Review of 2019

Another year has passed, and again I take the opportunity to reflect on the years activities.

Knowledge

The latter part of the year has seen quite a bit of new research published. I started the year with an overview of published research from 2018 and there have been several posts on other investigations throughout the year. I also gained lots of knowledge from my involvement with EuroHSP and by attending the Spatax meeting. This year there seems to have been more papers which are starting to look at some of the wider context that those with HSP find themselves in.

Symptoms

This has been another year without much change. I haven't had any HSP appointments this year. I've another new shoes post to write in the new year. Through the year I have noted subtle changes in my bladder, sleep, using stairs and driving. I think that I am a bit slower and am finding things a bit more difficult, however I have also walked up Scafell Pike, ridden 100km on a bike and stood up throughout a gig, so I must remember that this progress is not all negative, there is still plenty which I can do! Overall, it has been a busy year with lots going on for me outside the HSP world.  

This Blog

I'm really pleased with the continuing growth in readership of this blog. My audience remains broadly the same (predominantly UK, USA, Canada, Australia, and then European countries) although this year I have picked up Brazil and India. The most popular posts continue to be the questions for and results of my survey, as well as my general posts on research and particular HSP symptoms. 

I'm really pleased that blog posts continue to be linked to and used within other HSP and RareDisease publications. Thank you to all my readers, including those that give comments appreciating what I have to say. Feedback like this gives me another reason why this is a worthwhile thing to do. Thank you to anyone that makes a comment or connects up with me in some other way. 

Survey

The now annual pattern of my surveys is well established. My 2019 survey has a similar number of responses to my 2018 and 2017 surveys. Following collaboration with the Brazilian HSP group last year, my new feature this year has been to offer the survey up in several languages so people can answer the questions in their own language. This is yielding more results than last years translation sheets, which is good. Some languages are more popular than others, which seems to be driven by the support groups in those countries letting their members know about the survey. If you're reading this and want to take part in this survey, then (providing it is still 2019) please do! Results will be out on 29th Feb after the majority of analysis during January.

Community Contribution

HSP Community activities for 2019 included:

• Expanding my survey into more languages
• Taking part in a Disability & Inclusion panel discussion at work
• Attending the SPATAX meeting and a EuroHSP meeting
• Analysing and reporting the results of my survey to share with the HSP world
• Coordinating the UK HSP Support Group response to consultations
• Continuing this blog and posting/discussing HSP things on twitter.
• Starting next year, working more with PARCC

The main element of my community contribution comes from being chair of the HSP group. There are still many issues, and I'm working with the rest of the trustees to ensure that the group continues to support its members in the most appropriate way.

Recent News Stories

There have been several things which have caught my eye in recent weeks - here is an overview:

Strength Training for Depression.

This story caught my attention as depression is a common symptom with HSP. It is well researched that exercise helps with depression, but most studies have tested aerobic exercise. This study tested if strength training would have a similar benefit. The study looked at older people who had been diagnosed with a major depressive disorder, and showed that strength training does have benefits. I wonder if strength training might be more appropriate than aerobic training for some with HSP.   https://www.karger.com/Article/Abstract/503750

More Challenge Needed!

An Italian paper reports examining quality of life against daily activities for 35 people with HSP. The daily life of many with HSP presents a low challenge. People who work (i.e. undertaking productive tasks) are more active than those who dont, but are less happy, however when the work is seen to be relevant or complex the experience is better. Persons with motor disabilities would benefit from more challenging opportunities for action in daily life, in order to attain well-being through active skill mobilisation. https://hspersunite.org.au/more-challenge-needed-in-daily-life/

Cannabis Based Medicinal Products Guidelines

NICE in the UK have published their guidelines for cannabis based medicinal products. A lack of evidence that such products give benefits for spasticity mean that it can only be prescribed as part of a research trial. I will write a full blog post about this next year: https://www.nice.org.uk/guidance/ng144

Development of Artificial Nerves and Neurons

This story reports the development of artificial neurons which replicate the functions of real neurons, effectively offering an alternative pathway for nerve signals to use. The article mentions that there is potential for this to be used in diseases with neuronal degeneration, they give the example Alzheimer's, and I wonder if there is potential for this with HSP.  https://neurosciencenews.com/artificial-neurons-15279/

This story is similar, and reports an artificial nerve. Tests on this nerve showed that they were able to activate muscles in a cockroach. Similarly, I wonder of the scope for using this type of approach to regain function in muscles affected by HSP.  https://www.sciencemag.org/news/2018/05/new-artificial-nerves-could-transform-prosthetics

Rehabilitation Perspectives

This is an interesting paper - it presents the contrast between different perspectives when looking at rehabilitation. From a medical perspective a disability is a malfunctioning body part, and therefore there is a biological problem to be fixed. On the other hand, social models of disability put forward that this is a construct of unequal practices and access, and is a social oppression.  There is an interesting discussion around how impairments are often seen as inferior, which puts a negative perspective on disability. It suggests that both perspectives together could be a useful basis for setting out a rehabilitation programme. https://www.jhrehab.org/2019/11/14/making-the-case-for-critical-disability-studies-with-rehabilitation-sciences/

Link between cholesterol processing and HSP.

