When I was much younger, and hadn't properly understood the how chromosomes combine at conception, I had thought that since I was physically very similar to my dad there was a much smaller chance that I would have inherited the condition (despite being told that it is 50/50).
I had several ideas in my head about how it might work, and I hadn't really appreciated that for each of my pairs of chromosomes one half came from my mum and the other from my dad. As we're looking for something that affects one half of one pair of chromosomes it becomes obvious that its 50/50 irrespective of any other observations.
These days I like to think that I dont take things at face value, and I always try to understand and explore the limits of my knowledge.
This blog records my journey to Hereditary Spastic Paraplegia (HSP, also known as Familial Spastic Paraparesis or FSP). I was diagnosed with SPG4 in 2009 when my wife became pregnant with our first child. I currently wear insoles, do daily stretches and weekly Pilates. I take medication for my bladder. I tweet about HSP, RareDisease and other things @munkee74.
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Sunday, 30 September 2012
Monday, 17 September 2012
Symptoms Update - Use it or Lose it
This post has been a couple of months in gestation. You may have noted that back in June we had a new arrival in the family. For the first few weeks back after my paternity leave I was taking our older son to and from nursery in the car and I opted out of pilates for a similar period. This meant that I did very little exercise for about 6 weeks.
At the end of the six week period I noticed that my legs felt stiffer. Particularly I found that sitting down and standing up were more tricky, with me 'flopping' down into my seat and having to lean forward to change my weight distribution/balance before standing up.
After this time I returned to cycling to work and re-commenced my pilates course, and after another 6-ish week period with my previous level of activity I now appear to be more or less back to where I was before.
Note to self - exercise is important, and I need to keep as active as possible to keep my mobility for as long as possible. On reflection, this is effectively what the neurologist said to me back in Feb 2010, so I'm pleased to be able to confirm that advice. http://hspjourney.blogspot.co.uk/2010/09/neurology.html.
I'm not sure why, but I had expected that the first muscle groups to go would be those in my lower leg, with my perception being that those would have the longest nerves. I'm certainly going to need to read some of the abstracts of those papers I've found for more info!
At the end of the six week period I noticed that my legs felt stiffer. Particularly I found that sitting down and standing up were more tricky, with me 'flopping' down into my seat and having to lean forward to change my weight distribution/balance before standing up.
After this time I returned to cycling to work and re-commenced my pilates course, and after another 6-ish week period with my previous level of activity I now appear to be more or less back to where I was before.
Note to self - exercise is important, and I need to keep as active as possible to keep my mobility for as long as possible. On reflection, this is effectively what the neurologist said to me back in Feb 2010, so I'm pleased to be able to confirm that advice. http://hspjourney.blogspot.co.uk/2010/09/neurology.html.
I'm not sure why, but I had expected that the first muscle groups to go would be those in my lower leg, with my perception being that those would have the longest nerves. I'm certainly going to need to read some of the abstracts of those papers I've found for more info!