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

AGM2013: Promoting Walking Ability (Alison Clarke)

This post is the fourth and final post about the UK HSP Support Group AGM. Alison Clarke is a physiotherapist from the Northern General Hospital in Sheffield.

Alison began her presentation by giving the four things which a person needs to be able to walk:
1) Each leg must be able to support the whole weight of the body.
2) You must be able to balance on one leg
3) You must have sufficient muscle power to be able to swing the leg & trunk forwards
4) You must have the ability to swing the leg forwards.

Alison observed that for HSP the main problem is not being able to swing the leg forwards, there are problems bending the leg, with swinging it forward, and with heel strike. People with HSP bring their weight forward, with excessive trunk lean. As a result people with HSP have short steps, walking is slow, requires lots of effort, and various compensations are made. Several people end up falling over backwards.

HSP affects the gait because the condition affects the muscle tone. This can cause pain, bring on joint stiffness and reduce balance. When muscles are not used they become shorter and become weak.

When you have some walking issues, this is the time to have a review with a physiotherapist.

Alison then went on to discuss walking aids. These include:
Sticks/poles
Crutches/gutter crutches
Walking frame
Rollator/gutter rollator
Wheelchair
FES

'Gutter' refers to the type where you would put your forearm into a 'gutter' rather than hold just with the hand. Alison observed that with frames and rollators it is important to consider choices of seats, handles and ferrules.

Sticks and poles are used to aid balance rather than support weight. For HSP Nordic walking poles can be useful as they keep your body upright and increase your momentum. Having two of these aids is better than having one as two aids will keep you more upright.

It is preferable to use your own muscles and balance to walk and move, but considering using aids is not negative.

It is important to choose your aids carefully, they should put less stress on your posture, give you less pain and give you more endurance.  More importantly, perhaps, is that aids improve your aesthetics - people who use aids look more like an average walker than those who don't use aids.

Aids also give you more access to places, can help you at work or at leisure, and give you confidence. They can be a positive thing.

If you move with your own muscles you will maintain the quality of your muscles and balance, and using aids will reduce this.

Conversely you need to use aids when you cannot do what you want to, perhaps because you are falling or tripping.

Therefore, its a balance - you will need to spend some time maintaining your muscles and balance, but also use appropriate aids when you are looking to enjoy yourself. Elbow crutches can be a good choice.

There was quite a bit of discussion around this balance between aids and self moving after the presentation. Generally people in the room felt they should have started to use aids earlier.

I asked when someone should make their first appointment at the physiotherapist. Alison advised that you should if you are showing any small signs. If you leave it too long it can be hard to reverse any habits that you've picked up.

AGM2013: Research Update (Dr Siva Nair)

The third paper presented was a research update on treatment, given by Dr Krishnan Padmakumari Sivaraman Nair of the Royal Hallamshire Hospital, Sheffield. Dr Nair indicated that he tended to abbreviate his name to Dr Siva Nair.

He indicated that HSP affects 1.3 in 100,000. He has been reviewing papers published about HSP, and identified that he had found 356 papers published since 1971, 142 in the last 10 years, and only 11 relating to treatment.

The databases he listed were:
AMED, http://www.ebscohost.com/corporate-research/amed
EMBASE, http://www.embase.com
PsycINFO, http://www.apa.org/pubs/databases/psycinfo/index.aspx
BNI, http://www.library.nhs.uk/help/resource/bni
CINAHL, http://www.ebscohost.com/academic/cinahl-plus-with-full-text

Dr Nair then went on to describe three treatments: FES, Botox and Intrathecal Baclofen, focussing on the latter.

Intrathecal Baclofen uses a pump and tube to deliver the muscle relaxing drug directly to the spine. One of the main issues is that it is very easy for the pump to deliver too much or too little drug. As an option, it is not one to be considered lightly.

Dr Nair posed the question why were there so few papers on treatment? A comparison with MS (I think) shows that about half of the papers are to do with treatments.  One factor is that there are many groups who are actively influencing research there. He suggested that there was no reason why this couldn't be true for HSP as well. There were four strategies he suggested for getting involved;

1 - Participate in consultation events.
2 - Collaborate - get involved in research
3 - Control the research by selective funding
4 - Control the research by becoming a member of a steering committee.

Dr Nair concluded by describing a research programme which he is currently seeking funding for. He wants to look at the use of FES in the community. Most FES research has been done in the lab and Dr Nair wants to look how it works for users in normal day to day use. He plans to measure walking, falls, quality of life etc. at the beginning, then give either FES or an AFO for 12 weeks, re-measure, switch treatment for a further 12 weeks, measure again and understand what people prefer. The study will take place in Sheffield and Salisbury. He will contact the HSP support group when funding is secured. He will be seeking participants.

Although Dr Nairs presentation had the least notes it gave me the most questions. Regular readers will know I've been identifying the number of research papers and I get a much larger number from one database. I noted that Dr Nair used the word paraperisis all the time and my search covers this and paraplegia. I didn't get a chance to chat to Dr Nair about this after his presentation.

In writing this post I was thinking about the involvement strategies, and was looking up about consultation events since I understood this the least. A quick search found that RareDiseaseUK have recently completed a consultation event about rare disease policy in the UK. http://www.raredisease.org.uk. Firstly this consultation closed May 2012, so I'm disappointed not to have found and responded. However the response document and other supporting stuff on the website is good, and these will form another blog post or two, and another organisation to join.

The main supporting report is here: http://www.raredisease.org.uk/documents/Website%20Documents%20/rare-disease-impact-report.pdf  There is also a report into the perception of funding:  http://www.raredisease.org.uk/documents/RDUK-Research-Funding-Report.pdf 

I could picture the other involvement strategies more in my head and I'll cover those on another post or three.