Review of 2024

 Annual Review: 2024

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

During 2024 I've moved on a little further from 2023. I used the start of baclofen (after some delay) as a reason to go back and see the Physiotherapist. I am now using walking poles most of the time, and I have a different set of stretches to do. Just to note, the stretches are working on the same muscles, they are simply dynamic stretches instead of passive ones.

I also re-visited the Orthotist, and how have two night splits and new insoles. My HSP is also far enough for my Local Authority to consider me disabled enough to qualify for easier car parking - i.e. I have a blue badge.

Looking at my notes this time last year, my walking speed remains slow. I might also be experiencing fatigue more rapidly, most noticable when walking, but that's something to consider in 2025. I will also be noting if the use of poles changes my shoe wear rate. 

This Blog

During 2024 I haven't really ben paying attention to readership. Changes to Twitter/X means that think I'm getting smaller traffic through that channel. I've also continued posting about most blog posts on Facebook. I thank everyone who reads this blog, including people making comments appreciating what I say. Such feedback reinforces the reasons for writing the blog.  

Survey

As I noted last year, the 2023 survey was a summary of the highlights of the first ten surveys without asking new questions. I didn't have the time or energy to get a survey for 2024, with life carrying on being hectic most of the year. 

Community Contribution

HSP Community activities for 2024 have not changed from 2023, including:

• 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. We have some new trustees during the year, which is good from a new-ideas and a continuity perspective. The trustees and I work to help the group appropriately support its members. You can help too - please reach out to help us.

Knowledge

Along with 2023, I don't feel like I've spent much time looking into new things. I am pleased there are research teams progressing with work, including the new project run by EuroHSP. All researcher work might yield some new HSP treatment choices or understanding soon.

Symptoms Update - Blue Badge

 A short update today.

Back in the summer, after a conversation, I applied for a blue badge. My local authority have taken 5-6 months to process my application, and it seems that my HSP is sufficiently advanced for me to qualify. So, I am now the holder of a blue badge!

For those who don't know, a blue badge is a UK process, which allows the holder to park more easily. The two main areas are:

• In car parks an on-street parking, the blue badge allows to you to park for free or for a reduced rate, depending on the rules of each car park.
• You can also park on roads with some parking restrictions, most commonly roads with single or double yellow lines.

The guidance goes into detail that the badge is not a licence to park anywhere or for parking to always be free, so I now have to learn what I can now do and what I still cannot do.

I have heard others saying that the blue badge is also a gateway to other things, which I will need to keep my attention out for.

If there is another blue theme for camera club in 2025, then I have another photo idea!!

Symptoms Update - Physio and Orthotics

In the last month I've been to see both my Neurophysiotherapist and my Orthotics team.

Orthotics

I decided to re-visit orthotics as someone observed that I'd had my insoles for a long time. I went to see the team and had new moulds made of my feet. A new pair of insoles was ready a couple of weeks later, and these are working well. I'm not spotting any difference from the previous ones. I have ordered a second set for my other pair of shoes.

It seems that I fall off the list if I dont see anyone for 2 years, so I'm planning to book an appointment within that time to keep insole replacement on a regular timing.

Whilst I was there we also talked about other aspects. I now have a second night splint, which makes it easier to commit to wearing these as I can wear both at the same time. Doing this allows me to sit working at home with both splits on, and get some additional muscle stretches.

I mentioned this to my neurophysiotherapist, who advised that to get the splits to stretch my calf muscles I'd need to get my knee straight. I havent yet worked out how to do this.

We also talked about my AFO. I havent been wearing that much, because it has been time consuming to take it on and off in conjunction with my insoles. I now have a couple of ankle supports which are cloth (and flexible). I'm wearing these for a few hours most days, and I will evaluate if I am noticing a change.

Neurophysiotherapy

Similarly to visiting the orthotics team, I also went to physiotherapy to review my stretching routine. There are big changes here. I am no longer doing the passive stretches that I was given. I now do a series of active stretches which also target balance and movement. I will get a set of pictures up for these over time.

I am noticing a difference with these new stretches, in that my balance is improving, and I am finding it easier to stand from sitting.

We also talked about mobility aids, and I've now started using walking poles. I think these are helping me. They are mostly there for balance, but they also allow me to concentrate on getting my heel down first when I walk. This was the biggest take-away from the physio - when walking make sure my heel strikes the ground first.

This is OK, but it also balances against speed of walking, so I have to concentrate on doing this. Further updates another time!

 

2024 AGM - HSP diagnosis and treatment

One of the presentations associated with the UK HSP Support Group AGM was Estelle Marshall presenting the results of her Masters dissertation with us, around HSP Diagnosis and Treatment.

