Clinic Visit, Baclofen and Symptoms Update

 Hello,

I realise that there have been quite a few Symptoms Update posts from me of recent, and I wonder if that in itself is an indicator of a change in my rate of progression, a change in my perception of my progression, or if there is some other factor. I dont suppose I'll know!

Anyway - earlier I had my bi-annual appointment with the HSP clinic at the National Hospital for Neurology and Neurosurgery in London. Travel for this appointment was much easier and much less interesting this time, because it was a telephone appointment!

We generally talked around my symptom changes (more on that below) and about what would be the right change to spot that would warrant me starting to take Baclofen. It appears that this is a bit of a balancing act. It was suggested to me that Baclofen can be used to make me feel more comfortable, indicating that I shouldn't start taking it until I begin to feel some level of discomfort. Looking at various websites Baclofen works by reducing the transmission of nerve signals, thereby reducing any underlying instructions to tense. It appears that many people are affected by side effects from Baclofen, and it seems there is a three-way balancing act:

• Taking enough to cause the muscles to allow themselves to relax
• Not taking so much that the relaxation is more than is wanted
• Balancing these two against negative side effects.

It would seem that if you take Baclofen an hour or so before doing stretches then these stretches would be more beneficial as the Baclofen gives the muscles a chance to stretch longer/deeper.

An initial dose might be 5mg (half a tablet) once a day, so that the body can get used to this new drug, and then increasing the dose up to perhaps 10mg three times a day. The maximum is 100mg over a day, so there is plenty of variation possible in working out the best approach, and when to take those doses in order to get the most out of it.

We talked in general terms about my stretches, and I described that I have been modifying my stretches depending on which muscles feel stiffest. It is probably a good idea to have a review with the physiotherapist, just to make sure that I'm still doing the right sort of thing.

On the stretches front, I said that when I went camping over the summer I didnt do my stretches, and that by the end of that holiday I was starting to feel some discomfort in my legs, particularly my calf muscles. They were feeling tight and uncomfortable. Once I finished camping I re-started my stretches and the discomfort has gone away. It is my view that my stretches are really important to keep my mobility going as long as possible. 

I also explained about the level of activity which I do, and how I do need to stop for a rest every now and again, and I feel I may be on the verge of needing one walking stick. Essentially HSP isn't stopping me do anything I want, sometimes it takes me a little longer to do it. (I noted that I cannot really run, but equally I don't really want to run either). I also think that keeping active and moving about is important in keeping my mobility going as long as possible.

The general conclusion from this chat was that I seem to be doing the right things. Lower back pain was mentioned, which is something which many suffer from. The suggestion was that the lower back pain may come from your body having to use different muscles to walk as mobility decreases and legs become stiffer, so that is another thing for me to look out for. I was advised to keep an eye out on my posture whilst sitting. This is something I'm doing anyway because my job involves using a computer all day, and working at home during coronavirus, has meant that I've reconfigured my desk to be better, and I've bought a better chair to use. Sitting posture has also been mentioned to me before, back at previous consultations, and we pick up on that in Pilates as well.

Summary: Still not ready for Baclofen, Review stretches with Physio, Keep active, Keep stretching, Posture!

  

2020 AGM - Rehabilitation and Physical Activity in HSP - Dr Gita Ramdharry

For the 2020 AGM the technical presentations were held digitally via the Zoom platform, and each one was held on a different day. This blog post covers the third, Rehabilitation and Physical Activity in HSP, presented by Dr Gita Ramdharry from the Queens Square Centre for Neuromuscular Diseases in London.

Gita began by outlining some of the aims of physiotherapy for HSP. A key part of this is understanding walking patterns, and how HSP varies peoples walking pattern. They monitor gait by looking at the amount of movement in muscles and joints, and compare those with HSP against those without. There are two types of muscle stiffness - active stiffness, where there is spasticity and spasms in the muscle, which is caused by issues in the nerve pathway - and passive stiffness, where the muscle tissues become stiff or stuck-down, with stiffer muscles becoming shorter. 

