It's five o'clock in the morning and I've been awake since three, one of the more discombobulating dimensions of international travel. But before you get the wrong end of the stick and feel that I'm about to parade a sundrenched holiday in the Seychelles before you, let me assure you this is business.
I'm here in Montréal for the Third World Parkinson Congress, a triennial gathering of all the great and the good in the fields of Parkinson's. That's everybody from the top professors down to, well, us lot in the trenches – people with Parkinson's. It' a time when the entire. community pulls together. The congresses are infrequent enough that each is special yet still sufficiently closely spaced that delegates remember each other's names from previous encounters. Rather like a shaky version of Oberammergau I imagine.
It's fair to say that I have never been so excited about a scientific meeting before. Not even when I was an active scientist rather than the muttering Brando-esque "I could've been a contender" figure you see today.
The last meeting in Glasgow was life changing and to be honest I think people expect nothing less from this one.
But this meeting is different from its forerunners. I've only been here a matter of hours but there is already the feeling of something in the air, the notion that something is going to happen . Nobody is sure what. Just something.
Will it be a new scientific breakthrough announced? Maybe some huge new understanding of the pathology of Parkinson's? Or perhaps a greater communication between the patients and scientists of what it is like to experience this condition? Nobody knows yet. But that buzz is definitely in the air. And the sense that maybe, just maybe, we the patients will leave this congress with genuine scientifically-founded cause for optimism rather than blind hope. Would that be too much to ask?
Monday, 30 September 2013
Monday, 23 September 2013
The gene genie (Part 1)
When it comes to genetics, there really is nowhere to hide. Your genes speak more eloquently about you than a Times obituary. Everything that makes you you and me me (sorry, this sounds like a giant panda mating) is encoded in our genes. They can even make educated guesses on how we live and die.
As my regular readers know, I have had Parkinson's for the last seven years. I was diagnosed at the age of 49 which, although not in any way unique, is still a relatively young age. Young enough that you might reasonably suspect some predisposing factor to be at play. Such as genetics for instance.
Over the last decade or so, we've learnt a lot about genetic involvement in Parkinson's. Although the overwhelming majority of cases are classed as idiopathic, a fancy word meaning that we don't know the exact cause, a small proportion are less enigmatic. In a small proportion of cases, there is one or more genetic risk factors.
Current thinking, and I won't bore you with the scientific details here, suggests that there is somewhere in the region of 15 separate genes where mutations will increase the risk of developing Parkinson's or speed its progression. In the worst cases, mutant genes can treble the odds of developing Parkinson's. The resulting conditions are, in essence, forms of genetic Parkinson's. As I said, these subtypes are rare, affecting only the small proportion of people. But this proportion of genetic Parkinson's is higher among the young onset group of.
Now I don't delude myself for one second that forty nine is young or in any way in the first flush of youth. But it still, if I'm honest, rankles that I should have got Parkinson's ahead of the crowd. Let's face it -- this is not a queue that anyone wants to jump. So, at the back of my mind is the thought that there might be some genetic component to my Parkinson's.
Maybe, I reason, I have one of the genetic forms. The odds are against it but it is the least possible.
Does it matter? Well, in the grand scheme of things and if I was the only person concerned, it probably doesn't. You shrug your shoulders and get back to the Times crossword.
But it isn't just me. Genetics in this context touches two important aspects of life -- the genes that we receive from our parents, and the genes we pass on to our children. And to put the thing in a nutshell, my biggest worry is not whether I have a genetic form of Parkinson's. It's the kids.
When I 'came out' about my Parkinson's, all the children separately asked two questions:
"Are you going to die?"
"Will I get it?"
The first one is easy, maybe too easy. No, the Parkinson's will shorten my lifespan a little and certainly make it rather more challenging, but it will not kill me directly, at least not over the kind of timeframe they feared.
The second question is harder to answer and, in the absence of any definitive reply, I trotted out the old statistics -- that fewer than one in 10 have a genetic form of Parkinson's and therefore a form that can be inherited. In other words, it was highly unlikely that they would 'catch' Parkinson's from me.
For a long time that seemed a satisfactory response. Either the children were satisfied or wanted to be satisfied. Or reassured. And in 2006, that seemed a reasonable position to take.
But that's the problem with truth -- it's an absolute. Truth doesn't deal in probabilities. At the end of the day 'highly unlikely' is not the same as 'definitely not'.
And truth gnaws.
