JON: A few weeks ago, I had a spot of masochistic fun. We got up ridiculously early and drove to Copenhagen where I had the delightful experience of a lumbar puncture. I’ve had one before so I know what I’m talking about when I say that this one was very professionally done. Although it involved me sitting rather inelegantly on a chair bent over to touch my toes (to separate my vertebrae and make room for a l-a-r-g-e needle), the doctor managed to make the procedure pain free by distracting me with old jokes and a bit of banter.
All was well, at least until I got in the car to go home, where to my modest surprise the anesthetic began to wear off and my back started to hurt. Only hurt a bit, though, just enough to give me something to complain about on the long drive.
We’ll probably not get the results until my next appointment in three weeks’ time – a clear case of no news being better than urgent news, as I’m sure I would have heard if they’d found little green men discussing Nietsche in my spinal fluid. We’re not entirely sure why I had the test in the first place, actually. When Marie asked what the neurologist is looking for, there was mumbling about ‘something something tau’ which means little to us or the internet. Oh well, if there’s anything to discover, you’ll hear it here first.
From the Dept. of Good News, section Relief, come glad tidings on my genetic status. The company http://www.23andme.com/ does genetic testing to determine whether you have an increased risk of developing a number of diseases, including Parkinson’s and Alzheimer’s. This costs money, but they have (had?) a special offer for Parkies who can get the testing done free, in return for answering numerous questions for research purposes about your medical history, your drink and drug habits, your favourite colour, etc. Free is a good price, so I applied (or rather, Marie applied pretending to be me). On my part, the most arduous task involved gobbing into a plastic tube for intercontinental dispatch.
My results came back recently and show NO increased genetic risk of either PD or Alz. That doesn’t make me move any better or think any quicker, but it does stop me fretting that I’ve passed on dud genes to my children and grandchildren. There will be dancing in the streets – or there would be if I could dance. Have I ever shown you my version of the moonwalk?
Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts
11 January 2012
24 May 2009
Why me?
In some of the blogs we follow and in several of the autobiographies we have read, people with PD struggle with the question ‘Why me? What did I do to deserve this? Is this some kind of punishment or test?’ There is clearly a religious element to these questions, an idea of a supreme will or organizing principle that ensures we each get what is coming to us. The faithful may leap intellectual hurdles and engage in logical contortions in order to explain why their god would put them through something like Parkinson’s, and yet come up with an answer that neither satisfies nor enlightens.
Jon and I, though, are strict atheists. We are quite convinced there is no higher intelligence up there (or, indeed, down there) which takes a particular interest in us. Jon hasn’t got Parkinson’s because he’s been a bad boy, and I haven’t got a sick husband because my soul is ripe for trial by fire. So why Jon? Because shit happens, and that is essentially all there is to it.
However, there is also the scientific question ‘why me?’ which has a hard time with the idea of idiopathic Parkinson’s, i.e. the version of the disease that is not hereditary or caused by drugs. Parkinson’s without a cause? Come off it. Of course there’s a cause, we just haven’t discovered it yet. There is a great deal of research going into discovering what causes Parkinson’s-without-a-cause, with various genes being singled out as possible areas of weakness, and various chemicals suspected of being contributory triggers. This is evidently highly complicated stuff and the answer likely to be equally complex, an extreme example of Occam’s lady shaver.
A scientist in a programme we saw explained that he and his colleagues think the answer involves some people being genetically vulnerable to developing Parkinson’s, but that they only actually become ill if the disease is sparked off by some outside influence – in other words, he said, ‘genes load the gun, but environment pulls the trigger’. Finding out what causes Parkinson’s would evidently be immensely helpful in the effort to prevent or cure the disease, instead of being stuck with just treating it as we are now.
Scientists are, in one important sense at least, professional optimists. They have to find financial support for their research projects by convincing superiors and research councils and charitable foundations that their work will lead to significant advances towards some desirable goal. I suspect this could be the real reason that every book about Parkinson’s we have ever read, no matter when it was published, predicts that we are only about five years away from a major breakthrough in treatment or cure. Sooner or later it will be true. Wouldn’t it be great if that turns out to be 4 ½ years ago?
Jon and I, though, are strict atheists. We are quite convinced there is no higher intelligence up there (or, indeed, down there) which takes a particular interest in us. Jon hasn’t got Parkinson’s because he’s been a bad boy, and I haven’t got a sick husband because my soul is ripe for trial by fire. So why Jon? Because shit happens, and that is essentially all there is to it.
