So as you might have read in a previous blog post, my son, Nero, needs some extra attention in the medical department. He has a form of autism (which form we’re not completely sure on) which is currently grinding his early development to a halt. He’s about 4,5 years old but doesn’t talk (not even words like daddy or mommy). And apart from the autism there’s another factor at play. I’d like to talk about that today since I get asked a lot of questions about this and sometimes it just becomes easier to refer to a blog-post.
The factor at play is an 18q deletion. A fairly recently discovered syndrome where a piece of the long arm of the 18th chromosome is missing. In case you didn’t know (I sure didn’t when we started this because I used to think biology was boring); a chromosome is a twirled up bit of DNA crammed into a string-like shape. Think of a chromosome as the string and the DNA as the threads making up the string, only instead of a neatly spun string, everything is scrambled.
The 18q mutation is pretty rare (only one in 40.000 kids get it) which means there’s about two cases each year in The Netherlands where we live. Needless to say; there aren’t exactly support-groups for this syndrome.
It can be heriditary but in the case of our son it’s a mutation started at conception; it’s not a thing he inherited from me or his mom and the chance of us having another kid with an 18q deletion are still 1 in 40.000 (although statistically this chance is a lot lower because what are the chances of lightning striking twice? :))
So if you think about it: my kid literally has a merge-error in his DNA. Starting at the very first cell that was ever going to be my son, this merge error happend. And then that cell reproduced, and those cells reproduced and within a few months that early little human was riddled with faulty cells.
The problem with DNA is that we do not really know how to fix this merge-error since it’s now in every cell of his body. The astounding thing (to me) is the fact that, for the most part, we do know what is in this bit of DNA and which systems are associated with it.
First of all; the amount of symptoms one experiences through an 18q deletion is dependent on the physical size of that deletion. Luckily for him, my son is missing a pretty tiny fraction, so his symptoms aren’t as bad as it can get. A person can, for instance, get major heart or kidney trauma from this syndrome, but it seems very unlikely that my son will experience those problems.
What he does have is a softening of his muscular issue. Meaning that he has trouble flexing and working his muscles to the full extend. That wasn’t very aparent when he was a baby, but starts to be way more noticable now that he’s 4,5 years old. He can’t really sit in a normal chair, can’t walk very far and needs a lot of general physical support with stuff like climbing the stairs.
There’s also a tendency for people with 18q to be autistic. It’s not yet clear if this is one of the areas that can cause autism. As you may now, this is something that’s being studied a lot -it’s currently one of the most studied disabilities in the world- and we’re still mostly guessing on which combination of genes causes it. Anyway: the long arm of the 18th chromosome is definitely on the short-list, but can’t explain the vast spectrum of autism with such a small mutation-chance.
Turning it into something positive
We get questions a lot. From friends, other parents, professionals working on making our lives as a family easier (there are currently 9 people involved in “Taskforce Nero”). If you have questions definitely feel free to ask them. We like to explain it. Mainly because we’ve poured a considerable amount of our time in and if we can use that and turn it into something positive than that’s great.
I’ve also begun working on a tool that can make our lives, and the lives of everybody with and everyone around someone with autism easier.
The tool is actually a webapp with the working title of Plan Ahoy, which I’m writing in Laravel and Vue.
It will make visual planning a lot easier than it is right now. It’s definitely not finished yet, although I would’ve wanted it to. But I haven’t quit my job for nothing; I’ll be spending a lot of time on it in months to come. I’ll use this blog as a sort of dev-journal, so if you’re interested, please check back. And again: if you have questions, feel free to leave them in the comments.