Monday, 29 July 2019

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.


Thursday, 4 July 2019

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.

Saturday, 29 June 2019

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




Sunday, 23 June 2019

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.


Friday, 31 May 2019

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 abstracthttps://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. 



Friday, 10 May 2019

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.



Thursday, 25 April 2019

Scafell Pike (highest land in England)

In recent years I had been wondering if my time walking in the Lake District was over or not. We took the decision to try this out and spent some time in the Lakes over the Easter break. The challenge was to see if I could walk up Scafell Pike or not.

A reminder of the context - I have found that walking can wear me out quite quickly, but that has tended to be at the end of busy days, but not necessarily every day.

My boys (now aged 6 and 9) were also quite keen on the idea of getting to the top of the highest point in England, so they were up for the challenge as well (although I didnt give them all the details of the length of the walk).

My nervousness was principally in two areas - myself - if my legs give up and I'm a long way from the finish then it would be a long and slow journey back to the car, and secondly - the boys - if they get a little way into the walk and decide that its not for them then it would be a tedious journey back down.

Having walked up Scafell Pike a few times in the past I decided to use my favourite route - up from Seathwaite via Styhead Tarn, and then back down passing near Sprinkling Tarns. The weather was looking good, so the mission was go!

We started off a little later than ideal, but the sun was shining and everyone was in good spirits. The pace was set by the boys and their interest in various things that we saw as we went up. It was a fairly slow couple of km per hour, which suited me fine. Readers may note that back in the day I was walking these routes at around 5km/hr. We had lunch by Styhead Tarn, and from here it was time to decide if we should carry on or head back down. The boys were keen, so on we went. From here we were up the corridor route - although the sun was shining it was a bit windy, and we needed all our coats on for the second section. Given it was windy we went for the Corridor Route up, with a final ascent of the scree between Scafell Pike and Broad Crag. We got to the top and had clear views all round.


For the way down we went over Broad Crag adn Ill Crag (without actually going on the summits) and then dropped to Esk Hause, and dropping back down to Seathwaite between Seathwaite Fell and Allen Crags.

My legs were starting to feel it by the time we got back to Stockley Bridge (about 1.5km from the end) so there were quite a few more stops for a short rest on the final section - but we were back in the shelter of the valley by this point so that wasnt a problem.

In terms of kit, I wore my AFO and my walking boots, which worked very well. My eldest had picked up a stick on the way up, and this was passed to me near the top (when we were going up the scree). I was then using this like a walking stick for the rest of the journey, which was good. My overall distance was 16.1km, which took us 9 hours to do. My GPS gave up its battery after 14.3km, buy my fitbit recorded some 36,000 steps on the walk.

The overall conclusion is that I really enjoyed the walk. It was a great family day out and we all had a good time. I'm pleased that I can still get up a hill. The next hill, perhaps, will be something with a slightly shorter route!

Lessons for next time - take hats and gloves, and squeeze an extra layer in the bag. I also had forgotten about the wind, so it will be important to take wind direction into account when planning future hikes with the boys.

Its also been good jotting down the details of my route, and naturally using the names of the fells as they are, without having to look them up on a map, and I enjoyed re-reading the Wainwright books which covered this walk and give the details of the surrounding fells and other interesting things to look out for on the route.

Needless to say, I could feel it in my legs the next day!

Tuesday, 2 April 2019

Diagnosis plus 10 years

We're not far from my eldest's 10 year birthday, which means that I'm now at diagnosis plus 10 years. Back at the end of March 2009 I met with the genetics counsellors and they took a blood sample. This was analysed quickly and we found out that I had HSP early April 2009 (the results letter was written on 2nd April 2009).

So, This post marks the first 10 years on my HSP journey, and I thought about reflecting on what has changed and what I have learnt in that time.

Physical Changes
So, over the last 10 years there have been some physical changes. Some of these are due to getting older and some are due to having HSP, and there is a likely middle ground where some could be either way.

So, my weight is about the same, my hair is getting grey-er and is receding back across my head, and my eyesight is getting poorer. On the other side, my hearing is about the same, I've similar strength and my sleeping patterns are about the same (subject, of course to now having 2 children!). I group these into the getting older camp.

