coming to terms with CTBP1

If you follow me on twitter and to a lesser extent here, you’ll know that Littlest has very complex needs and is classed as ‘life limited’. Well. Something has happened and I’m not sure how I feel about it, so where better to process my feelings than here, publicly?

Littlest is ten. She was born with pneumonia and spent some time in an incubator. She was very ill and on CPAP when she was eight weeks old and had swine flu the summer after she was born. She never met her milestones- rolling over, walking, talking. And as she got a bit bigger, everyone started to believe us when we said there was something not quite right about the way she was growing. Eventually we got referred to the bigger area hospital and then they referred us to Great Ormond Street. Lots of tests got done for rarer and rarer conditions and all drew a blank. GOS thought she was interesting and did a muscle biopsy and it turns out that the nucleus of her muscle cells are in the middle rather than on the edge as they should be, so her muscles don’t sproing properly and she’s underpowered. This presents similarly to Muscular Dystrophy, but it’s because she’s outgrowing her strength as she gets bigger.

So, she no longer walks at all, except in a walker. She is classed as having an unsafe swallow and is fed by tube. She can’t turn herself properly in bed. She can’t vocalize words, although she can make sounds. She communicates with sign, but that is getting harder for her as she is losing her fine motor control. She has a learning delay and is probably around about four intellectually. She can’t read but she recognizes some letters. She can count a bit. She understands pretty much everything you say to her and really wants to learn. She has a wicked sense of humor. She likes Peppa Pig and books and her iPad and any animals she comes in to contact with love her reciprocally.

We had no diagnosis. And therefore we had no prognosis. We were referred to the Children’s Hospice seven years ago. The criteria for a referral is that they think that the child has a fifty percent chance of surviving til they are nineteen.

This took some coming to terms with.

CTBP1 Gene

The thing I have found absolutely hardest to process, though, is the lack of certainty about it all. Four years ago I started having these stupid stress-related seizures, which were eventually diagnosed as ‘Functional Neurological Disorder’ or a learned reaction to stress. Mindfulness, relaxation and avoiding stress is the only way to manage it. It’s taken me years, but in the last twelve months or so, I’ve finally begun to live in the moment, appreciate what we have and just seize the day. Enjoy what we can. Live our life in the cracks of appointments with Littlest’s fifty-ish different professionals. Spend time with Talking Child. Fit friendships and self-care and tending to my relationship with Mr AL around the chaos.

And then. Yesterday. We had a letter from the 100,000 Genomes Project. We had had swabs and bloods taken years ago. I’d put it out of my mind as something that was yet another test that would be futile. A hoop for us to jump through that wouldn’t give us any answers but which might help future children and parents.

Littlest has a small alteration to the gene CTBP1.

We have an appointment on Tuesday at the area hospital to go and discuss it. Obviously in the meantime I have played Internet Misery Bingo (TM) and found a load of articles I don’t have the education to understand and also, a support group set up by a genetics study in the US, which has ONE (1) other parent on it, from the Netherlands, with a slightly older child who has hauntingly similar symptoms.

Mr AL and I are both a bit weepy and shocky. After so long and so much adrenaline, I have no other emotions left. How am I supposed to feel about this? Materially, it changes nothing. The sample size of children with the alteration is vanishingly small, so we are no closer to a prognosis than we were before.

All information is good, but I simply don’t know what to do with. A very long time ago I blogged every day about life, feelings, the usual introspective noughties stuff and it seems like that’s where I turn again when I need to process.

Thanks for listening, if you’ve got this far.

life chaos abounds

I missed last week’s post because life got in the way, I’m sorry. Littlest has been in plaster casts on her lower legs and feet for a fortnight after a botox injection in to her ankles. This is to help prevent her feet from curling under any more than they are and hopefully enable her to do standing transfers for a little longer, rather than needing hoisting all the time. The casts have meant the moving and handling we do on a daily basis has been much more difficult because you can’t get them wet. They are very hot pink though, which has caused some glee.

