HSP maps

I have found 2 online maps showing the locations of people around the world with HSP. One of these I had found recently, the other I've known about for some time.

The http://freyerse.org/index.html database shows people with HSP, PLS and ALS. This is based in the USA, and (according to the website) was originally set up by Frank Reyerse who was diagnosed with PLS in the early 1990's and aims to connect people with HPS PLS and ALS together worldwide. The map is branded with the http://sp-foundation.org/ logo, and the database now seems to be owned by them. Most of the people on the map are in North America and Europe, but there is also a reasonable number in Australia and New Zealand. I dont seem to be able to find the number of people shown. I have recently and previously tried to get added, but that didn't seem to get through. I've asked why.

The http://www.diseasemaps.org/en/ site has been put together by a group of chronic disease sufferers. The map covers a large (over 100) range of rare diseases,  including HSP. There are nearly 90 people with HSP shown, mostly in North America, South America and Europe. You can find these also on Facebook https://m.facebook.com/Diseasemaps and Twitter https://twitter.com/diseasemaps. I was able to add my details and was visible on the map immediately.

It's clear to me that neither maps are truly worldwide because they have very few people in Asia and Africa, but perhaps this says more about either Internet access and the indexing of search engines or the activity of patient support groups in these parts of the world than it does about the prevalence of HSP.

One final map, on the UK HSP group website you can see a map with the locations of its members, but this is an image rather than an interactive map (link here: http://www.hspgroup.org/)

If anyone has spotted any other maps, I'd love to know about them.

update to walking and pilates

A brief update on a couple of things:

Walking: At one of the AGMs I went to someone was describing their walking technique as "heels down", And I also recall hearing that from my physio. It seems like a good way of concentrating on walking. As an alternative, my orthotist suggested another way of getting the same result, and that is to walk "toes up". I've tried this, and it feels like a refreshing change to find a new way to think about this. I think I'll alternate between these.

At the same time, I'm also thinking about my knees, and making sure that I move my knee joint each step, particularly extending my lower leg before it touches the ground.

Pilates: New 'trick' at pilates this week. The class in the gym before pilates is body pump (or something like that...) in which they use steps within this class. This week my instructor suggested that I lay on the step for things like the half roll-back, which seemed to help me. Obviously, by getting my back up in the air, my legs are more straight, my hamstrings are not so tight, and that means I can get more out of the exercise.

My instructor observed "wish I'd thought of this week's ago". Looks like the step will be another part of my pilates apparatus. I think this will replace the foam blocks I'm using for those sitting exercises, e.g. spinal rotation.

A quick look on the Internet suggests this is called an "aerobic stepper" and the height is adjustable. I can't find the exact ones at the gym, but this is the kind of idea. http://stepup4fitness.com/21/equipment/aerobic-stepper/

New In-Soles - A trip to Orthotics

Part of the process from my appointment at the HSP clinic in London last year has (almost) finished with me being given a pair of custom in-soles.

I went for an appointment to see the orthotics team in June. I have "overpronation" - which means that as I transfer my weight from heel to toe walking forwards my foot rolls inwards. So, the weight of my body is borne by the inside edge of my foot, rather than the whole foot. This leads to excessive wear on the inside edges of my shoes, and overpronation can lead to stability problems. Overpronation is common with tight calf muscles.

This style of walking can lead to calluses - hard, thicker skin that develop when the skin is exposed to excessive pressure or friction (http://www.nhs.uk/Conditions/CornsandCalluses/Pages/whatarecornsandcalluses.aspx) . Indeed I have some of this on my feet, on the insides near my toes. The advice is to manage this by visiting a chiropractor, who would remove some of that thicker harder skin. A treatment would be to remove the cause, which in the case of HSP may prove difficult!

