Review of 2021

Annual Review: 2021

So we have completed another orbit around the sun, so it is time to reflect on my thoughts and activities that have happened throughout the year.

Knowledge

Similarly to 2020, 2021 has felt hectic. There have been one or two interesting looking papers on HSP which I have spotted recently, and I will attempt to review in early 2022. A quick review shows that there were just over 200 papers on HSP published in 2021, which appears to be the first year this total has been reached (there were between 100 and 200 papers every year 2013-2020), so there is plenty to look at!

My other key area of knowledge has come through my mum. She has been experiencing some changes in symptoms in the latter part of 2021, which has given me a lot to think about, and some key insights into symptoms changes further down the HSP journey than I am now. 

Symptoms

I think the key word for symptoms for 2021 is fatigue. I have been feeling a lot more fatigued than before. I discussed this at my neurologist appointment this year, and will update on that in a few months time. The other main point from that appointment is that I am not yet at the point where I need to think about spasticity medication. My appointments are now annual rather than bi-annual.

On the less obvious front, I'm finding that I need to use my arms more to assist with standing up, and that as noted last year I'm needing to sit down after less standing/walking time. I think that my muscle strength is starting to go. I havent cycled as much as last year. In 2020 I got to 6000km, and I had decided that was more than I wanted to do in 2021, so I set myself a 5000km target. I was on-track until September (about 3500km), when all kinds of other things started going on. A consequence of considerably less cycling has been weight gain, which means that my body now has to work harder to move my increased weight around. 

I've realised that I need to change my description of when I think I might consider myself disabled. I've been saying "5 to 10 years" up until now (which is sufficiently far in the future to put it out of mind), but I think that I ought to revise that to "some 5 or so years" - or something like that. It is relevant to note that my mental health has been affected a bit.

This Blog

I'm really pleased with the continuing readership of this blog. My audience remains broadly the same (predominantly UK, USA, Canada and European countries: particularly France, Netherlands and Germany, as well as Australia, Brasil 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 communities and 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 annual pattern of my surveys is well established. My 2021 survey has a new highest number of responses, being almost 600 as I write this post. The main change is the addition of German to the languages and promotion through the German and Austrian groups. As recent years I have collaborated across countries getting the questions right. Results will be out on 28th Feb after the majority of analysis during January.

Community Contribution

HSP Community activities for 2021 included:

• Preparing a trustee recruitment advert for the Support Group
• Starting up a Instagram channel for the Support Group
• Carrying on with the Enable disability network at work
• Involvement with the new ED&I group at the Institute of Acoustics
• Representing the UK at EuroHSP
• Analysing and reporting the results of my survey to share with the HSP world
• Continuing this blog and posting/discussing HSP things on twitter
• Working with PARC on the latest grant application

The main element of my community contribution comes from being chair of the HSP support group, with the key activity being our 1000 mile challenge. Whilst we are getting various issues resolved, there are still many to go. I'm working with the rest of the trustees to ensure that the group continues to support its members in the most appropriate way - please reach out to help us.

HSP Support Group Recruiting

Hello all!

This post is a quick plug for the UK HSP Support Group. Regular readers will know that I am currently Chair of the support group.

We are currently recruiting for trustees - so if you fancy making a difference to our group then please drop me a line, and I am happy to chat! - please read our advert below.

For more information and to apply please follow this link: https://hspgroup.org/want-to-be-able-to-help-the-group/.

I am happy to talk with interested people. Let me know if you can help as a trustee or any other way.

The HSP Support Group is a small friendly UK charity providing a supportive community for people with the rare neurological condition Hereditary Spastic Paraplegia, or HSP. There are no cures for HSP.

We are seeking at least two new trustees to sit for a 3-year term, as our Treasurer and Secretary will stand down at our AGM (summer 2022). We would be delighted to hear from people keen to help us manage and run our community, helping us grow and develop.

Trustees help committees, make decisions on activities and finances, and take on tasks to move things forward. Trustees meet 4–5 times a year online for a few hours in the evenings.

You may be just the person, if one or more of these sound like you:
» Kind, honest, diplomatic, considerate and engaging
» Enjoy developing ideas and concepts to help the group
» Take ownership of responsibilities and fulfil them

As a trustee you have opportunities to:
» Shape and influence the direction of the group
» Meet similar minded people and develop useful networks
» Ensure the group provides the support needed by our members.

New Shoes, Symptoms Update!

 A quick post to cover a symptoms update and a report of new shoes.

New Shoes

Time has passed and another pair of shoes has elapsed. My last new shoes post was May 2020, and I got my new shoes in late October 2021, which gives that pair a lifespan of about 18 months. All in all it seems that a new pair of shoes every 18 months is the general order of things, as documented here:

Date	Months	Activity	Post
Oct-14		Note new shoes	https://hspjourney.blogspot.com/2014/10/symptoms-update-and-trip-to-doctor.html
Apr-17	30	New shoes	https://hspjourney.blogspot.com/2017/05/shoe-wear-update-data.html
Nov-18	19	New shoes	https://hspjourney.blogspot.com/2018/12/more-new-shoes.html
May-20	18	New shoes	https://hspjourney.blogspot.com/2020/05/new-shoes.html
Nov-21	18	New shoes

The last pair of shoes look like this: 

I decided to go for the same shoes again - Karrimor Supa 5.

