Headlines from research papers

There has been quite a bit of excitement from the EuroHSP project, investigating a potential candidate drug for SPG4. This work develops on from work recently partially funded by the HSP Support Group. The drugs target is recovering levels of spastin in people with SPG4. There are more details here: https://www.eurohsp.eu/eurospg4 

I decided I would have a look and see what else I could find which has been going on recently. I found three different studies looking at gene therapy treatment for HSP, and an article summarising the non-pharmacological treatments for HSP.

Non-pharmacological HSP Treatments

This is the type of article I like. A team in Italy present a review of the different non-medicinal treatments for HSP, and I summarise the article in this post. My overall conclusion is that there are not many papers reporting the benefits of the different types of treatment that people with HSP use.

You can read the full article here: Macorra et al: https://link.springer.com/article/10.1007/s10072-023-07200-1

They undertook a literature review of relevant articles, and focussed their review on studies which met certain criteria. 117 papers/studies were identified, of which 39 were selected for a more detailed examination. From these 13 studies were included for the review.

Physical therapy

Most studies were uncontrolled, and did not report details of timings and details of the types of therapy tested. However the following is noted:

One study reported Functional Electrical Stimulation (FES) on 11 people with HSP and 11 controls. The FES was reported to improve toe clearance during walking and speed of walking. https://www.neuromodulationjournal.org/article/S1094-7159(13)60046-X/fulltext

Another study reports robotic gait training used over 6 weeks. Whilst the study did not report a change in spasticity, the participants had an improved quality of life. https://content.iospress.com/articles/neurorehabilitation/nre1196

Nine people with HSP took part in a 10 week hydrotherapy programme. This improved step length and walking speed, and other gait changes. https://www.sciencedirect.com/science/article/abs/pii/S0966636214000290?via%3Dihub

One study showed that warming legs up for 30 minutes could decrease spasticity and a parallel study showed that 30-60 minutes of warming could increase walking speeds. https://www.sciencedirect.com/science/article/pii/S1877065716300380?via%3Dihub and https://www.sciencedirect.com/science/article/pii/S1877065717304530?via%3Dihub.

A small study showed that an 8 week intensive physiotherapy programme saw improvements in all parameters measured. https://www.ijmhr.org/ijpr_articles_vol1_03/320.pdf

Surgery

Four people with severe spasticity underwent selective dorsal rhizotomy (SDR) surgery. After a 2 year follow up there was a good reduction in spasticity. Another study identified similar benefits in 2 children with HSP, but not in 2 people who's HSP diagnosis became ALS. https://www.jocn-journal.com/article/S0967-5868(13)00322-6/fulltext and https://link.springer.com/article/10.1007/s00381-016-3122-2.

Non-invasive stimulation

A range of studies report using transcranial magnetic stimulation to treat different neurological and/or similar conditions, including reducing spasticity in Parkinson's. Other types of stimulation are noted, 

Transcranial magnetic stimulation of the motor cortex is reported for HSP, with 14 people with HSP getting the stimulation over 5 days. Results showed a reduction in spasticity and an improvement in muscle strength. https://www.hindawi.com/journals/np/2019/7638675/ 

Another similar study of 8 people with HSP showed a reduction in spasticity a month after stimulation, but no change in quality of life. https://journals.lww.com/clinicalneurophys/abstract/2023/02000/a_randomized_controlled_trial_of_the_effect_of.13.aspx

A small study looked at transspinal magnetic stimulation in HSP, but didnt assess outcomes on walking speed etc. Another study looked at 15 people, of which 2 had HSP, testing magnetic root stimulation, with some improvement in spasticity. 

Lastly, 11 people with HSP had spinal direct current stimulation for short sessions over 5 days. This showed improvements in spasticity and joint movement. https://www.tandfonline.com/doi/full/10.1080/10790268.2018.1543926. 

