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My name is Neil, and I am 46 years old. I amm piZZ, but had no idea until last year. I never showed any signs at all during infancy or childhood – at least, none that physicians at the time would’ve been able to connect with AATD.
The initial signs came in 2003 while fixing a roof at a friend’s cottage in France. I put my breathlessness down to fitness, and – aside from vowing to get fit – ignored it.
In Jan 2008, I gave up smoking – but noticed in Dec that my breathlessness had not improved at all. Neither had my fitness though, so again I ignored it, until...
A winter cold in 2008/09 still hadn’t gone over a month later, and my wife urged me to have it checked out by my GP. Then followed the trail of discovery, shock, fear, sadness, anger and eventual enlightenment.
GP noticed my liver enzymes were high – asked if I drank a lot. Which I don’t! That was the first clue.
GP ran loads of tests, but ultimately didn’t know. He had the foresight to refer me to a Respiratory Consultant at my local hospital. In the meantime, my GP put me on Salbutamol ‘as a test’ – to see if it helped.
The Respiratory Consultant ran various lung function tests, and diagnosed COPD. That diagnosis alone had me in tears. I was prescribed Spiriva Respimat, and a kindly nurse showed me how to take it properly – though I will confess I was in a blur by then. As I was leaving, he suggested – almost in passing - that he do a genetic test for Alpha1 Antitrypsin Deficiency, and told me that it was probably nothing, and less than 2% of the population had it. I thought nothing of it, and said yes.
Several weeks later, the results came back via my GP – and of course, turned out to be positive. I was identified as a piZZ Alpha sufferer – and although this was a great shock to me, I had already been educating myself. I’d received a letter some days before, asking me to attend the GP’s surgery to discuss the results – and I’d already figured out that he wouldn’t have asked me in, if the results weren’t positive! So I’d been genning up on AATD via the internet, and already had a fair idea of what it entailed.
I was given a liver ultrasound test, which thankfully came back okay, and had a chat with my Respiratory Consultant again – but nothing new was really mentioned that I hadn’t already figured out for myself, or through my conversations with the people at Alpha1 Awareness, whom my wife had fortuitously discovered on the internet only a few days after my diagnosis.
The worst discovery was the fact that in the UK, there is practically nothing that can be done, and the NHS really doesn’t differentiate Alpha1 treatment from COPD treatment until such time as things start falling apart. When livers go, or lungs give up, then, and only then, will they really do stuff – but it was evident right from the off that in the UK, there is no course of ‘mitigation’ or ‘stabilisation’ that might stop the condition from progressing. In short, we’re pretty much left to get on with things, and hope for the best.
Six months later, at a second lung function test, I had Symbicort added to my line-up of kazoos, on the advice of my Respiratory Consultant. This pleased me, because I’d read up about the ‘three’ being about the best combination that’d been discovered so far, in terms of the cheap end of treatment.
I had also discovered the ADAPT centre in Birmingham and laboured under the misapprehension for a while that they were the part of the NHS, and the place I could expect treatment. I went for an interview, and various things were said about trials and baseline tests, but over a year later, nothing much has happened – I’ve never even been asked back for my promised baseline tests – and it dawned on me that ADAPT wasn’t really anything to do with the NHS at all, and is instead a pet research project which cherry-picks interesting cases, and has no primary care responsibility at all. Disappointing, to say the least.
Of all the things I’ve discovered about Alpha, now that I’ve come to terms with the condition, the thing that annoys me the most, is the realisation that the UK is a third world country when it comes to Augmentation Therapy. We seem to spend millions testing it, but never seem to come up with conclusive results that prove it works – yet half of Europe and America has already long-since decided that it is of value, and prescribe it to their Alphas. Yes, it is expensive – but then so is the Friday and Saturday night alcohol –fuelled, self-inflicted mass triage that happens in A&E across the UK every week! That’s money we choose to waste – but I didn’t choose Alpha, and have no choice about the lack of treatment!
As a patient, I would URGE the UK’s NHS to introduce heel-prick screening at birth – I was lucky – I never showed symptoms of my piZZ until age 45, but that’s not the point. It’s still essential for us to know the level of instance of Alpha in the country, and many must go entirely undiagnosed currently. If I’d been aware when younger, I would definitely NOT have smoked. Hindsight is 20-20! But let’s not leave it till 2020 before we start heel-prick tests!
Secondly – the UK really needs to introduce Augmentation Therapy. We are lagging behind our European neighbours to an extent that is disgraceful. The costs may be high, but are Alphas less deserving than the binge-drinkers who fill up the hospitals every weekend? I think not.
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