Symptoms Update - Fatigue Management

I went to the HSP clinic at the National Hospital for Neurology and Neurosurgery, in London recently. It was good to be out and about, and I had a little time to pop into the British Museum which is quite close to the hospital. Overall there is no big changes needed with the way I am doing things, although I need to focus on trying to bring my evening stretches back into play.

The main topic of conversation was fatigue management, as I am finding that I am tired a lot of the time. Steps I am now taking to manage my fatigue, with the aim of improving my sleep quality:

• Relatively consistent bed time - by 11pm
• Less caffeine in the afternoon - I am now generally having none in the evening, and only the odd one after lunch.
• Less night-time screen-time - I've subscribed to the paper edition of New Scientist magazine!
• Alternative bladder medication

The alternative bladder medication is the main change - I have switched from a tolerodine based medication to an oxybutnin based one, in order to see if I can go to the toilet less often during the night. I have now been on this new medication for a week or two. The initial thought is that there may be a bit of a reduction in the number of night-time visits, but these have not been eliminated completely. There is scope for adjusting the dose level of oxybutnin, which I will be discussing with my GP.

I track sleep quality using FitBit, so I will review this in a few months time once there is a bigger set of data.

Challenging Stereotypes Interview

Hello all.

At work I'm co-chair of our staff network for people with disability. During October there was a series of interviews with people from under-represented groups, which included one with me covering disability. I have repeated the interview here:

Challenging stereotypes: Interview with Adam Lawrence

As part of National Inclusion Week, we’re publishing five interviews throughout October with colleagues who have been subjected to stereotyping to help shine a light on their experiences and what we can all do to support them. 

This week, we’ve spoken to Adam Lawrence, who is an associate in our Infrastructure business, co-chair of our Enable network as well as chair of the HSP (Hereditary Spastic Paraplegia) Support Group - a small charity providing support to those in the UK with HSP. 

In our short interview below, he talks about living with HSP and the experiences of being stereotyped as a result of being in a wheelchair.

Hi Adam! What can you tell us about your condition and the kind of stereotyping you have experienced?

I have the rare neurological condition, HSP, which is a slowly progressing condition that causes nerves in the spine degrade. This affects the mobility of most people, as well as often causing pain, fatigue and bladder problems. 

HSP is actually an umbrella term - more than 90 different types of HSP have been identified to date. Because HSP is a rare disease, it’s not known by many healthcare professionals. This means information is hard to find, many have a long diagnosis journey, and people often feel depressed, isolated and frustrated.

My type of HSP is dominantly inherited, and I’ve inherited it from my mother. I’ve been showing mild symptoms for the last 5-10 years, but I don’t yet regard myself as disabled and have not directly encountered many stereotypes. My type of HSP is unlikely to affect my cognitive function or decrease my lifespan – although, I’ll increasingly need to use mobility aids and will require modifications to be made at home in the future, much like I see with my mother.

I’ve been blogging about my experiences with HSP since 2010 as well as running an annual survey for people with HSP since 2013. I have the collective experiences of some 1,500 people who have answered my surveys over the years, some 400 members of the support group, and the views of others with HSP in various private HSP social media groups.

I haven’t really experienced any direct stereotyping – some who have observed my ‘interesting’ gait assume that it’s the result of an injury. However, when someone is in a wheelchair people often assume that the person is completely unable to walk and are surprised when the person gets up and does something different. Others assume that the person in the wheelchair is less able to think and/or communicate and find it difficult to hold a direct conversation with that person. 

Many make assumptions about what someone can or cannot based purely on their wheelchair, assuming it to be a burden on life. Using a wheelchair can give the person the freedom to travel where they like, and free up energy which would otherwise have to be spent moving at low speed and great effort.

How do you think these experiences can affect somebody at work and in their personal life?

I haven’t experienced anything negative at work, but I’ve read lots of stories about people who have been made redundant as a result of their HSP. People with health conditions or disabilities often fear that they will be perceived in a way they don’t want should they declare their diagnosis. 

Many are frustrated by not being able to do what they once could do or are prevented from doing what they wish they could do, affecting their outlook on life. The challenge for me is balancing the amount of time I spend helping in this area against spending time looking after my own wellbeing.

How do you usually challenge stereotypes? 

I like to focus on facts and details and understand how stereotypes are formed – stereotypes are often formed from a lack of knowledge and challenging at the start helps dispel them. My main focus however is to help those with HSP to be more confident about themselves and to try to do more on their own terms - credit to Ellie Robinson for this concept!

How can our employee networks, colleagues and the business support those who are facing challenges around being stereotyped?

The employee networks are important because they show to the whole company that we’re accepting of everyone. They provide a safe space to share and let people know that there are others like them in the company – this in itself helps reduce feelings of isolation or uncertainty.

And finally, why do you think it’s important that people do more?

Those with disabilities have as much of a right to enjoy life as everyone else. We need to challenge the biases and practices that so frequently put those with disabilities into a “second class” lifestyle when really everyone should be travelling in the same class. Society puts up many barriers, and most of them are unnecessary. Change is needed, and change doesn’t start without action.

******

Post interview note, Nov 2021 - When I did this interview I estimated the 1,500 people who had answered my questionnaires, out of some 1,700 answers in total. Subsequently I completed a more in-depth analysis. In practice I have around 1,100 different people who have answered. This is a positive result because it means I have more longitudinal data points - there are around 350 people who have answered more than one survey (giving 950 answers in total) and around 750 who have answered any survey once.