This recent report identifies that many of the genes affected by HSP are involved in the processing of cholesterol and/or other fats in cells - lipids. There is an imbalance in lipids in both HSP and MND, and further work is required to determine if the imbalance is the cause of HSP or a consequence of HSP. I can see that this has potential to be an important peice of work. 2 links given, one to the news:  https://www.bbc.co.uk/news/health-50821327 and another to the full article:
https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awz382/5679762?searchresult=1

Wheelchair Skills Training

I liked the look of this wheelchair skills training: https://www.freedomwheelchairskills.co.uk/

Spatax Meeting - Posters

This post covers some of the posters which were up at the Spatax meeting. I have focused on those which were of interest to me, mostly with an HSP focus. I have given the number of the poster, and all abstracts can be found here: https://spatax.files.wordpress.com/2019/10/booklet_2019-version-en-ligne.pdf

Speech Patterns in HSP

Researchers in Brazil have examined speech patterns in a group of 34 patients with the most common types of HSP. (Characterisation of speech patterns in Hereditary Spastic Paraplegia) They aimed to characterise dysarthria in the most prevalent forms of HSP. Analysis of those patients with SPG4 and SPG11 is presented. All with SPG11 had dysarthria. Between 20 and 60% of SPG4 patients showed differing effects. The conclusion is that mild dysarthria is present in both SPG4 and SPG11, and there is a greater impact on speech ineligibility for people with SPG11.  (poster abstract 60)

Cognitive Effects of HSP

Researchers in Brazil have examined cognitive changes in a group of 54 patients with various types of HSP. (Are Cognitive Changes in Hereditary Spastic Paraplegia Restricted to Complicated Forms?) They aimed to characterise cognitive functions of patients with pure and complicated HSP. A variety of screening tests and cognitive function tests were used. Most SPG4 (a pure HSP) presented cognitive changes which not compatible with dementia, with effects in memory, attention and executive funcitons. SPG5 (can be pure or complicated) scored lower in executive function and memory. SPG7 (can be pure of complicated) performed poorly on memory. All functions were markedly altered in CTX and SPG11 patients. The conclusion is that cognitive abnormalities are frequent in both pure and complicated forms of HSP, being more severe in complicated forms. (poster abstract 64)

EuroHSP - Mission and Goals

Information was given about EuroHSP. The group represents 10 national HSP associations from Europe. Their strategic goals are to provide a strong voice for HSP patients at a European level, to support member organisations to be more effective and sustainable, To influence the HSP research agenda so it is more focussed on patient-centric outcomes, and to secure the support of key researchers. (poster abstract 68)

Sequencing of 812 people

Researchers in Paris, France (and other places) have developed a kit to analyse 70 HSP genes in 812 people with HSP (Hereditary Spastic Paraplegia: massive sequencing of 70 genes in a large cohort of 812 cases). The kit couples targeted capture and next generation sequencing together. The HSP patients came from 2 cohorts, in one, an HSP gene was identified in 35% of people, no gene could be identified in 44% of people and unknown genes were identified in 20% of people. Comparable results were found in the other cohort. The technique was noted as having a higher diagnostic rate than more classical strategies. (poster abstract 76)

Gait Timing

A study from Brazil (Natural history of movement abnormalities on hereditary spastic paraplegias: validation of timed-gait measuring functional instruments) used a range of walking tests over 25 HSP patients and 25 controls. Tests included a 6 minute walking test, a 10m walking test and a timed up and go test. They found that on all walking tests there was a moderate to strong correlation with the SPRS scale and with disease stage, and they determined that theoretically these are sensitive enough to detect change. They plan to repeat the study after 18 months. (poster abstract 63)

Spatax Meeting

Towards the end of September I went to the Spatax meeting in Nice, France. The meeting is held every three years, and readers may remember that I went to the previous one in 2016.

As per 2016 I submitted an abstract for a poster, which was accepted, so I was able to get a poster with a summary of the last three years survey results up for those to see. You can see the poster here: https://hspjourney.blogspot.com/2019/11/spatax-meeting-poster-2019.html.

Like 2016, I found the meeting really friendly, and since 2016 I have become more involved with EuroHSP, and there were several from EuroHSP and other HSP support groups there, which it was really good to catch up with. The meeting had 32 presentations made and 70 posters were up. There were 159 participants from 21 countries.

This time there seemed to be a greater proportion of papers covering Ataxia than were covering HSP. This post focuses on the papers of relevance to HSP.

First up was Marina Zapparoli from EuroHSP and the Italian HSP group. She recounted her family story, noting that with HSP there are many things that you cannot do, but that should not stop you focusing on being who you are, and following your dreams.

Right near the end of the first day Rebecca Schule gave an overview of the TreatHSP network. (https://treathsp.net/) This network has the goal to develop and improve treatments for HSP.

They are seeking longitudinal studies and looking at recorded outcomes. There are two key issues with the network: One is that there are consent issues when combining different datasets together, and the other is that there needs to be consistency between datasets so that the whole dataset can be used together. Expert input is needed to resolve this.

On the second day, the first presentation was from Rebecca Schule again. Genetic mutations are not detected at the moment for 45% of unresolved HSP cases.  Rebecca also talked about the RNF170 gene. This gene has been identified with several cases of HSP, and Rebecca noted that this gene could be a "druggable pathway" - i.e. there is potential for drugs to reduce the effects of this type of HSP.

Juan Bonifacino noted that SPG47, SPG50, SPG51 and SPG52 are now grouped together and called AP4. They are developing a mouse model for investigating further.

Later in the day, Frederic Darios reported that they have developed a mouse model which replicates both the physical and cognitive effects of SPG11 (the most frequently occurring recessive form of HSP). They have also been testing a zebrafish model, and may have a cure for zebrafish with SPG11.

The penultimate session of the conference was by far the most interesting - looking at different therapy options:

Lucy Vincent told us about click and dance https://www.clickanddance.com/. Undertaking new activities creates new pathways in the brain. Many people stop creating new movement paths in their brain at age 16-17, and learning to dance creates new pathways. She had everyone in the room up on their feet and was teaching a new dance step.

The website has a range of different options for those who can or cant stand up, and gives a range of 3 minute videos to follow. You can link the game with some wearable devices - some brands of fitbit at the moment.

Matthis Synofzik reported various therapies for ataxia, but my view is that some of these approaches would equally apply to HSP. He reported that physiotherapy is an effective treatment.

More interestingly, he reported that playing exergames was also good. These are games where you control the game through physical movement of a controller rather than pressing buttons on a gamepad. On the xbox they investigated table tennis, which was shown to be good the upper body, light race which was good for the lower body and 20,000 leaks which was good for both upper and lower body. They also tested various games using the Wii balance board, which were shown to be more cognitively demanding. The thing to note is to change games regularly, so that you are creating new neural pathways. They also look at speech training - speech is often affected in ataxia.