Estelle began by introducing her background, noting that she has her own diagnosis if HSP, and that until very recently she was a trained physiotherapist. These two aspects had led her to completing her Masters dissertation covering HSP, its diagnosis and treatment. She had interviewed around 100 members of the support group to gather their thoughts, of which she interviewed nine people.

Her study aimed to find ways to improve the diagnosis pathway, looking at the information that people are given upon their diagnosis, and also to look at which exercises that people regularly do to manage their HSP.

On the diagnosis pathway, it is long for many people, with misdiagnosis being common. Only 16% of people had prior awareness of HSP, leaving most people being diagnosed with a condition that they have never heard of before, and consequently do not know anything about.

The impacts of getting the diagnosis were variable. Several people expressed relief about getting to the end of the diagnosis pathway. Many experience grief or bereavement about the loss of aspects of their future selves. The diagnosis helped some people plan for their future. Diagnosis impacted may areas of peoples lives, including their relationships, their jobs/careers, and their everyday lives. 

About a quarter of people received no information about HSP on their diagnosis, and just over half were given a description of what HSP is. Information given included modes of inheritance, symptom progression/variation, and symptom management. Symptom management information was given to about a quarter of people.

Estelle asked one question about the support group - if people were told about the group as part of the information they received at diagnosis. About a quarter were, and about three quarters were not. However, the positive impact of the support group was mentioned many times by lots of respondents in their answers to other questions.  

In overall terms, many people talked about exercise being the most important thing to manage HSP. Exercise includes physiotherapy, stretching and keeping active. Another item is making use of mobility aids before you need them, so that you're able to use them before you must. Several people find being in control of their own destiny can be powerful. Others find that counselling/therapy is beneficial.

Looking at physiotherapy, physiotherapists can educate people about HSP, give advice on walking aids, and give advice on exercises that are useful. They can also advise on fall prevention. The top three pieces of physiotherapist advice that people found most useful are: Stretching activities, advice on mobility aids and balance training. Several people had difficulties getting access to physiotherapists. 

Broadly, exercise is key to management of HSP symptoms, with some reporting feeling more stiff when they don't exercise. Stretching takes the number one spot for being useful. For other exercises, the importance is more around finding something which you enjoy doing. Different people were doing different things, with people doing things like yoga and pilates, or swimming, weights and many other things. Exercise as a group or class can increase the likelihood of keeping it regular, and there are benefits from the social aspects. Exercise can also improve peoples quality of life and mental health.

For stretches, Estelle outlined approaches for stretching calf muscles, hip muscles and backs. She notes that stretches can be done whilst sitting or lying, there is no need to have to get into a specific position or use a mat.

Barriers to exercise included capability (physical limitations, reduced confidence), opportunity (time pressures, access restrictions, and reduced energy), or motivation (pain, opinions about exercise, convenience or emotions). 

These aspects can lead towards people leading productive independent lives. This can be important when, for example, people have had to give up their work dur to HSP. Many with HSP are keen to carry on contributing to society, and choose not to define themselves in the context of their HSP. 

You can watch this presentation here: https://www.youtube.com/watch?v=f-hobnlRk3w 

Symptoms Update - New Shoes!

Just a brief post today.

I have just started wearing another new pair of shoes. This means that the ones I got to replace the previous set have only lasted a few months.

The pleasing aspect is that the wear pattern has returned to normal, which suggests that the complete failure of the previous pair was to do with moving house and the extra stresses resulting from that. There is no sign of wear on the tops of the shoes.

The disappointing aspect is that these have lasted for 4-5 months which makes them my quickest pair to date. However, I am also on the cusp of starting to use walking poles, I have new insoles on order, and my stretches are changing, which will be the subject of more blog posts soon! I wonder if any of these will help change the rate of wear of my shoes.

I was briefly reading my recent shoe replacement posts, and I noted that I had switched type at the end of 2023 because of price. This time I have taken the bullet and gone back to Karrimor shoes, and I was lucky to find a reasonable price for these on purchase. My new shoes are Karrimor Mount, which are low walking shoes. 

Taking the start point of these new shoes as the beginning of November, this adds to the dataset, showing the number of months between new shoes decreasing each time.

Shoe Date	Months
Sep-14
Apr-17	31
Nov-18	19
May-20	18
Oct-21	17
Dec-22	14
Nov-23	11
Jun-24	7
Nov-24	5

Prevalence of HSP in England and Northern Ireland

One of the presentations after the 2024 UK HSP Support Group AGM covered the epidemiology and prevalence of HSP in England and Northern Ireland, focussing on mental health outcomes. This was presented by Harini Jeyakumar, who completed the study for her dissertation for her Masters in Public Health.

