2022 Survey Open

I am pleased to announce that my 2022 survey is now open. 

This is my 10th survey. I am analysing changes in mobility aid use for anyone who has completed any of my previous surveys. If you have completed any of my previous surveys I ask that you please take some time to answer these questions.

The questions are available in English, Dutch, Italian, French, Spanish, German and Portuguese. These languages are the same as last year. Click on the relevant link in the table to below to access the questions in that language.

The focus for this years survey is: 

• Mobility
• Pain
• Disclosure
• Life with HSP
• Menstrual health

As previously my analysis of answers will take into account both mobility and wellbeing. I will collect answers until approximately the end of 2022, with results published on Rare Disease Day 2023 - Tuesday 28th February. Also, as before only "name" and "country" are required questions. Answer all others that you want.

If you are using your phone to complete this survey I suggest you rotate your screen to landscape to make answering the questions easier. 

Language	Link to access survey:	Responses 30 Dec
English	https://forms.gle/u3PfSNHUZzGGvBpU6	263
Dutch	https://forms.gle/Ftn53UpFxbN7KWjp6	51
French	https://forms.gle/HKAovdAscgK7Njyd7	61
German	https://forms.gle/o4achYc6ya9QWMkq8	35
Italian	https://forms.gle/JFNGfAnk7UQMGB437	15
Portuguese	https://forms.gle/gy7PBbgBt3KkkVHK8	63
Spanish	https://forms.gle/FANkK3eQp77UdxQ76	42

2nd December update

A brief analysis of the English results (as this is the biggest dataset so far) shows the following points:

• Roughly 90% of people consider themselves to be disabled.
• Most people have or would disclose their HSP to others
• Between a quarter and half of people experience more pain, spasticity, fatigue or worse mental health during their menstrual cycle.
• About three quarters of people get pain from their HSP, with the most common descriptors being cramping pain, aching pain or tiring/exhausting pain. Pain is most intensely felt in the hips, legs, feet or back.

Symptoms update - antidepressants

Just a brief update for today.

In addition to my bladder medication I am now also taking antidepressants. Really this is a combination of things happening at the same time, rather than something specific to do with HSP. Therefore this post goes further outside my HSP experiences than they usually do. I'm grouping each of the factors together in headings:

HSP

In the background of my mind I know that my HSP is progressing. My spasticity gradually increases, and my walking and cycling speeds correspondingly gradually decrease. I know that the time that I will need to use mobility aids is approaching, and I've a journey of acceptance to go through before I get there. At that point my HSP becomes much more visible, and I suspect that societies view of me will change because I'll be using mobility aids.

Relationships

I've vaguely alluded to this in a few posts, but here it is explicitly - another factor is that my wife and I separated in 2020. That has been a bit of an impact recently, and we're now moving into the zone where its time to sort out houses. One of my uncertainties in this decision is how much account should I take of my future HSP in this decision - if I assume that I would be in my next house for 10 years, then I think I'd more than likely be using a wheelchair by that point (but not necessarily full-time).

Work

What with both of the above factors, and supporting my children, there are more things which I perceive to be important outside of work than at work. This has meant that I've been less able to put my full enthusiasm into delivering my responsibilities at work.

Coronavirus

Worth mentioning that there's been a worldwide coronavirus pandemic, an energy crisis and a whole load of other negative other stories in the news. Part of me is thankful that the pandemic lockdowns hit just after we separated as most people were busy looking after themselves rather than asking me what was going on. On the other hand, if there hadn't been a pandemic then perhaps we'd have sorted the house and other things out by now.

How long on antidepressants?

I'm thinking that I'll be taking these antidepressants until after the uncertainty around the house is resolved. I've asked myself if I've noticed any difference with taking these, and the answer is that I'm not sure. The main obvious difference is that since I have started taking them my resting heartrate has dropped significantly, which is a sign that they are doing something!

2022 AGM - Molecular Basis of HSP

This post describes the information given to the UK HSP Support Group at one of their AGM presentations via Zoom in 2022.