Alexander Geurts reported the use of Botox for people with uncomplicated HSP. They identified that if people were walking on their toes then their calf muscles were tights, and if they walked with a scissor gait then their hip adductors were tight. They undertook a programme with botox injections to relieve spasticity in selected patients. The study used a very precise way of positioning the botox injections in the places that they wanted them to achieve the benefits.

For completeness, there were a few other mentions of HSP in some of the other papers presented.

Spatax have prepared their won summary of the conference here:
https://spatax.wordpress.com/2019/10/04/summary-and-abstracts-of-the-6th-international-meeting-on-spastic-paraparesis-and-ataxia-september-20-21-2019-in-nice-france/

You can also see the programme and the abstracts for the posters and selected papers here:
https://spatax.files.wordpress.com/2019/10/booklet_2019-version-en-ligne.pdf

Spatax Meeting Poster 2019

Near the end of September I went to the Spatax meeting in Nice, France. As per 2016 I submitted an abstract for a poster, which was accepted, so I was able to get a poster with a summary of the last three years survey results up for those to see.

You are welcome to see the poster here: https://drive.google.com/open?id=1QgvmCblZcWaOOFuEt6Mul0j2YSHGngLR

The abstract I submitted is:

Three on-line surveys were undertaken in 2016, 2017 and 2018 for people with HSP. 700 responses are reported in full on my HSP blog http://hspjourney.blogspot.co.uk/.

Respondents answered wellbeing questions to explore links between HSP factors and wellbeing.

In 2017 potentially significant wellbeing differentiators were identified:

•       People without pain from HSP have a better wellbeing than those who get pain from HSP.

•       People content with their employment/occupation have a better wellbeing than those not content.

•       People whose employers are not supportive of HSP situations tend to have a lower wellbeing.

•       Those who can walk as far as they want and those unable to walk have a better wellbeing.

In 2018 three symptoms showed significant negative wellbeing effects; depression, stress, and HSP affecting learning/memory. Three further symptoms showed potentially significant negative effects; poor co-ordination, regular falls, and back/hip pain.

Several factors have large wellbeing effects, but many are not direct HSP symptoms. Help or treatment in these may result in improved wellbeing. Potential areas include;

•       Decreasing: Depression, stress, anxiety, worries

•       Lifestyle or other changes to improve sleep

•       Reductions in pain

•       Strength/balance training to reduce falls

•       Activity/exercise to maintain mobility as long as possible

Additional findings:

•       90% with HSP have moderate or severe fatigue.

•       80% with HSP typically get 'discomforting' or 'distressing' pain from HSP.

•       Walking is most affected with; steps/stairs, tiredness/fatigue, uneven ground, carrying.

•       Symptoms with greatest effect; fatigue, difficulty walking, loss of balance, muscles feeling stiff, bladder problems, back/hip pain.

•       Longitudinally, not all symptoms persist from year to year.

Recent News Stories

I have seen a few interesting stories in the news recently.

Gigs and Events

In the UK the company Ticketmaster are making it much easier for disabled people to be able to book tickets for gigs: https://www.bbc.co.uk/news/entertainment-arts-50247373

"Ticketmaster's scheme allows fans to submit details of their disability online. Once validated, the information is bound to their profile, meaning they can book tickets for all future gigs without extra effort.

In participating venues, accessible seats will be clearly labelled on the seat map like any other ticket - whether that's in the range of a hearing loop, or in a wheelchair-friendly zone, with a free companion ticket."

Gene Editing

This story talks about being able to edit DNA at the letter-by-letter level. https://www.bbc.co.uk/news/health-50125843.

I wonder how this has potential to help those with HSP. I can imagine that this has the potential to prevent further degradation of nerves, so potential is highest for those with an early diagnosis. The article is vague about timelines!

Mind Control Exo-skeleton

This story reports a person with paralysis from a spinal cord injury being able to use his mind to control an exo-skeleton. https://www.bbc.co.uk/news/health-49907356.

The persons has had implants placed on the surface of his brain to allow the signals to be read. At the moment this is limited to laboratory use, so it is early stages. The article comments that the system has also been used to control a wheelchair, which is an interesting adaption. I rather enjoy the concept that the mind control could be used for controlling things other than movement.

2019 Survey Open

** Results for this survey are now published: https://hspjourney.blogspot.com/2020/02/2019-survey-results.html **

Hello.

I am pleased to announce that my 2019 survey is now open. Questions are available in English, German, Italian, Dutch, French, Spanish, Danish and Portuguese. Click on the relevant link in the table to below to access the questions in that language..

The main focus for this years survey is medication, and I ask for details of up to 5 medications that you take for HSP symptoms. It is possible to comment about other medications for HSP symptoms if you take more than 5. If you do not take any medication, click "next" through until you get to the exercise and relaxation questions.

In addition, I ask questions on lifespace tracking and I seek a couple of perspectives. Similar to recent years the analysis of answers will take into account both mobility and wellbeing. I will collect answers until approximately the end of 2019, with results published on Rare Disease Day 2020 - Saturday 29th February.

Language	Link	Responses (14 Jan)
English:	http://bit.ly/HSPsurv19English	207
Português	http://bit.ly/HSPsurv19Portuguese	98
Français	bit.ly/HSPsurv19French	47
Nederlands:	http://bit.ly/HSPsurv19Dutch	21
Italiano:	bit.ly/HSPsurv19Italian	8
Español	http://bit.ly/HSPsurv19Spanish	11
Deutsch:	bit.ly/HSPsurv19German	2
Dansk:	http://bit.ly/HSPsurv19Danish	1

Starting Full Analysis (14 January)
There are almost 400 responses to the survey so far as I start the analysis. First job after translation to English is to eliminate duplicate entries and filter out those who didnt answer any questions to give the sample size for the analysis

Interim Results (3rd December)
I have combined the English and French answers together and undertaken a quick analysis of some results to show a picture of this years results. I'd love more people to answer please!