Gene Therapy

Gene Therapy for SPG50

In the USA one team are working on a gene therapy treatment for SPG50. Their trial tests this in mice, showing some positive results, and testing the safety in a range of animals. They suggest that this approach could proceed to further trials. SPG50 is a childhood onset type of HSP, with additional symptoms beyond spasticity, making it a 'complex' form. There are two articles in the same journal about this:

Chen, et al: https://www.jci.org/articles/view/164575

Brent and Deng: https://www.jci.org/articles/view/170226 

Gene Therapy for SPG56

Similarly, another team are working on a gene therapy treatment for SPG56. This research appears to be at an earlier stage, as the announcement I saw reported a contract for two parties to collaborate on this. SPG56 is also a childhood onset type of HSP, with additional symptoms beyond spasticity for some.

Report: https://ir.criver.com/news-releases/news-release-details/charles-river-and-genetic-cures-kids-announce-gene-therapy 

You can read more about the wider project here: https://ourmoonsmission.org/

Gene Therapy for SPG61

Finally, another gene therapy target has been identified by a team in Korea. This article reports that the gene ARL6IP1 could be a good gene therapy target for HSP. A quick bit of searching identifies that this gene is associated with SPG61. 

https://rupress.org/jem/article/221/1/e20230367/276392/ARL6IP1-gene-delivery-reduces-neuroinflammation

2023 Blog Data and Health Review

As noted last year, and thereby setting a new trend, the passing of the year means its time to update the pages of this blog, and to take the opportunity to review my health data.

In terms of the blog update, I've updated the four pages as follows:

• Index - easy!
• Survey summary (my on-line research page) - easy!

Blog statistics

There have been fewer sessions on the blog in 2023 compared with previous recent years, about half the number of 2022. The more popular posts are following the general pattern established in recent years, so its unlikely to be any differences in the content that I'm creating. There are several potential reasons for this, and I think its unlikely to be just one.

• Compared with previous years, I didnt plug the results of my 2022 survey when I published it on rare disease day 2023. This means there are likely to be fewer people looking at other pages after looking at that.
• In 2023 Twitter became X, and that might mean that my tweets about each blog post are now seen by fewer people than previously - although on the opposite side, I'm now posting about each post on Facebook as well as X.
• My mental health has been a bit lower in 2023, with a bit less enthusiasm for writing the blog, and feeling that I'm very busy with the rest of life. This may have filtered into my writing style.

Health data (Symptoms timeline page)

The health data for 2023 shows a few interesting patterns:

• My weight has gone up
• My alcohol level has gone up
• My sleep duration is similar to 2022 
• The number of active minutes is lower in 2022 and 2023
• My total number of steps is similar to 2022
• I didnt get on my bike at all during 2023

The consequence of this is for me to be aspirational in 2024 - seeking to get my weight down, and to improve my cardiovascular health. Essentially I need to do more exercise and pay more attention to what I'm eating and drinking.

Taking a broader look at health, earlier this year (as noted in August) I started using a muscle roller to try and help my spasticity a bit. I think my muscles feel a bit less tight, but its difficult to say. However, it is only taking a few minutes at the end of each day, and I'm carrying on with this.

Considering Pilates, I note that there are various movements that I'm finding less easy to do, and I'm having to improvise a few adaptions during classes. Some of these are about making sure that I have a chair/wall/table near where I'm doing my Pilates to allow me to keep my balance more. By having a light touch on something else with my hand I'm able to focus on the movement that we're working on, and not also having to focus on co-ordinating several different element together.

Disclosure

I think that 2024 is going to be the year when I decide that I am now a disabled person, or should that be a person with a disability? On the balance of things, I'm heading towards where the overall balance of impacts are significant, which is the switchover point from "not disabled" to "disabled". It means that I'm going to have to start thinking about the various things I might be entitled to, and to make sure that I'm updating work accordingly.

Review of 2023

Annual Review: 2023

Once again the end of the year is here, and it is time for my usual annual reflection on thoughts and activities throughout the year.

Symptoms

My key word for symptoms for 2023 is mobility. During 2023 I started taking baclofen. I feel like my walking speed is slower, and perhaps part of that is my increased acceptance of how I'm changing - choosing to walk at my own speed rather than other peoples speeds. I have had a couple of comments from people later in the year how my walk seems better. It is too early to say if the improved gait is a result of the baclofen, me walking slower, me being more accepting of this stage of life, some combination, or other factors!