What starts out as a vague feeling that it would be nice to know one way or the other becomes, in the fullness of time, an overwhelming need to be certain. A need to find unequivocal reassurance or to know with certainty how deep is the abyss.
I've always believed in serendipity. And I was thinking on the subject of genetic testing a couple of months ago when I stumbled across an ad for 23andme. As many know, they offer a service, for a price, that will tease your genome apart and look for these dodgy genes, in amongst the other genetic dross of course.
The service comes to around £100 per genome, the price of three quarters of a tank of petrol for the Jag, a week's shopping or maybe a dozen CDs. So, in relation to the amount of information to be gathered, a trifling sum. And such is the speed of progress in this field of science that projects to sequence the entire human genome, initiated in 1990, were projected to take around 15 years and cost about as much in real terms as putting a man on the moon. It tied up huge research laboratories and occupied some of the finest minds in science for a decade. It was Big Science.
Now, a little over a decade after the sequence was announced, the technology exists to offer it as a simple test, in the same way you would test blood cholesterol for instance. Even as little as five years ago this would have necessitated a second mortgage. The speed of progress is breathtaking. And at the risk of sounding like a commercial, it's piffly easy. The company sends a plastic container, you spit in it, seal it and send it back to them. 4 to 6 weeks later, you get an e-mail saying your results are available online. And you also receive a much longer preparatory explanation to the effect that this is big league stuff. You might not like the answers provided by your genes. It's a case of 'open at your own peril'. And bearing in mind that we are potentially looking at life changing illnesses, the caveat is probably necessarily sobering.
There is no counselling offered. Nothing to sweeten the pill if necessary. You are very much on your own. They say as much.
My e-mail arrived three weeks ago. I read the disclaimer and thought for a second or two whether to login or not. What would the report show? Was I even remotely prepared?
In any case, you can never get the genie back in the bottle.
I took a gulp of coffee and clicked the link.
[Check into the next blog to read about the results].
As my regular readers know, I have had Parkinson's for the last seven years. I was diagnosed at the age of 49 which, although not in any way unique, is still a relatively young age. Young enough that you might reasonably suspect some predisposing factor to be at play. Such as genetics for instance.
Over the last decade or so, we've learnt a lot about genetic involvement in Parkinson's. Although the overwhelming majority of cases are classed as idiopathic, a fancy word meaning that we don't know the exact cause, a small proportion are less enigmatic. In a small proportion of cases, there is one or more genetic risk factors.
Current thinking, and I won't bore you with the scientific details here, suggests that there is somewhere in the region of 15 separate genes where mutations will increase the risk of developing Parkinson's or speed its progression. In the worst cases, mutant genes can treble the odds of developing Parkinson's. The resulting conditions are, in essence, forms of genetic Parkinson's. As I said, these subtypes are rare, affecting only the small proportion of people. But this proportion of genetic Parkinson's is higher among the young onset group of.
Now I don't delude myself for one second that forty nine is young or in any way in the first flush of youth. But it still, if I'm honest, rankles that I should have got Parkinson's ahead of the crowd. Let's face it -- this is not a queue that anyone wants to jump. So, at the back of my mind is the thought that there might be some genetic component to my Parkinson's.
Maybe, I reason, I have one of the genetic forms. The odds are against it but it is the least possible.
Does it matter? Well, in the grand scheme of things and if I was the only person concerned, it probably doesn't. You shrug your shoulders and get back to the Times crossword.
But it isn't just me. Genetics in this context touches two important aspects of life -- the genes that we receive from our parents, and the genes we pass on to our children. And to put the thing in a nutshell, my biggest worry is not whether I have a genetic form of Parkinson's. It's the kids.
When I 'came out' about my Parkinson's, all the children separately asked two questions:
"Are you going to die?"
"Will I get it?"
The first one is easy, maybe too easy. No, the Parkinson's will shorten my lifespan a little and certainly make it rather more challenging, but it will not kill me directly, at least not over the kind of timeframe they feared.
The second question is harder to answer and, in the absence of any definitive reply, I trotted out the old statistics -- that fewer than one in 10 have a genetic form of Parkinson's and therefore a form that can be inherited. In other words, it was highly unlikely that they would 'catch' Parkinson's from me.
For a long time that seemed a satisfactory response. Either the children were satisfied or wanted to be satisfied. Or reassured. And in 2006, that seemed a reasonable position to take.