Out of around 170 people with HSP:

• 85% consider themselves to be disabled
• 50% feel that they are vulnerable
• 30% feel that they are isolated
• 25% have a care plan

About 170 people answered the life-space questions which gives a feel for how much people get out and about. 

• More than 90% leave the room they sleep in every day.
• More than 95% go outside more than once a week, with about two thirds going outside daily
• More than 90% go to their neighbourhood at least weekly, with one third doing this daily
• More than 90% go to a nearby town/city/place at least monthly, with half doing this more than once a week

About 140 people answered questions on activities and relaxation.

• Stretches are undertaken by about 95% of people. More than half do this at least daily
• Walking or running is undertaken at least daily by about half of people
• Physiotherapy is undertaken weekly by about a third of people, and less frequently by a quarter
• Cycling, manual wheelchair or swimming are undertaken by more than half of people
• Music is enjoyed by two thirds of people, half of which do this daily.

2019 AGM: Bladder Management - Dr Mohammed Belal

The final talk of the day was Dr Mohammed Belal of University Hospital Birmingham who talked on bladder management with HSP.

He began by giving some basic information. The bladder is a low pressure reservoir for fluids, it is a void within the body. The bladder is controlled from the brain with nerves between the bladder and the brain. The average person urinates 7 times in a 24 hour period, with young people urinating fewer times than older people.

An over-active bladder is one which gives the person urgency to go to the toilet before the bladder is full. The bladder is contracting without the permission of the person. In the normal population some 15-20% have an overactive bladder.

Dr Belal described two areas of interest in reducing bladder effects.

Lifestyle Changes

Have your last drink of the day 1-2hours before bed. Even taking a sip of drink during the night will create more urine. As you get older more urine is generated at night.

If you snore then more urine is produced, so getting a better pillow to reduce snoring should reduce the amount of urine generated.

If your wee/urine is clear then you are drinking too much. 1 litre of fluids is enough.

Tea, coffee and alcohol are diuretics whose job is is to generate more urine. Reducing intake of these drinks can reduce the amount of urine.

Bladder training can be effective. Even trying to hold back another 10 minutes can be beneficial. It is wise to keep a bladder diary to identify how often you go. Exercising the pelvic floor muscles can help. Emptying the bladder before going out and before going to bed can help.

Reducing weight and stopping smoking can also help.

The body takes a couple of weeks to adapt to any changes, so perseverance is needed when investigating these factors.

Medication

The aim is to reduce pressure in the bladder. This can be achieved in two ways, self catheterisation or using medication

Antimuscarinic drugs reduce bladder spasms. These come in a lot of different forms with different symptoms and risks. Treatment can be limited by side effects including a dry mouth, constipation and effects on the central nervous system.

Botox injections can increase bladder capacity.

Infections are common when starting to use self-catheterisation, which usually need a course of anti-biotics to treat. It is necessary to practice.

It is possible to combine more than one medication.


Dr Belal also described a study which retrospectively looked at 33 people with HSP and their urological function. (link to abstract: https://www.ncbi.nlm.nih.gov/pubmed/30848841).

The most frequent symptom was urgency, most use medication, one third use self catheterisation and 10% have botox injections.

2019 AGM: Carers Trust - Brandon Scott-Omenka

The third presentation was from Brandon Scott-Omenka of the Carers Trust. Brandon explained that the Carers Trust is arranged into different areas, and therefore the services which are offered by the Carers trust in one area might be different from the services in a different area.

Brandon outlined that carers are people who provide care for another. Generally this would include adults caring for parents, relatives or siblings, but can also include children caring for adults or siblings, and parents caring for children. Carers can be any age, Brandon had examples of people aged between 6 and 96.

Caring may include:

• Having an emotional burden of worry about the person being cared for
• Needing to physically assist the person with their mobility
• Spending time on caring activities, shopping (etc.)
• Having relevant knowledge, medical and other, knowing medications, procedures (etc.)
• Organising and attending medical/professional/health appointments (etc.)
• Being and advocate for the person - assessments, health plans (etc.)

Carers can often find caring for another stressful, and many feel unable to cope. Often there are role reversals, and family relationships can breakdown. Sometimes children feel isolated or are bullied.

When seeking help there are also pressures on the healthcare system meaning that help may be delayed, restricted or not available. Sometimes the person needs to end up sooner in residential care.

Being a carer can be lonely and isolating.  New carers are often daunted or overwhelmed by the responsibility of providing the care. Carers also have to balance their own health, with some being exhausted, suffering from injuries or having their own health problems.

With support, these burdens on the carer can be reduced. The carers trust aim to provide support to help carers. This includes:

• Emotional support - a listening ear
• Befriending - linking carers with others
• Carers assessments - helping to get access to support
• Support group access and face to face support
• Events and activities to give a break from caring
• Providing information and advice
• Training and workshops
• Advice on future and contingency planning
• Young carers clubs

Brandon said that there are often tears the first time a carer visits as it is the first time they are being asked how they are.

Link to Carers trust website: https://carers.org/ where you can find out more information.

The relevant legislation if you are in England is the Care Act 2014, with other legislation in other parts of the UK. (https://www.carersuk.org/help-and-advice/practical-support/getting-care-and-support/care-act-faq). Under the Act carers can ask for an assessment of their needs which runs in parallel with an assessment of the needs of the person being cared for. Decisions on planning about care should take the carers wellbeing into account.

Brandon offered two stats - the care provided by friends and family was worth £119 billion in 2011, and the 6.8million people who provide unpaid care saved the state £132 billion in 2015. 

2019 AGM: HSP Cant Stop Me - Amber Meikle-Janney

The second presentation was from Amber Meikle-Janney, who is one of the Support Group members. She gave an interesting talk about her experiences skiing.