2021 AGM - Mindfulness, Acceptance and Values

The 2021 AGM presentations followed the path established in 2020, with talks scheduled after the AGM on separate days. Our third presentation was Ray Owen who talked about mindfulness, acceptance and values, particularly using mindfulness with acceptance. 

You can see the video of the presentation here: https://www.youtube.com/watch?v=KnaXYQFqpXc

Concepts

The concept of mindfulness originates in a variety of eastern philosophies, faiths and religions - particularly in Buddhism. Ray noted that the concepts pre-date Buddhism, and were in early Hinduism. There also are some overlaps in Christian and Islam, although these overlaps are not using mindfulness in the same way. 

The key person bringing mindfulness into the current usage was Jon Kabat-Zinn. This stems from his realisation that there are many people who have to live with health conditions and illnesses for which there are no medical interventions - and therefore doctors have no treatments which they can offer. Jon effectively re-purposed some aspects of Buddhist practices into non-religious and healthcare settings.

What is mindfulness?

Mindfulness is paying attention in a particular way. Attention is paid on purpose, to the present moment (rather than the past or future), and noticing (rather than thinking about). The aim is to be able to come back to noticing things rather than thinking about things.

Mindfulness is practiced in various classes and religious settings, but there are are also activities where you practice mindful behaviour naturally. Ray gave examples of rock-climbing, and situations where you get absorbed in activities like painting or gardening. Other situations where mindful techniques are used include tai-chi and yoga. Ray noted that whilst mainstream images of yoga and tai-chi are idealised, these practices can be followed by almost anyone.

Aims of Mindfulness

Mindfulness is similar to calmness, however it doesn't mean that difficult stuff goes away, it is more like being in the eye of the storm and being able to observe the situation in a clam way.

Mindfulness can reduce the minds tendency to wander, which it often does, sometimes to unhelpful places. It can also reduce the tendency to have auto-pilot reactions, and allow us to step in and choose how we react to a situation. It also makes us better at noticing and being aware of things.

Our minds naturally wander from one thing to another. Being mindful is about noticing where your mind goes and choosing where to focus your attention. You can be in control of where you focus your attention and can bring your focus back to the present moment. You choose the next step which suits you best.

Adopting mindfulness requires practice, so that you are able to deploy these techniques when you need them. Many practice mindfulness every day, perhaps for a few minutes setting yourself up for the day.

Acceptance

A question often asked is "what if I don't like the present moment?" - You can choose to avoid the present moment every now and again, but doing this too often is not helpful. This brings the concept of acceptance to the fore. It is beneficial to accept that difficult thoughts or feelings can occur. Having a range of feelings is natural, there are good reasons for having a range of thoughts.

It is your minds job to look out for things, to solve problems and keep track of important things. People are bound to have worries, doubts and painful thoughts about some of these topics. The issue is how we choose to react when these thoughts occur. Having thoughts about giving up, about trying to solve problems outside of our control or avoiding difficult topics can cause more disruption than having the thought in the first place. However, trying not to think about these things often makes the thought stronger.

The mindfulness approach is to make room for these thoughts, but not to let them take over. Bringing your thoughts back to the present moment can help with this.

Values

One goal for life could be to live life with fulfilment, where we spend out time doing what matters to us.

If you dont know what matters to you, then think in single words about how you want to behave to people who are important to you - these are your values. Examples might be around trust, fairness, honesty and so on.

Values are what we stand for in life, how we want to behave, what sort of person we want to be, and what sort of strengths and qualities we want to develop in ourselves.

Acting on your values is doing things which fit within those values. These actions can bring about some difficult feelings, and mindfulness approaches can help here.

Conclusion

The three topics covered here are interlinked. The mindfulness side helps you be aware of what is going in inside you and around you. The acceptance side allows you yo make room for thoughts without letting them take over, and the values side helps you to know what matters to you. Each of these three things are linked to each other, making a triangle of steps which can help.

 

  

2021 Survey Open

I am pleased to announce that my 2021 survey is now open. This year questions are available in English, Italian, Dutch, French, Spanish, Portuguese and German. These languages are the same as last year, with the addition of German. Click on the relevant link in the table to below to access the questions in that language.

The focus for this years survey is: 

• Relationships
• Information
• Acceptance
• Life with HSP, including some bladder questions.

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 2021, with results published on Rare Disease Day 2022 - Monday 28th February.

As with previous surveys only "name" and "country" are required questions. Answer all others that you want. 

Language	Link to access survey:	Responses  30 Dec
English	https://forms.gle/TsmuSMgjUfsy8Qda8	253
Dutch	https://forms.gle/2uFSUrBKqQNQk76b9	57
French	https://forms.gle/q1KxTUUaKWYnYcSp6	52
German	https://forms.gle/CB3hR244u3td1m7M9	119
Italian	https://forms.gle/enzQdmyUmySumTi4A	18
Portuguese	https://forms.gle/Jvir1BW7GcpyrTNJ7	77
Spanish	https://forms.gle/rRyL51wNHM3tzfL46	19

15th December - Now over 500 responses!

Data update - Selected results from a combination of the English and German results on 8^th December.

83% of people with HSP consider themselves to be disabled, which is a similar result to previous years.

Two thirds of people are completely comfortable discussing their HSP with their partner or family. Some 6% are not comfortable discussing this, with the remainder being comfortable some of the time.

Almost two thirds of people are in a long term relationship. Of these, three fifths say that their HSP does not affect their relationship. Three in 10 consider that their HSP affects their relationship negatively and one in 10 consider that their HSP has a positive effect on their relationship.

