And Up And Down: The Rollercoaster Of Loss And Diagnoses

This year has been a rollercoaster of emotions. A taxing reverberation between living life and living loss. A friend exclaimed the other day, 'you've achieved monumental things this year. Things that most people wouldn't even dare to dream of.' And I have. But you know what I'm most proud of? I'm proud of our family unit. That has been to the brink and back and yet having been through it, feels stronger for it.

I know how far we've come because a few weeks ago, after getting a phone call from the genetics counsellor, all I wanted was to wrap my shaking arms around Bradley and bury my face into his chest. And at the start of this year, when my nervous system was completely fraught, all I wanted when I felt fear, was to run and not trust love. Slowly, over time, we've unravelled, still are; unravelling. And we've arrived at a place where I allow him to love me and my emotions feel safe with him. It's definitely a work in progress, as it will always be. Yet, the change in our composition as a family unit has been monumental.

At the start of this year, one of my real fears was that we wouldn't be able to fumble our way through this darkness and we would get muddled and not find our way back to each other. My runaway mind, envisaged that this might mean I never have another baby and that thought, was wringing me completely.

And yet, lately, a break, a change of perspective, an understanding built upon layers and layers of unravelling and rebuilding, meant that both Bradley and I felt comfortable, mentally and emotionally to try for another baby. In terms of a diagnosis, I'd checked in with the genetics counsellor a few weeks prior, who had explained that our only option moving forwards was to undergo expanded carrier screening and we were given the green light to try for another baby, when we were ready. The expanded carrier screening came back as 'low risk,' as in, Bradley and I weren't carriers for the 1200 or so genetic abnormalities they tested for. I had been explained that the expanded carrier screening wouldn't be able to determine what had happened to Charlie it was just an extra precautionary measure to help put our frazzled minds at ease.

Except the 'low risk' title didn't sit well with me. I requested that should I fall pregnant again, I didn't want to be seen as 'low risk.' I'd had one baby that had died because of what had officially been put down as a 'probable neuromuscular genetic abnormality.' It would be difficult to detect if any subsequent babies carried the same abnormality as it only presents in the muscle fibres; undetectable through ultrasound. My genetics counsellor contacted the clinical geneticist which prompted a 'Charlie' meeting between all major parties including the research pathologists.

Thus, the phone call that shook my nervous system. The words, 'Charlie's death was definitely because of a genetic abnormality' came down the phone line and then the wave hit. I knew this all along. It's what they were telling us was a high possibility. The research I had done in the common misdiagnosis between Hypoxic-Ischemic Encephalopathy (HIE) or damage to the brain because of lack of oxygen, and neuromuscular disorders, had indicated what Charlie had was a neuromuscular disorder and yet the language in the medical sphere, until today, had still insinuated environmental factors. But there, in words, someone had told me that without a doubt, Charlie had somehow inherited (or perhaps in a rare chance, spontaneously mutated) a gene that could be life threatening to any future babies.

A follow up appointment with the clinical geneticist, informed us that Charlie's muscle fibres never formed as they should. In fact, they were in such disarray that he didn't have any type 1 muscle fibres and very disorganised type 2 muscle fibres. The neuromuscular research pathologist had only seen this configuration once before. Which brings us information about another handful of genes that it could be in which they are now testing for. They've only now been able to give us a risk prediction; 1 in 4 if it's recessive or 1 in 2, if it's a boy, and x-linked inheritance. This information is super important for future fertility options but this is the rollercoaster. A mere few weeks ago, we had made the decision to try for another baby. Now, we've been told to pause, to wait until we can potentially find the gene responsible to give us more chance of having a baby that doesn't have the same abnormality.

I've known how lucky we were to have Charlie for the time we did from the start but knowing like really knowing now, how sick he was, that he was never going to breathe for himself, how completely incompatible with life his muscle fibres were, I feel so, so grateful for the first responders, my midwife and the paramedic team and all the countless people that worked on him when he arrived at hospital for being able to keep him alive for those two weeks. Those two weeks where he opened his eyes and looked around, poked his little tongue in and out and scrunched his face in an attempt to cry. I got to know my son, just a little bit in those two weeks and it meant we could find out information that may help with future fertility options. His life was, is, so precious, even if he was only ever made for my tummy.

I had a cry in Woolies the other day. I'd had a rough day, moped around, couldn't quite make it out of the house. I'd put off the grocery trip all day but pushed myself to get out. I cried driving in, dried my tears, pulled myself together to walk in and burst back into tears when Charlie's Nanny, my mother-in-law, asked how I really was. 'I just always imagined having a whole clutch of babies,' I sobbed into her shoulder. And that's the thing. I'm so grateful that I can have babies. That I have Gracie and Charlie. I still feel ripped off and I feel ripped off that it's not going to be as easy as 'just' having another one. Even though, all I want is a baby in my arms, not to replace Charlie but because that's what we wanted when we chose to have Charlie; another little addition to our family. And whilst we have that, I miss his physical presence so much.

My period came the other day, nine days late. I'd convinced myself I might be pregnant and it was both terrifying, with the information we know now and beautiful, in the tiny element of expectant joy that I felt. I was so overjoyed and scared and then the bleed came and I felt the grief all over again. Now, we must wait for another few months in the hope that they can find this gene so we have greater testing or IVF options or we must surrender to the unknown, trust in nature as we did with Charlie and Gracie.

In the meantime, I sit in this cluster of conflicting emotions. I stare in awe at the little freckles on Gracie's nose and wonder how I got so lucky to have her. And I sit there at her swimming lessons watching the parents of the newborn baby in front of me, hold up their baby, exclaiming, 'look, she's watching you' to the big sister in the pool. And I sit there, lonely, trying to hold back tears and wonder if I'm going to have to walk out as I imagine Gracie's little baby brother up there, looking down at her. 'Look, Gracie. Charlie's watching you.' And the emptiness leaks out.

Charlie sits in the folds of our hearts when they break apart and when they bloom. And I'm grateful for that. We walk with his presence everyday. I just really also want to be able to hold up my baby at his big sister's swimming lessons and say, 'Look, Gracie. Your baby is watching you.' I want to be able to tell her she's going to be a big sister again. But it turns out this journey is going to test our patience a little more; let us sit for awhile longer, as a family of four. And we must keep holding on to the hope, that it will be all the more precious, when we get to finally hold Charlie and Gracie's baby brother or sister.