MonthFebruary 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?

My iPo nan is annoyin me

OK, iPod gurus (for I know you’re out there), sort this one out.

I load up my iPod nano with songs that have encoded correctly when I play them on my computer.

Bu whe I pla the o th iPo th song cut of jus befor th en – whic i remarkabl annoyin.

This had already been raised before on this blog, here – where Ken wrote Not all but some songs I put on my Ipod (60Gb) don’t play all the way through b4 moving on to the next song. Only certain songs, but always the same songs.

However he was using Anapod, rather than iTunes. By contrast I’m using iTunes, and an iPod nano (4G). I didn’t particularly like his solution (using Ogg Vorbis) though.

So – any suggestions or explanations?

Using NetNewsWire as a bucket, not a toe, in the river of RSS feeds

Seen at Sci-Fi Hi-Fi in a post called
The “Four Things” Meme:

Now that I’m finally spending a quiet night at home, and working hard to get through the 500 odd unread items I have in NetNewsWire (to say nothing of my unanswered email!)..

500 unread items? Lightweight. I’ve got 140,000 unread items, and a total of 279,000-odd articles in this newsreader. (OK, I haven’t actually read all of those 139,000 “read” ones.) That’s what happens when you start using your newsreader as a resource rather than a snapshot; that is, as a bucket rather than a toe dipped in the water.

However there is a penalty to doing this. Specifically, it takes a loooong time for my machine to wake up from sleep if NetNewsWire is running (which it generally is). As in, more than half a minute while everything gets put into its place. (I can demonstrate that it’s NNW, by quitting it; then everything gets quite snappy.)

I’d imagine that Brent Simmons didn’t reallly imagine that anyone was going to use their newsreader in this way; I’ve presently got 527 feeds (not including “smart” lists where you look for particular combinations of words or phrases to keep on top of topics; I’ve discovered that smart lists slow up processing quite a lot, because nothing else can be downloaded while those run). And I’ve set it to keep articles for 900 days. Yes, that’s right, three years. I’m only surprised that I’ve only got 279,000 articles, as I’ve been running this since… oh, I’ll have to write a script to find out the age of the oldest article. Wait there…
   ..hmm, it’s from August 2003, which to me says that either someone has a huge feed or they’ve got their dates wrong. What? The name of the feed? Oh, I’ll have to alter the script. Wait there and I’ll start it off…
   Anyway, while that’s running.. I’m starting to think there are penalties in doing this which go beyond the benefits of doing this. But what’s an appropriate time to keep articles for before you – oh, it’s Robert Paterson’s Radio Weblog (long since dead); happy now? – let articles lapse? I often find it interesting to see how a story developed, by creating a smart list on a topic and sorting it by date. That way you find out who are the really reliable sources, who’s just a me-too, and how the ebb and especially flow of knowledge goes.

Still, if Brent has a new version of NNW in the wings that can handle huge number of articles more easily, that would be great. I have to say that one thing which would probably make a lot of sense would be if the oldest headline was “1” in the list. Presently – at least in Applescript – the oldest headline is No.howevermanyheadlinesyouhave. Does that have to be revised every time a new lot of feed details come in? I really hope not.

Canter & Siegel’s spirit lives on, 12 years later. Now with Google Adwords!

  • Green Cards, Red Sites
    With so much at stake, it’s perhaps no surprise that bad actors seek to take advantage of the Green Card Lottery to line their own pockets. We were tipped off by some SiteAdvisor user comments pointing out the misleading nature of seemingly-“official” green card lottery sites. So we decided to take a closer look.

    (The excellent) SiteAdvisor points to another lovely scam going on: people charging you to enter the US’s Green Card lottery, which is of course free to enter.

But unless I’ve completely skimmed this, they don’t mention that Canter & Siegel were the first to bring the GCl to infamy by spamming hundreds of newsgroups with their offer in .. 1994? (from memory). Here’s what I wrote then: the standfirst that the subs wrote says “Millions of people who chat to each other on the Internet fear they are about to be deluged by spam – the electronic version of junk mail.” Gee, do you think they were right?

Extract from that piece:

After Canter sent his message, anyone who logged onto a Usenet newsgroup hoping to find the latest gossip about their chosen topic – which range from Amazon women to the Vietnam war – would have been greeted by a message headed: ‘Green Card Lottery 1994 May be the Last One!! Sign up now!!’ Most of the estimated six million readers probably just deleted it. But many were infuriated.

Ah yes, “may be the last”. Not a lie, just an.. exaggeration.

(Seen at SiteAdvisor blog)

Update: I’ve added the article to this site so you can read it directly.)

Wild about wild cards; aahh., Fight Club..

  • Macfixit: can’t install iWeb update if Omniweb still running
    Problems installing — fix MacFixIt reader Brian Webster reports issues with installation of iWeb 1.0.1 that are caused by the Web browser OmniWeb being open.

    Brian writes: “I just tried downloading and installing the iWeb 1.0.1 update via Software Update and was presented with a dialog asking to ‘Please quit iWeb before beginning this update.’ Unfortunately, I wasn’t actually running iWeb. Clicking the OK button in the dialog just caused it to ask again, basically getting you stuck in an infinite loop.”

