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.

Symptoms update - Baclofen

I have now started my journey with baclofen.

When I visited the HSP clinic at the National Hospital for Neurology and Neurosurgery last year we talked about when it would be appropriate to start taking baclofen. The discussion concluded that it should be when I start finding things really difficult.

I realise that "really difficult" is a very subjective term, but in the last few months I've been finding that my calf muscles stay tight a lot of the time, that some movements are becoming more difficult (including some stretches), its getting a bit harder to put my socks on and trim my toenails, and I'm getting a little discomfort in my legs. I decided that these things added up to being "quite difficult", so I thought it was time to start my baclofen journey.

The letter from the hospital suggested starting on 5mg every other day, and my conversation with my GP talked about titrating that dose up to 10mg per day, via 5mg every day. I spent just over a week on 5mg every other day, and a similar time on 5mg every day, before moving to 10mg per day. I have now been taking that for a few weeks.

I am taking my 10mg in the morning. This means that I am now on three regular medications - baclofen and oxybutynin in the morning, and oxybutynin and citalopram in the evening.

I had heard that many people get unpleasant side effects from baclofen. I am pleased to report that I dont seem to have any of those.

So, the key question is - am I noticing any difference? - I think that the answer is yes. Those stretches which were becoming more difficult are now more or less back to where they were. This means that I can still feel each stretch, and they are doing the same tasks, but the additional discomfort has gone. I've not really noticed any other differences.

I'm going to keep at 10mg per day until my clinic appointment in October where we can review this.

However, I have also made one other change at the same time. I purchased a foam muscle roller, and I use this every evening to give my calf muscles a bit of movement. This gets the muscles moving, increase my mobility and helps release some of the spasticity built up over the day. So, it is not clear whether it is the foam roller or the baclofen which is helping most. 

My foam roller looks like this - it is 45cm long and 15cm in diameter.

 

2023 AGM - Spastin recovery in HSP

On Saturday July 22nd Cinzia Rinaldo gave a presentation to the group about the work that her research group has been doing in Italy. The HSP Support Group part-funded this research, and the presentation was to inform members about their new findings.

She outlined the different people involved in her laboratory and their partners/collaborators. There have been two different aspects of the project, which focuses on the SPG4 type of HSP, where the genetic mutation is in the Spastin gene. Where spastin is affected by HSP its effectiveness is reduced, and therefore it is unable to do its job within cells as well.

• Firstly, they are seeking to increase the levels of Spastin by reducing its degradation. They note that this is a possible therapeutic approach for HSP. They have been testing the drug MLN4924.
• Secondly they are trying to identify biomarkers for SPG4 to make it easier to detect when drugs are working.

Spastins job within the cells is to cut microtubules. Most people affected by SPG4 have one copy of spastic which functions properly, and one copy which does not. Therefore, the microtubule cutting is not done as effectively in those with SPG4. The approach for the study is to target recovering the level of spastin in the cells to allow it function better.

Their study seeks to answer three questions;

• How are the levels of spastin regulated within the cell?
• How can the levels be increased?
• How can the recovery of spastin levels be detected?

Regulation 

They identified a pathway which regulates spastin, and this pathway can be modified by drugs. There is an inhibitor which can be used to block the degradation of spastin within the cell. Their research also explored all of the different factors which can elevate the levels of spastin, allowing other pathways to be identified in the future.

The drug MLN4924 is currently being trialled as a cancer treatement, and has been demonstrated to block the degradation of spastin in cells. They are hoping to re-purpose the drug for use in HSP.

Increasing levels

They have been testing MLN4924 using animal models of HSP. With the HSP mouse, this doesn't usually have any copies of spastin. When the mouse has one copy of spastin the HSP effects are small and occur late in its life. A mouse with no spastin is not a good choice to test methods to recover spastin.

However, the fruit fly model of HSP has spastin, and it is easy to detect the changes in the fly as a result of changes in spastin. Cinzia showed photos of fruit flies, an un affected one, one with the spastin mutation, and one with both spastin mutation and the treatment. They demonstrated that the levels of spastin are recovered using the treatment.

Detecting change

The team have developed a non-invasive cell imaging method to be able to detect the effects of spastin (or lack of) in blood cells. The team can use the imaging to identify both cells which are affected by lack of spastin, and the effects of the drug being trialled.

This work has been published: https://onlinelibrary.wiley.com/doi/10.1111/ene.15756 

Next Steps

She concluded by describing the next steps for their team.

The want to extend their cohort of people affected by HSP to be able to consolidate their biomarker results and potentially develop more.

They are going to investigate the spastin elevating drugs and their impacts on cells

The want to develop prognostic and predictive methods for tracking spastin in non-neural cells.

