Symptoms update

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

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

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

HSP Clinic Visit

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

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

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

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

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

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

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

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

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

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

Stress and mood management

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

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

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

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

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

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

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

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

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

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

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

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

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

We then moved onto the natural course of anxiety:

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

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

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

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

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

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

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

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

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

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

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

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

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

The stress beaker

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

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

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

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

Thoughts and Feelings

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

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

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

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

There are four steps to challenging unhelpful thoughts:

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

Rules for living

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

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

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

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

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

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

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

Communication

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

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

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

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

Problem Solving

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

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

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

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

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

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

Summary

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

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

A future treatment for HSP?

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

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

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

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

This paper is available in full free of charge.

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

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

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

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

Toilet finders

I'm noticing that I'm needing to be aware of where toilets are as I go about my life. I'd not really thought about it until now, but I suppose I'm just clocking their locations in my head and estimating how long it would take me to get there and the best route should I have a need to go.

I happened to spot this website on twitter the other day, and that was the genesis of this post.
http://greatbritishpublictoiletmap.rca.ac.uk/

This site indicates that it is predominantly focussed on London (given that there are more local authorities there that are making their toilet data available for this kind of thing), but even so many of the toilets near my part of Bristol are also shown, so it suggests it is an evolving site, and I think this should be encouraged - you can comment on this by e-mailing them http://greatbritishpublictoiletmap.rca.ac.uk/#page-about

Of course, there are several different attempts to do the same thing on the internet, so looking at UK ones I also quickly found: http://www.toiletfinder.org/about and http://www.elbatrop.com/toilets There are others, but this gives a flavour.

I know that there is also the Radar key for disabled toilets, and this has a website too:
http://nks.directenquiries.com/nks/page.aspx?pageid=10&tab=National+Key+Scheme&level=2

Naturally, some of this information is available as an app, so you can search for these on your phone/tablet.
https://play.google.com/store/apps/details?id=com.bto.toilet
https://play.google.com/store/apps/details?id=com.andromo.dev58318.app63800
https://play.google.com/store/apps/details?id=com.elbatrop.toilets
And, the Radar one:
https://itunes.apple.com/gb/app/radar-national-key-scheme-app/id490642425?mt=8

And herein opens up the door to find apps which have toilets shown for other parts of the world (and an interesting collection of toilet related games.....)

Stress and depression tests.

After my recent trip to the doctor I was referred  to my local psychology unit. I called them and arranged to go in for a chat. Their approach is based on a Stepped-Care LIFT (Least Intervention First Time) model. This means that they offer services in a tiered approach where the most commonly helpful support is tried first.

Part of this visit involved tests for anxiety/stress and depression. I've found these tests on-line so that any readers wishing to assess themselves can do so.

The Generalised Anxiety Disorder Questionnaire (GAD-7) is described as an easy to use self-administered patient questionnaire is used as a screening tool and severity measure for Generalised Anxiety Disorder. Scores of 5, 10, and 15 are taken as the cut off points for mild, moderate, and severe anxiety, respectively. When this is used as a screening tool, further evaluation is recommended when the score is 10 or greater.

http://www.patient.co.uk/doctor/generalised-anxiety-disorder-assessment-gad-7

The Patient Health Questionnaire (PHQ-9) is described as an easy to self-administered version of the PRIME-MD diagnostic instrument for common mental disorders. It is noted that it is *not* a screening tool for depression but is used to monitor the severity of depression and response to treatment. However, it can be used to make a tentative diagnosis of depression in at-risk populations. People can draw their own conclusions about if long term health conditions are "at risk". The scores give an indication of depression severity as follows: 0-4 none, 5-9 mild, 10-14 moderate, 15-19 moderately severe, 20-27 severe.
http://www.patient.co.uk/doctor/patient-health-questionnaire-phq-9

I scored "moderate" on the anxiety and "mild" on the depression. My next step is to go on a "stress and mood management" course. Which I'll report back on after.