Otherwise, the pattern of recent years has continued - more fatigue, needing to use my arms more, needing to sit down more often, and a bit of depression in the background. I noted last year that the baclofen start point should have been when I started to find things difficult to do rather than just slower. I'm not really sure which changes/factors made me realise that I was at this point.

For 2024 my thoughts are likely to revolve around determining when to start using more visible mobility aids, when to apply for a blue badge, and when to start declaring myself as being disabled.  

This Blog

I'm pleased with the continuing readership of this blog. My audience is similar, and there are similar popular posts. Posts continue to be linked to and used within other HSP and RareDisease communities. Thank you to everyone who reads, including people making comments appreciating what I say. Such feedback reinforces the reasons for writing the blog. During the year I've been also posting details of blog posts on Facebook, which may get a slightly broader audience. 

As noted in last years review, a consequence of depression is less enthusiasm for writing posts. Readers with an eye for detail may note that blog posts have tended to come out near the end of each month.

Survey

Whilst the annual pattern of my surveys is well established, I have not organised one for 2023. I am planning to write a summary paper covering highlights of all ten surveys undertaken 2013-2022 to be ready for rare disease day in 2024. The reason for this is to do with the amount of stuff going on in my life. I hope to be back for a new survey in 2024.

Community Contribution

HSP Community activities for 2023 included:

• Representing the UK at EuroHSP
• Carrying on with the Enable disability network at work
• Involvement with the ED&I group at the Institute of Acoustics
• Conversations/interviews with people about my HSP 
• Analysing and reporting the results of my survey to share with the HSP world

The main element of my community contribution is once again from being chair of the HSP support group, despite my decreased enthusiasm at times. In 2023 we've started having regular trustee meetings (rather than having them in response to activities). The trustees and I are working to ensure that the group continues to support its members in the most appropriate way - please reach out to help us.

Knowledge

My review each year makes a comment about new knowledge gained in the year. Basically I don't feel like I've spent much time looking into new things. I know that the research teams are all progressing with their work, and that might yield some new HSP treatment choices soon.

Outside of the HSP world, I'm continuing to hear second hand, third hand, or social media views expressed on/about disability. I'm reminded that I am in quite a privileged position, and that most of the able-ist views don't affect me directly. It is very easy to see how these views can result in large negative impacts on people, and it's a positive for me to have my weird stubbornness/optimism blend!

New Shoes

2023 marks the first year with two new shoe posts! - Although the post in February was reporting a show swap over in December 2022. This firmly marks me as having a pair of shoes lasting about one year.

I swapped to a new pair in November 2023, which more-or-less is a year after the previous replacement. The replacement shoes for (early) 2024 are different - I have gone this time with Mountain Warehouse Outdoor Walking Shoes, and the principal reason for change is price. These new ones were available for about half the price of the previous ones

The main change during 2023 is that I started taking Baclofen in the middle of the year.

I note that my left shoe (which is on the right of the photo) is worn the most, which is common with other years. The right shoe is worn much less, and there are several possible reasons for this:

• The difference is due to the Baclofen, making my gait a little easier
• I'm walking a bit slower, and therefore my precision is better.

I suspect that my mobility aid use will start/change a lot in 2024, and we'll have to see if that makes 2023 peak shoe wear.

Lining up all these different photos in order shoes the similarities and differences in the wear. 

2023 AGM: Compassion Therapy

My other November post covers the second of the two September presentations made for the support groups AGM. Hannah Gilbert talked about compassion therapy, and how these approaches could help people with HSP. This is also available on YouTube, should you wish to watch.

https://www.youtube.com/watch?v=3X5recS_guY 

Compassion and Compassion Therapy

Hannah started off with an introduction of compassion, describing it as the motivation to address suffering. The key steps in this approach are:

• The first step is recognising that suffering happens
• Suffering can be experienced by anybody, for many reasons - it has a universal characteristic
• Compassion involves having sympathy and/or empathy for suffering
• Distress from suffering happens, and this needs to be tolerated
• Essentially compassionate behaviour is motivation to act to alleviate the distress and suffering

Compassion focussed therapy boils down to two key elements - you need to understand situations, and approach or engage with that suffering - requiring courage. Then you need to work towards alleviating that suffering - requiring dedication and wisdom.