2023 AGM - Diagnostic Odyssey

On Saturday July 22nd Ela Curic gave a presentation to the group about her student voice essay.

Ela began by introducing herself, she is a 5th year medical student in Sydney, Australia, who has included rare diseases and genomic testing in her studies. She entered the Beacon (formerly findacure) and Medics 4 rare diseases student voice competition. Ela's essay was shortlisted in the 2022 competition.

She chose to answer the question on the diagnostic odyssey by comparing and contrasting two different people/rare conditions, and looking at the wellbeing impacts of the diagnosis journey. Ela interviewed me about HSP and Laura, who has Bethlem Myopathy. Ela gave a brief overview of HSP and Bethlem Myopathy, noting that HSP has a prevalence of about 3.6 in 10,000 and Bethlem Myopathy of 0.77 per 10,000. There are about five times as many people with HSP than Bethlem Myopathy.

Rare diseases, by definition, affect less than 5 in 10,000 people. But, there are many rare diseases, meaning they affect around 1 in 16 people, or about 300 million people around the world. Many of these conditions have a genetic basis, and getting a diagnosis can improve the pathway to managing the condition.

The challenge for many is that they cannot get a diagnosis easily, they go through a series of different appointments where they have to explain their situation again, without getting a clear answer. This affects their mental wellbeing.

Overall the diagnosis often takes over five years. The traditional approach for diagnosis is the doctor recognising common symptoms and using their knowledge to identify what has happened. For rare conditions this approach cannot work, leading to a succession of disjointed appointments without progress.

 Ela then went on to consider three different aspects of the diagnosis journey:

Navigation

Often there is no clear route for diagnosis of a rare disease. People often visit 8 different clinics, 4 with their doctor/general practitioner, and 4 with specialists of one kind or another. Given that rare conditions are not well known it is common for people to start with a misdiagnosis, and in that typical journey, there are 3 different misdiagnoses.

For people whose condition affects their mobility they have the added burden of travel between these different clinics, which can be difficult at times. All of these factors - many clinics, misdiagnosis and mobility challenges have negative effects on wellbeing.

However, once a diagnosis is reached there are positive effects. A correct diagnosis means that treatment options, exercises and other measures are done in the knowledge that they are the right things to do, and the diagnosis can open up access to different benefits and services.

Uncertainty 

Rare conditions have additional uncertainties above commonly experienced conditions. Once a diagnosis is reached this can help re-frame the different symptoms and experiences that people have experienced, allowing them to realise reasons why they have felt different.

Diagnosis can also reduce the uncertainty of the future, by being more certain about what is coming in the future, and allowing people to plan for this. Some people will be able to use this in the context of reproductive issues to help them make decisions about having children. Others will use this when deciding on treatments and assessing their progression, although this is often difficult to do and there will still be some uncertainty here.

People with rare conditions often have a lower health related quality of life, and some of this is due to  uncertainty which is independent of their diagnosis.

Connection 

Before people get a diagnosis they often feel disconnected from their usual lives. Getting a diagnosis offers an avenue for them to connect with other people. Connections with people is important. For conditions with support groups, this can be one route to connect with others that are similarly affected. There are also groups of people who do not yet have a diagnosis, which gives another route.

Psychological support during the diagnosis journey, and beyond, is beneficial to all.

What does this all mean?

Ela concluded her essay considering the experiences of the people she interviewed. The role of the diagnosis is not always clear, with different people drawing different aspects from this. The main aspect is that having a diagnosis can help people to understand the impacts of the condition on their lives. For some people the diagnosis helps plan the future, but it is important to realise that many rare conditions do not have treatment options available.

Also, the diagnosis offers routes to connections with others. All of these factors are helpful to peoples wellbeing.

   

 

HSP Support Group 2023 AGM

On Saturday this weekend it was the UK HSP Support Group AGM.

We had taken the decision to keep the AGM virtual to allow as many of our members to take part as possible, and we had up to around 50 people on the call, which was great.

The AGM is loaded onto YouTube so that anyone can watch it: https://www.youtube.com/watch?v=tWFA_-gq1Yw 

The usual agenda was followed. 

• We had updates on the research being carried out at Exeter and Sheffield
• We heard about the amazing fundraising that our members are doing for us
• We heard about the upcoming Potato Pants festival
• We presented our fundraising award
• We presented our raising awareness award
• Our reports were approved
• Our trustees were elected
• We saw the transition to a new treasurer
• We announced our upcoming series of summer presentations

Links mentioned in the AGM:

• The group website: https://hspgroup.org/ 
• EasyFundRaising: https://www.easyfundraising.org.uk/causes/hspsupportgroup/
• Donations: https://www.justgiving.com/hspgroup
• Help the group here: https://hspgroup.org/want-to-be-able-to-help-the-group/
• Potato Pants festival: http://potatopantsfestival.co.uk/
• Potato Pants on facebook: https://www.facebook.com/PotatoPantsFestival/

Some of our current fundraisers - please donate if you can:

• Jasons Everest base camp trek: https://www.justgiving.com/page/jasonmain
• Emmas dog sledding challenge: https://www.justgiving.com/fundraising/emmasarcticadventure
• Nicks running events: https://www.justgiving.com/fundraising/nick-garrett2

I came to the end of my three year term this year, so I was up for re-election. I decided to stand again and to carry on in my role as Chair of the group. All of the trustees who were up for election were elected, including two new ones. This is good as it means that we're getting some new ideas bought into the group.