However, there is also the scientific question ‘why me?’ which has a hard time with the idea of idiopathic Parkinson’s, i.e. the version of the disease that is not hereditary or caused by drugs. Parkinson’s without a cause? Come off it. Of course there’s a cause, we just haven’t discovered it yet. There is a great deal of research going into discovering what causes Parkinson’s-without-a-cause, with various genes being singled out as possible areas of weakness, and various chemicals suspected of being contributory triggers. This is evidently highly complicated stuff and the answer likely to be equally complex, an extreme example of Occam’s lady shaver.
A scientist in a programme we saw explained that he and his colleagues think the answer involves some people being genetically vulnerable to developing Parkinson’s, but that they only actually become ill if the disease is sparked off by some outside influence – in other words, he said, ‘genes load the gun, but environment pulls the trigger’. Finding out what causes Parkinson’s would evidently be immensely helpful in the effort to prevent or cure the disease, instead of being stuck with just treating it as we are now.
Scientists are, in one important sense at least, professional optimists. They have to find financial support for their research projects by convincing superiors and research councils and charitable foundations that their work will lead to significant advances towards some desirable goal. I suspect this could be the real reason that every book about Parkinson’s we have ever read, no matter when it was published, predicts that we are only about five years away from a major breakthrough in treatment or cure. Sooner or later it will be true. Wouldn’t it be great if that turns out to be 4 ½ years ago?
01 June 2008
Big questions
Back from my trip to the UK to see my daughter, son, daughter-in-law, son-in-law, granddaughter and grandson – one of each and all bases covered. The family is a veritable melting pot of multicultural diversity: my first wife, mother of my children, is the only English person in the room. I’m half German and half German-Jewish, one in-law is Scandinavian (as is my wife) the other is second-generation Indian, partly via Kenya. This makes my grandchildren Indian/German/Hindu/Jewish/CofE/British – apparently a perfect and harmonious mix, but their DNA must be very tightly coiled.
The point of all this, though, is the depressing question of whether PD is genetic. PD that is not caused by an identifiable outside influence such as drugs or encephalitis is called idiopathic (from Greek idios=own and pathos=disease). That indicates a totally random eeny-meeny-MEAN kind of personal bad luck, but many doctors and sufferers believe that there is also an element of genetics involved (and of environmental influence too). I actually have an uncle with PD, which is worrying – because if there is any truth in the idea that PD is partly genetically determined, that means I may have passed on dud genes to my kids and grandkids. I don’t want to think about that (so I do).
I’m carrying on with my new pill regime for the second week, i.e. more Sifrol plus also one small anti-depressant each night to help me sleep. I need the help, but I’m also getting quite worrying side effects. Thus, before we left for the UK Marie had to prevent me going for walk in garden – naked at 3:00 am, after attempting to lift the garden door off its hinges. Another night I freaked out the cat when I went on a search for “air bears” in living room. I also have vivid dreams, for instance of buying a new house and having to piss in sink because there is no loo there – so vivid that I checked the sink next time I woke. It looked wet but not yellow, but I rinsed it anyway …
I’m told that these side effects will wear off after a week or three. And they better bloody had, because an unpleasant scenario is unfolding at work. Monday Boss asks me to write a simple bit of software. I confidently say OK, I will have it done for him by Thursday, because it really was a trivial bit of coding. But the snag is I am hung over from the new pills, so Friday rolls round and I have to admit to Boss and myself that I have failed to come up with the code. Together we decide to send me home sick until mind and body have improved. Boss understands the difference between health problems that are caused directly by the PD progressing, and health problems that are secondary or unrelated, and therefore potentially curable/reversible. My reaction to the new drugs is in the second category.
But for me, THE BIG QUESTION is: can I actually still write a simple program? I feel my head clearing somewhat, but the world seems to be seen through a dark glass. I used to do this work all the time, and I’m starting to panic that perhaps now I can’t (and the panic obviously isn’t making the task any easier). The books say that about 30% of PD sufferers develop some cognitive impairment, but how can you tell? What is PD and what is a normal process of getting older and slower and less able to learn new skills? A good friend of mine who was at least as good at programming as I stopped years ago because he just found it harder and harder to learn each new version of software. Is that what is happening to me, or is it something more sinister? If I look on the bleakly black side then
* I’m not reading as much or to the level I used to
* Driving has become a nerve-wracking task – though I’m safe because I’m scared
* Senior moments are getting more frequent and my short term memory is rubbish
* I could not sort out setting up this blog but needed help from #2, and before it has always been her who needed help from me with IT
* Finding the correct word is getting difficult – apparently a very common symptom of PD, but worrying nonetheless. It gives a sensation of time dilation where it seems like half a minute ticks by before the word comes to me, whereas others say it is really just a brief pause. Often I cope by walking away, and Marie pretends to ignore the pauses.