They found, as an example, that during walking the knee does not bend as much for those with HSP. One of the factors leading to this was passive stiffness in the calf muscles. Passive stiffness can be relieved by stretches and splinting, whereas medication (e.g. Baclofen) can relieve active stiffness. Another factor affecting the knee movement was weakness of the calf muscle - if you dont get as much of a push up from the calf muscle, the knee doesnt bend as much. Weakness was also found in other muscles as well. Strengthening exercises can be used to regain some strength in muscles, for example using a resistance band (Gita mentioned Theraband: https://www.theraband.com/), weights, other exercises or functional electrical stimulation (FES). Physiotherapy for those with HSP is a combination of managing stiffness with either stretches or medication (depending on the type) and undertaking exercises to keep muscles strong.   

Next Gita talked about general fitness and activity, and aerobic exercise, noting that physical inactivity is responsible for 1 in 6 deaths in the UK (https://www.gov.uk/government/publications/physical-activity-applying-all-our-health/physical-activity-applying-all-our-health). Gita also found a study into Charcot Marie Tooth (CMT - a related condition to HSP) showing that there is a relationship between peoples body mass index (BMI) and the amount of time they do nothing (i.e. are sedentary) irrespective of if they had CMT or not. She has found that there hasn't been much research done into the benefits of aerobic exercise in those with HSP.  She reported a study undertaken in Norway (https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0469-0) which showed that people with HSP spent more of their day sitting than those without HSP, and the next element is to look at the impact of this inactivity.

A recent study looked at the impact of impact of inactivity on symptoms of those with HSP from Covid-19 lockdowns in the Nederlands (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339095/). The study showed that where people carried on with physical activity as before lockdown there wasnt much change in their symptoms. However, people who said that they were less active during lockdown reported worse symptoms. This provides a backdrop to discussions around why people need to keep themselves active. 

The next part of Gitas talk covered the Physical Activities in Rare Conditions Collaboration (PARCC) project. Gita began by defining that physical activity is an all-encompassing term for any physical activity which you might do - sports, household activities, gardening, general movement (etc.) whereas exercise is a sub-set of this, which is planned and structured with an aim to improve as aspect of health.  

The PARCC programme began by identifying what was important from those with HSP and other related conditions - Ataxia, Muscular Dystrophy, PSP, Huntingtons, MSA and Motor Neuron Disease. There were a lot common issues between these conditions, both in symptoms and in accessing facilities and difficulties in finding information. The first step was to identify barriers to undertaking physical activity. Common themes were around how healthcare and community facilities are organised, communication with healthcare/fitness professionals, carers and others. There was also common themes for individuals around motivation, worries and knowing what they should be doing.

A scoping review of published works showed no papers around exercise in HSP. So, there is a need to assess this. It was found that from a patient perspective the important aspects to measure for a physical activity scheme are physical wellbeing, psychological wellbeing, and being able to participate in activities. The next stage is to then develop the on-line tool for the project, which will have a range of tools, materials and stories. The project will also offer some one-to-one coaching in how to choose what to do to help with making lifestyle changes to become more active. A grant application has been made for this project, and if the grant is made then work will start!     

You can watch the whole presentation on YouTube: https://www.youtube.com/watch?v=VVEi0VZdtS0&t 

There were a few interesting things in the Q&A.

In a discussion around muscles, Gita explained that muscles work most effectively in certain range of the joint movement, and that you are more likely to notice stiffness at the extreme ends of the joint movement.

A question was asked about Revitive power plates. Gita explained that these work in a similar way to functional electrical stimulation, and that needs an intact nerve to work well, so can work well for those with pure HSP or where their nerve degradation is only in the spine, but are less likely to work well when you have nerve damage in/near the muscles.

A few questions were asked about PARC, and Gita explained that should the grant be successful the initial work would cover the four conditions: HSP, Ataxia, Muscular Dystrophy and Inherited Neuropathies. It was also asked how PARC would be certain to get a representative spread of the HSP population. This is partly to do with the numbers of participants, but Gita also emphasised that the program will give every person their own intervention, agreed in discussion with the skilled therapists, so all plans may look different to each other.

It was asked if there might be anything useful for HSP patients in the Bridges Self Management site mentioned (https://www.bridgesselfmanagement.org.uk/) - There might be - go and look!!

 

2020 AGM - Insights from a large regional HSP cohort - Dr Channa Hewamadduma

 For the 2020 AGM the technical presentations were held digitally via the Zoom platform, and each one was held on a different day. This blog post covers the second, Insights from a large regional HSP cohort, presented by Dr Channa Hewamadduma from Royal Hallamshire Hospital in Sheffield.