This year we were joined by a few of our honorary members, which was lovely to see. After the AGM there was also some lovely conversations between members, which always reminds me that our supportive community is the most important part of the group. Of our honorary members we heard from Marina, who leads the Italian HSP group and Hande Ozdinler from the USA. It was good to hear what they had to say. 

The burden of disability

This post is a little different from my usual ones, and is a cross-over between HSP and my work.

As part of the staff network for people with disabilities and health conditions, I had the opportunity to visit Heathrow with a few colleagues and experience some of Heathrow's accessibility issues. We were invited to take part in an exercise where each of my colleagues were kitted out with props/tools to simulate a disability or health condition. We were split into groups and set various tasks around the airport.

The tasks were basically to give each person a chance to experience something approaching how people with disabilities experience navigating around airports. Each group was accompanied by someone from Heathrow who was observing what happened to us, both from a safety point of view, and from a note-taking point of view. The group I was in were set various navigation tasks, getting from one place to another, including getting through security.

The tools/props that were used included: a sling, to simulate a broken arm, a pair of gloves to simulate arthritis, foot and neck weights and a knee brace to simulate joint movement difficulties, various glasses to simulate cataracts and other vision impairments, and some earphones playing different sounds to simulate neurodiversity. I went with my AFO and my walking poles being my usual HSP self.

This was the first time that I'd worn/used these in a work context, and I was also seeing if any of my colleagues treated me differently with my aids 'on show'. They didnt, which was good, although one colleague did ask if I wore my AFO all the time whilst I was out of the room.

Going round the airport was a good experience for me. There were no problems getting through security, although my AFO (and shoe) had to through the scanner separately, which was all done very well. I dont usually use my poles, so they were no problem going through the scanner either. I had good conversations with the other people I was going round the airport with. We came unstuck once. Our challenge was to get to one of the gates which the sign said was a 15 minute walk away. We decided to try and get a ride there by visiting the accessibility point, but as we didnt have boarding passes we couldnt access that. There appeared to be quite a few people waiting for that service, so I think that this would have taken quite some time if we had managed to use it.

Once we got back to the Heathrow offices, all of my colleagues who had been using the tools/props said that they had found the experience exhausting. It didnt matter which of the tools/props they had been using, they all had found it hard work. This emphasises for me quite clearly the extra mental and physical burden that disabilities and health conditions can have on mobility.

I realise, of course, that if you've lived with something for a while you get used to it, and that probably makes the impact smaller than if you're immersed fully into the experience for the first time - your brain has done all the learning, and your body is used to the physical differences. I can also see that different conditions, which affect different parts of the body have very different consequences. My colleagues wanted to be able to get round the airport independently, and I think the realisation that this isnt as easy as you might think is a huge learning piece.

I also realise that by comparison my experience was a "walk in the park" - using a potentially able-ist phrase! I was just going about as I normally would. My walking speed is lower, and that meant that I was the person setting the pace around the airport. Having my walking poles out made that feel less unusual, because the poles are a visual cue to others that walking is a problem. Otherwise, there wasnt really any difficulty for me. I realise that actually, my mobility changes do have an effect on me, and I know that it does take me more effort to move and do things than it used to. The challenge with a slowly progressive condition is that its hard to see the change.

I'm not sure when I'll start to use the AFO and poles more often. It might be the poles which come out sooner than the AFO, just for the visual conformation that I'm moving differently from everyone else. I dont yet need them for balance, which is a possible future symptom. I am convinced that the AFO doesnt do much for me, and I put that down to regularly doing my stretches and keeping my flexibility in my leg. I could do an experiment next time I get a new pair of shoes to see if the wear on each were different, but thats an experiment of several months, which I dont feel I have the time for at the moment!

  

Reflections on dating apps

Here are a few thoughts on my initial encounters on dating apps.

When I first set my profile up I didnt mention HSP or any of its effects directly, although I did mention that I am the chair of a rare disease charity. A few on-line conversations led to meeting up for a 'real' date. After those dates, however, two things happened - I was either ghosted, or the on-line conversations dried up pretty quickly.

