense of all of Amelia’s problems, why she couldn’t feed, struggled with breathing, the floppiness, the hypotonia and everything else.
They couldn’t tell us how bad Amelia had it due to its rareness, and the few children that do have it (or that know about) have different symptoms. No child is the same. The spectrum is mainly made out of 6 different groups from the extremely rare to the mild onset. They handed Paul a sheet with some information and symptoms, he glanced over it and hid it from me. He knew I wasn’t ready to read it.
Now at this point I had no clue what was going on, I was in complete denial as I’m sure many parents have been. I don’t think I fully understood anything they said. I remember hearing ‘no cure’ and ‘we will be lead by Amelia’. This is not want a parent wants to hear, I wanted them to tell me it could be sorted and corrected and she would be fine.
When I look back now and relive the moment in my head as a medical mum, I see it all. The looks, the sympathy, the ‘oh those poor parents’. I’m used to these now, but at that point in our journey I was nowhere near understanding.
I wanted to be alone with Paul. It felt like they were talking to us for an eternity and I just wanted them to leave. Our Nicu sister squeezed my hand and encouraged them to go. She went to see how Amelia was doing. Paul turned to me and completely broke down, like I had never seen him before. For the first time I was the strong one, the one that seemed calm. ‘She will never walk, how are we going to do this’. Now I appeared calm, but in my head I was numb just numb. Almost like everything was dark, no lights no nothing. I don’t remember what I said to Paul to calm him down I just held him. He wanted to go so I told him to get the car.
I went straight to Amelia, our nurse was there and held me as I cried. I sat and held Amelia and just sobbed. My two week old child who I hardly knew and had to leave, I felt so guilty leaving her but I had to go Paul needed me and I needed him.
As you can imagine the drive home was bad. Silence and tears and the squeezing of hands got us through.
Now I had no clue how severe Nemaline could be. The first thing you are told is to not google anything! Paul had read the information and that’s all, he threw it away once we got home and I had no intention of reading it as I think I thought it wasn’t real. Once she was home she would be better, I just needed to focus on her coming home, I wasn’t ready for the next stage just yet.