Groups around the world

I posted (about 3 years ago) a list of support groups that I'd found which had websites in English. In the interests of letting more people know about this blog and trying to get some more reponses to my survey I've made contact with all of the HSP groups I can find (thanks to lists on the UK HSP group and Rare Connect). The full list (in no particular order) is:

UK: http://www.hspgroup.org/
US: http://www.sp-foundation.org/
Australia: http://www.hspersunite.org.au/
Switzerland: http://www.hsp-selbsthilfegruppe.ch/index2.php
Spain: http://www.aepef.org/
France: http://asso.orpha.net/ASL/index.htm
Germany: http://www.hsp-verein.de/startseite.html
Germany: http://www.hsp-info.de/ (Tom Wahlig Foundation - a group who funds HSP research projects)
Norway: http://www.regioner.nhf.no/index.asp?id=63230
Italy: http://www.vipsonlus.it/
Denmark: http://www.sca-hsp.dk/index.html
The Netherlands: http://www.vsn.nl/ (neuromuscular disease group)

These groups are all in Europe, North America and Australia, and this grouping of countries therefore provides some support for HSP sufferers covering about 15% of the worlds population, so I'm wondering how people with HSP in the other 85% of the world get their support. (I accept I've made a number of gross simplifications here).

If any readers know of support groups/communities/websites for HSP in other parts of the world, I'd love to hear from you.

Research Update

This month there's been an update on various HSP related research activities posted on the Australian HSP Research Foundation website - http://www.hspersunite.org.au/. There are four articles on genetic testing and advances in testing ability, along with a study into leg muscle stretching and another on balance issues. Finally an article on the barrier that medication needs to cross is given. I've lifted the summaries of these pages and popped them here, along with links to the full articles.

Next Generation Sequencing diagnostics for HSPs - Germany leading in HSP gene testing
Researchers in Germany have developed an “HSP-Panel” that will provide HSPers with cutting-edge gene testing services. Based on next-generation sequencing (NGS), they have packed 38 HSP genes together with 50 other genes responsible for clinically similar diseases onto the panel. This means that almost all known HSP genes can be screened for in one single examination, in a much shorter time frame, and at around the same cost as the limited testing currently available.

http://www.hspersunite.org.au/next-generation-sequencing-diagnostics-for-hsps/

HSP gene testing advance in China - Success in detecting point mutations

A gene chip has been developed in China that detects 96 of the more common HSP point mutations accurately and consistently in this gene screening.

http://www.hspersunite.org.au/hsp-gene-testing-advance-in-china/

Next generation gene testing - Helps identify non-SPG4 HSP

Associate Prof. and Director of Neurogenetics at Sydney’s Royal North Shore Hospital, Carolyn Sue, headed up this research study. Dr Sue has been involved with stem cell research for several years. Next Generation Sequencing (NGS) was used to successfully identify the HSP mutation in one quarter of HSPers in a study who were known not to have SPG4 HSP. Targeted NGS may be a useful method to screen for the multiple genes associated with HSP.  

http://www.hspersunite.org.au/next-generation-gene-testing-3/

Sharing genetics knowledge - New software will aid progress

The widespread availability of new software to analyse large genomic datasets will provide a fast, powerful and flexible tool to enhance identification of the genetic causes of diseases such as HSP.  A software tool (GEM.app) has been developed to annotate, manage, visualize, and analyze large genomic datasets (https://genomics.med.miami.edu/). GEM.app currently contains ~1,600 whole exomes from 50 different phenotypes studied by 40 principal investigators from 15 different countries.
http://www.hspersunite.org.au/sharing-genetics-knowledge/

Calf muscle spasticity studied - Lengthening the muscle may help 

Lengthening of the calf muscle by, for example, aggressive stretching programs may help to improve function in people with calf muscle spasticity.

http://www.hspersunite.org.au/calf-muscle-spasticity-studied/

Nerve conduction impairment in HSP studied - Signals to and from the brain are very different

The nerves that take signals from the brain to the legs and feet do so normally in HSPers, but different nerves that bring the signal to the brain from the feet are where the abnormal delay happens due to slow conduction times.

HSPersUnite gave a “plain English” interpretation of this research study from the Netherlands that examined posture and balance issues with HSP:

1. They put HSPers and non-HSPers on a platform that would tilt forwards or backwards under researcher control.

2. To maintain balance when the platform tips forward, it is necessary to contract the calf muscles to maintain balance; when it tips backward, you have to contract your shin muscles.

3. HSPers could not maintain balance as well, and had slower reaction times of the order of 30-40 milliseconds, compared to the non-HSPers.

The mechanism in operation is this:

* The feet detect a change in orientation of the surface with which they are in contact.

