So we had an appointment this week, after waiting three months, with the geneticist. I left the appointment thinking her suggested diagnosis was not that bad, in the scheme of things, but the internet has gradually worn me down, and now in my head my baby is about to drop dead of cancer, or of brain-stem compression. These are two of the most likely and most serious complications of the condition she outlined, but as always seems to be the case with genetic conditions, it’s on a spectrum from not very bad to having a barely living cabbage patch kid.
The condition she suggested was likely – although it’s never a 100% reliable diagnosis even after the DNA results come back – is macrocephaly cutis marmorata. There are a variety of other names for it, and there are currently about 100 known cases worldwide. I’ve spent the last eight months on the NORD (National Organization for Rare Diseases) website, thinking “ah come on, how silly, of course he doesn’t have anything that rare”. Turns out I’m not quite that silly after all. She mentioned that this disorder means he is at higher risk of a rather bad-sounding kidney cancer in childhood, so he’ll have regular scans. I’ve also learnt from the wonderful internet that he is also at risk of his cerebellum growing so fast that it puts pressure on his brain stem, herniates down his spine and cuts off the flow of spinal fluid between his brain and his body. This sounds so catastrophic that I don’t particularly want to think about it. The really minor point now is that he might need orthopaedic inserts in his shoes, as his legs are different lengths, which until recently I found quite upsetting, and now seems completely trivial.
I get upset when I look at him, sometimes. He’s got such a beaming smile when he sees me, his whole face lights up, and I cry to think this might be the happiest he will ever be. I was sitting in the car driving back from my mother’s, with them both fast asleep in the back, and Uptown Girl came on the radio. I remember someone playing it in the playground at Errol Street Primary School, in 1988 probably. I thought back to being a little girl, running around in the Australian sunshine, still stressing just as much then as I do now about random, trivial details. If only one could ever anticipate all the difficulties of the future, and just enjoy each moment for whatever joy it brings. The headmistress walked up to me in the yard, and I thought I must be in big trouble. She was called Mrs Parkinson, and she had one of those 1980s blonde perms, which I remember thinking at the time was very cool. I stood there thinking I was about to get detention because she overheard me swearing, and indeed my friends scattered as she approached. She walked up to me and made some complimentary remarks on my progress in class, probably highlighting the excellent spelling my teachers used to endlessly emphasise. But of course I had anticipate only criticism, and saw only downsides. Now that bad stuff has happened, I have wasted a whole load of my life worrying about complete and utter crap. I mean seriously, who gives a shit if I’m thin enough, or fit enough, or if I’ve said the wrong thing, or if someone gets the wrong impression, or I fuck something up at work. It’s all fixable, whereas this is not.
So I should take the days I have with him now, and enjoy the smiling face for as long as he keeps on smiling. Perhaps it will all be fine.