But that's the problem with truth -- it's an absolute. Truth doesn't deal in probabilities. At the end of the day 'highly unlikely' is not the same as 'definitely not'.
And truth gnaws.
What starts out as a vague feeling that it would be nice to know one way or the other becomes, in the fullness of time, an overwhelming need to be certain. A need to find unequivocal reassurance or to know with certainty how deep is the abyss.
I've always believed in serendipity. And I was thinking on the subject of genetic testing a couple of months ago when I stumbled across an ad for 23andme. As many know, they offer a service, for a price, that will tease your genome apart and look for these dodgy genes, in amongst the other genetic dross of course.
The service comes to around £100 per genome, the price of three quarters of a tank of petrol for the Jag, a week's shopping or maybe a dozen CDs. So, in relation to the amount of information to be gathered, a trifling sum. And such is the speed of progress in this field of science that projects to sequence the entire human genome, initiated in 1990, were projected to take around 15 years and cost about as much in real terms as putting a man on the moon. It tied up huge research laboratories and occupied some of the finest minds in science for a decade. It was Big Science.
Now, a little over a decade after the sequence was announced, the technology exists to offer it as a simple test, in the same way you would test blood cholesterol for instance. Even as little as five years ago this would have necessitated a second mortgage. The speed of progress is breathtaking. And at the risk of sounding like a commercial, it's piffly easy. The company sends a plastic container, you spit in it, seal it and send it back to them. 4 to 6 weeks later, you get an e-mail saying your results are available online. And you also receive a much longer preparatory explanation to the effect that this is big league stuff. You might not like the answers provided by your genes. It's a case of 'open at your own peril'. And bearing in mind that we are potentially looking at life changing illnesses, the caveat is probably necessarily sobering.
There is no counselling offered. Nothing to sweeten the pill if necessary. You are very much on your own. They say as much.
My e-mail arrived three weeks ago. I read the disclaimer and thought for a second or two whether to login or not. What would the report show? Was I even remotely prepared?
In any case, you can never get the genie back in the bottle.
I took a gulp of coffee and clicked the link.
[Check into the next blog to read about the results].
Thursday, 5 September 2013
It's a jungle
Ocean waves or tropical rainforest?
And no, this is not the first question asked by the family to help triage potential holiday destinations. Nor is it the kind of fanciful name popular with shampoo manufacturers. Nor even one of those "if you can only save one of these, which would it be?" questions so popular with bearded environmentalists. Having said that, I should tread carefully since many of my friends are indeed bearded environmentalists. And that's just the girls.
Joking! You know I'm joking -- don't give me that look.
Anyway, having managed to alienate half my friends within the first paragraph, let me try to entertain those that still tarry. Eventually of course I shall find there is nobody left to offend. Will the last reader to leave please switch off the lights.
I sleep very badly. This has been a problem for nigh on a year now. Without bandying needless statistics, it's estimated that perhaps three quarters of all people with Parkinson's have disrupted sleep in some form or another. So I'm not alone. Nor am I alone in seeking nonpharmacological solutions to the problem (nonpharmacological just means no drugs, but why use two syllables when seven will do).
My friend Cloud had an idea. And no, that's not her given name in case you were wondering. Were she born in the 60s, such a thing would be understandable. This after all was a time when every other child was called Butterfly, Pixie, Moon Shadow, or Unicorn Tears. Cloud was born three decades later, when girls were Jessica, Ashley, Brittany, Kayla or Courtney. But I digress.
Cloud suggested something called an iPillow or similar. Now I've tried all sorts of pillows beneath the Stamford bonce -- neck support, orthopaedic, memory foam, etc. None work for me. But the iPillow is different. It has a speaker and plays subliminal environmental sounds while you rest. These sounds, Cloud told me earnestly and with a much straighter face than I expected, could be waves crashing on the beach or the sound of birds in a tropical rainforest.
As regular readers will know, this is exactly the kind of product that raises my hackles. Normally I would have dismissed it out of hand with a withering arch of the eyebrow. But on this occasion, and it is probably a mark of my desperation, I decided to look into it. When I found one on Amazon, reduced by 60% but accompanied by five-star reviews, I took the plunge.
The said iPillow arrived yesterday afternoon. The thing is easy enough to use and with the investment of a further 69 pence on a CD of restful sounds that I could loop all night, I went to bed in optimistic mood.
"What exactly is that, Dad?" asked Alice with the same arched eyebrow. I explained the theory about restful sleep as the eyebrow headed further north.
