AGM2014: HSP Research, the Historical Perspective - Dr Evan Reid

Dr Evan Reid gave a historical perspective on HSP research. He initially showed a graph with the number of research articles which cover HSP, ranging between 1947 and now, and described that research into HSP has fallen into three phases.

The first phase - the Clinical Phase, began with the original work of Strumpell and Lorrain, with Strumpell describing the condition initially, and Lorrain fleshing out the detail some more. Another researcher Dr Reid mentioned in this phase was Anita Harding who was working on the clinical definition of HSP until her death in 1995. [Various links with info/obituaries below].

In this Clinical Phase, which ran through till around the 1990's definitions were made of the:

• different types of HSP - pure and complex, 
• features/symptoms of HSP
• pathological anatomy
• inheritance modes
• different complex sub-types.

During the late 1980's / early 1990's the next phase started, the Genetic Phase, which ran through until the 2000's. One researcher noted was Sue (Susan) Kenwrick, who was involved with the first genetic identification of HSP in 1984, which was identified as SPG1. [Various links with info below]

In 2007 there was a leap in technology, with Next Generation Sequencing which allowed research to progress at a greater rate and at a cheaper cost than previously, now at about £5,000 per genome. [The first human genome to be sequenced cost $100m, and costs have dropped ever since, roughly following Moores Law until the advent of next generation sequencing, with costs now at $8k per genome http://www.genome.gov/sequencingcosts/]. 

Dr Reid said that new HSP genes were continuing to be identified, and suggested that overall there might be 100-200 HSP genes in total.

The next area where the sequencing is likely to go is in the investigation of modifier genes. There are some genes which are protective, and others which are enhancing of the action of a gene - i.e. the function of one gene can be helped or hindered by other genes.

In the background, we always have to remember what genes do. The function of a gene is to produce a protein. When a gene is mutated, like various genes are with HSP, then the end result is either that the protein is not produced at all, or there is an abnormality in the production (which may mean too much protein in produced, or not enough, or the protein is not produced properly).

This leads us on to the third phase of HSP research, the Biological and Treatment phase, which began around 2001. To describe this phase Dr Reid gave us a quick lesson in cell biology so we could understand what happens with HSP. This lesson takes the form of an analogy:

• Treat a cell as a company. It is semi-autonomous. 
• The nucleus of the cell is the head office, in charge of the company.
• The DNA is the CEO of the company.
• The endoplasmic reticulum (ER) and the golgi apparatus make up the manufacturing department of the company. Proteins are made by the ER and the golgi apparatus packages them up for despatch.
• The plasma membrane, at the edge of the cell is responsible for exporting the proteins that are made.
• There are also receptors on the plasma membrane which undertake market research, identifying if more (or less) proteins need to be made.
• The power for the companies operations comes from the mitochondria.
• Within the cell there are microtubules which are like rails, allowing proteins to be moved from manufacture to export
• There are special motor proteins which are used to move things along the rails.
• The packaging of various things as they move within the cell includes endosomes, which also have a sorting function sorting if things should be disposed of, recycled or sent on.

A neuron is a special type of cell. In addition to the cell described above the neuron also has an axon, which is another method of communicating with the outside world. This is a special part of the cell which can extend away from the nucleus a distance many thousands of times the size of the rest of the cell (up to ~1.5m). Within the axon are microtubules which carry information to/from the nucleus. This arrangement means that the transfer of information between parts of the body is very quick, but complex machinery is needed to support this transfer. The axon from a neuron can connect to the cell of another neuron. 

In the majority of types of HSP, the result is degeneration at the end the axon which then progresses. The different types of HSP affect different elements of the axon. Some affect the endoplasmic reticulum (ER), some affect the motor protiens, some the endosomes, and others some of these in combination.

Spastin is a protein which regulates the microtubules within a cell. Its job is to chop them up, which helps to shape or prune them. When you have spastin HSP (SPG4) less spastin is produced, and fewer microtubules are broken up. The essential questions are:

• Why do the microtubules need to break?
• When does a reduction in microtubule breakdown cause HSP? 

Perhaps the wrong receptors are on the surface of the cell, so instructions to grow/stop growing/divide/change/etc. are not received properly. This could then influence the cells behaviour. It has been noted that with HSP BMP signalling is unregulated, but it is not known if this is the cause of HSP or an effect of HSP. If it is a cause, then drugs are available for this.

There are three areas where research in HSP is being undertaken to answer these and other HSP questions:

• Cell biology - using microscopes, stem cells, genetic edits
• Animal models - principally mice, zebra fish and fruit flies
• Human studies - HSP clinics

In summary, the genetic identification of HSP is now rapid, which improves diagnosis and allows testing. Within the cell there is an increase in the knowledge of the functions of the proteins. The proteins associated with HSP have inter-related functions. The use of animal models allows quick progression, and stem cell models are also used.

