CTBP1 – catchy, huh? That is the name for the thing that my daughter has that’s caused all of her challenges. Ataxia, muscle weakness, global delay, the whole shooting match. It’s so rare that there are 12 known cases, worldwide, as of today. It’s a single letter error in one of 3 billion DNA base pairs.
Those are numbers too big to get my head around, so a name kind of helps.
I think that we’d all get along less well with Hodgkin’s Disease, if it was still called ‘Painless Lymph Node Enlargement’. And it needsto be a name that is not just a string of letters. The syndrome closest to her condition is called HADDS, but that’s just an abbreviation of a raft of symptoms. It doesn’t feel like a real thing.
There’s a reason that these names are so catchy: these new diagnoses of brand new conditions are coming up thick and fast. It’s as much as they can do to work out what the genes do and name the condition after those. The work of examining a whole cohort of patients across different countries and working out what they’ve got in common, is mammoth. I wish them all the best of luck with that, on what will be a life changing achievement.
Does it make a difference on a practical basis? Knowing what ‘it’ is, rather than labelling Nenna a SWAN, esentially a title describing what she’s
not. Honestly, I don’t know yet. Now we’ve waited so long for any clue as to what was wrong (10 years in our case) it feels like an upheaval and an anti-climax all at the same time. Exciting new shores and terrifying isolation of only 11 other patients. I know neither of those things areentirely true either. Will it bring a treatment? Again, I used to think the chances of that were non-existent, until I met a parent who’d gone right through the process of being a SWAN, to having a diagnosis, to getting a treatment that’s made an incredible difference. So what do I know?
Travel hopefully, but carry a back up plan I guess is the best way forwards.
I’ve hardly written about writing at all this week, but one thought: in my Science-Fiction stuff, I was stuck not knowing what a load of new
characters and the ship they live in were called. And it was like this massive mental block to writing any of the story, even roughing out
where it might go. Now I’ve turned it over to my mailing list subscribers* to help and so far they’ve come up trumps. I now know, I think, what kind
of space-ship she is. But I still can’t write about her, discover more about her until I know what her name is. Funny that writing and being a SWAN
parent had so much in common. Go figure.
(* If you want to join in the ‘Do You Wanna Build a Spaceship?’ part of my mailing list, linky here: https://www.subscribepage.com/darklandingpage)