The presentation was given by Prof Andrew Crosby and Dr Emma Baple from Exeter University. They gave an overview of the work that their team has been doing in recent years. The HSP support group had part-funded Olivia Rickman for her PhD studies, and this presentation was to report to members the outcomes of the research that we had funded. You can watch the full presentation here: https://www.youtube.com/watch?v=Mfk6qap2ric

Commonalities

They began by describing that their work covers more than just HSP, and that there is learning from different motor neuron disorders that helps improve the understanding of HSP, and similarly the work on HSP often helps understanding of other motor neuron disorders. Several of these motor neuron disorders (including HSP) affect the upper motor neurons, and there are a range of similarities in these conditions.

HSP genes

Their work has been looking at genes, with the human  having some 22-25,000 genes, of which about 7,000 are understood. Genes code life, and their job is to make proteins, which then go on to build up life. Their team have discovered 16 genes which are responsible for HSP so far. Once identified these genes offer the potential for genetic testing for families and can give insights into how HSP works. HSP changes the genetic coding of the gene, which then affects how the protein is made. Their work then seeks to understand how the HSP affects the proteins, the role of the protein within the cell, and how the change made by HSP affects that role. With this they can find out what the motor neuron is supposed to be doing, and why it is not doing that with the HSP, which offer the potential to investigate options to intervene. 

Genetic Testing

In England the genomic medicine service was recently launched, which allows whole genome sequencing. This sequencing takes a matter of days to give the whole genetic sequence. There are two panels of genes that are tested against for HSP, there is a panel with 76 genes currently for adults and 70 genes currently for children. Some genetic conditions have genetic overlap with multiple conditions, and there is a broader panel of neurodegenerative conditions which can be used, which tests against 96 genes, some of which are HSP genes.

Despite knowing about all of the HSP genes discovered so far, a genetic diagnosis of HSP can only be given to about half of people, which indicates that there are still a lot more HSP genes to be discovered. It is understood that the majority of the more common genes for HSP have been identified, which means that those genes which have not yet been identified will each affect a relatively small number of people.

Commonalities between HSP types

One of the key questions is why are there so many different genes which cause HSP - in more detail do these genes all have unrelated functions or roles or do these genes work together in common pathways within the cell. It is thought that the common pathways are more likely, so that any of the HSP genes can affect one of the common pathways, giving rise to HSP. Essentially the symptoms of HSP arise because of a problem in the common pathway. The main issue with these studies is that the function of many of the genes understood to cause HSP are not known or not well known, so identifying the common pathway is difficult.

Two of the HSP genes discovered by the team are in pathways which are well understood, so this gives a good link between HSP and these pathways, and allows understanding of HSP on the pathways to be explored. One of these is CYP7B1 on the cholesterol pathway and the other is EPT1 on the kennedy pathway. Both pathways are to do with processing fats and cholesterols, which show that these fats and cholesterols are important for HSP.

The team then looked at the other genes which have been associated with HSP to examine if these are associated with those pathways. There is some evidence which links some of these genes to these pathways. One of their recently identified HSP genes (TMEM63C) was also found to be at a key location for the fat processing routine.

Future work

When looking at the plans for future studies they are focussing on two areas. One area is to continue to find more HSP genes to understand more about the pathways and how they are affected with HSP. The other area is to look at the fat processing pathways and to understand what happens when the pathway is disrupted by HSP. Whilst these pathways are understood to some degree, the differences between how they work within different cell types is not so well knows. This area is challenging and new processes have been developed for the analysis work. They have been creating cell models for HSP and editing the genes to take the gene out. This then allows the cell to work in a similar way to how they would work in a person, and this then allows the cell functions and associated impairments to be studied.

The team are using this technique to be able to compare different types of HSP to be able to examine similarities and differences in the fat processing pathways to be able to confirm which HSP genes are involved in these common pathways.

  

  

2022 AGM - Overview of UK Benefits

This post describes the information given to the UK HSP Support Group at one of their AGM presentations via Zoom in 2022.

The presentation was given by Janet McBride from Citizens Advice (https://www.citizensadvice.org.uk/). It was an overview of the different types of benefits that those in the UK with HSP may be entitled to. Janet began by summarising the four main types of benefit which are likely to be relevant:

• Disability
• Sickness
• Low income
• Carer

Each of these is covered in a section below. The general approach for these benefits is to begin your claim by telephone, so that the date you claim the benefit from is as early as possible. Using the telephone makes the start point the day you contact them rather than the date that they have finished processing your application.