Prior to diagnosis I could run - my longest run was the Bristol 10km in the mid 2000's. I find it difficult to run more than a short distance now. Back in the day I was also a keen hill walker, making it up to the Lake District a few times a year to regularly walk upwards of 20km a day in the fells. This would be much more of a challenge these days. I am now cycling more than I used to, but I feel that my length without pausing is decreasing.

The other main physical change is my gait and range of muscle movement when walking and moving. I'm getting through shoes quickly, because my feet scrape on the floor, and I cannot move my legs as far as I could in many different directions!

Knowledge Changes
Back 10 years ago I thought I knew a fair bit about HSP, but in reality I knew very little. Regular readers will have spotted that I now keep my eyes out on many different channels to spot relevant things. My knowledge of HSP has increased considerably, although many of the researchers are working at a technical depth that I still do not appreciate.

The other key knowledge area is how our health system works, and what I have to do to get what I want/need. This is more difficult than I was expecting, but I can see the parallels between my work and how the NHS works with pressures being applied to get more done without additional resources.

The other knowledge I've gained has been with the help of you readers of this blog, by contributing your information to my surveys I have learnt a lot about the wider experiences of people across the world. This has helped my understanding of how similar or different my HSP journey is from others, and has helped my understand where there are gaps in the overall HSP knowledge area.

I have also learnt a lot about how charities are run and the responsibilities of being a trustee for a charity, and recently about being the chair of a charity. This has opened up a load more information and connections with others with HSP.

Costs
Here we are in the area of known knowns, known unknowns and so on. I've been doing weekly Pilates for about 9 years and I've been taking medication for about 6 years. This has set me back about £3000 in total, currently about £400/year.

I have had travel costs to appointments which I've not tracked - although most have been zero cost as I've cycled to local hospital appointments. I have also been getting through socks and shoes quicker than I used to, which is another untracked differential cost.

The other two costs are more subjective - time and wellbeing. My hourly pilates and daily stretches and appointments have taken about 38 days time in total (about 900 hours).

On top of this I spend:

  • an untracked number of hours a month writing this blog (lets call it an hour or two for each of the 227 published posts), 
  • an untracked number of hours per week working for the HSP group (lets call it an average of a couple of  hours a week since I have been Chair - dealing with e-mails and sorting out other stuff) 
  • the equivalent of perhaps 3-4 working weeks a year for dealing with my survey and analysis.
  • attendance at other HSP relevant meetings and conferences 

That lot adds up to 90 days time in total (2135 hours), with a big step change at the start of my surveys, and another step change when I became chair of the HSP group.

Currently, HSP takes up about 600 hours a year of my time - which averages at nearly 12 hours a week. I'm not including hours spent on my bike as an HSP time - I'd be doing that (or some other exercise) anyway

In terms of wellbeing I'm fairly resilient. My knowledge has helped reduce my anxiety, but I have been a bit depressed at times over this decade. Of course there are many factors which affect this and it would be unfair to blame all my depression on HSP.

The Future
I'm not going to fall into the trap of setting myself objectives for the next 10 years. Things will be very different then - I'll be sharing my house with 2 young adults instead of 2 primary school aged boys. I'm expecting that there will be further deterioration in my mobility, but I'm not going to speculate on that. I hope to still be blogging and finding out more information to post about. I'll be 10 years closer to retirement. Whats left of my hair will most likely be grey and I expect to be wearing glasses. Hopefully my hearing will stay intact.

Wednesday, 27 March 2019

Interesting Things - Part 2 (diagnostic and nerve growth)

Nerve re-growth

One story caught my eye earlier, that the human brain may regrow nerve cells throughout its life. So I only see this as a news story (https://www.sciencenews.org/article/new-nerve-cells-adult-brains) Re-growth of nerves sounds very positive - of course, for HSP we'd be after the very long nerves rather than just those in the brain.

Some hunting around suggests that there is some re-growth in the spinal column as well - with one patient with SPG4 potentially showing some re-growth (https://hspersunite.org.au/huge-french-study-of-spg4-hsp/)

Diagnostic flowchart

The European Reference Network for neurological diseases (http://www.ern-rnd.eu/) has recently published a disgnostic flow-chart for HSP: http://brain-team.fr/ern-diagnostic-flowcharts/

This flow chart first asks if you have gene panels or genetic sequencing available. If you have then use this, otherwise only test for SPAST/SPG4 (unless you additionally have ataxia). Beyond this it is a diagnosis of exclusion - and a long list of tests which could be done and other things to look at have been suggested to end up with an HSP diagnosis if all other things have been excluded.


