Review of 2014

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

Knowledge
Aside from the knowledge of my own symptoms my main knowledge activity this year has been getting further with the analysis of the research papers. This is quite a time consuming task, although it has helped me to appreciate the diversity of research that happens and what topics tie in with HSP. The main publication was early in the year with a study reporting new HSP genes and link with other diseases.

Symptoms
This year has seen a number of firsts - My first appointment with an HSP specialist, my first medication (Detrusitol), and if it weren't for the speed of the NHS system I should have had my first neuro-physio appointment as well. I've also been on a stress/mood management course, seen a bowel specialist and I'm using banisters more when going up and down stairs. I'll have to chalk up 2014 as a year of appointments, although I know already that there will be a fair few in 2015.

This Blog
The readership of this blog continues to increase. I've had more page views in 2014 than I had in 2013. My audience remains broadly the same (predominantly US, UK, Ukraine, France, Germany, Turkey, Russia). The most popular posts are the results of my survey, the various presentations given at the UK HSP Support Group AGMs and my general posts on particular HSP symptoms.

I've had various comments made that people appreciate reading what I have to say, which I'm very pleased to receive and gives another reason why this is a worthwhile thing to do. Just recently I had a conversation with my uncle who commented that when he was first diagnosed with HSP there was not very much information around at all. The most surprising thing I find is that people I know now come up and ask me about it, which I always find quite surprising!

Survey
I was really surprised how much coverage and readership the results of my 2013 survey were when I published them on 28th Feb, and this really set the path in motion for doing this every year. I've already got a few ideas lined up for 2015 and beyond.

I'll follow the same path for the 2014 survey - analysis will start in a week or so's time so I can write up to publish on 28th Feb - Rare disease day. There are still a few more days when I'll be taking answers!

Power Plate/Circulation Booster

My mum got a power plate/circulation booster for her birthday. Looking around these devices seem to come in two varieties.

Firstly, there are the "vibrating plate" type where there are various motors within the plate which cause it to vibrate. One of the main brands is Power Plate. These machines help get muscle tone when exercises are done whilst on the plate. Exercises might include squats, push-ups etc. The vibration causes the muscles to activate by reflex to compensate for the movement of the plate. This is, essentially, anerobic exercise. There are many claims made about what this can do, along with many sceptical people. It seems to me that such a device is unlikely to give massive weight loss, but getting muscles to activate by reflex sounds like there could be some benefits for HSP.

One study I found included someone with HSP which concluded that spasticity decreased in patients with cerebral palsy with the use of these plates.
http://www.medicaljournals.se/jrm/content/download.php%3Fdoi%3D10.1080/16501970600680262
Another shows improvement in walking in a patient with SP.
http://www.ncbi.nlm.nih.gov/pubmed/23045444

The other type of machine is the "circulation booster". This machine applies an electrical current to the soles of your feet to cause the muscles to activate by mimicking the muscle activation signals sent by the brain. The process is called electro muscle stimulation, or EMS. Generally EMS is used to in a number of ways to develop muscle strength. It is also used for rehabilitation and/or to prevent muscle loss/atrophy. Similarly there are weight loss claims which are generally received sceptically.

This technique is similar to FES (functional electrical stimulation). The circulation booster claims to stimulate muscles and improve blood circulation. There are a fair few papers out there which detail FES with HSP, but I couldn't find any for EMS.

To get back to my original line, my mum got one of the circulation boosters. I tried this for half an hour whilst I was there over the summer. I could feel that my muscles were being activated, and by the end of half hour I could feel this in my upper leg muscles too. Of course, half an hour isn't really long enough for a proper assessment, but one for me to bear in mind in the future.

Update on research analysis

I've been keeping myself busy over the last few weeks. Back in 2013 I had downloaded all of the papers on the PubMed database which referenced HSP, but I hadn't really done anything with them. I've now undertaken two passes through the papers getting ready to put a more in depth analysis up on a new page.

I've limited myself to papers with abstracts - so I've got some better information on what information the paper contains, there are just over 1000 of those.

My first pass was to look through the papers and give them a "usefulness" rank. Papers which I thought would be very useful were given the rank of 10, with smaller numbers for papers which were less relevant. My "default" rank for papers on HSP which aren't obviously useful is 4, which allowed me to score lower than this for papers which mention HSP in passing rather than being specifically about HSP (or some aspect of this).