However, the analysis by the orthotist was that I have good motion and strength in my legs, and so the reccomendation was to give custom in-soles a try. So, imprints were taken of my feet by me putting each foot in a box of foam (for the florists amongst you, a bit like Oasis, but black instead of green). These were sent away so that EVA insoles could be made. These would be soft at the toes and have a rigid back section.

Earlier in September I went to collect these. (they were ready earlier than that but there was much faffing around with the appointment). Where I am able to remove the insoles of my shoes it is an easy fit to get the insole in. However, for most of my shoes removing the insole is impossible. In this case I need to adjust the laces to allow a little more room.

We tried them in several of my shoes - I was advised to bring a couple of pairs in - and it is clear that they do correct the overpronation. So, hopefully that will cause my calluses to ease off (note, these are not uncomfortable at the moment). When I first stood with the insoles in I could feel that they were pushing the arch of my foot up, which automatically puts more pressure on the outside of my feet.

As the insoles are making a change to my walking style the advice is to wear them in, starting with wearing them for half an hour on the first day, and then doubling up each day so that I'll be wearing them all the time. We discussed my cycling, and decided that I dont need to wear the insoles when cycling. I'll be getting a review in a few weeks time, and I'll be able to get a second set of insoles then. This will mean that I'll have one set to keep in my work shoes, and another set to wear at home.
Interestingly, I now realise that I dont really wear shoes at home at all, so thats a topic for the review.

I've been trialling this whenever I've been wearing shoes going out, and my feet are getting used to this. Next week I'll move the insoles into my work shoes and more than likely leave them there. I'm able to trim the soft edge of the insoles myself so that they fit whichever shoes I wear, and they are able to refine the shape of the hard bit at the orthotics centre.

What do they look like?

This! Here's a picture (before they get too scruffy in my shoes!). The hard bit has the black base, and the flexible bit at the front has the white base.

Further down the line we might consider AFO's and/or carbon fibre/plastic insoles, depending on how things progress.

A final note on muscles from my first session. Muscles act on points, so you can imagine replacing each muscle with a bit of string and controlled by a puppeteer. The calf muscles attach to outside of the heel, so tight calf muscles raise the outside of the foot. The other thing to remember (and I got this from Physio too) that there are two sets of calf muscles, one which attaches above the knee (the gastrocnemius) and which which attaches below the knee (the soleus). So, if your aim is to stretch your calf muscle you need to do two different stretches, one for each muscle.

2015 Survey open

Update: This 2015 survey is now closed. For details of the results of this survey and any current surveys, please see this page: http://hspjourney.blogspot.co.uk/p/my-on-line-resarch.html

Original Post:
After the success of my previous surveys, I'm continuing the pattern with another survey this year.

My main focus for this survey is understanding the modifications which people make around their homes to live with HSP. I also touch on depression and quality of life.

Following the previous pattern, I will collect results until around the end of the year and analyse these to publish on rare disease day 28th Feb 2016.

Also like before, all questions are optional, and I don't collect any personal info apart from your name. If you took part last time, I'd appreciate using the same name to allow tracking.

I would appreciate any readers with HSP to complete this.
http://www.surveygizmo.com/s3/2310166/d1b822668a8e

UK Rare Disease Survey open till sept.

I saw this rare disease survey earlier in August, and have completed it myself.

Rare Disease UK (http://www.raredisease.org.uk) last did a survey which was published in 2010 and have one open now for completion by anyone who cares for, or is affected by, a rare or undiagnosed disease.

The survey takes between half an hour and an hour to complete, depending on how much information/detail you put in. The survey is open until September, so there are a few weeks left for your contributions.

Rare Disease UK is the body which is:

• Campaigning for a UK Strategy for Rare Diseases
• Capturing the experience of the rare disease community to inform policy
• Providing a united voice for the rare disease community
• Raising the profile of rare diseases
• Supporting the rare disease community

Completing this survey add another voice to the collection and may help shape policy/strategy in the future. https://www.surveymonkey.com/r/rduksurvey

5 Years of blogging

I realised the other day that we're already in August (and now over half way through). My first blog post was back in June 2010, which means that I've now been blogging for just over 5 years - and this is post number 128.