Amber is part of the GB parasnowski development team, and she entertained us with stories about her training, her races and how she skis. Essentially, Amber sits in a rig which is attached to a single ski, and she uses her weight and arms to be able to balance and turn the ski. You can read further details on Ambers ski-ing on her blog: http://ambermeiklejanneyskier.blogspot.com/.

The point which I took away the most from this was not just Ambers excellence in skiing, but her determination to do what she wanted to do, when she wanted to do it. She has discovered an activity which she really enjoys, and she doesnt let HSP get in her way of doing this.

This approach was shown in the different videos which Amber included in her presentation, to start with Amber was seen turning and falling regularly, each time having another go. Over time it is clear that Amber has put a lot of practice in as in sucessive videos her skiing speed, balance and turning skills have improved, and this was further evidenced in the way which Amber described herself in each video, showing her confidence and her enjoyment from skiing.

This positive approach to life stands Amber in great stead, and she uses this approach throughout her activities. She concluded her presentation with a few examples of the other things which she gets up to, including developing her wheelchair skills so that she is able to get into as many places as she can and do what she wants to do when she gets there. She has also taken part in a range of outdoor experiences including boats, camp fires and hand cycles. She was also very pleased to show us a video of her latest wheelchair attachment - a motor, allowing her to effortlessly whizz along the road.

Amber is a great example of someone using a positive mindset to achieve what they want to do and having fun along the way. Excellent!

2019 AGM: What is HSP? - Rebecca Schüle

The first talk at the AGM was from Rebecca Schüle, from the University of Tübingen
 in Germany. We had asked Rebecca to attend the 2018 AGM, but there were various problems with flights which meant that she wasn't able to attend.

Rebecca began by giving a general description of HSP, reminding us that it is a group of diseases, all of which give rise to a spastic gait. HSP is an upper motor neuron disease - i.e. it affects the part of the nerve from the brain down into the spinal column. Upper motor neuron diseases are characterised by loss of voluntary muscle control, weakness, spasticity and clonus. There tends to be an increased stretch reflex. Where conditions affect the lower nerves the characteristics tend to be muscle atrophy, weakness, twitching and a decreased stretch reflex. HSP affects the longest motor neurons the most, so those affecting walking. After the discovery of HSP back in the 1800's, key work was undertaken by Anita Harding in the 1970's to 1990's. Anita identified that the types of HSP fell into two groups, one group with cognitive effects and one without.

Medication

Rebecca covered antispastic medication, and highlighted the need to get the right dose balance. It is difficult to get the right dose. The medication has both positive and negative effects. Positive effects include reduction in spasticity, pain, clonus and spastic jerks. Negative effects include muscle weakness, slowing down movements and reduced fine motor control and tiredness. There is a need to balance the positive benefits against the negative outcomes. 

Medical cannabis can have some benefits on muscles, but cal also make any depression worse.

Exercise

Most people do too little exercise, and you cannot do too much exercise. In judging how much effort to put into exercise, if you take 2-3 hours to recover from the exercise that is good, but if you take 2-3 days to recover that is not good! Gait training can be good to help with instability. It is important to find exercises which you like doing, everything gets boring after a while.

For those thinking about surgery as a treatment, it is important to remember that HSP is progressive, and this needs to be taken into account in any decisions. What is right today may not be right in 15 years time.

Bladder

Two thirds of people report bladder problems with HSP, which is sever in 5% of people and mild/moderate in about a third. There are good treatment options for bladder issues, which arise from the imbalance between the large bladder muscle against the small sphincter muscle.

Pain

Half of people with HSP report pain. Pain can arise from spasticity, arthritis, herniated discs or be neuropathic. Pain tends to increase as the gait changes and the loads on the muscles/joints changes.

Sensory Deficit

Half of people with HSP suffer from some kind of sensory deficit. This is often balance and co-ordination issues arising from changes in the sense of proprioception. Some (less than 10% get numbness or tingling. Some (30%) get ataxia which can affect coordination of upper limbs, speech and swallowing.  Less than 10% get cognitive effects which are more than just memory problems, and can affect the ability to solve problems, but this aspect has not been studies thoroughly to date.  

The Overall Effects of HSP

Some 10% of people start showing effects of HSP before they are 5 years old. The most frequent age for starting to show effects is 35-45. People who show HSP early tend to have a slower rate of progression than those who start to show symptoms later in life.

Half of people with HSP are still walking independently after 22 years of having HSP. After 37 years with HSP about one quarter of people use a wheelchair on a daily basis.

Those with a dominant type of HSP have a 50% chance of passing it on to the next generation, who would be affected. Those with a recessive gene have a 25% chance of an affected child if both parents carry the gene. Sometimes HSP is caused by a new mutation and neither parent has HSP.

If you know the type of HSP which you have then you are able to take these overall effects into account and know the chance of passing it on to the next generation. Overall it is expected that there are some 150-200 genes for HSP, and not all of these have been discovered yet. Many recently discovered HSP genes do not have a number. Some genes can be either dominant or recessive. The future may hold gene therapy for HSP.

European Reference Networks
HSP is covered be a European Reference Network (ERN). This network looks at how to manage HSP and has prepared management guidelines. Two main areas for treatment are drug re-purposing - i.e. finding an existing drug which can repair or compensate for a defect, and modifying the gene directly to repair the defect. No gene treatments are approved for HSP at the moment, but some are for similar conditions.

In terms of trials for all kinds of treatments there is a need to have a cohort of people with HSP who are willing to take part in the study. There is a need for national history studies to understand the population and help plan for trials.

With all treatments there is a need to be able to measure the benefit of the treatment. This could be done using a scale like the SPRS (Spastic Paraplegia Rating Scale) but could also consider a specific  scale for the area being tested.

UK HSP Support Group AGM

Firstly, it feels like a long time ago that the AGM happened, and I apologise for taking so long to get to writing about it. My next few blog posts will be about the different presentations which we had during the day. This post is about the AGM itself.