My second pass has been to read all of the abstracts again and divide the papers into categories. Evan Reid had indicated at the AGM in the summer that HSP research could be divided up into three zones, and I wanted to see what these zones looked like. I began with the papers which I had ranked 10, and then worked down the list until I got to rank 4, so there are some 800 papers which I've done this for.

This post is my initial results. I used the set of results which I had previously downloaded, so this includes papers up to some point in 2013.

When I came to go through the papers and categorise them it was obvious that some of my rankings may need adjusting, and that by the time I got a reasonable way through the process my initial thoughts on what the categories should include have changed. Basically, I'm just saying that this is a work in progress.

This is the table of topics:

Topic	Earliest	Latest	Papers
Treatments	1984	2012	20
Clinical studies	1980	2012	93
Clinical and Genetic studies	1981	2013	51
Genetic studies	1996	2012	67
Genetic identification	1983	2013	241
Assessment tools	1975	2013	25
Reviews	1953	2013	34
Models	1998	2013	62
Biology	1976	2013	100
Prevalence	1985	2009	11
Multi-illness studies	1975	2013	113
Uncategorised	1946	2013	376

I've used the "biology" category as a bit of "not sure" category at times, so there may be a few papers in this topic which are not strictly to do with the biology of HSP. Other papers cover a few different topics, so there will be many papers which could easily be put into different categories.

I suspect that readers would be most interested in the treatment category. These papers comprise:

9 papers on Baclofen
3 papers on Botox
2 papers on Levodopa
1 paper each for: Gabapentin, Electrical stimulation, Progabide, Methylphenidate and Ranibizumab
There was one further paper which looked generally at matching drugs to diseases based on genetic analysis.

In addition to some of these papers, my most relevant papers covered:
Depression, bladder function, cognitive performance, sensory function, continence and the prevalence of HSP. All in all there are about 30 papers which I thought would be most useful.

This is how all of those categories look on a graph:

Next steps:

Create a page on this blog to hold such information
Add papers published since end of last trawl
Classify papers with ranks of 3 and below
Review classification and topic designations

Ultimately I'm aiming to draw out analysis for different aspect of HSP, but I'm a way off that yet.

A trip to the bowel doctor

Today I went to see the colorectal surgery team, so thats another part of the health system ticked off. As a reminder, this was suggested by the HSP specialist as I'd been experiencing bowel urgency problems, and this is not viewed as a common HSP symptom.

So, I wasnt sure what to expect on this visit, could it be about seeing if we could rule out other things, or would it be about management of the situation. It turned out to be a bit of both.

In the ruling out of other things front: I was examined, and things are not quite as expected, so I'll have a further appointment to have some nerve tests done, and then we'll hopefully know a bit more. The specialist I saw has not had any previous experience with HSP.

here's a description of things I've learnt about the bowel today:

Your bowel is controlled by two sphincter muscles, an inner one and an outer one. The inner one stays tight all of the time, and its main job is to prevent leakage. This muscle is not one which you have control over. The outer sphincter also stays closed all the time, but you control over this one, which allows you to choose when you want to go.

There are two types of incontinence - one where you know that you've got a problem - and the issue is getting to the toilet in time, and another when you dont know you've got a problem - and you end up with a mess to deal with.

On the management front:

Management strategy 1: It is possible to re-train the muscles for some people. But the general thought was that as the correct messages are likely as not failing to get through, this strategy may not work.

Management strategy 2: Use Loperamide / Imodium. Some people are on this all the time. This can help by making your stool/faeces/feces firmer, and therefore giving a bit more time to get to the toilet. However, as my urgency issue is not predictable this makes it difficult to use pro-actively. It could be taken when loose stools are noticed, or taken when it is known that you may have difficulty finding a toilet in time.

Management strategy 3: This was mentioned in passing, and not appropriate for me now. You can get a home colonic irrigation kit. Some people will use this 2-3 times a week, and others will use this after they have been once, which then makes you empty for a while, meaning that you cant have any incidents.

These are the management strategies which were mentioned, suggesting that there are some more. Perhaps I'll find out more at my next appointment. The one which springs to mind is checking that my diet helps the situation rather than hinders it.

So, in conclusion, it looks like I'll need to go to the chemist and get some imodium to add to my collection of tablets. I'll need to understand how quickly this works and how long it lasts.

Reversing Paralysis - Spinal Cord Regeneration

This week (in the UK) there has been a very interesting story in the news - A man in Poland has been able to walk after surgery to repair his spinal cord. He had been paralysed from the chest down after a knife attack in 2010.