Over thousands of year humans have evolved to have a sensitive system which allows us to notice suffering in in our environment, and to respond to that. These responses are our minds organising themselves to change our behaviours to address the suffering. Compassion therapy is about developing these qualities.

All mammals care for their young, and that care increases the chance of survival for the young. Bodies are equipped with nerves, and endorphins (etc) are produced in response to situations which change behaviours. Humans are different from other animals as we are sentient and are aware of situations from the perspective of others. We know that there is a difference between pain/suffering and our reactions to that pain/suffering. Compassion can help address both sides of this.

It is not your fault

Many people carry a lot of shame/guilt/disappointment about the situation they are in. But, a lot of what we experience is not our fault. We do not choose the bodies we live in, we do not choose what we have inherited from our family, and we do not choose much of the environment that we develop and live in.

Also, the society that we live in has particular societal norms. In the age of social media many of the portrayals of the social norms are not real. We can often find ourselves not matching these norms, and that can lead to a sense of shame or loss of dignity.

If you are in this situation it may be beneficial to take a step back and look at the bigger picture. You should not blame yourself for things out of your control. When looking at the bigger picture, it is important to realise that not all things can be fixed. The trick is to focus on what can be done.

Emotions and their regulation

There are three basic systems in the body for emotions and their regulation.

Most obviously, we are very good at responding the threats. The responses of anxiety or anger are automatic to threats, and these are us seeking safety or protection. Of course, society has changed a lot since these responses evolved - we are currently less likely to be the prey of a carnivore!

The next system is our drive system. This is about finding resources, wanting and pursuing things. Similar to the threat system, our responses are around taking action to doing more.

The third system is the soothing system. This system regulates the other two systems, and involves things like resting and digesting resulting in feeling safe. Associated with this is kindness, which you can get either from others or from yourself.

In theory these three systems should balance out each other. However, the threat system can dominate over the other two such that they only play a negligible role. Staying in the threat zone can lead to disappointment dominating other feelings. It is important to note that ways of thinking can keep people in this threat zone even after the triggering threat has subsided. One solution to this is to try to access the soothing system.

Difficult Emotions

There are three emotions that can be particularly difficult to deal with - Anger, Anxiety and Sadness. However, the responses to each are similar, and it can be helpful to think about how you respond when you experience these emotions, and these thoughts can be developed into a motivation to reduce them. The initial thoughts are probably not very helpful.

• Where is your attention focussed when you experience these?
• What are you thinking about when you experience these?
• What is your body doing?
• What actions do you want to take?
• Which memories are you thinking about?

These lead onto the final question to think about - what helps you to settle? The aim is not to push the feelings away, but to consider what would help you to settle.

If you experience these emotions a lot it can lead to long term negative thoughts, including avoidance and denial.

Using Compassion

As noted, motives help organise the mind into action, and compassion is encouraging car based motives. The two key elements are:

• Using the body to support the mind - this could be through meditation, mindfulness, breathing, diet, exercise, and so on.
• Choosing a quality to develop - this could be around learning, playfulness, joy, friendliness, having positive thoughts, having helpful behaviours, and so on.

Self compassion is like a muscle, the more that you practice it, the stronger and more resilient the behaviours become. Begin by thinking - how can I be helpful to myself.

2023 AGM - Choosing Mobility Aids

I realise that this post is somewhat later than previous years. There's been a lot going on. One of the presentations given at our AGM this year was "Mobility Aids - Getting it right can be life changing!", presented by Ian Bennett. Ian is one of our group members, and was chair before me. He has plenty of experience talking to people about their mobility and mobility aids, and we took the chance to ask him to present his thoughts on this.

You can watch this here: https://www.youtube.com/watch?v=0MhAzE5SMCI

Ian started out giving his background and context for talking to the group. Ian is a firm believer in the "use it or lose it" camp with mobility. The start point of his talk is not that everyone should get a wheelchair, but that people should make the right choices for their situation. He notes that for people who are recently diagnosed the information in his talk is there for awareness and planning for future needs.