Without any supporting evidence, I cannot tell if any of that is to do with my HSP and my 'funny' walk, or if there were some other reason for things not going any further with most of these people.

The conversation I had with the first person I met up with was interesting. They said that I ought to consider being more explicit about things on my profile. This gives people a chance to make up their minds without me having to make such an emotional investment - i.e. there isn't any benefit to me in getting involved with anyone who is going to walk away awkwardly at the first signs of anything unusual.

It took a few months for this thought, and conversations with other people to result in me updating my profile. I chose to make two changes. In one change I went self-deprecating, and declared my walk to be like my sense of humour - both 'a bit funny'. In the other change I chose to reveal my vulnerabilities, by saying that I'm nervous about becoming a disabled person of the future.

This change was good. Conversations have been better, and have not dried up after a first real date. I feel like I'm more able to be myself, and this reminds me that my HSP is only a relatively small part of me (even if it feels like it takes over my life from time to time).

(Readers may not know what ghosting is - it is abruptly ending communication with someone without explanation - Wikipedia says: https://en.wikipedia.org/wiki/Ghosting_(behavior))

The path to benefits

I was having a conversation the other day about potentially needing benefits in the future. I had a quick look into the UK Personal Independence Payment (PIP) benefits. There are two elements to this benefit, and I have looked at each element, and thought about how my HSP progression will change in the context of scoring points for this benefit.

Right now I score zero points, so I am quite a way off these benefits. I have looked at this wearing three different perspectives

• a 'near future' perspective (by which I mean the next 5-10 years), 
• a 'far future - positive' perspective where I assume that I'm going to be able to manage my HSP pretty independently, and 
• a 'far future - negative' perspective where I assume that I'm going to need assistance of one kind or another to do things. 

People are eligible for standard rate benefits when they get to 8 points, and there is an enhanced/ increased rate when people get to 12 points.

For the daily activity aspect:

Activity	Comments	Near future
Washing & Bathing	Aids for showering - feet	2
Toilet needs	Self catheter in future	2
Dressing/undressing	Aids for socks/shoes	2
Verbal communication	Hearing aid expected	0
Preparing food	Possible aid/appliance in future	0
Managing therapy	Possible aid use in future	0
Taking nutrition	Aids not expected	0
Reading & understanding	Cognitive effects not expected	0
Engaging with others	Cognitive effects not expected	0
Budget decisions	Cognitive effects not expected	0
Total		6

This shows that I do not expect to be eligible for this benefit in the near future. Should I need a hearing aid or adaptions in the kitchen to prepare meals, then that would make me eligible for this benefit.

For the mobility element:

Activity	Comments	Near future
Moving around	Distance > 200m	0
Planning/following	Cognitive effects not expected	0

I dont expect this to trigger in the near future as I will be able to use mobility aids to move more than 200m.

When looking at the far future, with a positive perspective I think:

Activity	Comments	Far future - positive
Washing & Bathing	Wet room	3
Toilet needs	Supervision	2
Dressing/undressing	Assistance lower body	2
Verbal communication	Hearing aid	2
Preparing food	Kitchen adaptions	2
Managing therapy	Physio etc.	1
Taking nutrition	Aids not expected	0
Reading & understanding	Cognitive effects not expected	0
Engaging with others	Cognitive effects not expected	0
Budget decisions	Cognitive effects not expected	0
Total		12

Activity	Comments	Far future - positive
Moving around	Move more than 50m	4
Planning/following	Cognitive effects not expected	0

In this perspective, I easily meet the standard rate benefit for daily living, and am on the threshold for the enhanced rate. There are still low points in the mobility element as wheelchairs/mobility scooters are not counted. I assume that I am still able to walk between 50 and 200m using sticks and/or a walking frame.

When looking at the far future, with a negative perspective I think:

Activity	Comments	Far future - negative
Washing & Bathing	Assistance	4
Toilet needs	Assistance both bladder & bowel	8
Dressing/undressing	Assistance upper body	4
Verbal communication	Hearing aid	2
Preparing food	Kitchen adaptions	2
Managing therapy	Physio etc.	1
Taking nutrition	Aids not expected	0
Reading & understanding	Cognitive effects not expected	0
Engaging with others	Cognitive effects not expected	0
Budget decisions	Cognitive effects not expected	0
Total		21

Activity	Comments	Far future - negative
Moving around	Unable to stand	12
Planning/following	Cognitive effects not expected	0

This shows that I would easily be entitled to the enhanced rate for daily activities, and an inability to stand would make me eligible for the enhanced rate for mobility.

Conclusion - quite some time to go before I think about this benefit - and I'm hoping that changes happen slowly.

Readers should note that I've not really done any research into what counts and doesnt count (aside from noting that wheelchairs dont count as a mobility aid) so this is very much an instinctive view rather than a researched view.