You can read the news story here:
http://www.bbc.co.uk/news/health-29645760
http://www.theguardian.com/science/2014/oct/21/paralysed-darek-fidyka-pioneering-surgery
http://thenextstepsci.org.au/research/

This was featured in the BBC Panorama program, which you can watch on the BBC iPlayer until Oct 2015: http://www.bbc.co.uk/programmes/b04mm8zl

I watched the program after hearing about the story on the news, with a thought that this may yield a treatment for HSP. Here is my take on the story (as presented on Panorama).

Researchers had identified that the olfactory system (sense of smell) was the only system in the human body where nerves were continually regenerated throughout life. In all other systems nerves, once damaged, do not re-grow.

Much research has been done over many years to identify if the olfactory cells could be used to encourage re-growth in other nerve systems, with work being undertaken at UCL (University College London) -  Professor Geoffrey Raisman featured on the program. They had undertaken research with mice which had shown potential. Olfactory ensheathing cells (OECs) were shown to regenerate the olfactory nerves, and the research involved extracting these cells and transplanting them to examine if they would regenerate other nerves.

The research had concluded that the cells needed to be extracted from the olfactory bulb, which is located in the brain. This means that very invasive surgery is needed to extract them - the program didnt go into the details of the cell extraction.

A team in Poland, led by Dr Pawel Tabakow of Wroclaw Medical University, was keen to take this further. Darek Fidyka had been paralysed from the chest down after a knife attack in 2010. He volunteered to undergo the surgery to extract the cells from his olfactory bulbs. These cells were then grown in the lab for a couple of weeks before being injected into the spinal cord at the injury site.

The story showed the operation to implant the cells into the spinal cord. The damage site was bigger than expected from the various MRI scans - half an inch (10-15mm) rather than a nice clean slice. There was a small section of cord which was intact, but most of it had gone in the attack. The view was that whilst the cells would encourage nerve re-growth they would not bridge this gap, so a section of nerve from the ankle was inserted to form a bridge. Some cells were injected into the section of the cord which remained, but most were injected into the spinal cord either side of the bridge. They were only able to extract a very small amount of these cells, which remained a small amount even after 2 weeks growth in the lab. It was quite amazing to see the surgery.

The surgery was undertaken in 2012. After a few months intense physiotherapy there was some activity, and this developed over the next two years such that there was muscle re-growth, control from the brain and the brain was receiving feedback - i.e. there was re-establishment of 2-way communication through the spinal cord. Darek was also able to regain some bladder, bowel and sexual function again. After two years he was able to walk again and is able to drive.

This is one example. The research had been conducted to demonstrate that the surgery and cell implants had done the job, although there is still some scepticism. The next steps for this research is to repeat the process in a few more patients which give a much more robust dataset to demonstrate that it works.

The story mentioned that the results were published, so that the scientific community can scrutinise them. That article (or at least an abstract for it) can be found here:
http://www.ncbi.nlm.nih.gov/pubmed/25338642

My take on the key points are:

• Invasive surgery is needed to extract the cells
• Invasive survey is needed to inject the cells into the spine
• The procedure was shown to work at a small site where there was relatively clean damage of the cord
• Other sections of nerve can be used to act as a bridge to replace missing parts of the spinal cord
• It is a long and hard process getting movement back
• The repair seemed to have benefits in other lower body functions

So the question I consider is: how likely is it, given that our spasticity is like paralysis, that this kind of treatment could be used for HSP?

My understanding is that the degeneration of the nerves in HSP is along the nerves rather than across them, and they degenerate from the end, rather than at a place mid-way along the spinal cord. The main problem, from my limited understanding, is that in HSP the nerves degenerate from the end, so I suspect that even if a long piece of nerve could be used to bridge over the degenerated area of the spinal column the issue will be that the join between the upper motor neurons and lower motor neurons would still be missing. So my suspicion is that unless a "bridge" can be created between upper and lower motor neurons, this is unlikely to help people with HSP in the short term.

However, the program was keen to point out that this effectively showed proof of concept, and that the researchers were keen to share their knowledge. This may mean that the technique or the knowledge may be used to help understanding or provide new ideas for treatment. The comparison was made in the programme with antibiotics - we take these as a given now, but re-wind about a hundred years (to 1928) and Alexander Flemming first discovered the antibiotic effects of Penicillin. Now we have many many more antibiotics which are much more powerful than Penicillin, but that was the starting point. Perhaps that kind of path can follow from this process.