She used a dataset containing anonymous GP data from England and Norther Ireland covering the period 2000 to 2021. She used the dataset to identify people who have a diagnosis of HSP, but the dataset does not include any genetic data.

To compare the health effects of people with HSP she created a control group of people who did not have HSP, but who were otherwise matched for age, gender and location. The dataset is growing as data is added, and at December 2023 covers 24% of the population.

The overall dataset used contains 31.3 million people, and from this there are 1455 cases of HSP. This gives an overall prevalence of 4.65 people per 100,000 having HSP. There were slightly more males (58%) than females (42%) in the group, with most being middle-aged or older.

Although there were 27% without ethnicity data, most (65%) were white, with the next biggest group being Asian (6%). Geographically, people were spread fairly evenly across England, with slightly more in the South East and North West of England. Less than 1% of the people were from Northern Ireland. In terms of deprivation, the distribution was fairly even, although there were slightly more people in the higher levels of deprivation.

Harini had looked at the change in prevalence over time, in 2000 the prevalence of HSP was 2.83 per 100,000, which rose steadily over time to 6.27 per 100,000 in 2021. At the beginning of her presentation Harini had put the results of other studies up for comparison, ranging from Norway at 7.4 per 100,000 to Ireland at 1.3 per 100,000.

The mental health outcomes were also interesting. The dataset allowed pre-existing health conditions to be examined. For depression, 19% had a pre-existing diagnosis, compared with 12% of the control group. For anxiety, 12% had a pre-existing diagnosis, compared with 9% of the control group. This means that people with HSP are 74% more likely to have depression and 31% more likely to have anxiety, compared with people who do not have HSP. 

Crunching the numbers through shows that people with HSP are 57% more likely to develop depression and 41% more likely to develop anxiety. People in the more deprived areas are also more likely to develop these, as are females. Those with Asian ethnicity are less likely to develop these than people who are white, although this was a small dataset. There were a lot of interesting questions and discussion after this.

You can watch this here: https://www.youtube.com/watch?v=ARMtXWg0EOE

Regular readers will note that I have previously looked at published studies on the prevalence of HSP, back in 2011! https://hspjourney.blogspot.com/2011/08/hsp-prevalence.html. I had looked at European studies and obtained a prevalence of 2.91 per 100,000. Noting the change over time, these studies are from the period 1982 to 2009, with most in the 1990's. The prevalence Harini notes for 2000 is very similar to this at 2.81 per 100,000.

It is interesting to consider why the prevalence rate changes over time. Certainly the number of types of HSP has increased over time, and the number that are available in genetic test panels has also increased. Also, the cost of genetic testing has come down, and the availability is higher. However, there is still a diagnosis gap, with many getting a clinical diagnosis instead of a genetic one. I speculate that the awareness of HSP is increasing over time, but I also appreciate that I have a very biased view on this!

Taking the 4.65 value, with a UK population of 68.3 million, there should be some 3200 people with HSP in the UK. Allowing for the 30-40% diagnosis gap that might put the number more into the 4000's. I used this logic in 2020 in an earlier estimate: https://hspjourney.blogspot.com/2020/01/update-to-prevalence-with-hsp-in-uk.html

I was surprised that there were so few people with HSP in Northern Ireland. The population of Northern Ireland is about 3% of the population of England and Northern Ireland, and there were less than 1% of the people with HSP in Northern Ireland.

There is certainly some food for thought in this data when I wear my Support Group hat - principally:

• We ought to have a rising membership to match the rising prevalence.
• Are we known in the more deprived parts of the UK to pick up the higher mental health risks.
• Does our gender split match these findings, or are we missing a group of people.
• Do we have enough ethnicity data to explore if we are also missing out on groups of people.

HSP on Podcasts

HSP features in two different podcasts, which you might be interested in listening to. Both are episodes of the Rare on Air series, created by Eurordis.

This link takes you to the podcast page: https://www.eurordis.org/rare-on-air/

The page will open episodes in Spotify, but you can also subscribe to this and listen through other podcast providers.

The two episodes are:

Putting Patient Journeys into Action, from 12th September.

In this episode Lori Renna Linton talks about the HSP patient journey which she and I put together, synthesising the results of my surveys over time into a practical document to help people with HSP be able to highlight key issues in conversations with healthcare professionals.

https://open.spotify.com/episode/3z8u7BTx9HW2qvTN2rO7ZF?go=1&sp_cid=f4723d1b26e521993d54a2845332ea08&utm_source=embed_player_p&utm_medium=desktop

Marina Zapparoli Manzoni on the power of finding and building a community, from 27th June.

