Rare Disease Day

This is the first post on Rare Disease Day in a long time when I have not had a set of survey results to publish. I'll use this as an opportunity to get back to basics around this day.

Rare Disease Day 2025 – Raising awareness for people living with rare diseases and their families worldwide.

A rare disease is one which affects fewer than 1 in 2000 people, i.e. less than 0.05% of the population. All together there are over 7000 rare diseases, which reveals that 1 in 17 people are likely to be affected by rare disease at some point in their lives.

If your disability or health condition results from a rare disease, your journey through the healthcare system can much more challenging than with an 'everyday' disease. It can take many years to get a diagnosis. You keep having to explain your situation to successive healthcare professionals (who have 'never' heard of your condition before@). When both the affected person and healthcare professional have limited knowledge, the forward path can vary from indistinct to non-existent. The rarity of many of these conditions means that when treatment options are available, they can be limited or re-purposed from other conditions. Support can be hard to find. Advocating for yourself can be hard work.

There is a UK Rare Diseases framework which aims to resolve some of the issues faced by people around diagnosis and care. Several charities provide broad support for different types of rare disease. Work in Europe leads towards resources which can be used by people with rare conditions to help them have conversations with healthcare professionals. I add the link for the one for Hereditary Spastic Paraplegia.

UK Rare Diseases Framework - GOV.UK

Rare Disease UK - Genetic Alliance

Patient Journey Hereditary Spastic Paraplegias (HSPs) – ERN-RND | European Reference Network on Rare Neurological Diseases

 

  

2024 Blog Data and Health Review

This is now my third post with an update of the blog and my heath data. Things have taken a little longer than last year, but I am there now. 

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

• Index - easy!
• Survey summary (my on-line research page) - this is still to do....

Blog statistics

This data has been updated, but I havent really paid much attention to it this year. The more popular posts follow the general pattern. It feels like I've had less energy for blogging in 2024 than previously, and my posts are generally up in the last days of the month. There were more symptoms updates and general posts, and less meetings and research posts. This reflects my general activities. 

• In 2024 I didnt run a survey. I reviewed the findings of the 10 surveys that I had previously done. There are issues with my e-mail service not permitting me to send e-mails with the number of contacts that I have, and I havent worked a solution out for this for any future surveys. This has likely generated less traffic to the blog. 
• I am posting less about posts on X an FaceBook. 
• The comments made about my mental health last year about 2023 also hold true for 2024, with possible influence on my writing style.

Health data (Symptoms timeline page)

The health data for 2024 shows a few interesting patterns:

• My weight is slightly down on 2023
• My alcohol level is similar to 2023
• My sleep duration is similar to 2023 
• The number of active minutes is similar to 2023
• My total number of steps is similar to 2023

I think this means that I'm now in my new normal. 2024 is generally similar to 2023, which was different from 2022 and earlier years. I have similar aspirations for 2025 - seeking to get my weight down and improve my cardiovascular health. In summary I need to keep up the exercise and pay more attention to what I'm eating and drinking.

There has been a big change on the mobility aids in 2024, I started using walking poles. My Physio changed my stretches from passive to active stretches. I will be keeping an eye out to see if this affects my shoe wear. My Neurologist was clear that I am starting to lose strength in some muscles, and I think this might be starting to show up in balance as well.

Back to Pilates, as I said last year, I'm having to improvise a few adaptions during classes for some movements. I am now more comfortable having a chair/wall/table near where I'm doing my Pilates to allow me to keep my balance more. The light touch on something else with my hand means I can focus on the movement that we're working on, and not also having to focus on my muscle weakness and balance.

Last year I said about considering myself as a disabled person. In my mind the poles and the blue badge make things much more apparent to onlookers, but I realise that I've had a distinctive gait for a few years. 

Clinic Visit

Today I went to the National Hospital in London for my annual check-up.

My previous check-up was in 2023, but my original appointment in late 2024 had to be re-scheduled till early 2025. This was my first in person appointment since Covid. It was good to back in person, even if the location of the check-in had changed within the hospital!

I saw a new member of the team, so the first part of the consultation was a review of where I am, my family history and that kind of thing. Whilst this is information which I'm frequently having to say each time I meet a new healthcare professional, it is good to reflect on it with a new perspective. The observation this time is around talking about this to my kids, noting that even if they do have HSP they've another decade or two before anything happens. I think this is a conversation I need to have with them in  the relatively near future though.

We concluded that there was nothing unusual about my symptoms, and everything appears to be in order. We reviewed my medication, and there are no changes to be made at the moment. On the mobility front, I'm being recommended to get some some strength and balance exercises, and to generally try and keep myself healthy. I have reasonable strength in my muscles, although there are some which are beginning to get a bit weaker. For example my hamstrings are strong, but my quadriceps are a bit weak. The strength and balance exercises are likely to come from a neurophysiotherapist.

On the bladder front I noted that I'm finding the need to go to the loo more often, and we're going to try and get a local (to me) appointment with a neurourology clinic to find out more about what is going on. There is a balance to be struck with the medication, as I noted that since starting to take the bladder medication my bowel issues had become substantially smaller.

Other key points to note are to focus on my ankle muscles, and to cut down my alcohol. She notes that alcohol can reduce the intake of vitamin B1, which can help keep the nervous system healthy. This is an interesting idea, and I have checked that my current multi-vitamin includes vitamin B1. This led to another interesting point, in that too much vitamin B6 can cause neuropathy. This indicates that there is a bit of an overlap between HSP's effects on the nerves and effects from other issues. My multi-vitamin also contains B6.

I had seen some pages a few years ago about dietary supplements, with some people with HSP claiming some benefits from these. I might have to investigate more this one day......  

Symptoms update - review of walking poles

I have now been using my poles for a few months, so its time to reflect on the changes. 

From a practicality point of view, I think that the wear on my shoes is less, so that indicates that my walking posture is better. Of course, in the same timeframe I've also changed my stretching routine, so that may be another factor in walking. I think that my walking style is better irrespective of the rate of shoe wear. 

I feel that I've a bit more headspace to think about my posture and the way that I'm lifting and moving my legs whilst I am walking. I dont think I was able to do that before, so the poles are making a difference. I perceive the difference to be mostly down to balance, where I have a few more milliseconds to think instead of feeling I have to get my feet on the ground as quickly as possible. 

From a broader perspective, my slower pace is more visible to others, and I'm finding that people are giving me more space and time to be able to do things. I accept that this change makes it more obvious that I have a disability, and appearing on the other side of the Yes/No binary answer to the "are you disabled?" question, which is something I'm having to come to terms with. 

There are a few other things that are different with using poles. As I have one in each hand, I've had to change the types of bag that I use. Whereas I used to carry bags in my hand, I'm now using a rucksack for most things. This is very useful whilst I'm mobile, but there is more hassle getting things in or out of my bag as I have to stop, take the bag off, etc. etc. which is another slower pace of life item. I have bought a little clamp which allows me to use a pole as a selfie-stick, which is neat. My current look-out is for a little holder I can clamp onto a table etc. so I dont have to pay attention to watching if my poles are going to fall to the floor whilst I'm sat down. I'll update with my findings. 

When using stairs, I'm able to hold both poles in one hand, and use the other hand for the hand-rail. This trick is also used when I'm wanting to use one hand for something whilst out and about. For two-handed activities - like taking a photo, I'm using the straps on the poles to give me use of both hands.

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.