In addition we have had to update something called the ‘Advanced Care Plan’ which is basically setting out our wishes should she become very ill. It’s good to have in place, but flipping heck it’s grim to fill in. And Talking Child has had all sorts of traumatic appointments as well. We’ve collectively been sat on the sofa in a heap with our respective pants* on our heads. No writing was done and we all felt awful.

Since Friday, I’ve been clawing myself back up the slope and have written a handful of words – a few hundred – every day. Plus we managed to fit in a family trip to Longleat, where we fed giraffes, held snakes, watched giant otters sleeping and generally had a brilliant time. We have more trips planned over the summer holiday, starting with a weekend at the Children’s Hospice this coming Friday. I can’t wait.

Finally, I’m signed up to the SFF Book Bonanza giveaway this week – there are more than a hundred free SFF books and stories available for download for your reading pleasure should you so desire.

Next week: An excerpt from my work in progress, The Flowers of Time, which is cracking along slowing but steadily now, thank goodness.

*British pants, for maximum comedy value

works in progress: progressing, and that’s about all

I’ve done a load over the last month, but not much of it actual writing.

Because of the shenanigans with MailChimp pricing levels, I’ve ported my newsletter over to MailerLite, which I think will be a good thing long term, but was a pain in the neck to do at the time. And I’ve done the same for Mr AL, who has a much more complex set-up than I do, so it took ages. That done, I’ve also set myself up a proper Ko-fi page that will act as a sort of combination of things I blog here and exclusive content that first goes out to newsletter subscribers.

I’ve also committed to doing some posts for the Queeromance Ink Blog, about author-life in general rather than more bookish things. This involves me sitting down and actually writing them, but they’re coming together in my head.

Which brings me to actual writing! Inheritance of Shadows has another three thousand words, which went out yesterday – newsletter usually goes out on the first Tuesday of the month, barring disaster. If you’d like to get the monthly installments of Matty and Rob’s adventures, just hop on here. You will also be able to follow on Ko-fi as a supporter if you’d rather do it that way. I’m reading Secret Warriors: key scientists, code-breakers and propagandists of the great war by Taylor Downing as background, because Rob needs to know some stuff and I need to know the stuff before he can know the stuff. It’s fascinating.

Flowers of Time has had another few thousand words, but I’m still sidetracked by Katie Hickman’s She-Merchants, Buccaneers and Gentlewomen and feel like I need to get that under my belt before I write any more. I’m writing completely outside both my historical period and my geographical area and I don’t want to mess either up.

This month promises to be more of the same, hopefully with less opportunities for prevarication. Watch this space!

 

 

York: Roman, Medieval, Viking. And geese.

I lived in York for three years during college. It’s a beautiful city, small and full of history. My degree was a joint effort in history and archaeology and it was a privilege to just be able to wander round and soak up all the different eras.

I kept a narrow focus on medieval Britain in my studies and retrospectively I wish I’d been more open to learning about other parts of the world. There seemed so much to learn about my own country though – and I wanted to know it all.

I have very little interest in Kings-and-Queen type history, or even political history. It’s the day to day minutiae that interests me. What did people eat for breakfast? How did they repair their shoes? How did you keep warm in winter? How long did it take to walk from one place to another? York is chock-full of museums, you can’t chuck a rock without hitting one. And they’re all fascinating. But the things that fascinate me most are the little things. The faces on the gargoyles and grotesques in the Minster – are they carved in anyone’s likeness? How long did each one take to make? Or taking a walk along the walls or down The Shambles and thinking about all the people over the last couple of thousand years who have done the same. What were they thinking? Where were they going?

Pondering these questions in part has led me to where I am writing today. I like writing about people, rather than situations. Yes, my stories have situations in them, because doh, that’s life. But it’s how my characters work things out, how they deal with the day to day minutiae of living that drives me forward.

Despite all its grandeur and all its opportunity for historical and archaeological research, my main memory of York is of the waterfowl on the university campus grounds.

That’s social history for you. Forget the cathedral. It’s too big to carry with me. Let me take away my pictures of the geese.