Rare Disease: Small Mercies, Big Trauma.


She was born at 6.40pm after a 15 hour labour. Her birth was a victory in more ways than one; my first child was delivered via emergency caesarean and I fought tooth and nail to avoid the same fate. I was ecstatic. I felt invincible, untouchable, goddess-like in my ability to make life happen. Every mother deserves to feel that same euphoria. Granted, it does fade; you float through the early days in a cotton fog, feeling your way through it all, then eventually, the fog gets sucked up and everything looks different. There’s a very strong chance you don’t recognise yourself. Your relationship changes in ways that you didn’t have the capacity to imagine in the before days, or even during the fog. You’ve arrived in motherhood and everything about it feels so much bigger than you will ever be and sometimes – no, let’s be fucking honest here, a lot of the time – this leads to a dark period. I’m confident in saying that the majority of women can relate to this and, if you can, I hope you found your way out. That place has a habit of keeping you down.

However, there’s another element to parenthood that not everyone sees; other lessons, other obstacles that aren’t part of the same rite of passage. It’s an entirely different beast, a heavyweight brute that demolishes every last ounce of sense you’ve managed to make out of being a parent.

In April 2010, that beast came to live with us. Morquio Syndrome lives in the cells of my daughter. Its purpose is to twist her bones, mess with her respiratory system and stop her from growing. With it, nothing happens quite the way that it should – and it never will. We know what Morquio has done to her so far, but we have no way of knowing what it might do in future. All we know is that it won’t ever leave.

Morquio stayed relatively low-key in the early days for us. My daughter wasn’t so different – she just didn’t sit up or walk at the same time as other kids her age. After a time, she learned to shuffle along the floor on her bottom, but by then her peers were running wild around playgroups and friends’ houses so I had to be vigilant in case she was hurt. As she grew older, though, she wasn’t growing physically – and she was susceptible to chest infections that regularly resulted in hospital stays; sometimes, she became so ill so quickly that we had to be bluelighted to hospital. Hospital staff would mistakenly assume she was a toddler due to her size and I would have to explain. As time went on, she began to explain for herself, in her own way, because her awareness was expanding.


Then, there came the first surgery. Her spine was severely curved – she had profound scoliosis – and a specialist in Manchester spent several years assessing her, working out the best way forward. In January 2014, she spent 10 hours in theatre having her spine manipulated and straightened with titanium steel rods. The recovery was excruciating. For weeks, she dealt with immense levels of pain while my heart splintered on a daily basis. Morquio was suddenly real. It swallowed everything. It still does. Our last surgery was only 2 months ago – a few screws in her knees – and our next will be sooner rather than later. We avoid the constant hospital admissions, but only because of a preventative antibiotic which in turn chips away at the immune system’s ability to support itself. Every day, twice a day, my daughter takes medication designed to prevent her existing heart condition from deteriorating further, but it offers no guarantees. Every week for 4 hours, she has a needle plugged into a little port on her chest via which she receives an enzyme replacement therapy. Again, it isn’t a cure and it offers no promises, but it was a hard won treatment and it offers us the hope of things being a little less doom and gloom than they’d be without it. Small mercies, if you will; perhaps some growth in height, less fatigue and muscle pain or if we really get lucky, a positive effect on the clouding in her corneas.


Most of the time, I’m quite skilled at counting our blessings. I like to reflect on what we have to be grateful for because it steadies me, somehow. Rare disease brings with it a lot of isolation, even within the ‘parent-carer’ realm, because when you’re around other families dealing with disability, none of them are quite like yours. But what it also brings is a particular type of connection with others in the same boat – a bond that doesn’t give a damn about miles, kilometres, seas, mountains or anything else. It doesn’t even need to be verbalised. It is a knowing that has brought me incredible comfort over the years and – I hope – continues to do so for all families connected by Morquio and rare disease.

In many ways, I’m glad that I write, because it gives me an outlet for so many things, Morquio being one of the most significant. In other ways, I wish I didn’t, because the compulsion to get the words out ultimately means engaging with the beast and that has one hell of an emotional cost.

Nonetheless, it’s one that I’ll willingly pay – because that’s what we do as parents.