One of a thousand: my daughter Ruby (part 1)

The story so far.

The beginning

I remember the moment I knew that I was pregnant. I woke up, clear as day and told my husband, with total conviction, that I was now with child. He responded by telling me that he had dreamt that we had a daughter. Boom. This would have been the exact moment that the tiny concert of cells that would become our daughter began knitting themselves to the wall of my womb. When you know, you just know. It is a totally indescribable knowing.

Despite being armed with this bone-deep certainty, I wanted confirmation from a pregnancy test. Given that this was my first rodeo; not literally, but just the first time I had ever tried to get pregnant, I clearly didn’t understand how pregnancy tests worked. I took the test much earlier than you are supposed to, and so got a negative result.

Surprised, because I was so, so sure, but not all that bothered, because it was our first ‘attempt’ so to speak, and I knew these things could take time, I proceeded to spend the rest of the week contorting myself into the craziest of yoga poses, scaling climbing walls, which culminated in me falling off one, badly spraining my ankle, and then dosing myself up to my eyeballs in an ibuprofen and codeine cocktail.

Then, the day my period was due came and went, with the event itself nowhere to be seen. Strange, I thought, because the test said I wasn’t pregnant. I put it down to the physiological of falling off the wall.

But then, no sign two days later. I felt a glimmer light up inside me. One that had been there all the while, but that I had been suppressing, because it seems I would still rather put my faith in a crude little stick than my own body and its deep, complex wisdom.

I had to take another test, of course. And there it was ‘pregnant’.

The moment Ruby and I met in the physical realm

The First Look into the Unknown

The pregnancy was fairly by-the-book until week 28, when I was offered an extra scan as standard given some of my earlier blood results, suggesting a potential for later preeclampsia. The scan showed that some of our baby’s measurements weren’t aligning with their graph.

I was scared, but most of all I was annoyed. I was annoyed because I knew that this was how she was meant to be. I didn’t know how I knew that yet, and I wouldn’t know until she was in her first months of life. All I knew at the time is that they were unnecessarily scaring me and destroying the peace of my pregnancy, which I had started to really love at that point.

Some of you reading this might think my attitude frivolous, and that they were indeed picking up the first clues of her condition, but they didn’t, and they wouldn’t have been able to, because it’s just that rare. My Ruby is one of only a thousand known cases worldwide with the inherited metabolic condition of Pmm2-CDG. Even if they had picked it up, there is nothing they could have done to change any outcomes. They did, however, run a tonne of other tests, all which came back negative; the conclusion being that, ‘this is just how she is’. A bit like with the pregnancy test, it was nice to have confirmation, but I already knew.

When she made me a mother in the early hours of Friday 13th October 2023, my body was left with an outward scar, but from that moment on, my heart began healing for the first time. When I locked eyes with her and she latched on to my breast for the first time, it was the closest thing to God that I have ever known.

Feeling the tiny toes that had been prodding me from the inside, on the outside

We were discharged from hospital the next day with no complaints, and everything seemed to unfold normally in the first few days. Community midwives were happy with how she was doing and how I was healing from birth. There was, however, a feeling I couldn’t shake, that something wasn’t quite as it should be, and I knew full well that it wasn’t postpartum depression.

At the two week weigh in, my lurking fears began to take on a new, terrifying language. She wasn’t gaining weight. This is not an entirely unusual or rare occurrence, but it is always heartbreaking for the mother, whose sole job at that point is to nourish her baby; this serves as brutal proof of failure, which is what I thought had happened.

As it would happen, her condition makes it very hard for her to gain weight; even on the highest calorie regimens, the weight gain is scant. It’s just how she is. In addition to this, at the time, the act of feeding itself was difficult for her. It takes a lot of energy to breastfeed, and, when things get out of sync metabolically, the motivation just isn’t there. It has really made me rethink the actual complexity of seemingly simple processes, not least how much actually has to ‘go right’ for a child to be born without any health challenges. It has humbled me and saved me from so much ignorance and, for that, I am grateful.

Diagnosis

Although it felt like a long road, we actually received Ruby’s diagnosis relatively quickly, before she was three months old, whereas some families we have since met wait years.

The run up, particularly the weeks that landed us on the ‘diagnostic odyssey’, was hell.

A scan of her chest showed us that her heart was surrounded, and squeezed by fluid. I will never forget that moment. I was beside myself with tiredness and worry, depleted by failed breastfeeding and constant expressing, unable to catch up with the energy that was leaking aggressively from my body. In and amongst the fog, that image on the scan screen brought me into incredibly sharp focus.

Something was very, very wrong.

This may have been just how she is, but right now, this, this needed to be fixed.