The AGM is the official part of the day. As a charity we need to have an AGM each year. The purpose of the AGM is straightforward - to report on the years activities, to approve the accounts and reports, and to elect the trustees.

Activities as usual:

• Welcoming new members to the group
• Meetings
• Member and researcher grants
• Newsletters
• Website and social media

New activities in the year:

• New Constitution (voted in at 2018 AGM) accepted by charities commission
• New Mission Statement written
• Update to website is in progress
• Links to other groups/charities – Initial steps made
• Research – New grant application form for researchers to complete
• Starting to formalise committees to allow people to help more easily
• Group now covers regional meeting costs
• Contributed to consultation on medical cannabis
• Contributed to physical activity in rare conditions collaboration
• Contributed to EuroHSP

So, overall it has been a busy year!

I also talked to many people there about helping the group, particularly around getting people to consider becoming trustees for the group, and more generally around helping in other ways. If there are any readers who would like to help, please read this blog post: https://hspjourney.blogspot.com/2019/06/can-you-help-uk-hsp-support-group.html from a month or so ago.

Who am I?

This might seem like an odd title for a blog post, but it comes as a result of hearing an opinion about me from a friend of a friend. The opinion itself is not important, but it wasn't how I perceive myself, which got me wondering about how people interpret what they read here and build their own picture of what they think I am like.

I realise that I am fairly strict about keeping on-topic in the various aspects of my life. I have to play the demands of these different areas against each other so that I can try and steer the best course, and the complete me is a combination of all of these aspects and their prioritisation.

On this blog the key focus is obviously HSP. There is some overlap with my work being chair of the UK HSP Support Group, and various family and friends get the odd mention here and there in passing when relevant to the HSP story. On the opposite side, this blog doesn't (typically) report what I get up to at work because that isn't relevant to HSP. 

Keeping on-topic helps me to know where to go to find something I've previously said or thought, and it also should help people who are interested in what I am interested in.

In reality there are very few people who have sight of all the different aspects of my life, and actually I need to have different attitudes for different elements in order for them to work successfully, and my 'trick' is to try and borrow skills from different areas when needed, although I try and make sure that my values underlie everything which I do so that there is some reasonable degree of consistency.

In conclusion, it isn't surprising that people have different opinions about what I am like, but I hope that the underlying consistencies reduces the variation in these. I'm never going to be able to account for the more unusual opinions, but this reminds me to continue to try and write in an unambiguous style.

Can you help the UK HSP Support Group?

I am taking the liberty of using my blog to reach out to a wider audience wearing my Chair of the UK HSP Support Group hat.

We are seeking people to volunteer time to help run the group. Principally we are seeking people who are willing to become trustees of the charity and help run the group, however we would be interested in hearing from anyone who has time and enthusiasm to help us. Please drop me a line on adamhspsurvey@gmail.com to find out more information.

The text below sets out our expectations and highlights benefits you can get by working with the group. I have further specific details for the Secretary and Membership Secretary roles, who we are seeking to appoint from our 2020 AGM - thereby giving up to a year for handover.

Trustee Requirements

We expect trustees to have one or more of these characteristics:

• Have an interest in HSP

• Have an interest in running a charitable organisation

• Be kind, honest, diplomatic, considerate and engaging

• Enjoy developing ideas and concepts to help the group

• Take ownership of responsibilities and fulfil them

• Have special knowledge or experience of use to the group

Trustees meet approximately 3 times a year for face-to-face meetings. The trustees use reasonable skill and care to make decisions on the activities of the group, including meetings, the newsletter, fundraising and other activities. They similarly make financial decisions for the group, including grants for members and for researchers. All decisions need to be made in good faith to further the purposes of the group.

Trustees are expected to help the group’s committees carry out their day-to-day activities, and to report those activities to the other trustees. The committee involvement helps ensure that those people who help the group in this way are suitably supported and that the group’s activities are carried out consistently. 

Trustees must also take note of the Charity Commission expectations of trustees.

Most communication between trustees is via e-mail although we are investigating using tele-conferences. The level of activity varies from week to week, ranging from nothing up to perhaps a few hours spread throughout the week. We would welcome people who could also take on other tasks to help the group.

Benefits

As a trustee you have opportunities to:

• shape and influence the direction of the group, 

• shape and influence the direction of UK HSP research,

• attend events to gain knowledge useful to the group

• meet similar minded people and develop useful networks

• understand the wide range of needs for those affected by HSP  

• ensure the group continues to provide the support needed by our members.

Specific Roles

In particular we are seeking people to become Secretary and Membership Secretary. These are important roles for the group, and these positions must be held by trustees.

Other Ways You Can Help

If you feel that being a trustee of the group is not for you, but you would like to help the group in a different way, then please let us know. We are always keen to hear from people who want to help, particularly if you could help with:

• organising local meetings, 

• fundraising,

• running our website, 

• giving information to members, 

• networking with researchers or other charities,

• being a patient representative on research projects

• social media

• collating positive stories

Euro HSP Meeting

Last weekend I went to Vienna, representing the UK HSP Support Group at the EuroHSP AGM.

The first part of the day was a session on establishing what EuroHSP's values and mission were about, identifying the various challenges facing either people with HSP or the national support groups. This session was led by Kathy Redmond, who has undertaken this type of activities with other groups before.

In the room were representatives of most of the EuroHSP members, and a few others. In some cases the group was represented by one person (like me for the UK) and in other cases there were several people representing. The official language of the day was "bad English", which is useful as that is my native language!

Four main thrusts for EuroHSP were identified and these were:

• Working together on EU projects
• Increasing the power of the HSP patient voice
• Facilitate the exchange of experience and information
• Help members be more effective

A range of different thoughts were set out around these headings, and people were asked to identify actions which EuroHSP must complete before the end of 2020.