Symptoms Update (and a trip to the Doctor)

I mentioned a few months ago (in May: http://hspjourney.blogspot.co.uk/2014/05/hsp-clinic-visit.html) my visit to the HSP Clinic at the National Hospital in London. Not long after that I received a copy of a letter which had been written to my doctor in order to take further the various things which we had discussed at the HSP Clinic.

It was only after a few months had passed that I realised that nothing seemed to be happening, and I popped in to the doctors. Waiting in the box behind the counter was a prescription for Detrusitol, which had been sitting there since June, but nothing else had happened. It seems that I should have made an appointment to discuss these. So, that is what I have done.

The main function of my trip to the doctors was to move forward the various appointments that had been suggested at the Clinic, and these are now starting to come through. Readers outside the UK may be interested to know that I get a letter which allows me to go onto a website and choose my own appointment (and if it wasnt a specialist I was seeing, I'd be able to choose where I went too).

So, thats put the whole thing back by a few months, and its made me realise that I have to be the one who drives the process forward. Despite any best interests or good meaning, there is only one person who is responsible for me seeing the various specialists, and that person is myself [This is something I picked up from a seminar at work some years ago in the context of personal development - you are the only person responsible for your training and progress. There is no point trying to blame someone else/the system if you dont do what you want to do].

Back to the first part of the topic title - symptoms update....

I've now been taking Detrusitol for about 3 weeks. My prescription is for Detrusitol XL (a 4mg dose) and I take one tablet per day. The active ingredient in this medicine is tolterodine, and it is taken for overactive bladders. Other names for this medication include Detrol, My doctor said that there are other medicines available which achieve the same outcomes.

I noticed a reduction in urgency pretty immediately with this medicine, which is a good thing! I've not noticed that I've been going to the toilet any less frequently, but the drop in urgency is a real benefit.

The most common side effect is a dry mouth, which I get. Of course, my first reaction with a dry mouth is to have a glass of water, which perhaps goes somewhat against the grain of the objectives as I'm just filling my bladder up more quickly!

I havent really noticed any other side effects, which means that either they are not there, or they are not at a level which I would notice. The other common ones include tiredness, fatigue and headaches. I get bothered by these sometimes anyway, and I've not noticed them appearing more often in the last few weeks. 

The other main symptom update to report is my use of the stairs. I realise now that I'm actively using the bannister/hand-rail to get up and down to majority of stairs, whereas a few years ago I didn't need to at all. This is a subtle change. I do this more for steadiness than for balance/trips/falls, and I can still nip up and down stairs without using them. Just yesterday evening I arrived back to my nearest train station and walked up the steps to cross the footbridge - the handrails were filthy, but I still continued to use them (it had been a long day, I'd been on the go for about 17 hours). I must send the station an e-mail about this.

One final point for today on symptoms is to note that I bought a new pair of shoes the other week. I only mention this so when I next need to replace them I can find out how long I've had them.

Various Tolterodine / Detrusitol links:
http://www.patient.co.uk/medicine/tolterodine
http://en.wikipedia.org/wiki/Tolterodine
http://www.medicines.org.uk/emc/medicine/7685/SPC/Detrusitol+XL+4mg/
http://www.nhs.uk/medicine-guides/pages/MedicineOverview.aspx?condition=Urinary%20retention%20and%20incontinence&medicine=Tolterodine%20tartrate&preparationTolterodine%204mg%20modified-release%20capsules
http://www.nlm.nih.gov/medlineplus/druginfo/meds/a699026.html
http://www.nhs.uk/medicine-guides/pages/selectorshow.aspx?medicine=Detrusitol
http://www.netdoctor.co.uk/seniors-health/medicines/detrusitol.html

Autumnal Survey 2014

Update: This 2014 survey is now closed. For details of the results of this survey and any current surveys, please see this page: http://hspjourney.blogspot.co.uk/p/my-on-line-resarch.html

Original Post:
After the success of my survey last year, the results of which has given me my most read page, I decided to undertake another survey this year.

My main focus for this survey is medication so that I can understand the range of medication used by people with HSP. So I've put a handful of questions together about this. I also touch on diet, exercise and relaxation to get a more complete picture.

Like last year I will collect results until around the end of the year and analyse these to publish on rare disease day 28th Feb 2015.

Also like last year, all questions are optional, and I don't collect any personal info apart from your name. If you took part last time, I'd appreciate using the same name to allow tracking.

I would appreciate any readers with HSP to complete this.
http://www.surveygizmo.com/s3/1797674/HSP-Medication-diet-and-exercise

Since I published the results of last years survey there have been a few more responses which I can analyse.

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.

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. **