Channa began with a brief introduction to HSP, acknowledging that it is very variable between patients. He described that the SPG genes are numbered in the order of their discovery, and it took a long time to identify the gene for SPG3 and as a consquence this is called At-Last-In or Atlastin!

The spasticity in HSP is due to the degeneration of the motor axons in the spinal cord. He described that, as a parallel, if the diameter of the motor axon were the diameter of a football, then the length of the axon would be 7 football stadia!

Understanding the potential effects of HSP on an individual requires knowing about which type of HSP the person has. In a cohort of HSP patients some will have a family history, but many will not, they are the first person to be affected. The Sheffield cohort has 420 patients, with a clinical dataset for 371 and a gene identified in 211. Of those with a gene identified about 60% are Spast/SPG4 and around a quarter are Saraplegin/SPG7. SPG7 was thought to be rare, but may not be. SPG7 has a later onset. Cerebral palsy has been a common misdiagnosis for younger HSP patients. 

More than 40% of patients have bladder involvement and around 40% have pain or spasms. More than half of people with complex HSP have optic atrophy. With optic atrophy problems are spotted when the vision is challenged.

SPG7 is one of the genes which shows the spectra of the different overlaps with other conditions and effects. 10% of those in the Sheffield ataxia clinic have SPG7. SPG7 was discovered in 1998. Sheffield has 55 SPG7 patients, and there is a spread between those with HSP, those with ataxia and those with both. The mean age of onset is 42 years.

Further detail was given on optic atrophy. If people are less able to move their eyes they may have been told they have had a stroke rather than have HSP. Optic atrophy in HSP may mean that people are not able to move their eyes equally in every direction. They are hoping to be able to use this as a biomarker for HSP. 

An analysis of published data shows that the age of onset of HSP varies with where the mutation occurs within the gene. If the patient has inherited the same mutation from both parents then their onset may be later than if the patient has inherited different mutations from each parent. If the mutation is sufficient to prevent the protein from working (loss of funciton), the patient would have greater spasticity. 

Channa described the in-clinic process for patients, getting an assessment of spasticity, coordination, visual, mood, gait and more. They have a range of interventions available. They are planning to identify the potential for a gait biomarker, to look at the natural progression of HSP and look at the differences between types of HSP.

They have been experimenting with a single sensor gait monitoring, worn on the lower back, which can be used to see how the gait has been affected. Some data was presented looking at a 10m walk test, where a person stands, walks 10m, turns, returns and then sits. Those with SPG4 tend to have more problems standing up, whereas those with SPG7 have more problems sitting down. The gait analysis can also spot effects in mildly affected, which gives them a "trial ready" group of patients.

They are hoping to be able to analyse differences in neuro-imaging to help predict how HSP could progress in an individual.

They are also working on a drug screening programme, looking at the effects of different drugs on cells, from SPG7 , using drugs identified through re-purposing programmes. A high content imaging screen is used to differentiate between cells and controls.

You can watch the whole presentation on YouTube: https://www.youtube.com/watch?v=s3qZqLnNpBY 

In the Q&A there were a few interesting points. 

There is no difference between the terms paraplegia and paraperisis.

There are differences in the mutations in specific types of HSP around the world.

Some people get benefits from co-enzyme Q10, some from CBD oils and some from gluten free diets. A study is planned around the gluten free diet.

For each type of HSP there can be many different mutations. Some of the mutations are more common than others, and there is some variation in the mutation type/location in particular parts of the world. 

  

2020 AGM - A Eureka Moment - Prof Andrew Crosby Dr Emma Baple

For the 2020 AGM the technical presentations were held digitally via the Zoom platform, and each one was held on a different day. This blog post covers the first, A Eureka Moment, presented by Professor Andrew Crosby and Dr Emma Baple from Exeter University. They presented together, alternating between sections of the presentation. 

Andrew began by explaining that his interest in HSP stems from his belief that its later onset and slower progression make it the kind of condition where it is possible to slow or prevent progression.

HSP

Emma gave an overview of HSP, noting that the differences between the types of HSP is very large. A diagnosis of HSP. The common feature is progressive lower limb stiffness and weakness, but beyond that it is difficult to draw conclusions about how a person is affected. HSP is a condition which affects the upper motor neurons, which sit in the spine and provide the connection between the brain and the lower motor neurons which then connect to muscles. The symptoms of HSP are progressive because of the gradual deterioration of the upper motor neurons over time.

