Breaking point

Break it to make it.

“Every parent has one…yours came after two years.”

These were the words of my daughter’s consultant as he consoled me, mid meltdown. The stretch of time I had managed without ‘breaking’ isn’t impressive, it’s actually quite worrying, and I am relieved that it has finally come.

What tipped me over the brittle edge of my own medicalised motherhood, after the pre-diagnostic wilderness, after the feeding challenges, after the endless hospital stays, after the many scares, after the PICU stays, after the liver disease, after the liver transplant… was a chest infection.

She’s had them before, but this one is sticking around longer than usual; it evolves and devolves, only to evolve again. It is causing her to need a small amount of oxygen, which manifests as a small nasal cannula stuck to her face. I hate it.

I hate it because its longevity and unpredictability scare me. I hate the way the cannula is stuck down to her face. I think her face is the most beautiful thing I have ever beheld, through which all the solar power of the entire universe shines, so to cover even an inch of it with plastic feels like sacrilege. Maybe that is shallow of me, maybe I’m in denial about the severity of my daughter’s condition.

I don’t think it is this alone that has tipped me over the edge. I think it’s a culmination of the past two years, previously suppressed and bound up in survival - both my daughter’s and mine, that has finally come undone. That, and I’m working a programme again. It’s not for drugs or alcohol, because those have been long gone for more than 6 years now, but the last frontiers and buffers I place between me and my emotions. Anything addictive, whether it’s food, social media, spending money, or whatever poison you choose, has this way of crowding out valuable space in your cells for actually feeling your feelings. I can’t even remember consciously making the decision to drop the last barriers to total emotional nudity, it just sort of happened. I am, after all, a Virgo sun with a Scorpio ascendant, so the deep work is never done.

As much as I’m loathing the intensity of this season, I am aware too of its gifts. I can’t change the course of my daughter’s treatment plan, which as her mother and her protector is so hard, but I can reevaluate what it means to care for and protect her, within the heavily medicalised context. And after all, there is so much in life that is out of my control, so rather than trying to constantly control the weather, I can at least plan my journey for the time being.

I also have to balance keeping it in the day with seeing the bigger picture. Future planning and predicting is futile when dealing in rare disease. I used to bemoan this inability to predict anything in the just slightly-further-than-near future, but now I see it as the medicine I never knew I needed, and that being able to fortune tell and control outcomes is largely an illusion anyway. Because of this, I now spend my days a lot more fully. They don’t pass me by like they used to, because now I’m not skipping way ahead to an imaginary future that may never happen, or hankering after a distorted memory.

It can also be very heavy in the here and now. When a day is particularly bad, and I’ve had news I don’t want, or there’s been a set back, I often feel quite literally suffocated by the emotions that I had always been so good at stuffing down in one way or another. The impulse is to scream, but you can’t do that on a children’s ward, so I have to find other ways to disperse the intensity of it all as slowly as I can. I do not always get it right. My voice gets shrill when I try to speak through tears. It’s as if maybe 7 or 8 year old me is clawing at my larynx, trying to be heard after all this time. I don’t know enough about inner-child work, but I do believe there is a lot of truth in it. I’m 35 now, so arriving at a point of fully feeling all of my feelings is better late than never, but it is also hard, because today’s emotions are also loaded with the weight of the last 3 decades.

I’m grateful to be surrounded by the best of friends. Friends who have never experienced anything like what I’m going through, but who don’t need to to be there for me and love me. It seems to be a bit of a myth that people desert you in hard times, or maybe I’ve just been lucky. It has shown me that I have been blessed with wonderful friends.

One of those friends took me for a non-alcoholic beer yesterday. She knew I needed to get out of hospital and just talk about how shit it all was. I am so grateful for the absence of platitudes, which I know are always said with the best of intentions, but sometimes the best thing a friend can do, even if they have no understanding of what I’m going through, is just mirror back how difficult it is. This actually helps me move through it better. You have to be at a level of emotional maturity to do this of course, but it is a helpful reminder to all of us that we don’t need to be afraid of talking about and acknowledging awful stuff. It is healing to do so.

Also, acknowledging the hardship in all its glory also lets you see where its got you. She reminded me of life before my daughter (we’ve known each other many, many years), and how this has given me such a wave of purpose. Beyond becoming a mother, which I’ve always dreamed of since I myself was a child, I believe wholeheartedly that I was also meant to become a rare disease parent.

Luckily, when we entered this world with Ruby’s diagnosis in 2024, there was already a lot of movement in drug research for her condition, but that has absolutely catapulted in recent months, and my husband and I find ourselves being looked to as advocates by the scientists to help further their cause. We are so grateful and we do not take any of it for granted. We are dynamic, energetic people, and this is clearly where our energy was meant to go.

So, whilst I learn to manage the hard, monotonous and slow days (and my emotions), I am able to simultaneously look to the future; not with dread or fear of what this disease might look like as she grows, but with hope and a deep sense of purpose that I can, in some way, be part of moving the needle for Ruby and children like her in any small way.

If you are moved by her story, I would love to share some ways that you can stay connected to the work I do with various charities for her condition:

CDG UK is a long-standing charity for all 180+ subtypes of CDG, and you can follow us on instagram and linkedin too, and share our work and message with your own networks.

If you want to specifically support the research going into my daughter’s subtype, which is the most common subtype of PMM2-CDG, then please do check out Project PMM2, which is currently registered as a charity in both the US and here in the UK, with a UK donations page opening very shortly. To stay up-to-date with when that will be, follow our instagram and Linkedin pages.

Clockwise L-R Blaise, Dominic and Ruby - the PMM2 warrior crew