Everyone in the room was really friendly, and the discussions were very useful. I found it interesting that most of the groups identified the same challenges for living with HSP, however each group has a different focus on where they saw the priorities for EuroHSP. It was a really interesting day.

Research Paper: Stumbling, struggling, and shame due to spasticity

I found this paper really good. The text of this blog post heavily copies and pastes from the full paper. My key takeaway points are:

• Applying strategies to manage spasticity was often perceived as a struggle. 
• Giving up activities is common. Finding alternatives is a struggle.
• Fear of functional deterioration and frustration from increasing social isolation are common.
• Participants experience substantial day-to-day fluctuations in spasticity.
• Limitations in gait and balance have an impact on almost all physical activities.
• Fatigue is a major consequence of spasticity, impacting on both daily routines and night rest.
• Participants often felt ashamed from negative judgements made by other people.
• Frequently used tools for spasticity do not address relevant issues for patients (fatigue, pain, sleep, and general well-being.) 
• Pain and fatigue have been scarcely addressed in the literature on HSP, even though they are regarded by the patients as some of their most disabling symptoms.
• Outcomes that address fatigue, energy expenditure, and sleep appear to be lacking in the literature on chronic spasticity in persons with HSP.

The full details of the paper are:

Title: Stumbling, struggling, and shame due to spasticity: a qualitative study of adult persons with hereditary spastic paraplegia

Authors: Hans C. J. W. Kerstens , Ton Satink, Maarten J. Nijkrake, Bert J. M. De Swart, Bas J. H. Van Lith , Alexander C. H. Geurts  & Maria W. G. Nijhuis-van der Sanden

Link to abstract: https://www.tandfonline.com/doi/full/10.1080/09638288.2019.1610084

The paper describes how 14 people with HSP from The Nederlands were interviewed about their HSP, their mobility and the consequences of spasticity, as well as the various treatments they receive. The 14 people all had one of the pure/uncomplicated forms of HSP. They were a mix of men and women over a wide age range.

The authors interviewed the people and looked for patterns in their results, and each of the patterns is introduced with a quote from one of the patients. Four different areas were identified, which are described below.

"I stumble"

All people identified stumbling as an issue. The stumbling was sub-divided into four categories:

• Pain and stiffness - "Sometimes the pain feels like I’ve been run over by a train"

Almost all people consistently mention leg pain, and some also experience back pain. Stiffness and pain increased the time that people have to remain seated or laying down, and the stiffness makes movement inconvenient, 

• Fatigue - "I am so tired that I could sleep standing up"

Many people identify that gait impairments require more effort and energy, leading to high levels of fatigue. Fatigue is exaggerated with poor sleep.

• Impaired balance and gait - "I have difficulty with all the activities that require me to use my legs"

All people had problems with gait and balance control. Toe-walking and slower speed are common. Standing and walking are regarded as very energy demanding, and many experience limitations in a wide range of daily activities. (personal hygiene, housekeeping, employment, mobility and leisure activities - etc.). Getting in and out of cars is difficult for many. Some are accustomed to regular falls. Exercise and sport are viewed as important, but it is difficult to find a suitable one.

  

• Day-to-day fluctuations - "Some days I feel like a wreck, but sometimes I don’t feel too bad at all"

Some people have stable conditions whereas others have symptoms with strong and unpredictable day-to-day variation. All participants notice a gradual long term increase in the progression of HSP.

"I struggle"

All people make adaptions to live with their HSP. There are two categories identified.

• Continuous adaption - "I have to think before I do something: First I have to be standing steadily, then I can lift the groceries into the car"

A wide variety of aids and adaptions are used, and support is given by spouses or others. Walking aids are regularly used, routes are planned and obstacles/difficulties are remembered and avoided. The adaptions help people carry on performing activities, keeping independence. Finding the right balance between keeping active and taking rest is difficult - insufficient movement increases stiffness but too much activity reduces leg stability/balance.

• Quitting - "Diving is now impossible because I can’t control my feet any more".

After a certain time applying adaption strategies is no longer possible. When an activity is stopped, some search for less demanding activities instead. Quitting activities also affects employment, sometimes the effects of HSP makes finding an alternative position more difficult.

"I feel ashamed"

Feeling judged and ashamed is a very significant category of emotions felt my many people, and fear and frustration is another category felt.

• Judged/ashamed - "At parties I don’t drink much wine, otherwise they think I’m drunk."

People regularly encounter negative judgements from people or feel ashamed of how they walk because of looks/comments made. Several have to endure other peoples opinions particularly around the use of walking aids or mobility devices. People talk more freely amongst friends about spasticity and is consequences.

• Fear/frustration - "I am so scared that I will deteriorate further"

People fear the slow but inevitable progression of HSP. People try to stay as active as possible to prevent functional decline. Frustration is felt about slowly reducing social roles and becoming more homebound leads to fewer topics of conversation. Some find it difficult to accept spasticity, some become angry when they cannot do things, some are depressed wondering why they are affected.

"I need support"

All people needed some support. Four categories were identified:

• Adequacy of information - "I want more information than just the explanation about what the abbreviation HSP means"

There is a need from people with HSP and caregivers about spasticity and its consequences. Information should include how to deal with spasticity, and the advantages and shortcoming of different options.

• Efficacy of interventions - "Thanks to the injections, the tips of my shoes don’t need to be repaired so often"

Different people have different approaches to medications, depending on their experiences and side effects. Many perform stretching exercises, either by themselves or with a physiotherapist. Many find a combination of home-based stretching with physiotherapy to be optimal as some need motivation to carry on. 

• Quality of healthcare professionals - "My GP … does not know much about this"

People are usually satisfied with people working in centres of HSP expertise. Most other healthcare professionals are unaware of HSP. In these situations there is an absence of thorough assessment, personalised instruction, easy access, regular checks and shared decision making. 