In this episode Marina (chair of EuroHSP) talks about her families journey with HSP, and how it has moved her to advocate for HSP through EuroHSP and the various national HSP groups. The voice from these groups helps move researchers towards improving their understanding of HSP and exploring treatment and support options that are useful for people who have HSP.  

https://podcasters.spotify.com/pod/show/eurordis/episodes/Marina-Zapparoli-Manzoni-on-the-power-of-finding-and-building-a-community-e2lc8f4

If you prefer to access these in a different way you can also access through YouTube:

https://www.youtube.com/playlist?list=PLAxshsSSDfaC7T0wABZeRcaOYZELtBfsV

More on Paralympics

 After the Paralympics finished I had worked out the number of medals for all of the people with HSP competing in the Olympics. I also put a photo together with all of the wonderful people with HSP who were competing:

Since this I have become aware of another person with HSP who was competing - Daniel Mendes was competing for Brazil in the swimming, and won a Bronze in the mixed 4*50m freestyle relay.

This brings the medal tally up by one to:

Gold - 3 (All from Rebecca Hart in the equestrian)

Silver  - 2 (from Roman Polianskyi in the rowing and Toni Ponce in the swimming)

Bronze - 3 (from Austin Smeenk in the athletics, Dayna Crees in the javelin and Daniel Mendes in the swimming).

If Team HSP were a country then it would feature between Greece and Venezuela, but the addition of another Bronze doesnt change this because Greece have 3 silver and 7 bronze medals.

If anyone knows other people with HSP who were competing in the Paralympics, please let me know, and I can make an updated picture to include Daniel (and any others).

The full list of athletes I found is here: https://hspjourney.blogspot.com/2024/08/hereditary-spastic-paralympians-2024.html

Here is Daniel with his team at their medal ceremony:

UK HSP Support Group AGM - Can you help?

At the weekend, wearing my 'chair' hat, I hosted the 5th digital AGM of the UK HSP Support Group. 

We had around 30 members attending, and covered all the usual matters. However, there was one important difference. The support group needs people to come forwards to be trustees. We specifically need one person to come forward and be our treasurer, and another person to come forward and be our secretary. Without new trustees we have have to close the charity.

People do not have to have HSP to help us, we need two things:

• A passion to be able to help
• Dedication to fulfil the responsibilities of the role.

If this sounds like you and you want to help, or if this sounds like someone you know please get in touch. You can leave a comment here, or contact the group by e-mail, post, telephone or through our social media channels.

You can watch all the AGM on our YouTube channel - https://www.youtube.com/watch?v=UZMv2pLRJ7M

Hereditary Spastic Paralympians 2024

 As we are coming up to the Paris 2024 Paralympics, I have had a quick look to see if I can find athletes who have HSP.

I started by looking at my post from the Tokyo Paralympics, and pleased to find that all but one of the athletes from there are also appearing in Paris. I have also done a search and found other athletes with HSP who are appearing.

I am busy preparing for the UK HSP Support Group AGM, which is on Saturday. So, this post is a quick list of the people I have found. Most of these athletes seem to have active instagram pages, so that has been my social media link of choice to put here.

Evan Austin (USA) https://www.instagram.com/e_a_swim/ 

Rebecca Hart (USA) https://www.instagram.com/rebeccahart136/ 

Katie Morrow (GB) https://x.com/katiemorrow56 

Jade Atkin (GB) https://www.instagram.com/jadeatkin10/

Roman Polianskyi (Ukraine) https://www.instagram.com/roman_alexandrovi/

Toni Ponce (Spain) https://www.instagram.com/toni_ponce/ 

Laila Suzigan (Brazil) https://www.instagram.com/lailasuzigan/ 

Daniel Mendes (Brazil) https://www.instagram.com/danielmendess6_/

Austin Smeenk (Canada) https://www.instagram.com/austinsmeenk/ 

Dayna Crees (Australia) https://www.instagram.com/daynacrees__/ 

Arianna Talamona (Italy) https://www.instagram.com/talamona94  

Milena Surreau (France) https://www.instagram.com/milena_surreau/ 

Lisa Bergenthal (Germany) https://www.instagram.com/lisa.bthal

Michael Volter (Germany) https://www.instagram.com/michvolt10/

If anyone knows other athletes with HSP in the Paralympics, please let me know!!!

(25th August - Merci to friends in France saying about Milena.)

(30th August - Thanks to friends in UK for saying about Jade, and Danke to friends in Germany for saying about Lisa and Michael)

(1st September - review of schedules shows that Hallie Smith isnt competing this year)

(22nd September - Thanks to friends in Brazil for saying about Daniel Mendes)