Over 80 different genes have been identified for HSP. Overall we have some 22,000 genes in our DNA, each making a protein which is responsible for the development or function of an aspect of us. A spelling mistake in a gene can cause it not to function, and HSP is often associated with spelling mistakes in the genes which are part of the operation of the upper motor neurons. 

The team at Exeter have been responsible for identifying 15 different HSP genes to date. They are also looking into commonalities between types of HSP.

When they see someone in clinic with HSP that person often wants to know if they will develop HSP or not. Particularly people want to know when they will develop symptoms, how HSP and symptoms will develop over time, and what will the effect of HSP be on their lives. A genetic test can answer if someone will get HSP, but it is only the first step.

Fat Processing

The function of most of the genes which are affected in HSP are not know. However, the function of the gene which is responsible for SPG5 is well known. SPG5 was discovered by the Exeter team. The function of the gene is know to process fats within a cell in a specific particular way. From this, we can be sure that this fat processing pathway is important in the way that upper motor neurons work, and that disruptions in the pathway can cause HSP.

The next step was then to see if the other HSP genes were also involved with the same or similar fat processing pathways. It was found that many of the other HSP genes are responsible for the same or similar pathways as SPG5, and this hypothesis has been published in Brain: https://academic.oup.com/brain/article/143/4/1073/5679762 

Additionally, there are similarities and overlaps with HSP and other degenerative motor neuron conditions - which means that if a treatment can be developed for HSP it may also benefit those with other similar conditions.

Various work is being undertaken which is showing that the hypothesis is most likely correct. The work has involved cellular models and new methods to analyse fat processing pathways so that the effects of each HSP gene in the fat processing pathway can be investigated.

Future Plans

Their future plans are to allow a completely different approach to testing. At the moment tests are looking for the specific known HSP genes, whereas the new understanding allows the test to look at the fat processing pathways instead, which avoids the uncertainties with interpreting genetic test results. They are hoping to be able to do this from a standard 10ml blood sample. 

The approach to potential treatments also varies. The aim is to look for treatments which have potential to alter the affected fat processing pathway. Any that are found can be tested in a clinical trial. The crux of these two things is that they would expect to see an improvement in the fat processing pathway with a treatment, and that improvement should be detectable from the blood test. The detection of the improvement from the blood test should be more certain than seeing a change in how HSP afffects a person with their day-to-day symptom variation. Essentially the fat processing pathway is a biomarker for HSP.

Q&A

From the Q&A at the end there were some interesting questions.

A question was asked around gene editing - this is a lab-based technique for editing one cell. These techniques cannot be used in the bodies, so it is a tool for studying rather than a tool for altering someones DNA in the body. 

Although this presentation talks about fat processing, this is not the same as the levels of fat in your diet. The management of fat/cholesterol in the blood is not the same as the processing of fats/cholesterols in the cells. There is no evidence which links levels of fat/cholesterol's in the body with HSP, although there are several with HSP who also have issues with digestion. This is an area where further investigation is needed.  

    

Symptoms update: The bowel story

Here's a summary of my bowel story - not so much of an update, but more of a recap.

For a few months prior to my first visit to the National hospital in London (2014) I'd been experiencing some bowel urgency issues - basically not being able to get to the toilet quickly enough. This had been happening about once a month, and had been a symptom which had been getting more often. I'd been devising various coping mechanisms - basically carrying extra pants around with me (generally, as well as the "plus one" rule on packing for trips away). Unlike my bladder problems I'd not been experiencing bowel frequency issues. I mentioned this to my GP, and then again at the National.

Another notable feature of my bowel habits is the "two part poo" - where I have a poo as normal, but after this has come out I know that there is more to come out, but I also know that the sphincter has closed and it will be some time before "part two" is going to make an appearance. So, rather than sitting on the toilet and waiting/forcing the rest out I get on with life, knowing I'll be back in a little while. Back at that time the "little while" might be half an hour or so.

I've mentioned various bits of this previously:
First Nov 2013: http://hspjourney.blogspot.co.uk/2013/11/symptoms-update-illness-tiredness.html
Second Jan 2014: http://hspjourney.blogspot.co.uk/2014/01/a-trip-to-doctor.html

Following the trip to the National I had a referral to the "colorectal" team, which I've also previously described: http://hspjourney.blogspot.co.uk/2014/11/a-trip-to-doctor.html.