Over the years Ian has noted that there are plenty of people who have pride or fear which prevents them from starting their journey with mobility aids. This psychological side can be powerful given frequent societal negatives around wheelchair use. His important comment is that on the whole once people begin their journeys with aids they frequently say "I wish I'd done this years ago". As mobility changes with HSP it can feel difficult to get outside, which Ian notes is not very good for peoples mental health. Getting out and about can be lifechanging.

FES

The first aid covered was FES, or functional electrical stimulation. This uses pads placed on your legs and electric charges are sent to the pads to stimulate the muscles. Stimulating the muscles with FES can reduce foot drop or feet dragging on the ground, and can improve the amount that knees are bought up. Ian noted that when he used FES it was able to make his walking easier, and allowed him to extend his range. Many people get on OK with FES. There are a small group of people who dont get on with it, and a similar small group for whom it works brilliantly. If you are offered this, it is worth a try.

Walking Sticks

There are many different types of walking sticks to choose from, and you can find one which matches your personality/character - seek out the shape, size, material and colour which you like. You can feel more positive about sticks if you like what you're going to use. Another point mentioned was ferrules. The ferrule is the "foot" at the bottom of the stick which makes contact with the ground. Ian noted that many with HSP like Flexyfoot ferrules, which help improve grip and are versatile over many types of ground.

People wonder if they should use one stick or two. If you are becoming more reliant on your sticks, it might be better to use two sticks. Staking with one stick can lead to problems if you're transferring weight more onto one side of the body.

Which Order?

There is no 'correct' order for mobility aids. Different people use different aids at different times. Many people start with sticks and then progress onto other aids. Some people will use rollators, and some people will use chairs/scooters. The choice of aid will also depend on the circumstances - what you're trying to do and where you are doing that.

Rollators

A rollator is a frame on wheels which allows you to help keep your balance. They generally come in three or four wheel versions. The three wheel versions have a central front wheel, whereas the four wheel versions have a pair of wheels each side. Many rollators come with a seat which can help with fatigue or tiredness.

Aother factor worth considering is the positioning of the wheels relative to where you walk. Some rollators are always in front of you, whereas the rear wheels extend behind you in other types. The choice of numbers and positioning of wheels can affect your stability whilst using these, and it is important to think about what you're using the rollator for.

Mobility Scooters

Choosing to get a mobility scooter can be a big decision. Getting the correct choice can make a big positive benefit to you. It is important to research what you need your scooter for before you decide. Common types are:

• Small folding scooter - can be used indoors or while travelling, but the smaller battery can limit the range. Can be folded up and put in a car.
• Pavement scooter - can be used for shopping or walks. Can be disassembled, and lifted/hoisted into a car.
• Road legal scooter - can be used on roads (up to 8mph) or pavements (up to 4mph), with a potential range up to 30 miles. These cannot be put in a car, and a heavy.

It is important to maintain the battery on scooters, so regular use is best, and regular charging is needed in you are not using the scooter regularly. 

Wheelchairs

When you are getting a wheelchair, the first step is similar to that for mobility scooters - you should determine your needs. Once you know your needs the choice of a chair becomes more straightforward. Thoughts on needs should cover:

• What activities you want to do when using the chair
• How often/how long do you think you will use the chair for
• Will you be using the chair indoors or outdoors
• Do you have any other physical limitations which you will need to take into account
• Will you be using the chair independently or with assistance

The answers to these questions will help decide the type that will suit to best. These questions can help you make reasoned decisions on things like the turning circle of the chair, the seat height, and the size and type of the wheels/tyres.

There are four basic types of chair available:

• Transit chair: this is pushed by another person, and is often used indoors for short term use
• Manual chair: can be independently used or pushed by another, and often fold flat for storage/transport
• Active chair: similar to manual, but with a rigid frame instead of folding. More manoeuvrable than manual chairs
• Power chair: has battery electric motor controlled by a joystick. Easier to manoeuvre and possibly more comfortable.

You will need to get a chair which is the right size and right fit for you. You can also consider accessories at the same time, things like the type of cushion, anti-tipping devices, trays and bag holders. Getting the right chair can help you live life to the fullest.

For many manual/active chairs you could also get a powered add-on drive. This is an electrically powered front wheel which clips on the front of the chair, raising the castors off the ground. The powered wheel can greatly increase range and the level of fun. There are other products which are like a cross between a power chair and a mobility scooter, meaning there are various ways of bridging the gap between these two.

