Review of 2013

Another year has passed and its time to reflect on things and consider how different things have become over the year.

Knowledge
This has been a bit of a mixed year on the knowledge front. I had spotted that some of the most frequently viewed posts related to HSP symptoms, and I've done some investigation here. I also met with Evan Reid and went to the HSP support group AGM getting lots of information there, and also various new connections made with lots of avenues to explore. I've not been looking too much at the PubMed database this year. Perhaps I'll chalk 2013 up as a connections year rather than a knowledge year.

Symptoms
Looking back at my 'symptoms update' posts I can see this year has been mainly about getting more stiff and finding certain things more difficult to do than before. I also have been spotting some issues on the bowel/bladder front. I speculated that this might be the start of bigger/quicker changes.

This Blog
I 'came out' on rare disease day (Feb 28) and joined up my various on-line presences. I've been more active in talking about what I have been blogging about, and indeed more people are reading this. Thanks!

Authoring
Following my posts on the UK HSP Support Group AGM I've been asked to regularly write for the newsletter, which is an honour to do.

Survey
I also launched my first on-line survey, which has had many (over 120) responses, and I'm looking forward to analysing the responses early in 2014. The survey will be back in the Autumn.

Other things like the filming project and the gradual expansion of pages on the blog have taken a bit of a back seat in the year partly as a consequence of this, and partly due to being busy with my young family and busy at work.

Another outlet for my messàge, communities update

The other week I met up with Ian Bennett of the UK HSP support group. Ian has asked me to write a regular feature in the newsletter, covering the medical side of things. I was pleased to accept. Effectively, this will partly be a re-write of some of the things I have already written, and mostly a write of things I haven't yet found!

Towards the end of November I signed up for the patientslikeme website. I quite like the tracking tools they give you. I had been trying to find an app to allow me to track these things, but that didn't seem to be too easy to find. The patientslikeme site let's you track some of the relevant symptoms, grouping into mental, physical and social - which draws some parallels with the presentations from the AGM. I'll keep updating my details, and give feedback. My immediate grumble is that I don't seem to be able to update my details from my tablet.

Symptoms update - illness & tiredness

Ok. I posted a few months ago that I wondered if I was starting to get more signs of HSP. This has been a little bit more and more since then. At the weekend I was sick - probably a food bug, but that's not important. My youngest son was sick Fri/Sat, with my eldest son and me both being sick Sun night, presumably the same thing. Needless to say it was quite a sleepless night on Sunday. I could really tell that I was exhausted Monday morning, and it felt so difficult even to stand up. I felt like I had no energy and I had to really think about trying to stand up.

Some time ago I had observed about things being worse when I was tired, and I suspect that this combined with sickness just emphasised the effect. Monday night was a good nights sleep, and I was back to normal today.

I read, via twitter, the spoon theory a few months ago, and I saw that this seemed a very good way of explaining a long term chronic health condition. I have a feeling that HSP is going to need this explanation. If you've not seen the theory before have a read: http://www.butyoudontlooksick.com/wpress/articles/written-by-christine/the-spoon-theory/ 

This is probably also the place to note that in addition to noting some 'issues' with my legs (which I'm perfectly happy to talk about) I've also been spotting some urinary and bowel issues (which I'm not so comfortable sharing). I've been having some urgency 'issues' recently with some 'events' being a little too close for comfort. For completeness, I'll also note that I've spotted at some time most of the effects noted in my post about a year ago. It's a good job I don't need to worry about how many times I flush!

Overall Update

I realised the other week that it had been a while since I updated the index for this blog, so I've added the last 12 months of posts to the index such that it is now up to date. Perhaps this becomes an annual job as its about a year since I put the index up in the first place.

I've also added some technology to the blog. I was looking at someone elses Blogger Blog and they had various features that I wanted. I had a bit of an explore and managed to find a search feature, and e-mail/RSS subscriptions. So. those are to the left of this and you are welcome to use them if that helps you keep in touch.

In recent correspondence I've also become aware of three more HSP groups - Finland: http://www.ms-liitto.fi/hsp, Austria: http://www.salzburg.at/miniweb/sspshg/ and Europe: https://sites.google.com/site/eurohsp/home. I wonder if there are any more?

I've also been looking into the SPATAX network: http://spatax.wordpress.com/ and observing that many of the researchers here are those with the most papers in my trawl of papers.

Finally, I've over 100 completed reponses to my survey so far, so many thanks to those that have completed it. I'm still trying to promote this around HSP groups, so I dont think I'll look at results until later in the year.

UK flu vaccination

I got a letter from my doctor the other day saying I was entitled to a vaccination against flu/influenza. I was a little surprised as I thought I would be the least likely person in my home.