"Okay" I said "which should I play -- waves on the shore or tropical rainforest noises?"
"Well if you play the rainforest stuff, you'll spend the whole night listening out for jaguars and anacondas...." she said.
"Then beach sounds it is" I said.
"As long as you're not afraid of sharks" she smiled
I checked the label on the Tranquil Nature Sounds for Meditation CD. It said nothing about listeners being crushed to death by snakes or devoured by sharks. I decided to chance it with the "Bird Calls in the Jungle" track. After first checking under the bed for predatory wildlife....
I woke up this morning at my usual hour -- around 4:30 am. But this time I managed to get back to sleep to add a further two and a half hours to my tally. I was impressed by how realistic the sounds were. And somehow transmitted through the depths of the pillow, they were softened too. The soundtrack itself had everything -- parrots, monkeys, and any number of insects. The mosquitoes were particularly realistic. They could have been in the room with me.
Only as I pulled on my pants did I realise that the mozzies were more than just realistic. A long trail of reddened blotches bore witness to their presence.
I counted the bites. Seventeen.
I've been eaten alive..
And no, this is not the first question asked by the family to help triage potential holiday destinations. Nor is it the kind of fanciful name popular with shampoo manufacturers. Nor even one of those "if you can only save one of these, which would it be?" questions so popular with bearded environmentalists. Having said that, I should tread carefully since many of my friends are indeed bearded environmentalists. And that's just the girls.
Joking! You know I'm joking -- don't give me that look.
Anyway, having managed to alienate half my friends within the first paragraph, let me try to entertain those that still tarry. Eventually of course I shall find there is nobody left to offend. Will the last reader to leave please switch off the lights.
I sleep very badly. This has been a problem for nigh on a year now. Without bandying needless statistics, it's estimated that perhaps three quarters of all people with Parkinson's have disrupted sleep in some form or another. So I'm not alone. Nor am I alone in seeking nonpharmacological solutions to the problem (nonpharmacological just means no drugs, but why use two syllables when seven will do).
My friend Cloud had an idea. And no, that's not her given name in case you were wondering. Were she born in the 60s, such a thing would be understandable. This after all was a time when every other child was called Butterfly, Pixie, Moon Shadow, or Unicorn Tears. Cloud was born three decades later, when girls were Jessica, Ashley, Brittany, Kayla or Courtney. But I digress.
Cloud suggested something called an iPillow or similar. Now I've tried all sorts of pillows beneath the Stamford bonce -- neck support, orthopaedic, memory foam, etc. None work for me. But the iPillow is different. It has a speaker and plays subliminal environmental sounds while you rest. These sounds, Cloud told me earnestly and with a much straighter face than I expected, could be waves crashing on the beach or the sound of birds in a tropical rainforest.
As regular readers will know, this is exactly the kind of product that raises my hackles. Normally I would have dismissed it out of hand with a withering arch of the eyebrow. But on this occasion, and it is probably a mark of my desperation, I decided to look into it. When I found one on Amazon, reduced by 60% but accompanied by five-star reviews, I took the plunge.
The said iPillow arrived yesterday afternoon. The thing is easy enough to use and with the investment of a further 69 pence on a CD of restful sounds that I could loop all night, I went to bed in optimistic mood.
"What exactly is that, Dad?" asked Alice with the same arched eyebrow. I explained the theory about restful sleep as the eyebrow headed further north.
"Okay" I said "which should I play -- waves on the shore or tropical rainforest noises?"
"Well if you play the rainforest stuff, you'll spend the whole night listening out for jaguars and anacondas...." she said.
"Then beach sounds it is" I said.
"As long as you're not afraid of sharks" she smiled
I checked the label on the Tranquil Nature Sounds for Meditation CD. It said nothing about listeners being crushed to death by snakes or devoured by sharks. I decided to chance it with the "Bird Calls in the Jungle" track. After first checking under the bed for predatory wildlife....
I woke up this morning at my usual hour -- around 4:30 am. But this time I managed to get back to sleep to add a further two and a half hours to my tally. I was impressed by how realistic the sounds were. And somehow transmitted through the depths of the pillow, they were softened too. The soundtrack itself had everything -- parrots, monkeys, and any number of insects. The mosquitoes were particularly realistic. They could have been in the room with me.
Only as I pulled on my pants did I realise that the mozzies were more than just realistic. A long trail of reddened blotches bore witness to their presence.
I counted the bites. Seventeen.
I've been eaten alive..
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