Positivity

Fight the fear. Fight the pride. Dont let the fear of mobility aids prevent you from living your life to the fullest.

Clinic Visit (by telephone)

The other week I had my now-annual clinic appointment in London at the National Hospital for Neurology and Neurosurgery. This was a telephone appointment, so I didnt actually go to London.

I had three questions which I wanted to ask about this year.

Baclofen

At my previous appointment we had talked about baclofen, and as I noted earlier this year I have now started taking this. I was asked if it was making me drowsy. Now, I have been noticing that I've been feeling more tired recently, but I had attributed this to not getting enough sleep, and needing to take more effort to move about. It means that there is another factor which I need to bring into this consideration mix. I reported that I am on 10mg per day, and that I have noticed a difference in some of my stretches, with them becoming less difficult to do.

The question I asked was around trigger points for increasing the dose. The answer was that there are no specific triggers for increasing the dose. It was observed that some people take a dose just before bedtime to reduce spasms and similar in the night. We talked around when I take my dose, which is first thing in the morning, and it was noted that it was beneficial to take the dose before stretches. This is just coincidence, but that happens to be the way that my morning works.

It was noted to me that some people schedule an afternoon nap into their day. I need to reflect on this and see if thats likely to be part of my future routine. I feel this has the potential to be an interesting conversation around reasonable adjustments, particularly for days when I'm in the office.

Talking Therapy

I have recently been finding several aspects of life quite tough. One of these is the increasing realisation of my future self with my reducing mobility. I asked if there were any specific types of talking therapy which they would recommend for people with HSP. The general advice was no - it was commented that CBT (cognitive behavioural therapy) can be useful for some, and counselling with someone who is not a medical person can allow a free-er conversation because it is not 'just' focussing on the medical aspects of HSP.

Occupational Therapy

My third question was around when might be a good time to see an occupational therapist. Occupational therapists are arranged through your GP, and that is the route to access. The suggestion was that it might be worth getting a home visit from an occupational therapist so that they can see what you struggle with, and for this to be done sooner rather than later. It might be that the occupational therapist doesn't recommend any changes to start with, but you'd at least be on the radar.

For me, I've most likely got a house move coming up soon, so this is something to consider after I am settled in my new house.

2023 - No survey questions this year

Hello readers.

I have found myself relatively busy in the last few months, and I realise that I have run out of time to plan, organise and translate my usual annual survey for this year. Therefore, I've made the decision not to run a survey this year.

Instead, I will collate a summary of all 10 previous surveys together and publish that on rare disease day next year. I will be able to highlight the key themes and findings over all surveys and draw some attention to aspects changing between years for some people.

With any luck, by the time I get to the summer of 2024 I will be less busy and able to run another survey with questions.

As an aside, This somewhat messes up my pattern of surveys, as I was planning to repeat some of my first questions (from the 2013 survey), but there we go - I will just have to accept that its not going to work like that.

Whilst you are here, have a look at the EuroHSP project: https://www.eurohsp.eu/eurospg4  - They are seeking donations for this project. Use the Donate option at the top of the screen.

Mobility and Driving

I had a couple of interesting conversations recently with people who were observing me walking, making the observation that I could consider getting a blue badge. (For non UK-readers, a blue badge is a badge which allows you to legitimately park in disabled parking spaces, on some types of road where there are parking restrictions, and frequently gives you free or reduced price parking charges in car parks).

I know that I will need one of these in the future, and I considered that I dont need one right away. However, I also realise that I might be being stubborn, so I investigated the criteria for eligibility in case my stubbornness was getting in the way.

There are two levels of eligibility, a higher level will let you have one without seeking any further information, and a lower level where they will consider the application that you put forward. These are set out here: https://www.gov.uk/government/publications/blue-badge-can-i-get-one/can-i-get-a-blue-badge

I do not meet the criteria for the higher level because I am not on benefits, I am not severely sight impaired, and I have not been in the armed forces.

When considering the lower level, the closest two factors are:

• "you cannot walk without help from someone else or using mobility aids"
• "you find walking very difficult due to pain, breathlessness or the time it takes".