Drug re-classification

Some of you may use Gabapentin or Pregabalin for your HSP. If you're reading in the UK these two are changing their classifications, they will (from 1st April) be "schedule 3 controlled drugs" which means that you may have more difficulty getting hold of this medicine. It seems that additional information needs to be given on the prescription, the amount you can receive may be reduced, and getting repeat prescriptions may be more tricky.
https://www.england.nhs.uk/publication/rescheduling-of-gabapentin-and-pregabalin-as-schedule-3-controlled-drugs/

Friday, 22 March 2019

Another interesting HSP paper

It seems like a busy time for HSP research at the moment. Readers may be aware that I published a post recently about my most interesting papers from 2018 (https://hspjourney.blogspot.com/2019/01/2018-hsp-research-overview.html). There are a number of other interesting things which have come out since then. This post covers one.

Researchers in Italy have published a review of HSP treatment approaches. You can read the full text of this here: https://www.frontiersin.org/articles/10.3389/fneur.2019.00003/full -

My summary is that there isn't much data out there which supports the approaches being used on a day-to-day basis to treat HSP. I find it interesting that there is no report of oral baclofen, tizanidine or diazepam are included, and the overall conclusions that there are not many studies is also borne out as there is no discussion on treatment of the other HSP symptoms - pain, continence or studies showing treatments like physiotherapy or walking aids improving things.

My highlights (with liberal use of copy,paste,cut) of the paper are:

Introduction

There currently exist no specific therapies for HSP, and treatment is exclusively symptomatic, aimed at reducing muscle spasticity, and improving strength and gait. The authors set out to perform a comprehensive systematic review of the available scientific literature on the treatment of HSP, Two authors independently analyzed 27 articles selected on the basis of a series of inclusion criteria. The 27 articles focused on pharmacological treatment (n = 17 articles), physical therapy (n = 5), surgical treatment (n = 5).

Pharmacological Treatments

Gabapentin
Gabapentin is an antiepileptic and antinociceptive drug. To evaluate its antispastic action, gabapentin was tested in a double-blind, prospective, crossover placebo-controlled trial in patients with SPG4-linked hereditary spastic paraplegia. Ten adult patients were included. Overall, no statistically significant clinical differences were found between gabapentin and placebo. The quality was rated as good, however the assessors urged caution, given the very small size of the sample considered.

Progabide
Progabide is a highly selective GABA receptor agonist. In a double-blind crossover trial involving two 14-day treatment periods, progabide was compared with placebo in 16 adults with spasticity, two of whom had a clinical diagnosis of HSP (with an unspecified molecular etiology). Outcome measures were: spastic hypertonia, reflex responses and flexor spasms . Progabide was found to significantly reduce spastic hypertonia, reflex responses and flexor spasms. The quality of this study was rated as moderate. However, only two patients had an HSP-related form of spasticity. Furthermore, the treatment was short-term and the selected outcomes were not clinically significant.

Dalfampridine (4-Aminopyridine)
Dalfampridine is a voltage-dependent potassium channel blocker used to improve walking ability in patients with multiple sclerosis. We reviewed two prospective, uncontrolled, open trials. The first study included 12 adult patients affected by HSP who were treated for 15 days. After treatment, patients were categorized into two groups: “responders” (n = 6 patients), who showed an improvement of >20% in any of the three tests (TWT, SPRS, and MSWS-12), and “non-responders” (n = 6 patients), who by definition recorded improvements of < 20% in all tests. However, these results must be interpreted with caution for several reasons: no control group was included and no information was given on the HSP patients' phenotype (pure/complex) or disease duration, and their molecular etiology thus remained uncertain. Overall, the quality of this trial was rated as low (8/22).

The second study enrolled five adult patients, all with definite HSP: four with an SPG4 form, and one with an SPG15 form. Dalfampridine, 10 mg, was administered orally twice daily for 15 days. Patients exhibited significantly improved assessment scores. This trial was uncontrolled and the sample size small, and overall its quality was considered low (7/22).

