The ALS Ice Bucket Challenge

Many people have seen or heard of the ALS Ice Bucket Challenge. I watched this through facebook and it circled closer and closer to me with friends and family being challenged and then nominating on. [Feb 17 - realised I hadn't included the video, now at the bottom]


I had spotted that ALS was a mis-diagnosis for HSP in my survey last year, and so I thought about the similarities and differences between them.

So, I start with a definition:
Motor Neuron Disease can refer either to the most commonly occurring form - ALS (Amyotrophic Lateral Sclerosis) also known as Lou Gherig's disease, or to the broader spectrum of conditions.

Motor Neuron Diseases (MND) are a group of neurological disorders that affect motor neurons in adults and in children.  Motor neurons are specific types of cells that control voluntary muscle activities such as speaking, walking, and breathing.  http://www.alsconsortium.org/motor_neuron_disease.php 

Everyone who has looked up HSP on the internet must have read "Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders" (today, copied from the SPF website). HSP is a neurological disease because the long nerves in the spine are gradually degenerating - the nerves are the neurological system (paraphrased from HSP Research Foundation).

HSP

The one paragraph description of HSP (with parts borrowed from both previous links) is:
The primary features of HSP are spasticity and weakness in the legs, varying between individuals. There is progressive difficulty walking and symptoms worsen over time. Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling. Changes begin gradually. As the disease progresses, canes, walkers and eventually wheelchairs may become needed, although some people never require assistive devices. A wide variety of symptoms are observed across cases and over time, including balance, fatigue, bladder and back pain. The majority of individuals with HSP have a normal life expectancy. [Jan 2015 update - this refers to people with uncomplicated HSP]

ALS

Whereas ALS describes as (NHS: http://www.nhs.uk/conditions/Motor-neurone-disease/Pages/Introduction.aspx)

The symptoms of motor neurone disease begin gradually over weeks and months. Common early symptoms are: weakened grip, weakness at the shoulder, "foot drop", dragging of the leg, slurred speech.  As damage progresses, symptoms spread to other parts of the body and the condition becomes more debilitating. Eventually, a person with motor neurone disease may be unable to move. They may also find communicating, swallowing and breathing difficult. The condition is not usually painful. ALS is a severely life-shortening condition for most people. Life expectancy for about half of those with the condition is three to four years from the start of symptoms.

PLS

Primary lateral sclerosis (PLS) slowly gives rise to progressive weakness in voluntary muscle movement. The first symptoms are often tripping or difficulty lifting the legs. The disorder often affects the legs first, followed by the body, trunk, arms and hands, and, finally the bulbar muscles (muscles that control speech, swallowing, and chewing). PLS progresses gradually over a number of years, or even decades.  Life expectancy is normal.

Summary

I wont go further and list any other types of motor neuron disease, but note the similarities:

• Early symptoms for all three are similar.
• All three cause upper motor neurons to degenerate (those from the brain down into the spine)

And the differences:

• ALS and PLS progress to more parts of the body
• Life expectancy for ALS is reduced.

It depends where you read to see if HSP is included within the motor neurone disease list or not. I certainly found some websites which did and others which didnt.

I take the view that all this ALS ice bucket challenge activity raises awareness of diseases caused by degeneration of the nervous system, and that with all such causes it is down to the participants to personalise their message to encourage others to donate money. On this basis when I was nominated I donated to the UK HSP support group, and several friends and family who were nominated at around the same time did so as well.

Naturally, I write this with my own diagnosis safely under my belt, but having read up more about these other diseases, I can picture the trauma which people go through before getting their own diagnosis.

If there are any readers who were not lucky enough to be nominated for the ice bucket challenge and would like to make a donation, then I encourage you to do so, even if you dont empty a bucket of icy water over your own head. If you're stuck to find a relevant charity which you would like to donate to, then why not choose the UK HSP support group? http://www.hspgroup.org/ 

You can read Wikipedia's ice bucket challenge story here too: http://en.wikipedia.org/wiki/Ice_Bucket_Challenge it would seem that golfer Chris Kennedy was the first to nominate/donate for ALS on July 15 2014, and former basketball player Pete Frates who has ALS and is a patient advocate began spreading the ALS word through Twitter. 