About 85% of people identify that they have bladder issues. Of these, just over a quarter of people take no action to control this, and almost a third take medication. Roughly one seventh indicate they drink less than they used to and a similar number say that they train their bladder muscles. The majority of the remainder use a catheter, with a small number of people getting Botox injections. Many people indicated that they also use pads, incontinence pants or nappies.

Useful web page - A to Z from an MS perspective

Hello all,

The end of the month is fast approaching, which means that its just for me to slide in a short post for my second September post. Those who like to look forward can note that the two October posts should be the write up of the 3rd AGM presentation from the UK support group, and the launch of my 2021 HSP survey. Unfortunately neither of these are quite ready today!

So, here are details of a very useful resource from the Multiple Sclerosis Trust. This is a similar group to the HSP support group, finding information and providing support to people with MS in the UK.

They have prepared an A to Z of things relevant to MS: https://mstrust.org.uk/a-z. The list contains details of treatments, symptoms and common terms. MS is one of the conditions which is often misdiagnosed on peoples journey to HSP, and there is a good overlap in symptoms between HSP and MS.

So, with the caveat that the advice may not be completely relevant, you can look up the more common treatments used for HSP (Baclofen, Botox, Tizanidine, Gabapentin, etc. etc.) and you can find out where the treatment comes from, what it does and doesn't do. Remember the What does XXXX do for MS may not be the same as what it would do for HSP.

There are descriptions of the MS symptoms like Walking Difficulties, Fatigue, Pain, Bladder/Bowel problems (and so on) and you can get an overview of these. As noted, there is a large overlap of symptoms between MS and HSP, but there are also some differences.

Overall, there is a lot to look at. Being a UK organisation the details on benefits and accessing specialist services are from a UK perspective.

Enjoy browsing!

    

Hereditary Spastic Paralympians!

Please excuse the play on words in the title of this post - I suspect it wont translate well into other languages!

Readers may have noticed that the Paralympics followed after the Olympics, and I knew that there were a few people with HSP who were taking part. This post notes who they are and how they did.

Overall Team HSP has 8 athletes from 7 countries, who in total got 2 Gold medals, 2 Silver medals and 3 Bronze medals. I note that I didnt find out about one of these athletes until after the Games had finished.

Congratulations to all!

Evan Austin

Evan Austin (Team USA) won two medals, a Gold in 50m mens S7 butterfly and a Bronze in 400m mens S7 freestyle. Evan also competed in the finals for the SM7 200m individual medley and the Mens 34 point 100m freestyle relay, and also the 34 point 100m medley relay.

You can read Evans details here: https://www.teamusa.org/usparaswimming/athletes/Evan-Austin and https://www.paralympic.org/evan-austin - his Twitter bio reads: "Professional swimmer and speaker. Massive sports fan. My legs aren’t great but I work with what I got. Born with limits, living without them. Let it ride." 

You can follow: https://twitter.com/E_A_swim and https://www.instagram.com/e_a_swim/ 

Roman Polianskyi

Roman Polianskyi (Team Ukraine) won Gold in the PR1 mens single sculls, setting a new Paralympic record along the way.

You can read Romans details here: https://www.paralympic.org/roman-polianskyi and here https://en.wikidat.com/info/roman-polianskyi. Roman switched from para-canoe to para-rowing. 

I've not been able to find Roman on social media.

Toni Ponce

Toni Ponce (Team Spain) won 2 Silver medals in the pool, in the 200m S5 freestyle and the 100m S5 breaststroke. He also competed in the finals for the S5 100m freestyle, S5 50m backstroke and the 20 point 4*50m freestyle relay, and in the S5 50m freestyle.

You can read Toni's details here: https://www.paralympic.org/antoni-ponce-bertran 

You can follow: https://twitter.com/tponce87 and https://www.instagram.com/toni_ponce/

Rebecca Hart

Rebecca Hart (Team USA) won Bronze in the Equestrian Team Test to Music. She also competed in the Grade III individual test.

You can read Rebeccas details here: https://www.teamusa.org/para-equestrian/athletes/rebecca-hart and https://www.usef.org/team-usa/athletes/rebecca_hart. Rebecca has written to the UK Support Group: https://hspgroup.org/wp-content/uploads/2020/05/045-Sept-2018.pdf

You can follow: https://www.facebook.com/RebeccaHart136/ or https://www.youtube.com/results?search_query=rebecca+hart+para+equestrian

Laila Suzigan Abate

Laila (Team Brazil) won Bronze in the 20point 4*50m freestyle relay. She also competed in the S6 400m freestyle final and the S7 100m freestyle and S6 50m freestyle.

You can read Lailas details here: https://www.paralympic.org/laila-suzigan-garcia 

You can follow: https://www.instagram.com/lailasuzigan/ or https://www.facebook.com/lailasuziganoficial

Ian Marsden

Ian (Team GB) competed in the final for the Men's KL1 200m Single Kayak.

You can read Ians details here: https://paralympics.org.uk/athletes/ian-marsden and https://ianmarsden.com/. Ian used to compete in power lifting (holding 3 world records) and switched to para canoe.

You can follow: https://twitter.com/IanMarsdenGB or https://www.instagram.com/ianmarsdengb/

Hallie Smith

Hallie (Team USA) competed in the final for the Women's PR1 Single Sculls.