I have noticed that since taking my bladder medication the bowel issues are pretty much entirely under control, as noted here: http://hspjourney.blogspot.co.uk/2015/02/bladder-medication-update.html

However, that is not the full story....

At one of the clinics I went to they did an anorectal physiology test. This was way back in 2015, and I'm not entirely sure why I've not blogged about this before. The test measures how well your anal sphincter is functioning, and they do this by measuring the pressure inside the bowel, and after that they inflate a balloon in the rectum and ask you to hold on for as long as possible!

The pressure tests were all good for me. The internal sphincter was well above their ball-park indicator, which is a good sign as I am less likely to develop some problems in the future. There were also no worries on the external sphincter.

However, the sphincter didnt relax as easily when I tried to squeeze, and this was described to me as being a bit like trying to get toothpaste out of a tube but with the lid still on - i.e. no matter how hard you squeeze, nothing is going to come out.

The balloon test (known as a balloon expulsion test) was interesting. Essentially the balloon acts like a stool, and the body should then feel the need to go! My sphincter took longer to sense the balloons presence than average - usually this is done within about a minute, but it took about 2 minutes for me.

The advice I was given was to bring my knees up whilst having a poo. I had a follow-up appointment after this, but as the problem had more-or-less gone away we didnt take things any further. Essentially, if things do start to get worse I have a direct route back.

On reflection I think that I have noticed both of the effects mentioned in the tests - Sometimes I know I need a poo, but I can sit down and nothing will come out. The delay in sensing that a poo is there would appear to me to be the urgency issue explained - i.e. the pressure continues to build up, and I only get 'action' when the pressure is so high that I dont have enough time to get to the toilet and the sphincter is going to operate itself.

In the intervening five years (since I've been taking the bladder medication) the issue has generally gone away. There is still the odd time that I cant get to the toilet quickly enough, but this might be one or twice a year rather than roughly every month. The two part poo is still a regular feature - I think that the gap between the two parts is getting longer, and the half an hour I noted back at that time might now be a delay through to the next day sometimes.

Re-reading my notes from the time I also spot that they recommended that I try to regularise my toilet trips so that I can get into a regular routine. This does happen some of the time, but it is more by luck than design. Perhaps another task to put into my daily routine. 

HSP on YouTube

So, this post is a cross between my blogging life, which you know about from previous posts, and my HSP Support Group hat, which I have mentioned previously here.

A while ago I had found a couple of videos from people with HSP on YouTube. I had bookmarked them with a view to writing a blog post about them one day. Those videos are still relevant, and you can read more about them further down the post!

However, coronavirus came to town, which meant that the Support Group was not able to hold its AGM face-to-face this year. Fortunately we were able to hold it electronically, which we did using Zoom - this was a great success - the digital AGM ranking highly in our all-time number of attendees list. My previous blog post was my usual summary of AGM post - and you can read that here: https://hspjourney.blogspot.com/2020/07/uk-hsp-support-group-agm.html

But, the story doesn't finish there, we had a quick discussion and decided to make a YouTube channel for the group, so in a few clicks I move from being someone who aspires to make a blog post about HSP content on YouTube to actually being one of those people making such content! (note - I'm using this phrase in the loosest possible sense - the AGM is a team effort). As I write the only video is the AGM recording, but we will add more videos as our digital journey develops. For those who wish to jump straight to the channel, go here: https://www.youtube.com/channel/UCkxTfcI4tKYNMYsgzVumpWA

The description of the AGM includes a few time pointers - the full list is here:

03:27 - Chair report

05:05 - Coronavirus and meeting changes

06:43 - Meetings and conferences attended

07:29 - Our new website (feel free to play!)

08:13 - Honorary members

09:05 - The David Pearce bequest

10:53 - Award presentations

12:31 - Ambassador

15:30 - Funding of research

16:10 - Help that the group needs (here!)

17:30 - Secretary report

19:02 - Membership secretary report

22:30 - Treasurer report

28:00 - Voting on reports

29:53 - Trustee elections

32:32 - Any other business

33:40 - The 2021 AGM

34:23 - Upcoming HSP presentations

So - if you wish to go and watch - go here: https://www.youtube.com/watch?v=J1yBY0wPm1o& - and dont forget to like and subscribe!!!