Currently there are several starting points, with potential treatment avenues identified. Thorough research is required to develop treatments.

As an example of how things are progressing, Dr Reid noted Duchenne Muscular Dystrophy. This is a genetic condition which results in muscle degeneration and death by the mid-20's. Like HSP there is no treatment. However, there has been an overall improvement as a result of the use of combined therapies. In the 1960's 80% of people with Duchenne MD had died by the age of 20. In the 1970's this had improved with 60% having died by the age of 20, and with further improvements in the 1980's and beyond, with some people now living into their 30's.

For HSP, like the three areas of research there are three areas for treatment. The main area is in rehabilitation, where orthotics or FES may be used, or drugs given to mitigate the symptoms, e.g. baclofen. With genetic testing, advice can be given which provides clarity and frames likely progression. The other area is neurology, where assessments are made in clinic and can guide approaches for treatment.

After the presentation there were a few questions, some of which I've built into the text above.

It was asked if spastin could be injected as a treatment. For this to work you'd have to inject it directly into the neuron, which would be difficult to do. It is also very difficult to get spastin isolated by itself.

Stem cell research was touched on briefly, noting that it could be possible in the future to edit the DNA to remove the spastin mutation from stem cells and then re-inject them, but the issue is getting the these to the neurons. Dr Reid noted that at the moment about 10% of stem cell injections resulted in a tumour, but this may be useful in the future.

Post AGM links:

Anita Harding:
http://en.wikipedia.org/wiki/Anita_Harding
http://www.acnr.co.uk/SO09/ACNRSO09_anita_harding.pdf
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051804/pdf/jmedgene00255-0013.pdf
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914930/pdf/ajhg00014-0240.pdf

Sue Kenwrick:
Google was playing up, but this text was in the Google cache of the Addenbrookes hospital site, Cambridge. "Sue retrained to become a genetic counsellor after 20 years in scientific research. Her postdoctoral work was based around finding and understanding genes for X-linked monogenic diseases and she was a Lecturer and then Reader at Cambridge University. As a principal, registered genetic counsellor her main role is GC Cancer Lead but she keeps up her interest in general genetics through prenatal clinics and a general clinic at Ipswich Hospital."

SPG1:
http://omim.org/entry/303350?search=spg1&highlight=spg1

AGM2014: The effects of warming and cooling on HSP - Amanda Denton

Amanda reported some work that has recently been completed at Plymouth University. Many people with HSP report that walking becomes more difficult when they are cold, and Amanda reported some work which sought to investigate the effects of heat on nerve and muscle function..

The general symptoms that are reported are that people feel stiffer, that they have more falls, and that it seems to take longer for messages to get from the brain to the legs. This research was undertaken in two parts, and Amanda was principally reporting the second piece of work.

The first piece was undertaken in 2010/11 where participants were subjected to warming and cooling of their legs in the laboratory. These results showed that when legs were cooled there were negative effects, and when legs were warmed there were positive effects. This research can be seen http://www.plymouth.ac.uk/pages/view.asp?page=38252

This first piece of work led to a product trial of some wearable heating pads, as discussed at an HSP support group meeting in 2011. These were neoprene sleeves which could be warmed in hot water and then put on calf muscles on the front and back of the leg. These were tested being worm for periods of half an hour. The second part of the research sought to answer two questions:

1) Can external warming have the same effects as shown in the lab?
2) Is there any benefit from keeping the neoprene on?

The research sought to measure temperature, walking, tapping, blood flow, stiffness and muscle strength - all of which can be measured. Two groups were used, 21 people with HSP and a control group of 16.

The research shows that wearing the neoprene can give the same benefits as shown in the lab. Applying the warming gives a statistically significant increase in walking speed and tapping. The research also showed that there was an increase in blood flow with the neoprene, but this was also true of the control group.

As mentioned, the main part of the trials looked at the effects after applying heat with the neoprene for half an hour, and some investigations were made into keeping the neoprene on. These results showed no clear benefits. The objective is to find practical application for these findings, and Amanda discussed where the research would go next, and the thought is to undertake a case study after Christmas when it is generally cold outside. Amanda noted that people with Cerebal Plasy can report the same temperature effects as those with HSP.

Various questions were asked by the audience including simply replacing one set of warm neoprene with another. Amanda and the others noted that caution should be applied as they have not looked at issues like skin integrity which may come into play - but they did note that the wearing of tight garments may be able to retain some natural heat and affect spasticity. I note that the wearing of many layers can also retain heat, they dont have to be tight to do that then.

After Amandas presentation, Jon Marsden and Kate Winstone took questions about all three presentations.