You can check which benefits you may be entitled to using one of these tools before spending a long time filling in complex forms and attending appointments. Entitled to: https://www.entitledto.co.uk/ or turn to us: https://benefits-calculator.turn2us.org.uk/

You can get help from citizens advice on any of these. If you dont like the decision on benefits then you can challenge the decision - but challenges can be difficult to be agreed unless there is new compelling evidence. You need to tell the benefit department if you have a change in circumstances. Further information can be found on https://www.citizensadvice.org.uk/.

You can watch the presentation directly on YouTube: https://www.youtube.com/watch?v=XgAImXb5YI0 

Disability Benefits

The disability benefit is not means tested. The specific benefit you would apply for depends on your age. Those under 16 would apply for Disability Living Allowance (DLA), those in retirement would apply for the Attendance Allowance, with all others applying for Personal Independence Payment (PIP). 

DLA is available for children who need more care than children who aren't disabled and/or who have difficulty moving around/safely compared with children who aren't disabled. Children must have been disabled for at least 3 months and are expected to remain so for at least another six months. There are two elements for DLA, a care element and a mobility element. There are different rates within each element, and you may get one or both elements, paid weekly. This benefit is available from the DWP: https://www.gov.uk/disability-living-allowance-children

PIP is available for adults who find everyday tasks hard, who have found these things hard for at least three months and are expected to find them hard for at least another nine months. Needs are assessed against 10 daily living different activities and two mobility activities. Each activity is scored, and there are thresholds for a 'standard' and 'enhanced' allowance. You may get either the daily living part and/or the mobility part, paid weekly. This benefit is available from the DWP: https://www.gov.uk/pip

Attendance Allowance is for people who need others to physically attend to them during the day and/or the night. There are two elements, the day element and/or the night element. This benefit does not cover mobility issues. Further details here: https://www.gov.uk/attendance-allowance

Sickness Benefits

If you are ill whilst you are employed you are likely to be able to get Statutory Sick Pay, otherwise the New-style Employment and Support Allowance (ESA) or New-style Job Seekers Allowance (JSA) are potentially available.

Statutory sick pay is payable to employees (i.e. not self employed) when you are sick for at least four days in a row and you have followed your employers rules. This is payable weekly up to 28 weeks. You may be entitled to contractual sick pay, so check with your employer if this is the case. Details here: https://www.gov.uk/statutory-sick-pay

New-style ESA is available if you are self employed or if you are still sick after your 28 weeks of statutory sick pay. You must have sufficient national insurance contributions. This is paid weekly. Details here https://www.gov.uk/guidance/new-style-employment-and-support-allowance

New-style JSA applies if you have decided that you are not likely to be able to return to your original job, but you are likely to return to work in a different role. You must have sufficient national insurance contributions. This is paid weekly. Details here: https://www.gov.uk/guidance/new-style-jobseekers-allowance

Low Income

Universal Credit is available if you are too ill to work and you don't have enough to live on. It is the main means tested benefit for people of working age. There are a number of elements to this benefit above the standard amount, including housing, children, childcare, sick or disabled and carer. There are a whole host of criteria which need to apply. If you are sick or disabled you may get more money, and you may not have to look for work whilst claiming this benefit. Details here: https://www.gov.uk/universal-credit 

Pension Credit is for people who are above pension age and who dont have enough to live on. There are two parts, guarantee credit and savings credit (savings credit for people who reached state pension age before 6 Apr 2016). Claiming pension credit can increase the value of other benefits. Details here: https://www.gov.uk/pension-credit 

Carers Allowance

This is available if you spend at least 35 hours a week caring for someone and you earn less than £132 a week after deductions. The person you are caring for must also be getting at least one of specific benefits. If you care for someone for at least 20 hours a week you can get carers credits to help with national insurance and allow you to claim some other benefits. This benefit is an income replacement benefit. You can only apply for one income replacement benefit, so for example you could not receive carers allowance at the same time as getting a state pension or contributory JSA/ESA. But, you may be able to get a premium added to other benefits. Details here: https://www.gov.uk/carers-allowance

SP Foundation 2022 Conference

The USA HSP group, the SP Foundation, held their annual conference a couple of weeks after the UK HSP Group. They have put their conference up on their YouTube channel. There are some interesting presentations made. I've not watched all of these in full, but have dropped in and scan watched to get a feel of these.