None of the others are relevant (at least not at the moment). I realise that insoles are a mobility aid, but it feels like I dont really meet the first of these yet, so it is more around the second one now.

These badges are issued through the local authority, so I went to see the process at my local authority. Within this, I would be in the category "Subject to further assessment: applicants with walking difficulties".

The bar is set quite high with the initial statement in this section of the form "Please note that you will only qualify for a Blue Badge under this criterion if you have an enduring (lasting for at least three years) and substantial disability which means you are unable to walk; have very considerable difficulty in walking; or are at risk of serious harm when walking."

So, HSP is enduring, but I can still walk, and I dont regard my difficulty as being considerable. I am not yet at the risk of serious harm.

After several describe your situation questions, there is a multiple choice question on the way that you walk, and I'm probably adequate at the moment. Then they ask a few "can you do this" questions, and then questions on breathlessness, pain, and balance/coordination. My mobility doesnt yet substantially tick any of these areas. 

The next questions are about mobility aids, the distance you can walk without stopping, if you can carry on after a short rest, and what sort of distance you cover in a given time. On these questions I have impact, as I'm needing to pause for a short rest every few minutes, and my distance is limited.

On reflection, I think I'm more likely to get a badge when I get to the point when I'm needing to use sticks/poles/crutches on a regular basis, which essentially means when my balance deteriorates a bit further.

Overall though, the big thing for me is the mental space for thinking about this. Applying for a blue badge is an open admission that my mobility is getting poor, and I'm not sure that I'm quite ready to do that yet. It has been said that even if I get a badge, I dont have to use it every time. Whilst this is true I will know that I have it. This is ultimately tied up with the negative societal prejudices around disability, and my reluctance to have such an obvious badge. And, yes I know that this is irrational, because the badge will soon be appropriate, and useful, and I think I'm probably already making different journey choices because of my mobility. So, its just me catching up with myself.

EuroHSP meeting in Innsbruck

At the weekend I had the pleasure to attend a EuroHSP meeting in Innsbruck. I was there with my HSP Support Group hat on, along with similar people from other European HSP groups.

I had met several people at the previous EuroHSP meeting in Vienna in 2019, and the Spatax meeting in Nice in 2019. It was also good to meet some new people as well.

It was a one day meeting. In the morning we had a bit of an update on the recently started SPG4 project which the group is running. Headlines of this project can be found on the newly updated EuroHSP website: https://www.eurohsp.eu/eurospg4. The project is looking at a potential drug route to increase the levels of spastin in cells of people with SPG4. 

There was also a great discussion about the role of the various groups. In summary the groups are there to be the voices for people with HSP. Our voices and actions help people feel less isolated, and it doesnt matter if we talk and nobody replies - the fact we are talking and people are listening is the important part. We agreed that we need to better at using our voices, and we need to find places where younger people might be listening.

The observation was made that funding is difficult - there are many projects seeking money from a limited number of sources. The observation was made that "basic science" turns money in knowledge, and then "applied science" turns the knowledge back into money. Solutions require both basic science and applied science.

In the afternoon we had two presentations from researchers. The first presentation was by Cinzia Rinaldo, and was very similar to the one she gave to the HSP Support Group earlier in the summer. I wrote about that here: https://hspjourney.blogspot.com/2023/08/2023-agm-spastin-recovery-in-hsp.html

The second presentation was by Matthias Amprosi. He is working in Innsbruck on HSP. Much of his work is on developing patient reported outcomes which can be used by clinicians and/or other HSP researchers to assess how well treatment approaches work. He has authored a paper which I need to look at in more detail in the future: Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9832334/. Essentially, some aspects of HSP are not captured completely in some of the clinical scales used, which makes it more challenging to measure the effectiveness of treatments and/or the progression of HSP over time.

He also noted that HSP has potential to affect the autonomic nervous system in addition to the somatic nervous system. The somatic nervous system controls our voluntary movements, and as many know control of leg movements becomes more difficult as our nerves degrade. The autonomic nervous system controls the involuntary processes, like heart rate, breathing and digestion. With some of the complex types of HSP autonomic systems are affected, and it was very interesting to hear the nervous system classified in this way.

There are more things for me to explore and write about in the future.