Have you seen Flowers for Algernon? A fine (SF) book and later film in which our hero starts out stupid, achieves a high level of intelligence helped by drugs, and then while fully aware of his plight looses it all, reverting to stupid. It always makes me cry.
Anyway, what this probably is, is a clear demonstration that a little learning is a dangerous thing. Between us, Marie and I have five degrees and every book on PD we could find on Amazon. I can tell you with some confidence that it is not a good idea to read all of them in one go, it will set off severe hypochondria in the most well-adjusted person – which I am not, so there’s my excuse.
The point of all this, though, is the depressing question of whether PD is genetic. PD that is not caused by an identifiable outside influence such as drugs or encephalitis is called idiopathic (from Greek idios=own and pathos=disease). That indicates a totally random eeny-meeny-MEAN kind of personal bad luck, but many doctors and sufferers believe that there is also an element of genetics involved (and of environmental influence too). I actually have an uncle with PD, which is worrying – because if there is any truth in the idea that PD is partly genetically determined, that means I may have passed on dud genes to my kids and grandkids. I don’t want to think about that (so I do).
I’m carrying on with my new pill regime for the second week, i.e. more Sifrol plus also one small anti-depressant each night to help me sleep. I need the help, but I’m also getting quite worrying side effects. Thus, before we left for the UK Marie had to prevent me going for walk in garden – naked at 3:00 am, after attempting to lift the garden door off its hinges. Another night I freaked out the cat when I went on a search for “air bears” in living room. I also have vivid dreams, for instance of buying a new house and having to piss in sink because there is no loo there – so vivid that I checked the sink next time I woke. It looked wet but not yellow, but I rinsed it anyway …
I’m told that these side effects will wear off after a week or three. And they better bloody had, because an unpleasant scenario is unfolding at work. Monday Boss asks me to write a simple bit of software. I confidently say OK, I will have it done for him by Thursday, because it really was a trivial bit of coding. But the snag is I am hung over from the new pills, so Friday rolls round and I have to admit to Boss and myself that I have failed to come up with the code. Together we decide to send me home sick until mind and body have improved. Boss understands the difference between health problems that are caused directly by the PD progressing, and health problems that are secondary or unrelated, and therefore potentially curable/reversible. My reaction to the new drugs is in the second category.
But for me, THE BIG QUESTION is: can I actually still write a simple program? I feel my head clearing somewhat, but the world seems to be seen through a dark glass. I used to do this work all the time, and I’m starting to panic that perhaps now I can’t (and the panic obviously isn’t making the task any easier). The books say that about 30% of PD sufferers develop some cognitive impairment, but how can you tell? What is PD and what is a normal process of getting older and slower and less able to learn new skills? A good friend of mine who was at least as good at programming as I stopped years ago because he just found it harder and harder to learn each new version of software. Is that what is happening to me, or is it something more sinister? If I look on the bleakly black side then
* I’m not reading as much or to the level I used to
* Driving has become a nerve-wracking task – though I’m safe because I’m scared
* Senior moments are getting more frequent and my short term memory is rubbish
* I could not sort out setting up this blog but needed help from #2, and before it has always been her who needed help from me with IT
* Finding the correct word is getting difficult – apparently a very common symptom of PD, but worrying nonetheless. It gives a sensation of time dilation where it seems like half a minute ticks by before the word comes to me, whereas others say it is really just a brief pause. Often I cope by walking away, and Marie pretends to ignore the pauses.
Have you seen Flowers for Algernon? A fine (SF) book and later film in which our hero starts out stupid, achieves a high level of intelligence helped by drugs, and then while fully aware of his plight looses it all, reverting to stupid. It always makes me cry.
Anyway, what this probably is, is a clear demonstration that a little learning is a dangerous thing. Between us, Marie and I have five degrees and every book on PD we could find on Amazon. I can tell you with some confidence that it is not a good idea to read all of them in one go, it will set off severe hypochondria in the most well-adjusted person – which I am not, so there’s my excuse.
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