John Fink gives advice on how to exercise with HSP. https://www.youtube.com/watch?v=lnWNVQoAEoI - he gives approaches how how to dance with HSP to promote exercise, muscle movement and brain training. He includes a summary of treatments for HSP symptoms.

Chelsea Burton talks about symptomatic management of spasticity. https://www.youtube.com/watch?v=ffYBcmzK24A - She covers in detail what happens to muscles with spasticity, both positive and negative. She describes different physical therapy options - starting with stretching, and covering orthotics, ultrasound, FES, strength training and other options. She also gives details of various spasticity medications.

Angie and Jeremy McCord give the meeting some exercises to do! https://www.youtube.com/watch?v=EkB9pztTYyc Some of these use exercise bands.

Darius Ebrahimi-Fakhari talks about lessons learnt in childhood HSP. https://www.youtube.com/watch?v=kcUtKubq9io - he describes their cohort of children with HSP, and talks about approaches for drug discovery, looking to develop in cell testing for drug repurposing. 

Hande Ozindler talks about developing treatments for upper motor neuron diseases. https://www.youtube.com/watch?v=5naax-hv__E - She talks about how her lab are researching treatment options for upper motor neuron degradation. 

Peter Baas gives an overview of HSP, and then talks about options for investigating treatments for SPG4.  https://www.youtube.com/watch?v=5llJfLCf8gs#

There is a panel discussion taking questions from the audience: https://www.youtube.com/watch?v=p7XrluYZwUU. John Fink then answers some more questions! https://www.youtube.com/watch?v=KGyjiCUqjSc

Successful 2022 support group AGM

I'm pleased to report that last weekend the UK HSP Support Group successfully held its AGM. We took the decision to hold this virtually to make it accessible to as many people as possible.

I think that it went very well, and we had lots of different speakers popping in to say a few words, which was really good and stopped people getting bored of hearing the same voice speaking all the time.

You can watch the AGM here: https://www.youtube.com/watch?v=iJkWzmnx9eY

The highlights of the AGM are:

• What is HSP? (01:11)
• Cardiff dissertations (07:40)
• Estelle runs London Marathon (18:27)
• 1000 Mile Challenge report (19:37)
• Potato Pants festival (21:23)
• Raising awareness award (38:42)
• Fundraising award (41:24)
• Summer presentations (48:14)

The discussion after was also good, and the group is going to investigate compiling a list of the different HSP specialists that people see, as this will help people seek out where they can see a specialist at the beginning of their HSP journey or at times later down the line when they start to experience symptom changes more rapidly.

Athletes with HSP in Commonwealth Games

Regular readers will note that I have identified athletes with HSP at the Paralympics. I thought to try and do the same for the Commonwealth Games. The organisation of the Commonwealth Games is different from the Olympics, and the Commonwealth Games website doesnt appear to have a searchable area to find athletes from the current games. So, I've had to resort to Google!

My first port of call was to look at the athletes I identified for the Olympics and see if any were taking part in the Commonwealth Games. Out of the eight athletes, only the UK and Canada have teams in the Commonwealth Games (Ukraine, Spain, Brazil and USA are not in the Commonwealth). Neither Ian Marsden or Austin Smeenk appear to be competing - Canoe/Kayak/Rowing are not in the Commonwealth Games, and Austin is not listed in the Canada team list.

My wider search for athletes with HSP on Google found three. Kieran Jones from Wales competes in both Basketball and Shot-put. You can hear an interview with Kieran here: https://anchor.fm/adventureswithaggie/episodes/AWA-X-Kieran-Jones-Shot-Put-and-Javelin--5x-British-Champion-e18ot3j - He is not shown on the Team Wales basketball team, and his focus on Twitter (https://twitter.com/Kieranjones____) now appears to be on shot put for the Paris 2024 Paralympics.