2013 HSP Survey Results

So, it is rare disease day again (Well, as i write, it is in India....). I am pleased to publish the results of the HSP survey which I launched in September. Many thanks are due to the 121 people who gave their time and completed the survey - this wouldnt have been possible without you.

The full set of analysis can be found here: 
https://drive.google.com/file/d/0BzEoTkR5HCWhTlFsY3k0Y1IzWlE/view?usp=share_link&resourcekey=0-43aaHBAVgWE0JxllK6FFOg

Here is a short version of the 2013 survey results....

This is a summary of the results of a survey which I launched in September 2013. There were 121 respondents who completed the survey, predominantly from the USA and the UK, but also Europe, Canada, Australia, India and South Africa.

Mobility Analysis

Answers were given by 116 respondents. Just over half of respondents use walking sticks/poles/crutches/canes and around a third of respondents use a wheelchair or mobility scooter. FES is the mobility aid used by the least number of people, with a take-up of around 5%.

Mobility Aids Used - Summary:	Respondents	Percentage
Using sticks/poles/crutches/canes	62	53%
Using Wheelchair/Mobility Scooter	40	34%
Using Orthotics/AFO	33	28%
Using Walking Frame/Rollator	31	27%
Using FES	7	6%

In the remainder of this paper whenever “sticks” are referred to as a mobility aid this term includes poles, crutches and canes. Whenever “frames” are referred to this includes both walking frames and rollators. Whenever “chairs” are referred to this includes both wheelchairs and mobility scooters. Whenever AFO is mentioned it refers to Orthotics and AFO.

The results also allow the distribution of respondents within a scale of mobility. I have devised an “HSP mobility score” which then allows me to cross-reference mobility against the other questions in the questionnaire. The definition of the HSP mobility score is;

1. Can walk without aids but some effects
2. Orthotics/AFO/FES and/or Sticks/Poles/Crutches/Canes some of the time
3. Sticks/Poles/Crutches/Canes and Frame/Chair some of the time
4. Sticks/Poles/Crutches/Canes most of the time
5. Sticks/Poles/Crutches/Canes all of the time
6. Rollator/Walking frame most of the time
7. Rollator/Walking frame all of the time
8. Wheelchair/Mobility scooter most of the time
9. Wheelchair/Mobility scooter all of the time

Change in Mobility

One question asked people to describe how their mobility had changed over the last five years. I interpreted these results such that anyone who was either developing their first symptoms or gaining an increase in mobility score by up to around 2 was described as having a “low” change in mobility. Those who gained an increase in mobility score of around 3-4 would have a “medium” change in mobility, and those with an increase greater than around 4 would have a “high” change in mobility. 81 respondents provided enough information for me to attempt an interpretation, as shown in the following table.

5 Year Change in Mobility	Respondents	Percentage
Low	62	77%
Medium	17	21%
High	2	2%

This shows that generally changes in mobility are quite slow, with the majority (three quarters) of respondents having a low change over 5 years. There are a small number of patients, probably less than 5%, who will experience significant changes in mobility over a five year period.

Symptoms Analysis

I found 13 symptoms which occur often in descriptions of HSP and asked respondents if these symptoms were an issue for them or not. For each symptom respondents selected the most appropriate from a list of choices, which I have grouped into severity bands;

Severity	Severity Band
Do not have	-
Occasional symptom	Minor
Minor symptom	Minor
Frequent symptom	Significant, Moderate
Regular symptom	Significant, Moderate
Most of the time	Significant, Major
All of the time	Significant, Major

The following table shows the percentage of respondents with each of the symptoms, ordered by frequency – the most frequently occurring severe symptoms at the top.

Symptom	Do not have	Minor	Significant
Loss of balance	4	26	70
More stiff in the cold	4	29	67
Fatigue	8	30	62
Bladder problems	18	39	43
Stress	19	42	39
Back pain	22	42	36
Clonus (jumping feet)	30	37	34
Numbness	31	36	33
Depression	34	34	32
Bowel problems	39	36	25
Loss of vibration sensitivity in legs	39	37	24
Pes cavus	48	15	38
Hammer toes	53	18	28

This shows that the two symptoms which affect people the most are loss of balance and getting more stiff when it is cold, which is a significant issue for 70% of respondents, and an issue for more than 95% of respondents. Fatigue affects more than 90% of respondents and is a significant issue for more than 60%.