Reflections on this - When I first started this up I had in mind that it would be like a diary. I'd record my thoughts and findings, and that maybe a few other people would find it useful. I'm now 5 years down the line, and to a degree my blog still acts like a diary for my thoughts, and the way in which I write acts two-fold, firstly to present those thoughts so that others can read them, but also to act as a reminder to me for how I was feeling/what I was doing at the time.

I also realise that there are plenty of people who like to read up the information that I find. I get contacted fairly regularly be people who thank me for this blog, and how they have found it useful. the four most popular categories of pages in terms of readership are:

• My own autumn survey
• Reports from the UK HSP Support Group AGM
• Pages about particular HSP symptoms
• Reports about HSP research

However, I'm most happy to get comments when people are able to relate to the experiences that I describe or learn something new.

Talking of which I tweet about HSP some of the time. If you dont mind also seeing various noise/acoustics things you could follow me https://twitter.com/munkee74. There are some recent #RareDisease things I've spotted and tweeted about:

Swedish scientists create an artificial neuron that mimicks an organic one

Scientists at Sweden’s Karolinska Institutet and Linköping University have built what they claim is a “fully functional neuron” that mimicks the functions of a human nerve cell.

The “organic electronic biomimetic neuron” combines a biosensor and ion pump. It senses a chemical change in one dish and translates it into an electrical/ionic signal that travels along an “axon” to a “synapse” and releases chemical signals in another dish, that then trigger another neuron, etc.

Such a device could eventually be miniaturized and implantable, says lead investigator Agneta Richter-Dahlfors, Karolinska Institutet professor of cellular microbiology. The research objective: improve treatments for neurological disorders, which are currently limited to traditional electrical stimulation.

This strikes me as being potentially useful for HSP.

http://www.kurzweilai.net/swedish-scientists-create-an-artificial-neuron-that-mimicks-an-organic-one?utm_source=KurzweilAI+Daily+Newsletter&utm_campaign=f0426ca9bd-UA-946742-1&utm_medium=email&utm_term=0_6de721fb33-f0426ca9bd-282035690

Paralyzed men move legs with new non-invasive spinal cord stimulation

Five men with complete motor paralysis were able to voluntarily generate step-like movements thanks to a new strategy that non-invasively delivers electrical stimulation to their spinal cords, according to a new study funded in part by the National Institutes of Health. The strategy, called transcutaneous stimulation, delivers electrical current to the spinal cord by way of electrodes strategically placed on the skin of the lower back.

“These encouraging results provide continued evidence that spinal cord injury may no longer mean a life-long sentence of paralysis and support the need for more research,” said Roderic Pettigrew, Ph.D., M.D., director of the National Institute of Biomedical Imaging and Bioengineering at NIH. “The potential to offer a life-changing therapy to patients without requiring surgery would be a major advance; it could greatly expand the number of individuals who might benefit from spinal stimulation.

This also strikes me as being potentially useful for HSP.

http://www.nih.gov/news/health/jul2015/nibib-30.htm

Nike Launches Flyease, Changing The Game For People With Disabilities

For college sophomore Matthew Walzer, simply putting on his shoes was an impossible task. Lacking the dexterity to get his foot in and out of his shoes, the Florida teen, who was born with cerebral palsy, had to enlist the help of his mother and father or others. While he could dress himself, Walzer, 19, told The Huffington Post, “shoes were the one issue” he had learned to deal with and accept.

So he decided to do something about it. Walzer, then in high school, sent a letter to Nike, first reaching out in 2012. His letter ended up in the hands of Nike CEO Mark Parker, who in turn passed it along to Tobie Hatfield, the company’s senior director of athlete innovation. Coincidentally, Hatfield had just embarked on his own journey to explore what Nike could do to help athletes facing physical challenges as well as the Challenged Athletes Foundation.