Another area where research could be undertaken is the rehabilitation of pes cavus (arched feet). There would appear to be no previous work in this area. Pes cavus arises because some muscles become weaker and others become stiffer, and this effect can change over time.

One way of treating this is to use in shoe orthotics/insoles to change the distribution of weight when walking, although it is noted that orthortics can change peoples back postures. Other ways could include high-tech clothes (this reminded me of the high-tech swimming outfits which were "banned" from the London Olympics in 2012) - perhaps a special sock could be designed for pes cavus. Plymouth are looking to undertake research into this, and are seeking to establish focus groups. Various audience members showed their in-soles and shared their experiences.

The final point which was discussed in the question sessions was that of generalising exercises. Each person who is given a set of exercises by their physio has been given them for a reason. As it is easy to spot with a room full of HSP-ers, each has their own way of moving, and this leads me to believe that each person would potentially need a different set of exercises.

The final point, which I'll expand on more in another post was how to find a physiotherapist with a neurology specialisation and an interest in HSP.

First answer - talk to others who have used one and get a recommendation.

Second answer - look at ACPIN (the Association of Chartered Physiotherapists in Neurology) http://www.acpin.net/ There appears to be a load of useful links and resources on this site - hence a further post comingup.

From this site you can also get to the CSP (Chartered Society of Physiotherapy) which allows you to search for people near where you are (in the UK). http://www.csp.org.uk/physio2u/search/table

A quick search here shows one practice which specifically mentions HSP http://www.specialist-physiotherapy.co.uk/ who are based in Kenilworth.

AGM2014: Does physical activity improve quality of life in HSP? - Kate Winstone

Kate Winstone gave an overview of work that is currently being undertaken at Plymouth University. A number of people at the AGM took part in research on the day, and Kate was explaining.

Kate is examining the benefits of physical activity. It is known that there is a lower level of activity in people with neurological conditions, compared with the normal population. It is also known that physical activity can bring an improvement to quality of life.

The general question is would physical activity improve the quality of life? A study has shown that for people with cerebral palsy an increase in physical activity does not lead to an increase in quality of life. Kate is researching what the outcome is for people with HSP.

If her research confirms that increased physical activity does increase quality of life, then follow on work can be undertaken to establish:

• What types of physical activity? - strength or flexibility exercises, for example
• When, over the progression of HSP would this be best? - at the beginning, later on, etc.
• Which types of HSP would gain the most benefit?

Effectively, Kates research seeks to identify if there is a correlation between physical activity and quality of life for people with HSP.

This work should have the following benefits:

• An increased understanding of the importance of physical activity
• Could lead to further research being undertaken
• An increased awareness of HSP
• Provide support for finding.

Kate observed that there was limited evidence for the general benefits of physio on people, which means that it is more difficult to obtain funding for research.

Kate then went on to describe the study being undertaken. She had been contacted by 35 members of the HSP group who wanted to take part, and 22 were being investigated on the day. (I did apply, but the spaces were all full by that time).

The aim of the day was to assess participants using the Spastic Paraplegia Rating Scale (SPRS). Each person went to four different "stations" set up on the day testing:

• Speed of walking/stair climbing
• Muscle power and reflexes
• Memory
• Senses and sensations

After the assessment participants would have to complete an on-line survey, and after that the data needs to be analysed.

Kate will share the results of her research with the HSP group, with those involved with physiotherapy, and she hopes to produce abstracts and get a published paper from this work.

Post AGM Investigations: 

1) Here's one of many possible links showing the relationship between physical activity and quality of life.

http://www.nhs.uk/Livewell/fitness/Pages/Whybeactive.aspx

2) The SPRS can be seen here: http://www.neurology.org/content/67/3/430.short , which concludes: "Application of SPRS requires less than 15 minutes and does not require any special equipment, so it is suitable for an outpatient setting. Interrater agreement of SPRS was high (intraclass correlation coefficient = 0.99). Reliability was further supported by high internal consistency (Cronbach α = 0.91). SPRS values were almost normally distributed without apparent floor or ceiling effect......The Spastic Paraplegia Rating Scale is a reliable and valid measure of disease severity." 

Whilst the article requires a log-in to see the full text, the SPRS scale itself can be downloaded as an attachment from here: http://www.neurology.org/content/67/3/430/suppl/DC1.