Bladder problems, stress and back pain affect around 80% of respondents, significantly in about half of those. Clonus, numbness and depression affect around 70% of respondents, and show a similar pattern where half of those affected are significantly so.

Bowel problems and loss of vibration sensitivity affect around 60% of respondents. These symptoms appear to be significant for a smaller proportion of respondents. Pes cavus and hammer toes affect the smallest proportion of respondents, around 50%, and these symptoms appear to be significant for a greater proportion of respondents.

Symptoms - Analysis of Symptoms against Mobility

For a more detailed analysis I grouped the respondents into groups according to mobility;

Number of Symptoms – walking unaided

Those who can walk unaided tend to have 4-5 minor symptoms, up to three moderate symptoms and no major symptoms. All respondents in this group had at least three symptoms, at least two of which were minor.

Minor symptoms are likely to include Loss of Balance, Stiffness in the Cold and Fatigue, and may include Bladder problems, Stress, Back Pain, Clonus, Numbness or Bowel problems. Moderate or major problems may include Stiffness in the Cold, Fatigue, Stress, Back Pain, Clonus or Numbness.

Number of Symptoms – use aids some of the time

Those who use mobility aids some of the time tend to have 4-5 minor symptoms, up to three moderate symptoms and up to one major symptom. All of the respondents in this group had at least five symptoms, at least one of which was minor.

Minor symptoms are likely to include Loss of Balance, Stiffness in the Cold and Fatigue, and may include Bladder problems, Stress, Back Pain, Clonus, Numbness or Bowel problems. Moderate or major problems may include Stiffness in the Cold, Fatigue, Stress, Back Pain, Clonus or Numbness.

Number of Symptoms – using mobility aids all or most of the time

Those who use mobility aids all or most of the time tend to have 2-5 minor symptoms, up to 5 moderate symptoms and up to 5 major symptoms. All of the respondents in this group had at least 7 symptoms.

Minor symptoms may include Bladder problems, Stress, Back Pain, Clonus, Numbness, Depression, Bowel Problems and loss of vibration sensitivity in the legs. Moderate or major problems may include Loss of Balance, Stiffness in the Cold, Bladder problems, Stress, Depression, Bowel Problems, Pes Cavus or Hammer Toes.

Mis-diagnoses

One question asked people what they had been diagnosed with before getting their HSP diagnosis. 100 respondents answered this question. 20 respondents indicated that they had been correctly diagnosed with HSP the first time.

The 80 respondents who had been mis-diagnosed gave in total 126 different misdiagnoses. Some respondents listed just one misdiagnosis, whereas others listed a great many. In total there were 59 different conditions listed. Twelve of these were given at least three times accounting for nearly 60% of mis-diagnoses, as shown in the following table;

Mis-diagnosis	Number of diagnoses
Multiple Sclerosis (MS)	19
Cerebral Palsy	12
Arthritis	6
Charcot-Marie-Tooth disease (CMT)	6
Neuropathy	5
Ataxia	4
Motor Neurone disease - Primary Lateral Sclerosis (PLS)	4
Cerebral Palsy - Spastic Diplegia	4
Muscular Dystrophy (MD)	3
Motor Neurone disease - Amyotrophic Lateral Sclerosis (ALS)	3
Peripheral Neuropathy	3
Spinocerebellar Ataxia	3

Like this? in other years:
Overview of all my surveys: http://hspjourney.blogspot.co.uk/p/my-on-line-resarch.html
2016: Fatigue, bladder, bowel & information: http://hspjourney.blogspot.co.uk/2017/02/2016-survey-results.html
2015: Modifications at home, depression, quality of life: http://hspjourney.blogspot.co.uk/2016/02/2015-survey-results.html
2014: Medication, exercise & relaxation: http://hspjourney.blogspot.co.uk/2015/02/2014-survey-results.html