Thursday, 24 August 2023

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.


 

Sunday, 13 August 2023

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.

Friday, 28 July 2023

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.
   


 


Thursday, 20 July 2023

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

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. 

Wednesday, 28 June 2023

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!

  

Saturday, 17 June 2023

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))


Sunday, 28 May 2023

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.

 

Wednesday, 24 May 2023

Symptoms Update - Fatigue

Its worth me making a note of this. I've once again been finding myself quite tired, and I've noticed that my mobility feels more difficult. I assume that my increased stiffness is a result of me feeling tired.

I was chatting with someone the other day trying to describe more detail around the fatigue symptom. This was quite useful as I'd not really put into words what had been going on. In my view fatigue from HSP has two elements, there is both a physical fatigue and a mental fatigue.

Firstly, the physical fatigue. In the most simple terms, you have to put more effort in to moving muscles, and supplying that extra effort comes at a cost. Each muscle movement - particularly in the legs - needs to do the usual work moving as it would for someone without HSP, but you also have to overcome the spasticity as well. In the muscle pair the muscle being asked to relax doesn't get that instruction fully, so the contracting muscle also has to overcome the residual tightness in the muscle.

Secondly, the mental fatigue. Whilst you're not specifically asking the muscles to do different things they are doing that. That extra work adds to your brain power as you have to amplify the instructions to make sure they get through. Your body is also having to compensate for any additional delays in processing, delays in movements, and changes in balance. Add on top of that any additional adjustments so that you dont scrape your feet on the floor (etc.) means that more brain power is needed to walk about.

On top of the additional brain power in moving around, some people will also be affected by burdens of being 'different' - worrying about what other people think whilst they are moving, uncertain about how HSP is going to change in the future, and how HSP might affect relationships with other people. I've chosen three examples here, and I know that different people can have different worries. For many these feelings dont go away, and that adds to the mental fatigue of HSP.

This helps explain why many people with HSP find it hard to walk and do anything else at the same time. There is much more brain power needed, meaning to stay safe (or at least not wobble around so much) effort has to be put in moving above talking etc. which people want to do when they are out and about with others.

It also makes me realise that the decisions to use/change mobility aids are not just going to be about the physical mobility side of things, there will be a big range of mental considerations as well.

I'm obviously trying to make sure that I'm trying to improve my sleep and feel less tired, but thats quite a challenge right now!


Saturday, 29 April 2023

An excellent afternoon with students

Recently I was asked by Jon Marsden at Plymouth uni if I would talk with a group of physiotherapy students and occupational therapy students about HSP.

I was very pleased to do this, and I had a very enjoyable hour chatting with the students. We covered some of the symptoms and variation in symptoms for those affected by HSP, and a quick overview of the treatments for the more common symptoms.

I also gave my story, how my HSP is progressing, the types of appointments I've had with physiotherapists, and my general HSP timeline.

We also covered some of the barriers and problems that people with HSP often face when dealing with healthcare assessments, and I included mentioning that people often have to repeat their stories time after time, and in the focus on HSP specifics general questions on how people are is often missed.

I got asked a few good questions at the end, and it felt like a really useful session.


Saturday, 22 April 2023

Driving with HSP

With my support group hat on, an interesting question came up recently. This is aimed at UK readers. The question was about if people with HSP need to declare their HSP to the DVLA. (international readers note that DVLA is the body which issues and controls driving licenses in the UK).

This is a question which I'd not really thought about, so I went to look up details on their website.

The overall headline is that of you have a disability or a 'notifiable' condition then you must tell the DVLA about this. HSP is not a notifiable condition, so the answer is around if you consider your HSP to make you disabled. If it does, then you ought to tell the DVLA. https://www.gov.uk/driving-medical-conditions

Now, deciding if you are disabled or not is a very personal decision, and many people have different interpretations on this. So, for the purposes of considering informing the DVLA it may be beneficial to use the definition of a disability in the Equality Act 2010, section 6.

https://www.legislation.gov.uk/ukpga/2010/15/section/6

This says that a person has a disability if they have a physical or mental impairment, and the impairment has a substantial and long-term adverse effect on their ability to carry out normal day-to-day activities.

So - if your HSP does not have a significant impact on your day-to-day activities, then you dont need to declare, otherwise you should.

You must also tell DVLA if your condition or disability has got worse since you got your licence, and I assume if it has got worse since you previously told them.

There is plenty of information on the DVLA website about if you need to tell the DVLA about certain medical conditions: https://www.gov.uk/health-conditions-and-driving/find-condition-online with the list here: https://www.driving-medical-condition.service.gov.uk/conditions/listing

HSP does not appear in this list, but many of the conditions that are similar to HSP (and are often misdiagnosed for HSP) are: Ataxia, Amyotrophic Lateral Sclerosis (ALS), Multiple Sclerosis (MS) , Cerebral Palsy (CP), Parkinson's. These similar conditions all say that you must tell, so the safe route for people with HSP would be to declare this to the DVLA.