There are 14 steps. the first 13 are ranked on 5 point scale:

1) Walking distance without pause

2) Gait quality

3) Maximum gait speed

4) Climbing stairs 

5) Speed of stair climbing

6) Arising from chair

7) Spasticity in hip adductor muscles (those which bring your legs back in line with your body)

8) Spasticity in knee flexion muscles (those which cause your knee to bend)

9) Weakness in hip abduction muscles (those which move your leg out of line with your body)

10) Weakness in foot dorsiflexion muscles (those which raise your toes or foot up)

11) Contractures of lower limbs (measure of permanent shortening of hip, knee and ankle muscles)

12) Pain due to HSP symptoms

13) Bladder and bowel function

The 14th step is identifying if any of a list of complicating signs are present.

You can also see the SPRS as a part of this fuller form on the SPATAX network website. http://spatax.files.wordpress.com/2013/09/fichecliniquespatax-eurospa-2011.pdf

AGM2014: HSP Research at Plymouth University - Prof Jon Marsden

This post combines together both of the times which Jon Marsden spoke at the AGM. He spoke first to introduce Plymouth Universities areas of research interest, and to introduce his colleagues, whose presentations I will cover in separate posts. He then, later in the day, Suggested some research which he would like to commission.

Plymouth University Research

Jon began by defining HSP into two parts, being the two main areas of research. The "H" - hereditary - is the genetics side of things, and research seeks to understand what causes HSP, what the different affected genes do, and that kind of thing, and seeking potential treatments.

The "SP" - spastic paraplegia - is about the effects, and this is what is concentrated on at Plymouth. This research seeks to understand what symptoms are seen, how these symptoms affect quality of life, and how the symptoms can be reduced.

Jon observed that there is a third element, which combines the two parts looking at overall service delivery and support, which would consider things like physiotherapy, mobility aids, and so on.

At Plymouth, over the years, the team has been looking at the impact of HSP, understanding what the effects are. They have undertaken research by asking people questions and undertaking examinations and measurements. Measurements might include stiffness or strength, or sensitivity to vibration, and these would be looked at in the context of the study being undertaken - for example, how does HSP affect people balance.

In this regard, HSP affects hip muscles, which limits sideways leg movements, and stiffness in ankle musckles affects back and forth movements, so the HSP gait involves swaying from side to side and a lot of dragging feet along the floor. But, some stiffness is needed for balance, and the contrast is that if you reduce the stiffness to increase mobility then you may decrease balance. A certain amount of stiffness is needed in our muscles to allow balance normally, and HSP adds to this stiffness. This element can be treated with stretching, and some of the work at Plymouth has been to target therapies to the symptoms.

Looking at the overall service delivery side of things, Jon reported a study that they have recently completed which examines this process, and concludes that "People with HSP require better self-management advice, information and support."
http://www.plymouth.ac.uk/pages/view.asp?page=32853
http://www.ncbi.nlm.nih.gov/pubmed/23944176
http://informahealthcare.com/doi/abs/10.3109/09638288.2013.824032

In Jons presentation later in the day described this research. One of their findings is that there is a poor evidence base out there on which to make decisions - either about providing treatments to people or about funding further research. Jon listed the common treatments which have been identified as providing a benefit by people with HSP:

• Genetic counselling, 
• Anti-spasticity drugs, 
• Physiotherapy, 
• Occupational Therapy, 
• FES (Functional Electrical Stimulation)
• Tai chi / Pilates / Acupuncture, 
• Hydrotherapy

There are limited studies covering some of these, perhaps 50 papers in total covering all of these.

Jon reported that the key issues for people with HSP in the south west of the UK (Devon and Cornwall) were:

• Length of diagnosis
• Lack of publicity/knowledge
• The need to travel to get acces to specialist knowledge (e.g. travel to London)
• Allocation of services (i.e. availability of funding for investigations/treatments)
• Co-ordination of care (healthcare professionals talking with each other)
• Lack of evidence for treatments/interventions

"Telehealthcare"

Jon then described a potential model for the provision of specialist HSP care, drawing on existing practice in other areas. (I'm not 100% sure it was called Telehealthcare, apologies if not) Essentially, satellite centres would be set up to provide specialist HSP care two times per year. Within these centres there would be video-conferencing to specialist consultants, and there would be a range of other support available during the day.

This solution would reduce the need to travel long distances, and it would improve the knowledge of local professionals about HSP (who may sit in on the specialist consultation video conference), and support for both patients and carers should allow care to be coordinated. 

Jon identified that there was a burden on carers which is frequently ignored. Those who care for people with disability (not just HSP) can experience a whole range of stresses and pressures which affect their own well-being, and having carer support at these clinics would be important.

Jon has put in for funding to undertake a trial for this with three clinics in each of Devon and Cornwall, and is awaiting the outcome, but could be a useful way of providing services. To make the research funding application work, Jon will combine the clinics with similar for hereditary ataxias.