You can read Hallies details here: https://www.teamusa.org/us-rowing/athletes/Hallie-Smith Her Twitter bio says: "Team USA Paralympian 2020ne. Coach, athlete, and advocate. Hereditary spastic paraplegia, so my legs are for aesthetic purposes only"

You can follow: https://twitter.com/smithonwheels or https://www.instagram.com/smithonwheels/ or https://www.facebook.com/HallieSmithParaRower/

Austin Smeenk

Austin (Team Canada) competed in the finals for the T34 100m and 800m. 

You can read Austins details here: https://paralympic.ca/team-canada/austin-smeenk and https://www.paralympic.org/austin-smeenk

You can follow: https://twitter.com/austin_smeenk or https://www.instagram.com/austinsmeenk/ 

  

 

2021 AGM - Falling With HSP

The 2021 AGM presentations followed the path established in 2020, with talks scheduled after the AGM on separate days. Our second presentation was Coralie Seary who is a physio from the National Hospital for Neurology and Neurosurgery in London. She talked about falling with HSP. Her work is in the clinic rather than research and she specialises in helping people with walking difficulties, most usually with FES or orthotics.

You can see the video of the presentation here: https://www.youtube.com/watch?v=f68yaDzYtvQ

Most of the information about people who fall is based on the elderly. One in three people who are over 65 have about 1 fall per year, increasing to one in two over 80. Those with neurological problems are twice as likely to fall as those without.

If you have a serious fall it can lead to a serious spiral with people fearing falling, people being less active, leading to decreases in strength or balance, leading to another fall, and so on.

There is a range of falling, with the most extreme being falling to the ground, but there are also near misses where you can prevent yourself from falling, and trips and stumbles. 

Falling is normal! Some falls can be considered acceptable whereas others are not acceptable. Acceptable falls are ones where you dont injure yourself or have a head impact. They might also occur where you are in a challenging balance situation - perhaps uneven/slippery ground or during sport/exercise. Unacceptable falls are where you do have injury/head impact, if it is a normal everyday activity or if you are in a vulnerable population. Coralie noted that having HSP is more likely to put you in a vulnerable population.

Risk Factors for Falling - Intrinsic

There are a number of generic risk factors which increase your risk of falling. If any of these apply then with some management they may reduce your risk of falling.

• Being older (older than 65)
• Having a walking impairment
• Having other chronic conditions (perhaps arthritis)
• Reduced muscle strength
• Impaired balance
• Fear of falling can increase your risk of falling again
• Dizziness (perhaps from postural hypotension)
• Inner ear/vestibular problems
• Vision (make sure your glasses prescription is up to date)
• Foot problems (painful corns, toenails, appropriate footwear)
• Poly-pharmacy - taking multiple medications
• Alcohol

Pairing one or more of these with HSP can increase your risk of falls further. Some of these can be managed to improve risk.

Risk Factors for Falling - Extrinsic

There are a number of other risk factors which increase your risk of falling.

• Light levels - either very dark or bright glare
• Obstacles around the house - wires, rugs, piles of books/toys, etc.
• Surfaces that you walk on - can choose footwear/aids to help in some circumstances
• Footwear - some types of shoes can help walking. Make sure shoe laces are tied
• Clothing - long clothing can get in the way of walking
• Ergonomics - minimise the number of turns you have to do to complete tasks, for example making a cup of tea in the kitchen 
• Use of inappropriate walking aids - check your aids are still appropriate, and clear out old ones.

Similarly, these can be considered so that you minimise the risk of falling.

Risk Factors for Falling - HSP Specific Factors

There are a number of other HSP specific risk factors which can increase your risk of falling.

• Gait patterns - inversion of joints, knees
• Weakness - hip areas, of perhaps its the timing of movement rather than weakness
• Stiffness - can cause imbalance
• Alignment of bones - can change centre of balance
• Sensory changes - e.g. change in information from skin to brain
• Fatigue - plan your day and energy use according to your expected fatigue levels
• Bladder problems - urgency can increase risk of falls, including at night.
• Reduced capacity for dual tasking

Aids to reduce risk of falling

There are aids which you can use to reduce risk of falling (and improve mobility), but it is recognised that often people have difficulties accepting the need for these devices. The best approach is to get used to using aids before having a fall, so some acceptance is needed.

Orthotics are external splits or aids to help pick your feet up and/or stabilise your gait. They can improve stability and/or the swing of the leg. 

Off the shelf orthotics are more flexible and can be a good introduction to using them. Custom made ones are usually more rigid and give you more control of the ankle/foot.

Insoles (or FFO, functional foot orthoses) can help control pronation (where feet roll in) or supination (where the foot rolls outwards).

Choosing your footwear can help a lot. The important factors are the shape of the sole, with a reasonable wedge to raise the heel and a toe spring at the front to help roll forwards on your foot. Some people find high boots are useful, and there are options for adapting existing shoes.

Neoprene or fabric ankle/knee supports/splits can give some support. Some look sporty others attach to your shoes. Carbon AFOs can give you some energy back when walking. The last type is a custom-made plastic AFO which gives the most support. The AFO can help re-align the leg and hip to improve gait. There are advantages and disadvantages to each type depending on what you need to do. There is NOT a one-size fits all approach for these with HSP.

An FES system stimulates the muscles when you move. They do not give you support when you stand still. They can help you walk further. Evidence suggests that using FES can improve peoples confidence walking rather than their walking speed or funciton.