So, back to my original idea about writing a blog post on YouTube content - I had thought that I'm unlikely to be the only person seeking out information on YouTube about HSP, and a couple of people I know with HSP have made or been in such videos. I lost a few hours searching, clicking and watching HSP videos on YouTube, and I have started some playlists on the channel so that others searching for HSP can find them. At the moment there are three playlists, but as new videos come to light I see this changing. The first three are:

Those with HSP: https://www.youtube.com/playlist?list=PLM0_-wMVB0ncw1aG3ONLtJPL9nF_TzrKg - Various personal stories about HSP

HSP information: https://www.youtube.com/playlist?list=PLM0_-wMVB0ndjbS0gk7sHsn-Celr2LjL1 - videos which present more medical aspects of HSP or research into HSP

Potato Pants festival: https://www.youtube.com/playlist?list=PLM0_-wMVB0ncCvH6daKN2v9oMgw7Kxw5m - This festival is run in Dorset by Ian Bennett to both have a good time and to raise awareness about HSP and also raise a little money for the group. The live festival has had to take a coronavirus pause this year, so the videos of previous years seemed like a good reminder.

Finally, the channel also contains links to a load of other relevant channels, so if you're using YouTube to look for further information, then this might be a good place to start: https://www.youtube.com/channel/UCkxTfcI4tKYNMYsgzVumpWA/channels

If you can recommend any other videos or channels with an HSP connection, please drop me a line - the playlist and channels is very much a work in progress.

Enjoy your viewing!!

 

UK HSP Support Group AGM

A couple of weeks ago the UK HSP Support Group held its AGM. Due to the effects of Coronavirus it was held on-line via Zoom. Group members and regular readers will note that the AGM usually has the official business first, followed by a series of presentations. The on-line AGM covered the official business part of the AGM only, with the presentations advertised for later in the summer.

Of course, I write this post wearing my chair of the group hat, and the us/we references are about the Support Group. You can read a summary of activities below, but if you'd prefer to watch a recording of the AGM, read my latest blog post with links and more details: https://hspjourney.blogspot.com/2020/07/hsp-on-youtube.html. Written summary:

Activities as usual:

• Welcoming new members to the group
• Meetings
• Member and researcher grants
• Newsletters (all on website)
• Attendance at HSP and Rare Disease meetings (January 2020 Newslink covers most)
• Asking for people to help (new page on website)

New Activities:

• Digital Meetings - needed to do this due to Coronavirus
• David Pearce bequest - details of the bequest and how we are using it - including two new awards
• New committee structure has started up
• Searching out new honorary members - healthcare professionals who work with HSP patients
• The new group website has gone live
• Existing group profile on FaceBook, and new ones on Twitter and LinkedIn 

Thank You!

It was important to recognise and thank all those who had contributed to the group during the year:

• Members - Without members we wouldn’t be here
• Volunteers - Their valuable time makes this group work
• Fundraisers - Activities raise funds and awareness - Amazing!
• Researchers - Their work gives us hope

Award for fundraising

This year, the award is given to Peter Bateman who over the period 2011 to 2019 raised over £10,000 for the group. He did this by providing HSP Group customised key rings and pens together with collecting boxes at hotels and golf clubs etc. near where he lived, his regular replenishment and cash collection no doubt helped in delivering this fantastic amount for us.

Award for raising awareness of HSP

This award is given to Lily Rice who has used her situation to great advantage in becoming the first European person to complete a wheelchair backflip. She has become a mentor to other young people who are coming to terms with life in a wheelchair and uses these opportunities to raise understanding and awareness of the condition and of the Group. Lily was on BBC1 a couple of weeks ago, and I encourage you to watch her episode of Our Lives, Defying Gravity on BBC iPlayer.

Ambassador - Amber Meikle-Janney. 

Last year at the AGM we made Amber our first ambassador for the group, and Amber was really pleased about this. Amber works with the charity Back-up, which helps people with spinal cord injury. Amber teaches wheelchair skills, and when working for the charity has an honorary spinal cord injury herself. These courses are great because they help people do more with their wheelchairs, and it helps people to see them as a benefit more than a burden. 