"Telerehabilitation"

Jons final section was to ask the AGMs opinion on a potential telerehabilitaiton scheme. Effectively, this would be an on-line exercise programme. This has been undertaken for people with MS (Multiple Sclerosis), and Jon speculates that this could be good for people with HSP, and wants to set up a controlled trial.

Part of the management of HSP is undertaking regular stretches and exercise, and the on-line programme would give you a personalised programme to follow. Jon showed us some video examples from the MS example. Principally, after a consultation you would be given an exercise programme to follow, which you would do, with the computer/tablet providing the timing and allowing you to give feedback.

With the MS one there was no evidence of an improvement, but there were positive subjective opinions. Jon noted that the use of the programme fell with people dropping out over the 12 week trial, and that there was limited take-up.

Jon suggested that it would be straightforward to add motivational elements and educational information as well as links to support networks (e.g. facebook).

In discussions with the AGM, there was a general opinion that those with HSP notice the difference if they don't do their exercises, and the drop-off in use may not be so big. Suggestions were made that this could be combined with the telehealthcare, offering group exercise sessions at the clinics. Discussions went slightly off track by talking about the potential to use the accelerometers (etc) in phones/tablets to allow apps to monitor your exercise programme and provide feedback to the system.

Jon wanted to set up patient focus groups to allow the definition of this study and the firming up of the application for funding. Jon saw the trial potentially taking place with three groups in different parts of the UK so that the research would not be biased to people within a particular geographic situation. 

So, if you're an HSP support group member, make contact with the group and be sure to say you're interested in research. If you're in the UK with HSP and not a member, then why not join? - you could contact Plymouth and express your interest. 

HSP Support Group 2014 AGM

Last weekend I went to the UK HSP Support Group AGM.

The first part of the day was the AGM of the group, with good reports - the membership of the group is up, and the number of honorary members is also up - medical professionals who work with HSP are frequently made honorary members, and the number of members of the facebook group is up.

There have been more meetings in more places than the previous year, which is good as it means members are sharing their experiences more.

A new feature is that if members wish to take part in medial research, then this can be stored with the group, allowing researchers to approach group members to see if they would like to take part in studies.

During the day there were four presentations, which I will go into further details in subsequent posts (like I did last year). In summary:

The team at Plymouth University presented an overview of their work, research that they are currently undertaking, and research they would like to undertake. Prof Jon Marsden, Amanda Denton and Kate Winstone covered these areas between them, over two presentation 'slots'.

Dr Evan Reid of Cambridge University gave an overview of research in HSP and gave everyone an insight into what happens with HSP at the cellular level.

David Heard of Sportability gave us an introduction to the types of sports that his charity allows people with paralysis to have a go with, and the positive results which they achieve.

As last year, it was good mix of friendly people, and everyone used the breaks between presentations to chat to old friends and get to know new people. The event was well organised and well attended, and I enjoyed talking with people. As I observed last year, there are people with a wide range of mobility and a wide range of mobility aids, and it is a good reminder that whilst HSP is a rare disease, it really is ~70 different rare diseases grouped together.

HSP Clinic Report - Symptoms too.

I received in the post this week the letter from my visit to the HSP clinic in London. On the whole the letter echoes my recollections of the appointment, as I described in May:  http://hspjourney.blogspot.co.uk/2014/05/hsp-clinic-visit.html. The main difference was the observation that I have "slight spasticity" in my arms. Now, this has bought a few things to mind which I've not really been paying attention to in recent weeks/months. (and here comes the second symptoms update post in a row!)

I have, over the last few weeks, been noticing that I feel a little less steady on my bike when I raise one of my arms to indicate. I had thought that this might be the start of my balance going as separate from my spasticity increasing, but having some spasticity in my arms would be a much more logical explanation for this. I have also been finding that I've had pins and needles more in my arms recently and that generally "something" had changed/was changing. Without wishing to alarmingly predict pessimistically, it may seem that HSP is beginning to affect my arms as well. (see "negative automatic thoughts" here as well: http://hspjourney.blogspot.co.uk/2014/04/stress-and-mood-management.html) This then sets another chain of thought going in my head as the nerves that control the arms don't end up going within the spine for nearly as much length as those which control the legs, and that makes me re-imagine what form the nerve degradation takes.

Back to normality: The letter includes the request for referral to a neurophysiotherapist, the request for a 4mg prescription of Detrusitol XL including a reminder about the dry mouth side effect, and a request for a referral to an orthotics clinic for custom insoles. I have "lax" ankle joints and walk on the insides of my feet, with some leg spasticity, clonus, tight tendon achilles and brief reflexes - all leading to rapid shoe wear.