I already knew about Lily Rice, competing for Team Wales in the swimming (https://hspjourney.blogspot.com/2022/05/lily-rice-commonwealth-games.html) and recent tweets from Lily indicate she is on the path for the Games.

I also found Síomha Nic Bradaigh, competing for team Northern Ireland, also in the swimming. Various information here:

https://www.swimireland.ie/news/team-announcement-2022-commonwealth-games

https://belfastmedia.com/siomha-nic-bradaigh-commonwealth-games

Both Lily and Síomha appear to be swimming backstroke in the S8 category, so they may be competing against each other.

I will keep my eyes out and see if I can find any more athletes with HSP in the Commonwealth Games.

Symptoms update - weight gain

Just a short post for today. In the last few months I have been cycling a lot less than previously. There have been a lot of things going on, and it has been easier to spend my time focussing on those things than going off cycling.

The downside of not cycling is that my weight has increased. Also, according to my sports watch, my cardio fitness has decreased. I am considering if weight gain and decreased cardio fitness is an inevitable part of reduced mobility. 

Changes: The immediate change is to make more time for cycling to decrease my weight and increase my cardio fitness. In the longer term I'm going to need to consider if I need to make some dietary changes to influence my weight with the foresight that my mobility is on a downward trend. And, whilst it is appropriate for me to get back out on my bike more whilst I still can, I'm going to need to think about what exercises I can do in the future when riding my bike becomes more difficult.

Reminder - the benefits I get from cycling are: regular exercise, fresh air and thinking space. In a commuting to work sense I also get cost, time and environmental benefits compared with driving, as well as the avoidance of parking restrictions at/near my office.

Lily Rice - Commonwealth Games

There was some exciting news the other day. Many with HSP will know of Lily Rice, who has been amazing people with her wheelchair back-flips and her medals in WCMX.

Lily is competing for Wales in the Commonwealth Games in the summer, in the swimming.

Regular readers will have spotted that I looked for athletes with HSP for the summer and winter Olympics, and Lily becomes the first athlete for my Commonwealth Games list!

You can see more info here:

https://www.swimwales.org/cy/news/fantastic-four-para-swimmers-selected-for-commonwealth-games

https://www.bbc.co.uk/sport/av/wales/61601015

https://www.instagram.com/p/CeEM-gxIGuc/

https://www.bbc.co.uk/sport/wales/61602780

Good luck Lily!!!!!

Accepting the future

There's quite a bit going on in my life at the moment, with me needing to think about moving house in the not too distant future. This is quite an interesting topic and its making me realise that I have to take my future mobility into account in that decision making process.

Regular readers will know that my legs are a bit stiff, that I get through shoes at a reasonable rate, and that I'm needing to use the bannister to go up and down stairs. Running is something that I cannot do for more than a few paces, and I'm starting to need to help myself up when standing up. I consider that whilst my HSP affects me, it does not do so significantly at this time.

I know that I'm going to end up needing to use a wheelchair in the future, and I've known this for quite a long time. However, I've always put this sufficiently far forward in the future that it hasn't needed to influence decisions I've made. In recent months I've felt like this future isn't really so far in the future, and perhaps I ought to be thinking about that future in a more practical way.

I'm not one for moving house regularly, so I would expect that whichever house I end up living in is likely to need to be able to deal with me using walking sticks and potentially either a walking frame and/or a wheelchair depending on what I need and what I find most useful. I know that stairs are going to become progressively more difficult, so I know that this will have to be a factor in any decision. Equally, I am likely to need to change my bike for another mode of transport, that may be an electric trike of some kind, or a mobility scooter, and I'm going to need space to be able to store this and transfer on/off.

So, I like to plan and I like to know whats coming up. I am hopeful that my daily stretches keep my mobility with me for as long as possible, but I also know that change lies ahead. The uncertainty on my progression is not so good for my mental health. I worry that I might be worrying too much, my progression will stay slowly progressing and am building unnecessary factors into this house moving thought process. Whilst at the same time I worry that my HSP will progress faster than it is at the moment, and I'll move into a house that is suboptimal for me in a only few years time.

There are, of course, a load of other non-HSP factors that I need to take into account - children, working from home, energy efficiency, proximity to school, budget and so on. Readers should not be surprised to know that I've got a spreadsheet to track all this......