What resulted in the three years since was a partnership between Walzer and Hatfield’s team at Nike that culminated Monday with the company's unveiling of the Zoom Soldier 8 Flyease. The shoe is the first of its kind for the company, and perhaps any athletic brand specifically designed and dedicated to help those with disabilities and difficulties of buying and wearing shoes. It will be available July 16 in limited quantities at Nike.com for North America.

“It’s basically kind of kickstarted a lot of work in this area,” Hatfield said of the shoe and the company’s hopes to continue innovating. “Once you start down this road, I don’t know how you could ever go back,” he said.

Whilst I've not yet had to deal with clothes issues, I already notice rapid wear on my shoes, and it makes me wonder if this focus might end up with there being some relevant clothing for those of us with a spastic gait.

http://www.huffingtonpost.com/entry/nike-flyease-shoe-technology_55a3eec6e4b0b8145f731bde?section=parents

AGM2015: Potato Pants - Ian Bennett

The last part of the AGM was from Ian Bennett, who had been to an HSP meeting in Madrid. There were representatives from 9 HSP groups there, 7 from Europe as well as from Australia and the USA (and apologies from 2 more European groups). The meeing was at the Euro-HSP GA and AGM. You can read about the meeting here: http://eurohsp.eu/events-meetings/past-events-meetings/ga-2015/record-of-the-meeting.aspx

The meeting was talking about the various HSP groups joining forces and being able to form international groups, effectively enabling an international research alliance. Readers who are members of HSP support groups who wish to be considered for research programmes should make their group aware of this (whenever these have been discussed before, people would find out the details of the trial and be able to make a decision whether to participate or not. If you're not on the list then you wont be asked.....)

From the record of the meeting I copy-and-paste the part about setting priorities for the groups moving forward collaboratively/together:

Setting Priorities- the leader from each group nominated what they believe to be the most important mutual priorities emerging from the meeting. The most commonly mentioned priorities are:

• supporting the development the global HSP registry with a view to successfully staging phase III clinical trials in the future
• developing a common symbol/logo for HSP globally, that will signify alignment and collaboration between national support groups, and help present a unified face to external key stakeholders such as clinicians, researchers, regulators, relevant government and non-government bodies, the pharmaceutical industry, the global HSP community, and to the public at large
• investigating taking on a new and different role in attracting funding.

These seem like a really good set of priorities!

The other part of the meeting which Ian talked about was the Potato Pants campaign....

You can see here a video of Lori Renna Linton describing how HSP has affected her, and how she described to her daughter that trying to walk with HSP is like having 10kg of potatoes on her legs. This was something which had to be tried at home, and after that a school set the challenge....
https://www.youtube.com/watch?v=56XdjtrpZlo

You can see the event in the school (in Austria) here where the runners have special "potato trousers". They then chose to issue the challenge to two other schools....
https://www.youtube.com/watch?v=K80Q8BnU-V0

When I watch the video of the event I can see that there are indeed some similarities between these runners and how I see people move with HSP, so actually the 10kg of spuds (=potatoes) is a good description.

Why was this discussed at the meeting? - Firstly the event at the school raised 6000 euro for HSP, which is a great amount, and the nominations out to other schools is like the ALS ice bucket challenge from last summer. The questions are: Could potato pants be a global symbol for HSP? - and following that can we make this into an awareness/fund raising challenge like the ice bucket challenge?

Its a couple of months now since the UK AGM and I'm kind of drawn also to the idea that this could also be an educational thing as well. Like in ante-natal classes they sometimes get the dads to strap on a false tummy with (the equivalent weight of) a fully developed baby etc. inside. Could this be a STEM style activity? http://www.stemnet.org.uk/

I need to put the how could we fund raise from this into some more thought - its very easy and video friendly to get a bucket of iced water thrown at you, but more of a challenge to get some extra weight in your trousers and show. Thinking caps on.....................
 