Other aids to minimise risk of falls that you could use are walking poles, mobility scooters, wheelchairs, grab rails, stools (for sitting on), rollators/trolleys, adaptions to bath/shower. You may need different aids in different situations - indoors/outdoors, at home/away, etc. If you have these around your house and do not use them any more they can be an obstacle - get rid of them!

What else can you do?

• Exercise can help. Tai Chi is beneficial in older people in reducing risk of falling, and the benefit could be extrapolated for use in HSP or other neurological conditions 
• Strength and balance training is useful.
• Exercise should be high dose for benefits (least 50 hours over 6 months). Do something you enjoy!
• Stretches - maintain mobility, especially in calves
• Look at diet to maintain bone health - take calcium and/or vitamin D if diet is suboptimal or your are not doing weight bearing activities

How to fall

Plan how to fall. Consider the risk factors above. If you fall in one place then plan for a softer landing. You should relax and protect your head, and fall on your fleshy bits of your body. Falling on your bottom may be better than falling on your wrists. 

If you're able to, roll into the fall. You can find out better ways of falling - look up approaches that people with cerebral palsy follow - they can fall often.

Keep your mobile or an alarm handy so that you can get help, and if you live by yourself you may need a key safe so that people can get in to help you. It may be worth keeping blankets/pillows so that you are unable to get up you can keep yourself warm overnight.

To get up off the floor you should stay calm and assess the situation. It is worth practicing getting up so you've done it a few times. You can discuss falling and getting up techniques with your physio.

Symptoms update - my first fall!

So, I have been meaning to do a blog post for a few weeks giving a symptoms update. I have noticed some further changes in the last couple of months which would warrant a post, but I managed to go further than that and I fell - so that definitely makes the cut for a blog post.

Cycling Speed

I have been noticing over some time that my uphill cycling speed is dropping. I need to get into my lowest gear on relatively shallow hills more so than I have done before. This suggests that the power I'm able to deliver is decreasing. I will have to get out and try and go up something quite steep to see if it is possible! On a couple of my more regular routes there are some roads which people are often running along, and I am getting to the point when people running uphill are overtaking me sometimes!

Fatigue

This is one of those "is this HSP or not" things - I've been feeling quite fatigued more often, but I dont know if this is because it is due to increased effort moving coming from my gradually increasing spasticity or if it is because I am trying to fit too many things into my day (or indeed both!). I think that the solution is to do less, but I am far too stubborn to give up on things I have started, which makes doing less a challenge!

Pilates Update

Since Covid came into play everyone at my Pilates class now has their own equipment which they bring to class (face-to-face classes re-started earlier in the summer). Before Covid I had frequently borrowed a foam block (some 6-8cm think) which I would often sit on to make it more comfortable and to allow my spine to be more upright. When we moved to on-line classes I didnt have a foam block, but I do have a small step (some 15cm high) which my children used to get up to sink height when they were much smaller. This step helps me get more comfortable and allows my spine to be more upright (and I now take this to classes). I suspect at some point I'll need to increase the height again, perhaps to a small stool.

Also, at a recent class we used power loop bands, which we wore around our thighs at some points and around our ankles at other points. I found this particularly hard work, and I think that these power bands might be another good way of demonstrating what HSP is like to those who dont have it, especially around the thighs.

Difficulty Standing

I have previously mentioned in a symptoms update that I find it difficult to stand up from a full squat. The difficulty is now a bit wider than that, and getting up from the floor in many ways is becoming more tricky. I often find that I need to have something nearby to balance on to make it easier to stand up. When I am sitting down on my haunches I often need to use my arms to help stand up, either by pulling on something higher or pushing down to give me an assist getting up. This is partly to do with balance, and partly because I am worried that my muscles wont have the strength to allow me to stand up unadied.

I am sometimes also having to position my feet and position when standing up from a chair - particularly if it is a low down chair. Sometimes I will need to use my arms to either assist standing or to give me balance whilst standing. I wonder if it is time to start investigating baclofen....

Stairs and walking

I'm noting that I am using the bannisters more when going up and down stairs, and that my speed of ascent/decent is slowing down.

Now that I'm starting to get out and about with other people with the restrictions of Covid lifting I'm noting that my speed of walking is also slowing down. I dont really have any balance problems or difficulties walking, it is just that it takes a little longer to get places, and if I want to avoid my feet scuffing on the ground I have to concentrate on how I walk, which takes a little bit of attention and time. 

The Fall

So, I cant really mention having a fall without giving details. I fell whilst doing one of my stretches (the Adductor strech here: https://hspjourney.blogspot.com/2021/05/stretching-routine-2021.html). The photo there shows me stretching my right leg, but I fell whilst stretching my left leg. I had been noticing a bit of weakness there, and the muscle not feeling like it could hold my weight for some time now, but I have always been able to complete the stretch without falling until now (although it has been close a few times in recent weeks). Relating this to Coralies talk at the AGM I put this in the 'acceptable fall' box as I was doing something intentional!

In detail - I can get my leg onto the bed with my knee bent no problem, but the difficulty occurs when I straighten the leg, the adductors do not like that stretch, which I take to mean that they are somewhat spastic and not letting me get the full range of movement I want. I stretched the muscle further than it wanted to go, and it went back to where it wanted to be. The consequence of this was that my knee moved forward, my bottom moved backwards, I was not able to move myself to a more stable position quickly enough, and gravity decided that I would come tumbling down onto my bottom. Nothing was hurt or broken aside from my self-esteem!

The overall conclusion I draw is that my adductors are becoming more spastic, which is limiting the range of movement in my leg. The adductors are also used in pedalling my bike, so it may be that the reduction of uphill bike power as well.