I did discuss bowel issues briefly in clinic (as I have mentioned before http://hspjourney.blogspot.co.uk/2013/11/symptoms-update-illness-tiredness.html) . The received wisdom is that this is quite unusual in HSP (although some 60% of respondents in my survey reported some issues on this front http://hspjourney.blogspot.co.uk/2014/02/hsp-survey-results.html) and further investigation is required on this front, perhaps with an appointment with a gastrointestinal surgeon.

During June there have also been a few links to this blog appearing on various HSP group sites around the world, mostly connected with the survey results. Next weekend sees the UK HSP Support Groups AGM in Leamington Spa, which I'm looking forward to going to. Perhaps I'll bump into some of my UK readers there? Do find me and say hello if you want! (http://www.hspgroup.org/index.php/meetings/68-agm-leamington-spa)

Symptoms update

I realised that its been about 6 months since I last did a symptoms update, so thought that a brief update was in order.

The simple summary of the last 6 months is that there haven't really been any significant changes. If I concentrate then I can walk without scuffing my shoes, but it feels like this is a bit of an effort at times. I still have bowel and bladder urgency issues. I still think I am affected more when I am stressed/tired/drunk.

Thinking about my appointment at the clinic the other week it occurs to me that my rate of shoe wear is directly related to the amount of effort which I put into walking.

HSP Clinic Visit

The other week I had a lovely day in London with an appointment at the HSP clinic at the National Hospital. It was a sunny day and I spent the morning looking around which was good to do.

An observation on the set-up to my appointment - the initial correspondence after my trip to the doctor had the wrong clinic on it. After some investigation I was in the correct clinic. The clinic code is NW1HH.

I found the clinic very useful, and there are lots of things arranged/suggested to keep me going forwards. The suggestion was that an annual appointment would be useful, but there is the possibility of having that appointment by telephone.

There was, of course, an examination. My leg reflexes are brisk and I'm using the insides and fronts of my feet (more than the outsides and backs).

The most important thing for me is to go and see the physio. I will need a couple of sessions, then get a set of exercises to do which I will need to do daily, and with a follow up appointment after 6 months (at which point I suspect the cycle will repeat). The exercises are all about slowing the trajectory of HSP - I like this language and approach, it acknowledges that this is not a treatment, but can help slow the progression of my loss of mobility down. One of the key measures for this is how quickly I get through/destroy pairs of shoes!

I do not need (yet) any spasticity medication. This will come at a later stage, depending on my rate of progression (which means it depends on if I do follow the daily routine each day).

For me, item number 2 is to look at my bladder. The concept is to get an ultrasound scan of my bladder before and after urinating and look at the volume remaining. Its likely that I'll get a prescription to detrusitol to see if that helps over a few months. It should relieve some of the urgency.

The last suggestion was to see an othotist and get some custom in-soles for my shoes. This would help re-distribute my weight a bit better as well.

We also had a brief chat about my blog and the results of my survey (the HSP Support Group newsletter has recently been published with a summary of some of my findings in it. SPG4 is one of the middle/moderate variations of HSP. SPG11 is more severe and SPGs 3A and 31 more mild. I'll have to check if I have enough data in my survey to attempt this analysis.

One other final point of the day. I spent the train journey looking at abstracts from research papers with a view to getting my research side a bit more up to speed/date. I used some macros to re-combine the text file into some thing a little more useful which saves on one of the major headaches I was dealing with when I last looked at this.

Stress and mood management

Back in March I attended a "stress and mood management" course for a day. This is a precis of my notes.

We started with an overview of the basis of Cognitive Behavioural Therapy (CBT). 

People have thoughts, and as a result of those thoughts they have behaviours, and this works the other way round as well, particular behaviours can affect thoughts. As a result of the interaction of thoughts and behaviours there are emotions and physical feelings. In a nutshell, often it is not possible to change the situation that you are in, but you can change the way you think about it. If you change the way you think about things then you can change the emotions and physical feelings. The aim is to actively do things differently.

We then moved onto anxiety - and looked at the physical feelings associated with anxiety. These feelings themselves are not harmful. They can include:

• Headaches
• Tense muscles
• Itchy skin
• Tiredness
• Aches
• Numbness
• Hot or cold flushes
• Sweat or clammy-ness
• Pins and needles
• Dizziness
• Stomach churn
• A need to go to the toilet
• Poor decision making
• Shallow breath
• Blurred vision
• Dry mouth
• Blisters
• Eczema

These are all associated with the body's natural reaction to a stressful situation - the release of adrenalin and preparation for the fight or flight response (for example, poor decision making arises from blood draining from the frontal lobe of the brain, and blurred vision is a focus on directly in front of you - i.e. tunnel vision). Some of those in the list are the body getting ready for this, and others are results of the adrenalin wearing off. This means that you can associate these physical feelings with anxiety and be aware of why they are happening.

