DateTuesday 28 February 2006

Strictly speaking, it’s Catch-26: of deafness, syndromes and DNA

baby3 had to go for a minor op the other day – to have grommets put in (because his middle ears seemed blocked). It takes general anaesthetic, so it’s just faintly scary. But we’d managed to get ourselves to feeling calm about it.

Then just before we signed the consent form, one of the doctors explained that they’d like also to take an ECG (electrocardiogram – monitoring the heart’s electrical activity) to, well, because, um, sometimes there can be heart problems associated with deafness. Very rare. But they’d like to know. To rule it out.

And were there higher risks in him having an anaesthetic if he did have this condition? Ah, well, yes, but they needed him to be asleep before they could take the ECG. We never expected to be bitten by Catch-22 in a hospital.

We felt more than a little blindsided by this. Couldn’t they have mentioned this quite some time ago? Yes, they could have. But what I realised after a little online digging is that there’s a huge amount that they haven’t been saying to us. There are all sorts of conditions that they think baby3 might have, but which they don’t want to mention to us. Charitably, one would say that it’s because they don’t want to worry us. Less charitably, one would say they don’t think we know how to handle the information.

See, when someone is born deaf for no apparent reason – no deafness in the family, not a premature birth (“prems” can suffer deafness because there’s insufficient time for ear organ development), not through infection of the mother during pregnancy – then it’s pretty surely a genetic cause. There are lots of potential causes of deafness; one of the most common is a flaw in connnexin-26 (“Cx26 has a carrier rate of 3%, similar to that for cystic fibrosis, and it causes about 20% of childhood deafness”. And more: the protein it makes is one of the main proteins involved in potassium homeostasis – that is, keeping the levels of potassium ions steady – in the cochlea’s supporting cells, fibrocytes of the spiral ligament and cells of the spiral limbushey, this all comes from a doctor who’s really called House!). But in many of them, you don’t get deafness on its own. You get a syndrome, a collection of symptoms that are all linked back to the misbehaving gene, or genes.

This is where it starts to get scary for a parent. You start Googling “deafness syndrome” and looking around and find things like this page about genetics and hearing loss which has such jolly entries as

Examples of associated abnormalities include vision loss due to retinal degeneration (Usher syndrome), enlarged thyroid (Pendred syndrome), and sudden fainting attacks caused by a heart defect (Jervell and Lange-Nielsen syndrome). Unlike WS, which is usually autosomal dominant, these three syndromes all show an autosomal recessive pattern of inheritance.

Autosomal recessive is the class of deafness that baby3 has. Seeing Usher syndrome gave me the experience that the cliche calls “chilled to the marrow”. It’s a cold start, a real glimpse of horror. The child is born deaf. Then in their teenage years, they go blind.

Fortunately – another bullet avoided – baby3 doesn’t fit Usher syndrome. He’s got good balance (he’s almost walking, a week from his first birthday); disturbed balance is a sign of Usher in infants with profound deafness. We’ll wait to hear about the heart defect (JLN syndrome; it’s indicated by a long QT cycle, which I amazed myself by having heard of before) and Pendred.

But seeing that page means it’s suddenly difficult just to see the deaf children of hearing parents only as “deaf”. Instead they suddenly seem like a timebomb that might be armed, that you can’t defuse because we can’t reach into our DNA; even if we could, we don’t even know which wires do what, which to cut, which to leave alone. I have the impression that every individual’s DNA is a complex of errors and mistakes, where the human within somehow stumbles through. None of us is genetically “clean”; it’s all relative.

Then in the children’s play centre the other day I saw some parents with a small(er) baby who noticeably had two hearing aids. Ah, fellow union members. I got talking. They said he had been diagnosed as severely to moderately deaf at about three months; not earlier, because he’d been in hospital for ages with hyperinsulinism – the opposite of diabetes, where the body produces too much insulin.

They were nice and the child was lovely. But having previously had the electric jolt of wondering whether baby3 might go blind some time in his teens through retinitis pigmentosa, I had a quick Google in a spare moment later: hyperinsulinism deafness syndrome yields rather a lot of Usher-related noise. Not definite. But suspicious. He was their first child. He might be blind by the time he’s 20, in which case all the effort teaching him to lip-read in primary school will be wasted. A charming couple with their first, lovely, child.