However, according to the NHS website people with neurological conditions are entitled to this http://www.nhs.uk/Conditions/vaccinations/Pages/who-should-have-flu-vaccine.aspx. Now, I'm not sure my HSP is 'chronic' but at least it explains the letter.

I spotted this on one of the Facebook groups.

Groups around the world

I posted (about 3 years ago) a list of support groups that I'd found which had websites in English. In the interests of letting more people know about this blog and trying to get some more reponses to my survey I've made contact with all of the HSP groups I can find (thanks to lists on the UK HSP group and Rare Connect). The full list (in no particular order) is:

UK: http://www.hspgroup.org/
US: http://www.sp-foundation.org/
Australia: http://www.hspersunite.org.au/
Switzerland: http://www.hsp-selbsthilfegruppe.ch/index2.php
Spain: http://www.aepef.org/
France: http://asso.orpha.net/ASL/index.htm
Germany: http://www.hsp-verein.de/startseite.html
Germany: http://www.hsp-info.de/ (Tom Wahlig Foundation - a group who funds HSP research projects)
Norway: http://www.regioner.nhf.no/index.asp?id=63230
Italy: http://www.vipsonlus.it/
Denmark: http://www.sca-hsp.dk/index.html
The Netherlands: http://www.vsn.nl/ (neuromuscular disease group)

These groups are all in Europe, North America and Australia, and this grouping of countries therefore provides some support for HSP sufferers covering about 15% of the worlds population, so I'm wondering how people with HSP in the other 85% of the world get their support. (I accept I've made a number of gross simplifications here).

If any readers know of support groups/communities/websites for HSP in other parts of the world, I'd love to hear from you.

Research Update

This month there's been an update on various HSP related research activities posted on the Australian HSP Research Foundation website - http://www.hspersunite.org.au/. There are four articles on genetic testing and advances in testing ability, along with a study into leg muscle stretching and another on balance issues. Finally an article on the barrier that medication needs to cross is given. I've lifted the summaries of these pages and popped them here, along with links to the full articles.

Next Generation Sequencing diagnostics for HSPs - Germany leading in HSP gene testing
Researchers in Germany have developed an “HSP-Panel” that will provide HSPers with cutting-edge gene testing services. Based on next-generation sequencing (NGS), they have packed 38 HSP genes together with 50 other genes responsible for clinically similar diseases onto the panel. This means that almost all known HSP genes can be screened for in one single examination, in a much shorter time frame, and at around the same cost as the limited testing currently available.

http://www.hspersunite.org.au/next-generation-sequencing-diagnostics-for-hsps/

HSP gene testing advance in China - Success in detecting point mutations

A gene chip has been developed in China that detects 96 of the more common HSP point mutations accurately and consistently in this gene screening.

http://www.hspersunite.org.au/hsp-gene-testing-advance-in-china/

Next generation gene testing - Helps identify non-SPG4 HSP

Associate Prof. and Director of Neurogenetics at Sydney’s Royal North Shore Hospital, Carolyn Sue, headed up this research study. Dr Sue has been involved with stem cell research for several years. Next Generation Sequencing (NGS) was used to successfully identify the HSP mutation in one quarter of HSPers in a study who were known not to have SPG4 HSP. Targeted NGS may be a useful method to screen for the multiple genes associated with HSP.  

http://www.hspersunite.org.au/next-generation-gene-testing-3/

Sharing genetics knowledge - New software will aid progress

The widespread availability of new software to analyse large genomic datasets will provide a fast, powerful and flexible tool to enhance identification of the genetic causes of diseases such as HSP.  A software tool (GEM.app) has been developed to annotate, manage, visualize, and analyze large genomic datasets (https://genomics.med.miami.edu/). GEM.app currently contains ~1,600 whole exomes from 50 different phenotypes studied by 40 principal investigators from 15 different countries.
http://www.hspersunite.org.au/sharing-genetics-knowledge/

Calf muscle spasticity studied - Lengthening the muscle may help 

Lengthening of the calf muscle by, for example, aggressive stretching programs may help to improve function in people with calf muscle spasticity.

http://www.hspersunite.org.au/calf-muscle-spasticity-studied/

Nerve conduction impairment in HSP studied - Signals to and from the brain are very different

The nerves that take signals from the brain to the legs and feet do so normally in HSPers, but different nerves that bring the signal to the brain from the feet are where the abnormal delay happens due to slow conduction times.

HSPersUnite gave a “plain English” interpretation of this research study from the Netherlands that examined posture and balance issues with HSP:

1. They put HSPers and non-HSPers on a platform that would tilt forwards or backwards under researcher control.

2. To maintain balance when the platform tips forward, it is necessary to contract the calf muscles to maintain balance; when it tips backward, you have to contract your shin muscles.