Ataxia

I think it is worth pointing out here as well, the other major mis-diagnoses for HSP in my survey were ataxias (MS, ataxia, Spinocerebellar Ataxia)

(http://www.nhs.uk/Conditions/Ataxia/Pages/Introduction.aspx) These are diseases which affect co-ordination, balance and speech, usually as a result of damage to the brain. The symptoms of ataxia can affect every part of the body and cause difficulties with: walking, balance, speaking, vision, swallowing or tasks that require a high degree of physical control, such as writing and eating. There are currently more than 50 recorded types of ataxia, which fall in three broad categoriess.

• acquired ataxia – from trauma, stroke, multiple sclerosis (MS), brain tumour etc.
• hereditary ataxia – develops slowly over many years from underlying genetics 
• idiopathic late onset cerebellar ataxia (ILOCA) – progressively damaged over time for reasons that are still unclear

The key difference from HSP is that Ataxias affect the brain rather than the nerves, even though some of the symptoms appear the same. I note, of course, that complex forms of HSP affect the structure or functioning of the brain, and I can picture the trauma associated with difficulties getting a clear diagnosis.

It is also clear that there is a fair degree of cross-over here - some of the HSP groups on Facebook are for HSP and PLS people, and indeed that is the focus of the US SP Foundation: http://sp-foundation.org/. Also the SPATAX network groups together researchs in spastic paraplegia and ataxia: http://spatax.wordpress.com/.

Feb 2017 Video Addition

So, you want to see me getting iced? - here it is:

AGM2014: Sportability - David Heard

This post is the final one in the set of my AGM posts. Those that were there know that after this presentation Jon Marsden spoke about telehealthcare and telerehabilitation, but I've already grouped that together with the other Plymouth talk previously.

David talked about Sportability, which he was one of the founding members of. Sportability was set up about 25 years ago, with the aim of providing access to sporting events to people with paralysis. This would include not only people with HSP but also people with spinal cord injury, stroke or MS.

David shared with us some stories about people who had used Sportability and gave us examples of what people had felt after taking part. The range of sports which are on offer include riding quad-bikes, archery, canoeing, sailing, scuba diving and so on. (their website http://www.sportability.org.uk/index.php?id=3 says "archery, angling, abseiling, canoeing quad-biking, gliding, clay pigeon shooting, motor-sport and more." the list of activities also includes falconry, jet-skiing, marshall arts, tennis and blokarting)

Some people who participate in the activities may have been keen participants of those sports earlier in their lives, whereas others will be trying sports for the first time. People feel a range of emotions from this, some of which are positive - for example, there is excitement and the feeling that something can be done again, and there may also be negative thoughts - for example reinforcing the perception of being disabled.

David said that one of the main outcomes from people taking part in sport were psychological benefits. Undertaking a sport either again or for the first time can begin to re-build a persons confidence and self esteem. These activities can also help to re-define someone's horizons, and people can begin to think that if they can do this, then what else can they achieve. Overall, participation in such activities can help put some purpose back into someone's life as well as getting a good shot of adrenaline as well.

David had a good selection of photos and videos of people taking part in some of these, and it was good to hear the genuine happiness and excitement of the participants. David also shared with us how different some bookings can be, in some instances people call up with a definite idea of what they want to do and are prepared to travel to take part, whereas others are not sure and David gave examples of the "negotiation process" with some people in order that they convince themselves that they really do want to take part.

Sportability aims to remove barriers to participation. So, all activities are free of charge, and there are a number of regions all over the country offering different activities. the Sportability strap line is "taking the dis out of disability". Sportabiliy is a charity and all activities are funded by donations, so people may like to consider this as a good recipient for fundraising activities they organise or take part in.

You can find out more about Sportability here: http://www.sportability.org.uk/

Personally, I hadnt really thought about this side of things before, but I can see that this is a really good way of helping people get some self-improvements. A lot of the comments that David made tied in well with what was said at the mood management course I went on a few months ago (http://hspjourney.blogspot.co.uk/2014/04/stress-and-mood-management.html) - Exercise and being with other people reduce stress, Taking part in a new activity can help break out of the depression cycle,  Getting a rush of adrenaline in a new situation may get you a new set of symptoms and help you think about anxiety differently.

I can also picture how important the potential for allowing people to re-define their horizons is, and I think that many people will get a lot more out of doing this than they ever thought about beforehand. This sounds like an excellent thing to bear in mind down the line when I'm less able to do what I want.

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.