The change that I have made to my stretches is to raise my leg to a lower height for that stretch so that I can keep my balance much more easily.

** Addendum 28th August 2021 - Symptoms Update from August 2020 **

After posting the text above I was scrolling through my draft posts, and realised there was this draft from August 2020 which I feel I didn't quite finish. So, here it is (with just a quick re-read and minor tweaks in brackets) 

I was taking a few minutes to track my first six months (of 2020) data in my spreadsheet the other day. There are a couple of things which have happened, and I am not sure that I have blogged about them previously. There are also a couple of other more recent changes, so this is a good opportunity to pop several things down in one place.

Stretching Routine

For quite a while I have only been doing one set of stretches per day. I had a look back through my Fit Bit history to work out when this started, and it turns out to be May 2019. Since this time I have dropped the evening stretches and kept up the morning ones. With one set per day I am being more rigorous with making sure that I do them (including the recently added crossed leg stretch), and that each session lasts for longer. 

Having said that, perception can be a funny thing. I reviewed the last few months worth of exercise logs, and whilst there are several weeks where I log 7 sets of stretches there are also several weeks where I'm down by a set or two. The reality is that I did drop some sets of stretches during corona virus, I didnt feel there was enough time to do everything, and on some days I took the choice to go on an early morning bike ride instead of do my stretches. Having to juggle; my work, being a part-time primary school teacher (during Covid lockdowns), things for the HSP Support Group, having some fun, getting some exercise and looking after my wellbeing all at the same time took a lot out of me and there was a fair bit of "dynamic re-prioritising" over this time! 

Bladder Medication

Back in mid 2019 I noted in a symptoms update post that I was trying the first of two approaches for bladder medication - i.e. taking the pill first thing in the morning rather than just before bed. This had been working well, although I was still noting the odd time when I was having some urgency issues. Earlier in 2020 I need to have a phone appointment with my GP to review the medication, and after discussing this we took the second option for a try - i.e. have half-dose pills and taking them twice a day instead of first thing in the morning. I take my two pills one first thing in the morning and the other at bedtime. I realise this isn't equally spaced in the day, but the timing works well. Again, I think this is also working well, and I think that the urgency problems have gotten smaller again.

Readers that have been reading for some time may remember that I swapped from Detrusitol to Neditol bladder medication in 2016 as there were some issues with getting supplies of Detrusitol at that time. I had left the dose information on my Symptoms Timeline page the same as the box clearly indicates that the dose is equivalent, however when I next update my Symptom Timeline page I will change the dose information to be more explicit about which medication and my dose.

Muscle Discomfort

A new symptom for me is that I am starting to find that my lower leg muscles are giving me a bit of discomfort, particularly in the evenings. If I leave my legs in one place then I can feel that there is some tension in the muscles which grows sufficiently so that I have to move my leg. I dont need to move my leg much, perhaps a few degrees change on the knee joint, or crossing my feet, or twisting slightly to one side or the other. I have a telephone appointment with the National in the autumn, and I'll bring this up with them as well and see if this is HSP or something else.

Walking and Cycling Limit

I think I'm noticing that my walking and cycling distances are becoming more limited again. For walking I need to find somewhere to sit down after shorter intervals. I know that I have mentioned this before, and it may only be a need to sit down for a couple of minutes, but my perception is that the distance/time between these "need to sit" pauses is becoming shorter.

On the cycling front, things have changed a little with corona virus, I have been working at home all the time since March (2020), which means that my biking has been entirely for pleasure since that time! At the tail end of last year I had sort of settled on needing to stop every 30km or so for a bit of a rest, and my approach was to try and plan my routes so that there was an enjoyable pub or cafe to stop at! At the start of lockdown pubs and cafes were all shut, so I had to go armed with snacks and stops were all open spaces with benches near my route. I think the conclusion is that the cycling limit is variable - some days I will need to stop and have a rest after 20km, whereas other days I can do a 40km plus route with only the odd brief pause. 

2021 AGM - Spectrum of HSP genes in the UK, building a biobank/registry for future biomarkers and trials

 The 2021 AGM presentations followed the path established in 2020, with talks scheduled after the AGM on separate days. First up was Professor Henry Houlden of the National Hospital for Neurology and Neurosurgery in London. He talked about the spectrum of HSP genes in the UK and about building a biobank or registry for future biomarkers and trials.

You can watch the presentation here: https://www.youtube.com/watch?v=HtgQO-_vNBQ

What is HSP?

Henry began with an overview of HSP. HSP is a genetic condition caused by a mutation in your genes genes. HSP is usually caused by a mutation in a single gene, and this applies to all people with HSP even if your gene has not yet been identified. It is also important to note that if you have HSP it is unlikely to be the cause of all other issues with your health - HSP may be your main diagnosis, but it will not be the cause of all issues. 

Henry showed a few videos of some of the key features of HSP, starting with a spastic gait and toe-walking. He also showed some tremors, some clonus, and later eye issues and balance issues. With a stiff gait it is often difficult to take a step back to steady ones self, which can lead to balance problems.

HSP falls into two main types - 'pure' and 'complex'/'complicated'. 'Pure' HSP has three main symptoms - stiffness, balance issues and pain. 'Complex' HSP has these main symptoms and other symptoms as well, which can include memory/thinking issues, seizures, deafness, speech issues or neuropathy.