The next thing to look at was the panic/anxiety cycle:

1. There is something wrong
2. This causes adrenaline to be released
3. There are physical symptoms associated with this
4. These sensations are detected by the brain, which enhances the feeling that something is wrong.

The release of adrenaline is a natural effect, and nothing can be done about this, but CBT aims to intervene where things can be changed.

With (1) you can appraise if there is something really wrong, and change your thoughts

With (2) adrenaline needs oxygen, so you can change your breathing pattern to minimise the effects of this

With (4) when you detect the symptoms you can be aware of these and change your thoughts.

We talked about breathing exercises - rectangular breathing - short breaths in and long breaths out - think of breathing along the sides of a door (or other rectangle in vision) - If in doubt, breath out. This rectangular breathing is a little like Pilates breathing where we breath in through our nose and out through pursed lips.

We then moved onto the natural course of anxiety:

There is a limit to your anxiety level, which means that once you reach this limit the level plateaus out. It will drop over time. The CBT aim is to confront the situation and then spot the levels of anxiety dropping off. 

Example: A bear walks into the room you're in. This is stressful and your anxiety levels go up. What do you do? - If you make the decision to leave the room quickly then you get relief and anxiety levels drop quickly. But, the body perceives this as a  reward and encourages you to do this again. Effectively the next time the bear walks into the room your anxiety level rise quicker and you get into a worse situation. By staying in the room a little longer, in the peak of your anxiety level you get the chance to appraise the situation and perhaps feel that it is not necessarily as bad as you initially make out. (note - I do not actually advocate staying in rooms with bears....)

You may have a range of safety behaviours - for example needing particular company when you do something. Sitting right next to the door when you are somewhere. You should consider trying the activity without the safety behaviour as this can limit your activities if your safety behaviour is not available.

The final point on anxiety is that caffeine causes the release of adrenaline, so if you're a regular coffee drinker then you may be artificially putting your body into fight or flight mode - i.e. artificially raising your stress levels. Worth also noting that alcohol does the opposite - it is a depressant - and with sufficient intake you can end up with anxious, depressed or angry feelings.

We then moved onto low mood (i.e. depression), and the low mood cycle:

1.  You think there is no point. 
2. This reduces your level of activity.
3. You have fewer positive experiences
4. This lowers your mood - eventually you think "what is the point in anything....".

Like the panic cycle CBT inputs where things can be changed, and there is some overlap. 

With (1) you can change the way you think about things

With (2) you can force yourself to do something.

We noted that activities can be divided into three areas, those that are "fun", those that are "routine" and those that are "necessary". Often it is the fun things which go first.

Motivation comes after action (e.g. you feel better about doing somethign after you have finished it) - so you can improve the situation by working backwards - i,e, increasing your level activity will reverse the situation.

It is important to note that if you are quite sad then the feelings associated with doing something may not, at first, make you feel better or make you feel like you used to. But, each activity will raise your level of happiness a little, and after several activities you should pass the threshold where you begin to feel OK - and its upwards from there.

You should look at the present moment to work out the way forward - it is not necessary to understand how you got to this place, and such reasoning can be unhelpful. The thing that will be remembered is what helped us to get out the situation.

The stress beaker

In life people have big stressors and little stressors. Some level of stress is natural and expected. Each person has a "stress beaker" within which they work fine. The problem arises when there are too many things in the beaker. 

Big stressors may be work, family, grief, health or money. Little stressors may be people, transport, tiredness or housework. One option is to try and prevent things getting into the stress beaker, but that is not always easy. The other way is to try and reduce stress by doing things which act like a "tap" at the bottom of the beaker. These include:

• Exercise
• Hobbies
• Music
• Being with other people
• Reading
• Eating well

So, doing some of these activities can help reduce stress levels, thereby allowing room for more things to come in the stress beaker (if that is your aim)

Thoughts and Feelings

Something happens, we think about it, we have a feeling.

Sometimes people have negative automatic thoughts (NATs) These thoughts can be always there, or you can have them every now and again, or not even be aware that you are having them.  NATs are distorted, plausible, involuntary and unhelpful. If you are depressed or anxious then you can have more of these NATs, they are influenced by mood.

Each person has set up various "rules for living" - i.e we use these rules to justify why we do things. Around these can be a range of unhelpful thinking patterns which result in NATs. The aim is to influence your rules for life to result in a change in NATs. There are 7 different thought patterns of interest here:

1. All or Nothing - there is no grey area between two extremes
2. Over-generalisation - this limits options for change
3. Personalisation - this can attribute blame unfairly
4. Jumping to conclusions - the tendency is to automatically jump to he negative conclusions
5. Catastrophising - this invents a mountain where one doesnt really exist
6. Disqualify the positive - would you rather be right or be happy?
7. Should/ought/must - these fixed rules prevent options for change

There are four steps to challenging unhelpful thoughts:

1. When you have an unhelpful thought you should see if you can identify which category it falls into - this can distance yourself from the immediate emotion. 
2. You should consider the facts/evidence in front of you to prove/disprove the thoughts
3. Think about is this thought helpful
4. Think what you would say to a friend if they asked you about being in this situation.

