A journey to HSP/FSP
This blog records my journey to Hereditary Spastic Paraplegia (HSP, also known as Familial Spastic Paraparesis or FSP). I was diagnosed with SPG4 in 2009 when my wife became pregnant with our first child. I currently wear insoles, do daily stretches and weekly Pilates. I take medication for my bladder. I tweet about HSP, RareDisease and other things @munkee74.
Monday, 31 March 2025
Ferrule Change
Friday, 28 February 2025
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.
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
Wednesday, 26 February 2025
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
- 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)
- 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
Friday, 31 January 2025
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
Friday, 27 December 2024
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.
Sunday, 22 December 2024
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.
Friday, 29 November 2024
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!
Sunday, 24 November 2024
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-hobnlRk3wWednesday, 30 October 2024
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 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 |