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.
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.
As you may have noticed, I’m trying to be a bit more of a community animal recently. That has included blogging more frequently, more interacting, generally spending a bit more time interacting with both readers and writers. I’m enjoying it- I thought it might be awful, I’m a real recluse, generally speaking- but because it’s mostly online, if I get too overwhelmed I can run away and put a paper bag on my head and take deep breaths for a while if necessary.
As you know, I self-id as a complete and utter history nerd and I regularly get sucked down research rabbit holes. I find that I get stuck on how something would work so fixedly that I can’t move on with the story until I’ve worked it out in my own head. A lot of this doesn’t make it in to the book, because it’s simply not necessary for the plot for everyone else to know how corn was harvested in 1920, or what precise underwear working women wore in the mid-eighteenth century, or, in this particular case, what lanterns someone would have used to explore a cave system in the Himalayas in 1780.
After watching that, I made myself a little lamp with olive oil and a bit of cotton string supported out of it with some wire, in a glass jar. It gave enough light to hang out and chat, but not really enough to read by unless you were right next to it. I guess more wicks in the jar would make a difference.
I’m really pleased to introduce a New Thing this week! I’m going to occasionally invite other authors to answer questions about themselves and their work and anything else they want to chat about. The first person brave enough to subject themselves to this is Nell Iris! Welcome, Nell.
What if this is the last time we lie like this?