Eine Kleine Nichtmusik

Witty and pertinent observations on matters of great significance OR Incoherent jottings on total irrelevancies OR Something else altogether OR All of the above

Monday, February 28, 2011

They fuck you up, your Mum and Dad: they may not mean to, but they do

It's been longer than I realised since I last posted, but then various things have been going on. I've been pretty busy at work, despite the sorry-you-haven't-been-successful-in-reapplying-for-your-job business. Last Monday I had confirmation that my application for voluntary redundancy (rather than being slotted in to some random job somewhere in Edinburgh) had been accepted, and I have a leaving date of 31st October (see, I said I was busy).

I had some other interesting news last Monday. Regular readers will recall that my brother died abot a year ago from a genetic disorder called Alpha-1 Antitrypsin Deficiency (A1AD). This means that he didn't produce enough antitrypsin (OK, so you guessed that, right?) whose main job is to mop up leftover neutrophil elastase. This is stuff which the immune system pumps out to get rid of infection-damaged tissues, especially in the lungs. If not mopped up properly it carries on munching and chews into healthy lung tissue as well, resulting in emphysema.

Anyway, my big bro spent some years on oxygen before a final bout of pneumonia took him away. Before him, a cousin on my mother's side met a similar end. So I went to the doctor a few weeks ago to get myself tested: not that I was showing symptoms of illness, but I wanted to know if I was a carrier (you need two bad copies of the relevant gene to have the illness, but one makes you a carrier). The doctor agreed, and a blood test was duly taken.

A week ago last Friday I got a message to ring the surgery, but by the time I picked it up they were closed. On Monday morning I was just about to ring the surgery when the doctor rang me on my mobile, which struck me as odd. She said she had the results back, and did I want to hear them over the phone or come in and discuss them in person? Clearly not good news, then, but I told her to go ahead. Well, as you will by now have guessed, I'm not a carrier: I actually have A1AD myself. As you may imagine, this came as a bit of a shock. Most people getting that news have gone to the doctor because they were ill. Indeed, a little Googling (and I've been doing quite a bit this past week) tells me that most sufferers average seven trips to three different doctors before getting correctly diagnosed. It seems quite a lot of sufferers have only very mild symptoms (and yes, it takes me a very long time to shake off colds; also I quickly get exhausted when skiing, though I'd put that down to "fat and unfit" rather than "lethal inherited condition"). And as the figures above suggest, even when there are symptoms the condition is severly under-diagnosed. Apparently it's the third commonest lethal inherited condition after Down's Syndrome and Cystic Fibrosis: but I bet you'd heard of those and not of A1AD. (Or as a Facebook friend put it, "Typical of you to have something common but obscure".)

A friend whom I told about the diagnosis said she thought I should write an article about my reaction to the news, as not that many people are diagnosed without being ill. I'll think about the article (where would it be published?), but expect this to be the first of several blog posts on the topic.

Initial reactions? Well, I suppose faint guilt that my brother died of it and I have it and am surviving so far. (He smoked for longer than I did, which is the likeliest reason for that.) I can't find it in me to blame my parents: clearly the dodgy gene was (is) common in the Portland population, which until a few generations ago was a typical island community with little external marriage. At the time I was conceived the condition hadn't been identified, and I don't know of any elderly relatives who clearly had it. What else? I'm still collecting odd things that are probably connected (my tendency to pick up chest infections in hospital, for example). The first time I read A1AD described as a "lethal inherited condition" I felt a bit like Scrooge being shown his tombstone. Some time later it occurred to me that, barring accidents, I know what I'm going to die from, which is a bit weird.

There's nothing much available by way of treatments, Three drugs are under trial which may prove useful, and a researcher recently reckoned we should expect a cure in ten years. Meanwhile, there's IV antitrypsin infusion if you're ill, and for the rest of us there are flu vaccinations every year and pnuemionia shots every five. Beyond that, healthy lifestyle, more exercise, positive attitude etc.

I'm due to get a spirometry (lung function) test on Wednesday, and am waiting on a consultation at the hospital's genetic medecine unit (who did the blood test). Hilary will accompany me to that, as we want to get her screened (if she isn't a carrier the children can't have A1AD themselves, though they are 100% certainly carriers) and they won't do that without previous counselling. Watch this space.

Meanwhile, today is Rare Diseases Day. Enjoy. Participate. A1AD may only just qualify as rare, but it could take some raising of its profile.

Finally, those familar with both my sense of humour and my liking for sloganned T-shirts will understand why one of my first reactions on hearing the news was to buy this.


At 28 February, 2011 04:55, Blogger Eddie Louise said...

Hey, wow! Don't know what to say, but we're thinking of you.

Hope Hilary's clear so the kids can know that they are ok.

We'll raise a glass in your honor! Keep us posted!

At 01 March, 2011 08:37, Anonymous Phil said...

Grim news.

You say "quite a lot of sufferers have only very mild symptoms"; is there a chance you'll continue to have very mild symptoms indefinitely, or until you're knocked down by a bus (aged 95)?

At 01 March, 2011 15:42, Blogger JoeinVegas said...

That might be a surprise to you, to end up hit by a bus. So don't assume you know where the end is coming from.
(sorry anyway)

At 09 March, 2011 00:56, Blogger Rob said...

Thanks for all the kind thoughts.

Phil: yes, there is. The illness isn't going away, but if I sort out my somewhat unhealthy lifestyle (less booze, more exercise, or maybe the other way round?) I could carry on without anything more than an asthma-type inhaler until the bus hits me. My wife did comment that if I took it as a lifestyle wake-up call I could end up living longer as a result of the diagnosis....

Joe - I know not to assume I know how I'd die, really. Even when you're right you can get surprises, as Macbeth found out when his shrubbery paid him a visit. (If I survived the bus I might not survive my immune system's repair attempts: my brother broke his hip and promptly died of pneumonia.) Anyway, I see my life as more The Seventh Seal than La Traviata right now (sadly I'm crap at chess).

At 11 March, 2011 13:29, Blogger Lisa Rullsenberg said...

Love, am sorry I hadn't picked up on your news earlier. But glad to see your humour is still strong. sending all our love


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