    “I dug around in the package and found the script that controls this behavior. It turns out that the scripts runs the ps command line tool and searches through the output for the string ‘iWeb.app.’ Like I said, I don’t have iWeb.app running, but I do have OmniWeb.app running, which of course contains the string ‘iWeb.app’. So, I quit OmniWeb, clicked OK, and the install proceeded fine.”

    Ah, those wildcards will get you every time if you let them.

  • Through A Glass Productions – Extras
    Fight Club trailer done as a romantic comedy (via Holy Moly). What do you mean, it isn’t a romantic comedy?

In today’s Guardian: a Lotus Notes followup

My, was there a lot of reaction to last week’s article on Lotus Notes.

So… in this week’s Guardian Technology I’ve put together a selection of the responses. It’s a selection because there wasn’t room for everything; and because, after last week’s complaints, I only used emails and blogs where the sender gave a post town, or agreed to let their comment be used, or where the blogger’s identity and location could be verified.

There was a moment of insanity where I considered headlining it “The Empire Strikes Back”, but that was only because it was the sequel. Obviously such a title would have been inflammatory, and anyway wrong. If George Lucas’s successful film had been called “The Rebels At The Barricades” I’d surely have considered that too.

But instead the article’s called “We are trying to make it better”, based on the comment from the Notes UI lead.

Better cochlear implants; the power law of homelessness and pollution

  • New type of cochlear implant to improve hearing? – Engadget
    A new version developed by the University of Michigan is based on thin-film electrodes to allow for easier and deeper insertion, and allowing for a greater range of simulated frequencies with 128 stimulating sites as opposed to the usual 16 or 22 of traditional implants.

    Amazing increase from the 22 now about to 128; though when you consider that the normal ear has the equivalent of 3,500 “channels” (frequency bands it can discern) then we’ve got a way to go.
    Oh, I’ve learnt a lot about cochlear implants in the past couple of days. See comments on that post for good links.

  • The New Yorker: Malcolm Gladwell on power-law problems like homelessness and car pollution
    Power-law problems leave us with an unpleasant choice. We can be true to our principles or we can fix the problem. We cannot do both.

    Another tour de force from Gladwell, who shows how just a few homeless people tend to push the cost of social service up astronomically – but that taking the “cost-efficient” route can offend our sense of moral justice. It’ll take a long time to read online; quicker on paper..

In The Guardian: Lotus Notes vs the end user

In this week’s Technology Guardian, I’ve written about Lotus Notes, and the mystery (raised by the responses on the Technology blog) of how Lotus Notes – specifically, its client side – has become so widely used despite having a terrible, awful user interface.

The piece is called Survival of the unfittest, and I’m sure at least one reader here will be itching to leap to Notes’s defence.

But hold on there. The points made in the piece are these:

  • administrators love Notes. They think it’s unbelievably good. (They might be right, but that’s not the point).
  • End-users find it a frustrating, inconsistent, inexplicable program.

Note: these two statements are not mutually inconsistent. They can both be true. Perfectly easily.

Also, they’re not my points. They’re me reporting what people say. Notes end-users (I hear them all around me every day) say it drives them mad. An instance: why, on the Mac version of v5, which should be pretty advanced, user-interface-wise, since it’s heard of the internet and everything, is there no keyboard shortcut to reply to a message? On Eudora, which has been around since the Year ., you have Cmd-R to Reply, and Cmd-Alt-R to Reply to All.

But what’s the response? Lots of flames from people who administer Lotus Notes saying that I’ve overlooked its flexibility. Hello? No, I haven’t overlooked that. But it’s not germane to the subject. I’ve been writing about user experience. From the article:

But further investigation shows that its proponents tend to be administrators, and its detractors the end users.

The Lotus Notes Sucks site insists its mission is not to put Lotus people out of work. “It’s to embarrass them into fixing the egregious problems. Specifically, the front end. Also, to influence people into not buying Lotus Notes until it works for users.”

People cannot figure Notes out. It does not give them a convenient mind map for what they’re doing. You can say “You should offer user training for Notes.” But a good program, even an enterprise-level one, and certainly an enterprise-level one that has been around for 17 years, should have evolved to show you some sort of mapping of what it does. Do people get user training for Instant Messaging? For Google Mail? For Google Maps? No, because the interface has been developed to be intuitive. Sure, none of those does as many things as Notes. Is Notes perhaps then trying too hard?

This inability to read something online and follow the thread of its argument seems to be an amazingly common failing. I notice it again and again in the grousing emails I get about articles: people don’t seem to twig what they’re reading. They skim a bit, and then reach the bit they disagree with, then leap to their email program to fire off their prejudices. It’s very reminiscent of David Pogue’s “How to be a curmudgeon on the internet” – ah, yeah, it would be No.6:

6. If you find a sentence early in the article that rubs you the wrong way, you are by no means obligated to finish reading. Stop right where you are–express your anger while it’s still good and hot! What are the odds that the writer is going to say anything else relevant to your point later in the piece, anyway?

He was channeling me that day, I just know it.