Research Grants

We received three grant applications recently and have used our newly developed assessment procedure

to successfully evaluate them. We have been able to provide funding for all 3 applications received:

• University of Exeter – PhD student working on biomarkers, aiming to develop a predictive HSP blood test, applicable to all types of HSP.
• University of Sheffield – PhD student working on biomarkers and gait analysis for SPG7, aiming to develop predictive measures.
• Institute of Molecular Biology and Pathology, Rome – Work on predictive biomarkers for SPG4

Elections

Two Trustees, Adam Lawrence and John Mason were at the end of their present term and are standing for re-election. Mitesh Patel is standing for election for the first time.

• Adam Lawrence was re-elected by a unanimous vote.
• John Mason was re-elected by a unanimous vote.
• Mitesh Patel was elected by a unanimous vote.

Presentations

On-line presentations will be given as follows by speakers we had arranged for the AGM:

• Saturday 25 July - Prof Andrew Crosby and Dr Emma Baple are going to be talking about their work on cholesterol processing which was published in the neurology journal, Brain last year. They will also talk about their plans for the future.
• Saturday 1st August - Dr Channa Hewamadduma is going to talk about the work that him and his team undertake in Sheffield, looking at some of the insights and learning they have gained from their approaches to working with a large cohort of HSP patients. 
• Tuesday 11th August - Dr Gita Ramdharry will be talking about the Physical Activities in Rare Conditions. She will also cover more general aspects of rehabilitation and the importance of physical activity for those of us with HSP.

10 years of blogging!

It was on 23rd June 2010 that I wrote my first blog post here. I didnt know at that time what I was really planning to do. I had decided that two posts a month would be a good level of posting, and 261 posts later I think that was the right decision to make (there have been a few months where I have posted more than twice!).

Interestingly, FaceBook told me earlier that 23rd June was also the date when I put mu my first poster at the Spatax meeting in 2016, so it looks like this may be a memorable date for me!

If you'd like to go back to where it all began - follow this link: https://hspjourney.blogspot.com/2010/06/my-history.html

If you'd like to see about my 2010 Spatax poster - follow this link: https://hspjourney.blogspot.com/2016/06/international-meeting-on-spastic.html

What with Coronavirus taking a fair proportion of my time (in one way or another) since March, I've not really had a chance to make lots of noise about my survey results - I'm planning to do that a bit more after the AGM for the UK Support Group (4th July - https://hspgroup.org/) and before I launch my 2020 survey in September.

My 2019 survey results are here: https://hspjourney.blogspot.com/2020/02/2019-survey-results.html

The key points on medication is that there is no single point source of information for this, and many drugs that people are taking dont have published results showing benefits for those with HSP. Regular travel, music and exercise were shown to suggest better wellbeing, and being lonely/isolated and needing to take many medicines suggested lower wellbeing.

I'd like to thank everyone who has taken the time to read my blog posts over the years - regularly, occasionally or just by chance! I get lovely feedback, and I am pleased to know that what I say helps others on their journey with this Rare Disease!

HSP pain

This post is another one where I explore a symptom of HSP - this time pain.

My 2013 survey showed just under 80% of people with HSP had back pain, with similar results in my 2018 survey. I looked in more detail at pain in my 2017 survey, where around 80% of people get some pain with their HSP. Of these, over 95% have some pain in their legs, over 90% have pain in their feet, and over 80% of have some pain in their back and hips.

There are a few published papers on this:

Out of 109 people with HSP in The Netherlands with pure HSP in 2020, 72% reported leg and/or back pain: Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands - 

https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-1338-4

Depression and pain were significantly increased in a study of 118 SPG4 patients in Germany in 2020: Non-motor Symptoms Are Relevant and Possibly Treatable in Hereditary Spastic Paraplegia Type 4 (SPG4) - https://pubmed.ncbi.nlm.nih.gov/31646384/

A study of 108 people with HSP in Norway in 2016 reports that those with HSP more frequently report musculoskeletal pain compared with controls: Health survey of adults with hereditary spastic paraparesis compared to population study controls - https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0469-0

34 patients with SPG4 in Brazil reported higher pain, fatigue and depression than controls in 2016: Non-motor Symptoms in Patients With Hereditary Spastic Paraplegia Caused by SPG4 Mutations - https://pubmed.ncbi.nlm.nih.gov/26806216/.

My 2017 survey showed that most people use medication (either prescription or over the counter) or physical therapy (either exercise, manipulation or massage) to relieve pain. 