Recently, six patients with SPG11 received 10 mg dalfampridine twice daily for 12 months. A global improvement in motor function was observed and less fatigue was reported. The patients showed an improved ability to concentrate.

Botulinum Toxin Injection
Intramuscular injection of botulinum toxin type-A (BoNTA) is one of the primary treatments for focal spasticity. In an uncontrolled clinical trial, 15 adults with confirmed HSP were treated with BoNTA injections in each triceps. This was followed by 18 weeks of daily stretching exercises. After treatment, mean comfortable gait velocity increased significantly, whereas balance and the other functional measures remained unchanged. The quality of this study was low (6/22).

In another study  involving 19 unselected adult patients with a probable diagnosis of HSP, treated with BoNTA showed some improvements. In a retrospective study 10 patients with HSP received BoNTA and physical therapy for 5 years. Over time they showed significant improvements both in muscle tone and in baropodometric examination parameters. Overall, the quality of these latter case studies was very low.

L-Dopa
L-Dopa is an amino acid precursor of dopamine, essentially used in Parkinson's disease. Six open-label, uncontrolled studies were identified:

  • Two siblings (aged 16 and 18 years).
  • One subject with HSP and parkinsonism 
  • Two studies described five additional subjects with HSP resulted in a partial improvement of motor symptoms. 
  • A mother and a daughter with SPG8 whose spasticity improved after L-Dopa therapy. 

These studies were considered anecdotal, and of barely acceptable quality.

Cholesterol-Lowering Drugs
SPG5 is a rare subtype of HSP.  In one study, two adult siblings were treated with cholesterol-lowering agents: one received simvastatin for the first 12 months, after which ezetimibe was used in combination with simvastatin for a further year. His sibling received only ezetimibe for 12 months. In both patients an SPG5 biomarker significantly decreased, whereas muscle strength scores did not change. The quality of this study was rated as very low (2/22).

In a more complex study in SPG5, atorvastatin was used for 9 weeks in 14 patients and the primary endpoint was a reduction in serum 27-OHC levels. Atorvastatin, but not placebo, reduced serum 27-OHC by 31.5% (p = 0.001). This was deemed to be a high quality (20/22) study, despite being a short-term trial that did not consider any clinical outcome parameters and failed to clarify the long-term impact of cholesterol-lowering agents on disease severity.

A phase II therapeutic study of atorvastatin, chenodeoxycholic acid, and resveratrol was carried out in 12 SPG5 patients. Although well-conducted, the quality of this study was deemed to be moderate (9/22) due to the absence of randomization and blinding.

Collectively, these studies offer the first illustrations of a causal treatment strategy in the SPG5 form of HSP. However, aspects still needing to be investigated include the clinical efficacy of cholesterol-lowering drugs and the question of whether biochemical parameters reflect neurological impairment in vivo. On the other hand, these preliminary data suggest that it would be useful to evaluate the long-term effects of these drugs in SPG5.

Betaine and Folinic Acid
The literature search revealed two case series of patients with complicated HSP  who showed clinical improvement after treatment with betaine and vitamins. In the first report, Four patients were  described four patients. All patients were treated with vitamin B12, folic acid, folinic acid, and betaine anhydrous. Betaine treatment resulted in a rapid and sustained reduction in homocysteine levels in all the patients and, over a period of nine to 15 years, improved the conditions of three of them. However, no objective clinical tools were used to assess efficacy.

The second report described two adults treated with betaine, folinic acid, vitamin B12, vitamin B6, and ASA as prophylactic agents. One year after starting treatment, their SPRS score decreased from 14 and 15 to 12, respectively.

Overall, these clinical studies suggest that betaine and vitamin supplementation may be useful in the rare cases of HSP caused by MTHFR deficiency. However, they were open-label and uncontrolled studies, and their quality was rated as very low.

Physical Therapy

Electrical Stimulation
No RCTs have been conducted to assess the effectiveness of electrical stimulation in HSP treatment. A single published study met the inclusion criteria for this review. The case report in question described a 26-years-old man whose motor function improved after treatment with electrical stimulation of the quadriceps and anterior compartment musculature two to three times per week for 3 months. Gait analysis performed revealed a 27% increase in velocity, associated with increases in cadence, and right step length. The quality of this case report was rated as very low.