• Insight in HSP - "The symptoms creep up on me, but with a video I could see the difference"

Although people don't want to be confronted too much by their progression, they did want information about spasticity fluctuations and the influence of interventions on this. It would be easier to adhere to an exercise plan if the effects of efforts could be noticed. Objective feedback would identify if experienced changes were real or not. Monitoring movements is important but should not be time consuming.

DISCUSSION

Applying adequate strategies to manage spasticity and its consequences was often perceived as a struggle. Participants often felt ashamed as they experienced negative judgements by persons in their environment. People expressed the need for medical and practical support from professionals in both centres of expertise and the community. Key messages from the participants are:

• Pain and stiffness are cardinal features of HSP. 
• Fatigue is a major consequence of spasticity, impacting on both daily routines and night rest.
• Limitations in gait and balance have an impact on almost all physical activities. 
• Within the gradual progression of spasticity, participants experience substantial day-to-day fluctuations. 
• Spasticity is energy demanding. 
• Giving up activities is common in various domains of daily life. Finding alternatives is a struggle. 
• Moving differently than others causes feelings of shame and being judged. 
• Fear of functional deterioration and frustration about gradually increasing social isolation are common. 
• There is a need for reliable medical information as well as practical information on how to deal with spasticity. 
• Botulinum toxin injections induce fluctuations of spasticity, which are inconvenient.
• Physiotherapy can provide coaching and motivation to continue home exercises over time.
• Healthcare providers in expertise centres should support healthcare providers in the community with specific knowledge of how to treat and coach patients with HSP. 
• Monitoring of physical impairments and activity limitations is important to get a better grip on the consequences of lower-limb spasticity on daily life

Spasticity is more than just stiffness 

Participants reported both well-known physical consequences of chronic lower-limb spasticity (stiffness, leg pain, stumbling gait pattern) and less obvious consequences (back pain, fatigue, and unpredictable day-to-day fluctuations). Nearly all participants complained about lower back pain, which they believed to be due to an altered posture and gait pattern. Both strenuous gait and disturbed sleeping pattern were responsible for high levels of fatigue. Together, these symptoms had a huge impact on their daily lives. 

Pain and fatigue have been scarcely addressed in the literature on HSP, even though they are regarded by the patients as some of their most disabling symptoms. 

The need to address outcomes that are meaningful to the patient 

The most frequently used measurement tools in the rehabilitation of chronic spasticity are focused on the level of physical impairments. These do not address the issues that are most relevant to the patients, such as fatigue, pain, sleep, and general well-being. Outcomes that address fatigue, energy expenditure, and sleep appear to be lacking in the literature on chronic spasticity in persons with HSP. 

Personal feedback enhances individual grip on spasticity 

Participants found it difficult to differentiate between disease progression and the wearing-off phenomenon following treatments. Participants also reported that both internal factors (stress, fatigue) and external factors (temperature) could influence spasticity. 

Strengths and limitations 

This study has strengths in the method of data collection and analysis. Limitations include: topics such as bladder issues or sexuality were not addressed, and results are limited to patients with a pure form of HSP.

Conclusion 

The consequences of chronic lower-limb spasticity in patients with pure forms of HSP go beyond the well-known consequences such as muscle stiffness and impaired ambulation. HSP is associated with fatigue, pain, unpredictable day-to-day fluctuations, a wide range of physical activity limitations and social participation restrictions, and the continuous need to adjust compensation strategies to overcome these limitations. 

In addition, feelings of shame, fear, frustration, and depressed mood coincide with the disabilities experienced and the judgements made by persons in the social environment. The participants expressed a strong need for interventions not only to reduce the neuromuscular impairments, but also to alleviate fatigue and pain, to improve nighttime rest, and to restore the capacity to perform relevant physical activities and fulfil social roles. 

Spasticity rehabilitation regimens should therefore be tailored to the individual needs of the person with HSP, based on careful personalised monitoring that includes patient-reported outcomes. Enhancing self-management may empower patients to gain control of the consequences of chronic spasticity in their daily lives.

My Final observations

I'm very pleased that this paper has been published. It puts the frustrations that people often have with HSP into clear understandable language. A lot of the findings are similar to those reported in my survey results. 

Symptoms update: (all the) small things

No, its not the start of the song (Blink 182, 1999), but a collection of a few small differences that I've noticed in recent months. This is, therefore, a symptoms update post.

Bladder Medication

I had been finding that my bladder was beginning to annoy me a bit more, especially in the afternoons. I mentioned this when I went for my appointment in London at the National Hospital. It was suggested that we just increase my medication. When I went for my GP appointment afterwards we looked at the prescription I was on and the scope for increasing the dose.

It seems that I am already on the maximum dose for this medication, so we are trying out two different approaches. The first approach (I've not actually got round to trying yet) is that the medication is available in half doses, so the option is to take a half done in the morning and another in the evening.

The second approach (the one which I am trying first), which is simply to take the medication in the morning rather than in the evening before going to bed. I had read that one of the symptoms was that the medication might make you sleepy, so I had decided to take it at the end of the day. However, the thought is that the medication is wearing off before the 24 hours is up. By taking it in the morning I get the full day of benefit, and I'm asleep at night. This turns out to be effective. I'm not noticing the tiredness side effect, and the problem appears to have gone away.

Sleeping

I'm finding that it is slightly less comfortable to lay on my back with my legs straight than it is to lay on my side with my legs bent. I suspect that this is some residual spasticity in my legs. There's a part of me which wants to lay on my back and get a good long light stretch in my legs leaving them straight, whereas in practice I'm tending to roll onto my side and bend my legs to be more comfortable.

Stairs

When we stayed in the Lake District at Easter we were in a small cottage. The stairs were very steep to get upstairs, and included a corner. I noticed that it was more difficult to get up and down those stairs than it is to get up and down the stairs I usually encounter at home and work. Progress on the steep stairs was manageable, but slow. I had to make much more use of handrails and other hold-ables than normal, and carrying a cup of coffee upstairs was somewhat a challenge! Perhaps this a preview of what is coming later down the line.