Rules for living

These rules come from a range of sources, including friends, parents, school, society, religion, peers, experts, work (etc.). The rules are important because order in society is present and it helps us get along with each other - they are a framework to live in.

If your rules are too strict then they may be curtailing your behaviour, especially if you feel that you cannoy live up to your own rules. You can try to turn some of your won rules for life into guidelines.

Rules are rigid and compulsory - they include words like "must" or "should".

Guidelines are advisory and flexible - they include words like "could", "maybe", "sometimes" or "try" - a guideline cannot be broken.

For example the rule "I should always do my best" could become the guideline "I will try my best but I have a limit" - and this means that it may be more straightforward to on with life.

Other tools available include prioritising things and providing compensation for things.

It is important to note that whilst you can change your own rules (which others who know you may be surprised about) you cannot change anyone else's rules - the best you can hope for is that your rule changes can influence others to make their own decision about rule changes.

Communication

If you are angry you can have the same physical symptoms as anxiety. There are three outcomes for anger:

• Let it out (shouting, physical behaviour) - this affects others who see you doing this
• Bottle it up (becoming quiet or withdrawn) - this affects you only
• Anger management

There are a number of communication styles which can help manage anger. If you speak "passively" then you phrase things as though THEY are in control of the situation. If you speak "aggressively" then you phrase things as though WE are in control. A passive/aggressive style starts passive and then turns aggressive.

The best approach is to be assertive - to do things positively: Look at the facts, work out how they make you feel, work out what you want. Try not to sound like a broken record "I dont want to...."

Problem Solving

The last part of the day was looking at problem solving with the "5 P's".

Position - if you find you worry a lot, you should set aside some "worry time" - this might only be 15 mins a day. If you keep postponing things to think about then they will keep coming back to you. If you know you will dedicate some time to thinking about them then your mind will change the way that it thinks about these. You need to manage this worry time.

Problem - Things that we think about are either problems (which are within our control) or worries (which are outside of our control - they may be in the past/future. Negative ones of these should be challenged. Dividing the thoughts into these two areas can help focus on those that we can change.

Possibilities - For any problem list all the options that you can take to solve it, and then choose one of those options to action. Simply working out a number of solutions can help the situation. This possibility listing doesn't have to be within the "worry time" - in fact you could set aside "problem solving time" for this and the next P stage.

Planning - Once you have chosen your option this needs to be planned. The option needs to be divided into steps and targets set for each one. Remember that plans should be SMART (specific, measurable, achievable,  realistic and time-limited)

Postpone - you always have the option of carrying over any problem into the next worry time if it too much to deal with at the time.

Summary

We covered a lot of things in the day. I'm still working out which of these are most useful to me. I found it very useful to get the differentiation between anxiety and depression, but also to spot that there are a lot of overlaps between the two and similar thought patterns can help either.

** September 2018: This post attracts lots of complimentary comments with links to other places, which you can see below. I have no association with any of these and they are not part of my HSP journey. **

A future treatment for HSP?

Spotted this on the BBC news website today:
http://www.bbc.co.uk/news/health-26920521

Essentially, researchers have put an electrical stimulation on the spinal chord below an injury site to allow muscles to be activated. This is, essentially, the same as functional electrical stimulation but with the stimulation being applied to the spine rather than the muscles being stimulated.

This technique is regarded as new and has potential to treat spinal injury. The technique allows patients to make voluntary muscle movements, even several years after their injury.

According to the BBC report there was also an improvement in bowel/bladder function as well, although this is not mentioned in the paper reporting this study.

This paper is available in full free of charge.

"Altering spinal cord excitability enables voluntary movements after chronic complete paralysis in humans." 

1. Claudia A. Angeli, V. Reggie Edgerton, Yury P. Gerasimenko, Susan J. Harkema

http://m.brain.oxfordjournals.org/content/early/2014/04/07/brain.awu038.abstract?sid=da2711a4-5931-4814-aa25-30f6b2d0929e
http://m.brain.oxfordjournals.org/content/early/2014/04/07/brain.awu038.full
doi: 10.1093/brain/awu038

I suppose that the main issue with applying this to HSP is that the degeneration of the spine is quite low down and this may make the electrical stimulation quite tricky. Also there is some mention of the brain using the stimulation to reprogram the existing nerves in the spine, so another issue could be the extent of the degeneration.