Maisie's story

Mitochondrial disease

Since the last blog post, we’ve been in and out of hospital, and currently, we are in again!

She just hasn’t been herself. Really tired and irritable, sometimes seeming like she is in pain. There are lovely times when she can seem quite relaxed for a while, but she isn’t as happy and excited as she has been.

We managed to come home for a few days and packed in a few more nice things: a log fire and film in the shed, fireworks and sparklers, a few meals out, plenty of baths!

But on one of her consultant appointments, we were given the news that after her last stay in hospital, the metabolic team at Bristol believed she may have a Mitochondrial disease. The fact that her lactate had been consistently really high and now her bicarbonate and sodium levels were low (indicating leaky kidneys) things didn’t look good. Initially, we just felt like we had been told these things before. But after a bit of online research, it started to sink in how serious it was, and how much, sadly, the diagnosis seemed to fit her and her symptoms.

Mitochondrial disease is currently incurable. In children especially it is life limiting, and the earlier the symptoms arise, the more serious the disease can be.

Looking on the Lily Foundation website (a wonderful charity which has done so much already), there is story after devastating story of beautiful children taken far too soon, and often incredibly, terrifyingly quickly.

So, we’re back in Truro hospital again. Our little family living two separate lives, albeit temporarily – with Ben looking after Lowen, and I here with Maisie. And although she is stable, when I take the time to think about it, it is so so scary. I find myself looking at her constantly for signs of breathing – I’m just so worried she may just slip away without us noticing, without us being prepared and without being able to say goodbye. I live in hope that we are a long long way off from that, but you can’t help thinking, she may never bounce back from this. She may always be this exhausted and upset.

Each time we are here, I just hold on to coming home again, to see her smile in our bed, to see her kicking her legs with excitement under her disco lights, to watch her and Lowen sitting together on the sofa. It’s just so sad that her smile has gone right now – come back to us Maisie!

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