AGM2015: Insights into HSP from Drosophila - Dr Cahir O'Kane

Dr Cahir O'Kane works at the Department of Genetics at the University of Cambridge.

Dr O'Kane's talk was around the study of HSP in Drosophila - also known as fruit flies. The first aspect was why do we do this. Firstly, they have a short development period, going from egg to adult in around 10 days. Also they are small, so one wall of the room at Cambridge can hold 15,000 flies. They have 4 of these rooms and there are several groups working with these flies.

Flies and humans had a common ancestor with humans around 600 million years ago, which means that flies share about 80% of their genes with us, including the HSP genes. The team are able to breed paraplegic larvae, and as they age they lose the ability to climb. You can see this here: http://labs.cellbio.duke.edu/kinesin/WTKHClarvae.html.

These flies have axons in a similar way to humans. Nerve fibres or axons are typically up to 10,000 times longer than a cell body, and cell engineering is needed to maintain the axons. In HSP the longer axons breakdown first.

We have around 20,000 genes and the fly has around 14,000. Over 70 HSP genes have been cloned, and more continue to be found, around one every couple of months. Each gene disrupts a particular protein. Figure 2 here http://sp-foundation.org/file_download/510e252f-c9ec-484c-a90b-8f95372a499f shows which HSP genes affect which parts of the nerve fibre. Within this figure tubular endoplasmic reticulum (ER) can be seen, which forms a network within the cell.  The axons in the fly have a similar ER shape.

Some of the HSP proteins have roles in the integrity of axonal ER in any organism. The research on the flies shows that if a fly is bred with the removal of one of the SPG/HSP genes there are mild effects, and with the removal of multiple HSP genes the ER becomes fragmented - and the nerve no longer functions as intended.

What does the future hold? It is possible that the functions of axonal ER could be altered by drugs, however at the moment it is not known which of these are important to maintain the axon.

The researchers have shown that it is possible to genetically reverse HSP in flies, but they are some way off being able to do this in humans in the embryo. The two of the issues putting this into practve are that there is a much larger risk of miscarriage, and that this is prevented by biomedical regulations (ethics). The researchers dont know all about neurons yet - if the letters in the DNA were printed in a book the human genome would take around 2000 books to print it all. Each gene within the DNA is several thousands of letters in length.

Dr O'Kane mentioned the Tom Wahlig Foundation (http://www.hsp-info.de/en.htm) who research HSP and promote an international network of HSP researchers.

AGM2015: The differences between pure and complex HSP - Prof Henry Houlden

Professor Henry Houlden works at the National Hospital for Neurology and Neurosurgery, in London. His presentation covered three areas:

• The differences between pure and complex HSP
• Genetics and genetic testing
• Shared network and genome sequencing 

Prof Houlden reminded us that HSP is generally described with increased stiffness, muscles becoming weaker and a slow progression. For pure HSP the three main areas are legs, bladder and the back. Pure HSP can also affect spasticity in other areas (including the upper body), but if there are other symptoms present then this becomes complex HSP. There is some variation in what symptoms might be expected, but these might include balance. A few videos were then shown with some examples.

If there is not a clear family history then an MRI scan of the brain and the spinal cord can help the diagnosis. For example, if there are some symptoms and compression in the spine this is not HSP and can be treatable. If the initial scan reveals that HSP is a contender, then blood an be sent for genetic testing, and tests on parents/siblings (etc.) can help in a better identification.

The scan would also show up the corpus callosum (a thick band of nerve fibers that connects the left and right sides of the brain allowing for communication: transfer of motor, sensory, and cognitive information). A thin corpus callosum occurs in some complex forms of HSP. For patients with complex HSP a repeat scan every 5 years would help to measure progress/change over time.