HSP onset can be grouped into four categories, those with onset in early childhood, those with onset before age 20, those with onset after age 20, and sporadic/idiopathic HSP. sporadic/idiopathic HSP usually occurs later and often presents a diagnosis challenge.

A typical person with HSP (and no known family history) would start to develop tripping or scuffing issues in their teens or twenties, with comments sometimes made that they are not so good at sport. Over time they would develop some stiffness and some bladder problems or back problems, and ending up getting a diagnosis in their mid thirties.

Prevalence and Inheritance 

At the moment the prevalence of HSP in the UK is unknown. Henry suggested that it may be around 1 in 10,000, but this is his view rather than a number backed up by data. A prevalence of 1 in 10,000 would suggest there are 6 to 7 thousand with HSP in the UK (the population being some 66 million).

The two main types of inheritance are dominant and recessive inheritance. For types of HSP which inherit dominantly one parent who has HSP has a 50% chance of passing it onto their children. For types of HSP inherit recessively both parents must carry the HSP gene and pass it on to their child for HSP to occur. People with one copy of the gene are unaffected. In the UK dominant types of HSP are more common than recessive types of HSP, but the prevalence of different types of HSP is not known.

With dominant types Spastin or SPG4 is the most common type. Some 25-45% of people with HSP have the Spastin/SPG4 type of HSP. The next most common dominant types are Atlastin/SPG3A (some 7%) and REEP1/SPG31 (a few percent). Symptoms for SPG3A and SPG31 are similar to those of SPG4.

With recessive types Paraplegin/SPG7 is the most common type, with Spatacsin/SPG11 and SPG15 next. Up until relatively recently it was understood that SPG11 was more common than SPG7 in the UK, however there are now known to be more cases of SPG7. UK biobank data indicates than some 1-2% of the population carries an SPG7 mutation. SPG11 and SPG15 usually are more severe than SPG7.

Over time the number of identified HSP genes is increasing, with Henry expecting that a genetic diagnosis will be possible for all people with HSP in the next 10 years or so.

There are examples of people with dominantly inherited HSP where neither parent has an HSP diagnosis. Historically this has often been due to the affected parent dying an earlier age or because older generations have often avoided getting diagnoses for their health conditions, particularly when then would have had to pay for their appointment.

In the clinic

At the neurogenetics clinic around one third of their patients have HSP, and the proportion has been gradually increasing over time.

The initial step is to get a clinical diagnosis. The person would be examined, their family tree examined, and they would have an MRI or CT scan. The family tree is examined because that can help determine the type of HSP (and the mutation) which affects that family. There would be one gene which affects each family, but the overall number of genes increases which can make it more difficult for doctors and healthcare professionals to keep up to date.

An MRI or CT scan is taken to check that nothing else is going on and that there are no other risk factors to worry about. This is to avoid the situation where an individual is labelled as a person with HSP and all subsequent symptoms are blamed on their HSP. In practice they are just as likely to acquire other illnesses as the rest of the population. If you have not had an MRI/CT scan then you should ask for one next time you see your neurologist.

Those who are affected by speech issues or slurring can be at higher risk of chest infections. Some with SPG7 are affected with vision issues, which can affect their driving as they are moving their head more to look in different directions, with consequential neck ache.

A blood sample is taken for DNA analysis. The DNA is extracted from the blood and is sequenced. The analysis looks for differences between the person and others without HSP of for similarities between the person and family members. Some in the clinic also give a skin fibroblast to aid/promote research.

They like to see people in the clinic every year or two. They have found that face-to-face appointments have been better than telephone appointments.

Treatments

There are no treatments at the moment to reverse HSP, and all treatments are around supporting the person with HSP. Key points are:

• Physiotherapy - to help with spasticity
• Baclofen (or Tizanidine or Dantrolene) - to help with spasticity
• Self-catheterisation or Detrusitol - to help with bladder issues
• Use of high walking sticks - to help with balance/posture
• Gait changes can increase wear and tear on hips/knees

There are limits on the use of Baclofen or its alternatives - some people find that these drugs make them very drowsy.

Some people prefer the use of high walking sticks to more conventional walking sticks as they can make someone look "less disabled"

Over time wear and tear on hips/knees may require pain medication and/or joint replacement.

For complex types of HSP other types of medication can be used, for example those that are prescribed for Parkinson's. Baclofen was originally developed for Multiple Sclerosis. 

Future Treatments

There are three main paths for developing future drug treatments:

• Repurposing drugs for other conditions. This can be quicker, but as the drugs were not made for HSP they may not work as well as they could.
• Using gene therapy. This approach is being used successfully in Huntingdon's Disease and SMA (Spinal Muscular Atrophy)
• Undertaking basic research into HSP - but this is slower

In order for drug companies to work in HSP there would need to be a compelling case. These companies are out to make money, and the compelling case can be made easier.

HSP Registry

One way of making it more enticing for companies to work in HSP is to have a registry of people with HSP who are either ready to take part in trials or who have already donated samples which are ready to be used.

The registry would need to know basic details of the person, including which type of HSP they have. In the UK their data would most likely include their NHS number. The registry would know if there are samples of blood/skin/urine/saliva/spinal fluid available. These samples would ultimately be used as biomarkers to allow the benefits of the candidate drug to be measured.

A registry would also have the potential to help consultants in their diagnosis of HSP in new patients and help the management of HSP in all patients.

It would also be possible for the registry to better inform the overall prevalence of HSP and better estimate the prevalence of each of the types of HSP.