So tell me again about Intelligent Design. I already didn’t need to be persuaded that was a load of crap; the existence of parasitic wasps that paralyse their prey and lay eggs in them (so their young get to feast on the paralysed, living flesh) proves that if there were a God then he’d be a vicious bugger whom you’d never, ever want to meet. I’d rather have the randomness of evolution. But even there, the collateral damage inflicted on us by our aching, beaten-up DNA is sometimes more than we’d ever choose to bear.

Tagged! Now for three fictional journalists

Stuart Bruce has tagged me (and is lucky I saw it; it’s only because he posted this morning and I’m searching for other stuff) to come up with some fictional journalists:

Philip Young, author of the excellent Mediations blog, has tagged me in order to get me to blog about his new Scoop! blog so that it can start getting the attention it deserves. Scoop! is all about journalists in fiction so I’ve got to name three PR practitioners or journalists that appear in fiction. I then tag three others in the hope that they follow suit. Easy enough, except that Philip has made it nine times harder by restricting the list to UK/European fiction. That’s too hard so I’m going to bend the rules slightly and include film/TV as well as novels.

Well, I’ve never played in an online tagging game, but let’s have a shot. Their being UK or European is a hassle – I’d have nominated the one in Thomas Harris’s “Red Dragon”, who’s a marvellous sleazebag.

I suppose I’m not allowed to include the war-terrified journalist who stars in my as-yet-uncompleted (in fact barely even started) novel? Damn. Nor the one in On Green Dolphin Street, as he’s American. Double damn.

1) Millon De Floss, the journalist/stalker in Jasper Fforde’s Thursday Next novels (such as The Eyre Affair and Lost in a Good Book). Fforde – Jasper – is an excellent bloke and the novels are terrific fun.

2) The main character in Ink. (Try as I might, I can’t find a web link to this. Which may mean that I’m dreaming it.) As it happens I know Bill Scott-Kerr, who was the book’s editor. He’s also the guy who picked up Dan Brown. You may have heard of at least one of Brown’s books..

3) Um. This has had me stumped for more than 24 hours, which may say something about how many novels I read. I’m mentally scanning my bookshelves. Philip K Dick.. John Brunner.. not much journalism going on there. No, it has to be William Boot of Scoop, because apart from anything he’s so lifelike.

OK, so who do I tag? That’s a lot easier: Neil McIntosh, near-supremo of Guardian Unlimited; Bobbie Johnson, technology writer on the Guardian; Simon Waldman, deputy editor of Gdn Unlimited. I’m pretty sure none of them is fictional.

Don’t worry, blondes aren’t going away; and the paucity of hit records

  • The Disappearing Blonde Gene

    Status: Hoax reported as news Peter Frost has an article in the current issue of Evolution and Human Behavior in which he argues that the trait for blonde hair evolved 10,000 years ago in northern Europe because men found blonde women to be attractive–and because there were more women than men, the women had to compete for the men. (I’m simplifying his argument a lot.) But I’m not bringing this up to make a point about Frost’s article. Instead, I’m bringing it up because the London Times discusses his article ..

    So it should be called the Hoax Blonde Disappearing Gene? Is it some sort of blonde joke in its own right?
    There is something faintly depressing though about the way that “stories” like these just slide right into print without tripping all sorts of questions. If you’ve never experienced newsdesk desperation, the answer to why will elude you always.
    (Seen at Museum of Hoaxes)

  • From the BPI’s submission on DRM to the All Parliamentary Internet Group:

    In 2004, 6,127 singles and 29,510 albums were released in the UK5. Just 250 sold over 100,000 copies. The industry rule of thumb is that less than one in 10 releases is a hit (i.e. features in the music charts). Far fewer make a profit.

    Yow. That’s quite a small number beating 100,000: less than 1%. Think about that for a moment (because I think it’s the 100,000 mark that is needed for a physical CD to start making back its marketing costs). Viva Long Tail and the march of catalogue (points to a post which analyses, with graphs, “hit” album sales in the US over the past few decades and shows that the “Golden Age” was around 1972), eh?