Robotic Gait Training
One uncontrolled trial aimed to test the effectiveness of a robotic-aided intensive training program in adults affected by pure HSP. The study included 13 adult patients undergoing rehabilitation treatment (three sessions per week for 6 weeks). At the end of the treatment, statistically significant improvements were observed in some measures, including quality of life. The quality was rated as low.

One study described the outcome of robot-assisted gait training combined with physiotherapy in a 28-years-old man with pure HSP. This patient underwent 25 training sessions over a period of 6 weeks, after which functional assessments showed some minor improvements in walking speed and balance. The quality of this case report was considered to be very low.

Hydrotherapy
The effectiveness of hydrotherapy treatment in improving locomotor function in patients with late-onset HSP was evaluated in a small, uncontrolled trial. Nine HSP patients underwent a 10-week course of hydrotherapy based on 45-min sessions of treatment. Significant pre- vs. post-therapy differences were observed in some measures, and the integration of these measures provides some insight into locomotor inefficiencies and compensatory gait strategies implemented by individuals with HSP. The design of this short-term trial was poor and the study was deemed to be of low quality.

Physical Therapy
There exist no clear indications on appropriate types and timing of physical therapy in HSP. One report described two adult siblings with HSP who underwent an intensive 8-weeks stretching, strengthening, and functional exercise program, administered in 60- to 90-min sessions (daily, 6 days/week). All measures showed improvements at the end of the intensive treatment program. Although the results of this study appeared promising, it lacked precise data on the improvements reported. Its quality was rated as very low (2/22).

Interventional and Surgical Therapies

Intrathecal Baclofen
Baclofen is a muscle relaxant and antispastic agent that acts by activating GABAB receptors. It can be administered orally or intrathecally. Intrathecal baclofen (ITB) has greater therapeutic efficacy and less systemic toxicity compared with oral preparations.

In an open study, 14 out of 16 adult non-responders to oral antispastic drugs were implanted with a pump for intrathecal administration of the drug. The treatment was found to reduce lower limb spasticity in all the patients. Walking ability was improved. The quality of this study was rated as low showing that there is still a lack of recommendations on the use of ITB in HSP.

Dorsal Rhizotomy
Selective dorsal rhizotomy (SDR) is a neurosurgical procedure serving to selectively destroy problematic nerve roots in the spinal cord. It can be used to relieve spasticity in cerebral palsy, but has also been tried in HSP.

In an uncontrolled prospective trial, four adults with an undefined form of HSP underwent the procedure. The average score improved after treatment, with no significant difference between the scores at 1 and 2 years after SDR. Lower limb spasm scores also improved significantly. All these improvements remained stable throughout the follow-up period, with no local or general complications appearing in any of the four patients. Overall, the quality of the study was considered low.

A retrospective study of four HSP children who underwent SDR was reviewed. All the patients showed reduced lower limb spasticity after the procedure, and this change was maintained over long-term follow-up (range 44–252 months). However, progressive functional decline was observed in two siblings diagnosed with the infantile-ascending form associated with mutations in ALS2. This study was rated low quality (2/22).

Discussion

No recommendations on new therapies are emerging, and it is depressing to note that these patients continue to be treated in the same way as they were in the “pre-genetic era.” In short, symptomatic treatment remains the cornerstone of HSP management. As things currently stand, few trials have evaluated specific HSP treatments, while there is a paucity of robust clinical trial data supporting the efficacy of even the most widely used symptomatic drugs.

There is no doubt that the search for an effective treatment for HSP needs to be stepped up. At present, several preclinical avenues of research are offering interesting findings that may open the way for specific pathogenetic therapies in selected forms of HSP and promising data are begging to be used to improve clinical efficacy. Tests or scales adopted to measure fatigue and quality of life might serve in general in HSP but could be inappropriate in more complex setting or in young children. Today well-designed clinical trials of symptomatic drugs for HSP treatment are clearly lagging behind.

There is a need for RCTs with sufficiently large samples and precise biological outcome measures, to evaluate the efficacy of the treatments already in use in current neurological practice.