Heat and cold therapy, relaxation techniques and TENS machines are other methods used by at least 10% of respondents. The average number of methods used to treat pain is 3, showing that most people use more than one method to control their pain.

There were no common trends between the choice of medication and use of mobility aids, with all of the most common methods of pain control being used across the full range of mobility scores.

Furthermore, people who do not get pain from HSP have a better wellbeing than those who get pain from HSP.

My 2019 survey looked at medication. Respondents taking medicine for pain form the second largest group of around one fifth of all the medication being taken (the biggest group being medication for spasticity and spasms). The pain medication being taken falls into two main groups, one group is for pain, whereas the other group is for nerve pain, pain from spasms, and other HSP symptoms.

The first group (pain) includes common pain medication, some of which is available over the counter, e.g. paracetamol and ibuprofen, and others are prescription medication like fentanyl and morphine. Further analysis of that group was not undertaken.

The second group includes some medications that are used to treat effects of HSP, and these include:

Pregabalin/ Lyrica, Duloxetine, Pramipexole, Oxycodone, Nabilone and Nabiximols. Whilst there are no papers reporting these drugs for use in HSP all but Nabilone are indicated as potential treatments on some HSP websites.

Links to my surveys mentioned:

2013: http://hspjourney.blogspot.co.uk/2014/02/hsp-survey-results.html
2017: http://hspjourney.blogspot.com/2018/02/2017-survey-results.html
2018: https://hspjourney.blogspot.com/2019/02/2018-survey-results.html
2019: http://hspjourney.blogspot.com/2020/02/2019-survey-results.html

Until recently pain as an HSP symptom was routinely experienced by people with HSP but there were no published papers identifying this as a symptom to the wider healthcare community. 

Fortunately this issue is beginning to be addressed - the 2020 paper from Germany concludes: "We recommend that clinicians regularly screen for depression, pain, and fatigue and ask for bladder, sexual, and defecation problems to recognize and treat non-motor symptoms accordingly to improve quality of life in patients with SPG4." It is my opinion that this approach would work well with other types of HSP as well.

Symptoms update - uneven legs, and feet

A bit of a symptoms update, mostly around foot care.

I had noticed some time ago that I was 'gathering' dead skin on my feet. I had been avoiding scrubbing the bottoms of my feet in the shower because it was difficult to do that, and I had more important things to get to (like a coffee!)

I decided recently that this situation had to change, and I shouldn't leave the dead skin on my feet, so I started two things - a foot care routine, and adding stretches in to my routine to make it less difficult to clean the bottom of my feet in the shower.

So, on the foot care front, I found an old foot bath in the garage which I resurrected and soak my feet for half an hour every now and again. I also bought a range of tools for dealing with my feet, the most vicious of which looks like a rasp, and there are a few files and a pumice stone. I've been scraping the dead skin off every now and again, and applying moisturiser most days. Readers should note that foot care is not my speciality, this approach just felt right for me after a quick bit of Googling! Its an ongoing project, but there is definitely less dead skin on my feet now!

On the stretch front I have added the simple stretch of sitting on the floor with my legs crossed. I cannot do this without leaning back on something, so I sit with my back against some furniture and then get my legs as far crossed as they will go. I focus on trying to get my knees to go down, hold for about 30 seconds and then swap my legs over (so the other foot is closer to my body) and repeat.

The stretches are working because it is becoming easier to be able to get to the bottom of my feet in the shower, so that is good (and hopefully the footcare means I will get less dead skin building up).

The interesting thing to note is that my gait is most affected on my left leg - that is the shoe which get the wear/damage quicker. For foot cleaning it is more difficult for me to lift my right foot. This tells me that I am getting degradation in both legs, but that degradation seems to be affecting different muscles in each leg - and why this post has "uneven legs" in the title!

The great unknown is why I was collecting the dead skin there in the first place. I suspect that a big part of this is lack of regular scrubbing of my feet. But, I also think that part of it will be due to my insoles causing my foot to be at a different angle in my shoe which will re-distribute my weight to different parts of the foot.

I think that the message I would like people to take away is that stretches can help get movement back. It is a question of working out which muscles are tight, and then finding a way of regularly stretching those muscles so that they become longer and are used more regularly. You should notice a change with a new stretch (the change may be small and it may take a few days/weeks to be noticeable)