Some patients also experience problems with their feet - for example blisters and high arches (blisters can be a problem for people with HSP and diabetes http://www.nhs.uk/Livewell/foothealth/Pages/Diabetesandfeet.aspx) Examination of these can lead towards a diagnosis.

Prof Houlden indicated that about 30% of HSP diagnoses are not genetic. Simply, not all of the genes which cause HSP have been identified yet. There are some 25,000 genes in the body, and currently (Feb 2015) 74 different HSP genes have been identified. Getting the correct diagnosis can give you confidence - there is confirmation of what you have, and the course of can be anticipated - including potential complications. 

The most common pure HSP types with dominant inheritance are SPG4, which accounts for about 40% of cases, SPG3A which accounts for some 2-3% of cases and SPG 31 which accounts for some 1-2% of cases. The most common complex HSP types are SPG11, SPG7, KIF5A (also known as SPG10) and SPG 35. Prof Houlden did not give prevalence information. 

Types of HSP which have a dominant inheritance pattern carry a risk of 50% of passing HSP to the next generation (assuming only one parent carries the gene). Each child has an equal risk of inheriting the gene. For types of HSP which are recessive, the risk of passing the gene to the next generation is tiny, unless both parents are from the same family. Tests can be done prenatally, by CVS (Chorionic villus sampling) at about 10.5 weeks or by amniocentisis at about 16 weeks - however both tests carry risks of miscarriage and/or infection. Alternatively, Pre-implantation genetic diagnosis can be used (like IVF) to check, however this needs funding and the permission of your GP.

Prof Houlden then talked about management of HSP, by reference to Spastin (SPG4). The main points were:

• Physiotherapy and orthotics
• FES (functional electrical stimulation)
• Baclofen
• Self catheter and Detrusitol (noting Detrusitol works best if the bladder empties fully)
• High walking sticks (these result in a more upright walking position)
• Hip and knee replacement later in life.

On FES, it was observed that relatively few people were using FES 3-4 years ago, and the uptake of this has increased more recently. FES is available for HSP in London, Sheffield and Salisbury.

Prof Houlden talked briefly about bowel issues. The effects are not predictable, and this cannot be used in differentiating between pure and complex HSP. Bowel issues can usually be treated.

Prof Houlden then talked about a potential link between HSP and dementia. There can be some cognitive problems later in the progression of HSP, including SPG4. Sometimes the brain has to focus on walking which it does at the expense of other processing. These problems may also occur as a result of fatigue - which increases as it becomes harder to do more, or they may be a side effect of medicaiton being taken. If there are mental problems with HSP then tools to help cognition may be of limited benefit. In this case it is better to treat the condition.

 A European HSP network is (being) set up, with the objective of sharing information, particularly clinical problems, databases of patients and blood/MRI results. This can help research and the treatment of HSP. The network is looking for biomarkers for HSP which could track the progression of HSP, the effects on bones and/or the benefits of drugs. There is more on biomarkers here: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078627/. The shared database of patients can be used to help find candidates to take part in drug trials. It is likely that drug trials will be targeted to specific genes, and it becomes necessary to find a sufficient sample to determine the benefits of the drug.

Lastly, Prof Houlden covered getting access to services. Your GP is able to give a referral, and appointments can be booked using the choose and book system. He advised seeing a specialist in clinic once every few years, noting that it can be difficult for a local neurologist to be knowledgeable of rare diseases, but there is more money available for rare diseases at the moment, and this is leading to increased awareness.

UK Support Group 2015 AGM

In one weeks time it will be the UK HSP Support Group AGM in Leamington Spa. I'm looking forward to going and getting some first hand updates on whats going on.

There are two presentations this year:

Prof Henry Houlden - The National Hospital of Neurology and Neurosurgery: The differences and management of pure and complex HSP, Research and network update

Cahir O’Kane – Reader in Genetics – University of Cambridge

Obviously I'll put blog posts up on these after the event. Also a good opportunity to catch up with people. I've also nominated myself to go on the Groups' committee.....