New Years Resolutions

Merry Christmas.

Just a quick post to announce my new years resolutions. In 2011 I'm resolving to spend more time streching my leg muscles and concentrating on my posture.

Cheers!

Symptoms Update (tense leg muscles)

OK, so I've noticed over the last few weeks that when I stand still the muscles in the top half of my leg are tense, and I have to actively relax them.

I dont know if this is an HSP/FSP symptom or not, but it is different, and thought I'd mention it.

I notice this the most when I am standing still straight after walking, for example when I arrive at the kitchen to make a cup of tea at work.

Of course, I may notice this more and perhaps I can relax my muscles because I've been doing Pilates for a while now. I'd welcome any opinions on this.

Support Groups

OK, my first linky post...

There are a number of support groups and organisations that can help people with the condition:

UK: http://www.hspgroup.org/
Europe: http://www.hsp-info.eu/
USA: http://www.sp-foundation.org/
Australia: http://www.hspersunite.org.au/
Germany: http://www.hsp-info.de/

I've limited myself to those in English, and this is the result of only a brief web trawl. It is my intention to add links to medical and research sites in the future, but I'm happy to expand this list and would welcome links to any other support groups, in any language.

Some commonality

I was chatting with my mum the other day. She had been to see her physiotherapist, and was telling me about some of the exercises that she had been recommended to do - stomach crunches. This turns out to be quite similar to some of the exercises I do at Pilates, particularly going into imprint.

Whilst I'm pleased to find out that we're getting some degree of commonality from fairly separate areas (in different parts of the country too), I cant decide if I am surprised at this commonality or not.

Pilates to now

This post completes the 'historical' part of my blog with a quick update on Pilates. From now, I'll look into various aspects and issues to do with HSP/FSP and report on any interesting ones, along with any other relevant pages from my own story.

My Pilates instructor offered 'postural analysis' sessions a few months ago, which was very useful. We looked into my balance and posture, and identified some excercises to strech my (very tight) hamstrings and focussed on how I could adjust my posture to help.

Pilates

I had been playing Wii Fit, and hadn't enjoyed the yoga, so this favoured looking into Pilates, which I hadn't really got any understanding of. I was chatting with some friends who were also thinking of a Pilates course at their gym, and so we all signed up for a course.

I quite enjoy Pilates. Our instructor is good, and I am now much more aware of my posture, which of my muscles do what, and how to use them individually and together.

The big question is "has it helped?". Of course, I've not got a clone who is living my life without going to Pilates, but my perception is that when I have to miss a week or two it is more difficult when I return. It's all a bit marginal, but on balance I think that it helps me.

Neurology

After a few months getting used to our new son, and the changes to our family life, I made contact with the genetics team in order to look into the next stage. They recommended that I saw the neurologist, and a referral was made.

The appointment came through, and I went. The doctor observed me walking from the waiting area to the consulting rooms, and observed that I had a "mild bit of spasticity". Confirmation that I am starting to show some signs...

He checked my reflexes, muscles etc. and we discussed my lifestyle and potential plans going forward. He advised that keeping in shape and maintaining a regular exercise program was good, and observed that this was useful advice for anyone. We discussed stretching muscles and mobility, and he recommended going to either a yoga or pilates class.

New Arrival

So, after much waiting, and watching our unborn child growing, kicking and wriggling inside, our newest family member arrived, and turned out to be a lovely baby boy.

Intron 12

So, the test result came through. I am heterozygous for the C.[=]+[1493+2T>A] in intron 12 of the spast gene. Or, more simply, I am at risk of developing the condition.

My test report also tells me that there is an alternative nomenclature for this, C.1618+2T>A, but I dont really know what that means yet.

We discussed the test result with the genetics team, and that put various wheels in motion; for our unborn child - serious consideration of cord blood storage, and for myself - creating a plan to 'manage' the condition going fowards.