3. HSPers could not maintain balance as well, and had slower reaction times of the order of 30-40 milliseconds, compared to the non-HSPers.

The mechanism in operation is this:

* The feet detect a change in orientation of the surface with which they are in contact.

* Information is sent by an impulse along nerves to the brain where it is processed. The nerves that carry these impulses from the feet to the brain are called afferent nerves.

* A response is then sent by an impulse along different nerves down to various structures in the lower limbs such as muscles, which then respond so as to maintain balance. The nerves that carry these impulses down from the brain are called efferent nerves.

4. Next, the researchers introduced a sound into 25% of the trials to coincide with the start of the platform tipping backwards.

5. When there was a sound, both HSP and control groups responded faster, and they both responded in the same time.

The mechanism now in operation is this:

* The ear picks up the sound, which is transmitted to the brain for processing exactly the same for both HSPers and non-HSPers.

* This is faster and makes the (afferent) nerve response from the feet to the brain redundant as the brain already has the information it needs from the sound.

* A response is then sent by a nerve impulse along the efferent nerves down to the lower limbs.

So it is reasonable to conclude that the efferent nerves that take signals from the brain to the lower limbs do so normally in HSPers, and that the afferent nerves bringing the signal to the brain from the feet (when there is no sound) are where the abnormal delay happens due to slow conduction times.

http://www.hspersunite.org.au/nerve-conduction-impairment-in-hsp-studied/

The blood-brain barrier

The blood-brain barrier is important in HSP because any drug treatment needs to successfully cross this barrier to find its way into the upper motor neurons or nerve cells to counteract the impairment caused there by HSP mutations. An article, written by Dr Karl (a funny, slightly eccentric, wildly enthusiastic and hugely knowledgeable, self-professed geek who regularly shares his wisdom on all manner of scientific things on radio, TV and in print) explains what the blood-brain barrier is and how it works.

http://www.hspersunite.org.au/the-blood-brain-barrier/
http://www.abc.net.au/science/articles/2013/07/23/3808471.htm

Autumnal Survey 2013

Update: This 2013 survey is now closed. For details of the results of this survey and any current surveys, please see this page: http://hspjourney.blogspot.co.uk/p/my-on-line-resarch.html

Original Post:
I thought, as the year draws to a close, that I would start a new feature each autumn. My thought was to capture information in a survey each year and report the findings in the new year. I know that there are about 700 page views a month on this blog, but I have little idea about my audience except for their country. So, my first survey is to find out a little more about the type of person who reads my blog, which will set the scene for future surveys.

I would be grateful if you would spend a few minutes to answer my 2013 survey.
http://www.surveygizmo.com/s3/1360676/HSP-Symptoms-and-Mis-diagnoses

I'll also post this link around on FaceBook, RareConnect and other places.

Symptoms update - tide turning?

I wonder if I'm on the cusp of the start of the onset of significant symptoms. In the last few weeks I've been feeling that my legs are a bit stiffer, and my feet are a bit sore.

There doesn't seem to have been any specific things going on out of the ordinary. I'll keep tabs on this and see how things change.

I'm sort of expecting that this would be case as that is what happened to my mum.

It feels a bit odd to be waiting for this to happen, expecting the tide to turn and symptoms to change quite quickly, a bit like the current rate of change of sunset time as we move from summer into autumn.

On other matters I'm reconsidering the patients like me website. They are out to make money by selling information to companies, but I'm now thinking that this would be another way perhaps to influence the way drugs are developed.

Why am I reconsidering? I'm following them on twitter, and there are some interesting tweets. I tweet about HSP in and around tweeting about noise. Most HSP things I tweet about are on here as well.

Opportunity to influence - Disaster survey for disabled people

Following on from Dr Nairs presentation at the  HSP Support Group AGM, here is an opportunity to influence thinking. The UN Office for Disaster Risk Reduction (UNISDR) and partners have  launched the first-ever survey of people living with disabilities on their coping capacity in the face of a disaster event. They have a survey for people living with a disability which runs until September 25th 2013. 

The survey seeks to establish (in simple terms) peoples disabilities and their ability to respond in an emergency. The survey also asks about types of disasters that you might encounter in any one year and planning for such disasters. There are 23 questions. This link tells you about the survey: http://www.unisdr.org/2013/iddr/#.Ug9fgpKsiSo

The survey (the English 2013 Survey on Living with Disabilities and Disasters) is here:
http://www.surveymonkey.com/s/XJFJD96
As the top of the survey indicates: "THIS SURVEY IS INTENDED ONLY FOR PERSONS LIVING WITH DISABILITIES AND CAREGIVERS" I've not actually answered it myself.
Various background reading:
http://www.unisdr.org/archive/34174

http://www.un.org/disabilities/default.asp?id=1546