Given that we were, at this time, a couple of months from our expected delivery date, we decided to delay a referral to the neurologist until after our child was born, and we took the decision to get the cord blood stored privately.

Having The Test

Well, after the thinking comes the doing, and having made the decision to have the test, the next stage is (obviously) to have the test. The test is easy, a sample of blood is taken, and then sent away for analysis. I suspect the people who do the analysis do some very clever stuff, but from my perspective a sample of blood is easy. So, the sample was taken, and sent away.

Interestingly, in one of my conversations with the genetics team in the run up to the test, the consultant said that one examination that could be done was the tickling of ones feet, and having the condition could be inferred from the direction your toes point when being ticked (i.e. generally up or down). We didnt do this (and I havent yet done this myself), so I dont know which way my toes go and which way everyone elses go. But, the idea of tickling someones feet to find out if they have HSP is an interesting one.

Blue Sky Thinking

I've been keeping up to date with the world of FSP/HSP, although perhaps not as pro-actively as I should be given the family history. I know that, presently, there is no cure for the condition, and that there are no potential cures expected soon.

However, when I wear one of my more optimistic hats, I may expect that at some point in the future some kind of cure or treatment may be developed which might be of benefit to the next generation - i.e. my child.

There has been quite a bit in the press recently about developments with stem cells and genetic research, and my optimistic head joins this neatly with HSP in the future, either as a direct cure for the condition, or perhaps more generally a way to re-generate nerves (and I might reason that this kind of development might be more likely?)

One of the drivers for deciding to have the genetic test was being able to consider the possibility of having the blood from the umbilical cord stored for future use (at the birth, once our child is no longer using it, of course!) This blood is metaphorically "full" of stem cells, and having it in storage may be of benefit in the future.

OK, so there are a lot of unlikley things that need to happen together for this to come to fruition, but that's the background to one of the reasons for thinking about having the test.

The Big Decision

In the summer of 2008 we found out that my wife was pregnant. This presented us with a big question: Should I get a genetic test to find out if I have HSP? My wife and I discussed this with the good people at our local genetics team.

Pro's for having the test:
* We would know for sure if there was a chance that I could pass the condition to our baby.
* If I had the condition, I would be able to plan for the future.

Pro's for not having the test:
* Finding out that I have the condition may adversely affect my outlook on life (or at least certain aspects of it).
* Having a genetic test may adversely affect me financially, e.g. future insurance applications.

In the end, for me, the pro's for having the test won over the pro's for not having the test, and, after a little uncertainty, it was clear that I should be tested.

Early Symptoms?

I have asked myself on a fair number of occasions if I had inherited the condition over the years.

Times when I have decided that I must have inherited the condition are when I've been walking along and managed to 'trip up' on an otherwise perfectly flat surface. Effectively I've not been picking my feet up as much as I should. I think that I've been doing this on occasions since about the mid 1990's.

Times when I have decided that I've definitely not inherited the condition are when I've spent all day climbing or walking, or if I've been cycling and I've been really active.

Looking further back into my past, I've found it uncomfortable sitting on the floor with my legs crossed, and this has been the case since I've been at school. Also, I've never been able to touch my toes.

My History

So, HSP is hereditary. My mum has it, and she inherited it from her mum. Her two brothers, my uncles, also have it. Our family has contributed to HSP research, and we know that the gene mutation in our family is one of the ones that can be tested for.

I have known that there has been a chance that I inherited HSP from my mum and a chance that I have not. Up until recently I had been quite content knowing that the longer I went without showing any symptoms, the more likely it was that I had not inherited the condition.

As a boy I went to scouts and enjoyed walking in the hills, particularly the Lake District, and cycling has been one of my regular forms of exercise, enjoyable as well. I had had the opportunity to go walking most years, and went to the Lakes most years between about 1989 and 2003. Quick plug for the Coledale in Braithwaite.

I got married in 2007, and we found out in the summer of 2008 that we were expecting a baby.