* Information is sent by an impulse along nerves to the brain where it is processed. The nerves that carry these impulses from the feet to the brain are called afferent nerves.

* A response is then sent by an impulse along different nerves down to various structures in the lower limbs such as muscles, which then respond so as to maintain balance. The nerves that carry these impulses down from the brain are called efferent nerves.

4. Next, the researchers introduced a sound into 25% of the trials to coincide with the start of the platform tipping backwards.

5. When there was a sound, both HSP and control groups responded faster, and they both responded in the same time.

The mechanism now in operation is this:

* The ear picks up the sound, which is transmitted to the brain for processing exactly the same for both HSPers and non-HSPers.

* This is faster and makes the (afferent) nerve response from the feet to the brain redundant as the brain already has the information it needs from the sound.

* A response is then sent by a nerve impulse along the efferent nerves down to the lower limbs.

So it is reasonable to conclude that the efferent nerves that take signals from the brain to the lower limbs do so normally in HSPers, and that the afferent nerves bringing the signal to the brain from the feet (when there is no sound) are where the abnormal delay happens due to slow conduction times.

http://www.hspersunite.org.au/nerve-conduction-impairment-in-hsp-studied/

The blood-brain barrier

The blood-brain barrier is important in HSP because any drug treatment needs to successfully cross this barrier to find its way into the upper motor neurons or nerve cells to counteract the impairment caused there by HSP mutations. An article, written by Dr Karl (a funny, slightly eccentric, wildly enthusiastic and hugely knowledgeable, self-professed geek who regularly shares his wisdom on all manner of scientific things on radio, TV and in print) explains what the blood-brain barrier is and how it works.

http://www.hspersunite.org.au/the-blood-brain-barrier/
http://www.abc.net.au/science/articles/2013/07/23/3808471.htm

Autumnal Survey 2013

Update: This 2013 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:
I thought, as the year draws to a close, that I would start a new feature each autumn. My thought was to capture information in a survey each year and report the findings in the new year. I know that there are about 700 page views a month on this blog, but I have little idea about my audience except for their country. So, my first survey is to find out a little more about the type of person who reads my blog, which will set the scene for future surveys.

I would be grateful if you would spend a few minutes to answer my 2013 survey.
http://www.surveygizmo.com/s3/1360676/HSP-Symptoms-and-Mis-diagnoses

I'll also post this link around on FaceBook, RareConnect and other places.

Symptoms update - tide turning?

I wonder if I'm on the cusp of the start of the onset of significant symptoms. In the last few weeks I've been feeling that my legs are a bit stiffer, and my feet are a bit sore.

There doesn't seem to have been any specific things going on out of the ordinary. I'll keep tabs on this and see how things change.

I'm sort of expecting that this would be case as that is what happened to my mum.

It feels a bit odd to be waiting for this to happen, expecting the tide to turn and symptoms to change quite quickly, a bit like the current rate of change of sunset time as we move from summer into autumn.

On other matters I'm reconsidering the patients like me website. They are out to make money by selling information to companies, but I'm now thinking that this would be another way perhaps to influence the way drugs are developed.

Why am I reconsidering? I'm following them on twitter, and there are some interesting tweets. I tweet about HSP in and around tweeting about noise. Most HSP things I tweet about are on here as well.

Opportunity to influence - Disaster survey for disabled people

Following on from Dr Nairs presentation at the  HSP Support Group AGM, here is an opportunity to influence thinking. The UN Office for Disaster Risk Reduction (UNISDR) and partners have  launched the first-ever survey of people living with disabilities on their coping capacity in the face of a disaster event. They have a survey for people living with a disability which runs until September 25th 2013. 

The survey seeks to establish (in simple terms) peoples disabilities and their ability to respond in an emergency. The survey also asks about types of disasters that you might encounter in any one year and planning for such disasters. There are 23 questions. This link tells you about the survey: http://www.unisdr.org/2013/iddr/#.Ug9fgpKsiSo

The survey (the English 2013 Survey on Living with Disabilities and Disasters) is here:
http://www.surveymonkey.com/s/XJFJD96
As the top of the survey indicates: "THIS SURVEY IS INTENDED ONLY FOR PERSONS LIVING WITH DISABILITIES AND CAREGIVERS" I've not actually answered it myself.
Various background reading:
http://www.unisdr.org/archive/34174

http://www.un.org/disabilities/default.asp?id=1546

AGM2013: Promoting Walking Ability (Alison Clarke)

This post is the fourth and final post about the UK HSP Support Group AGM. Alison Clarke is a physiotherapist from the Northern General Hospital in Sheffield.

Alison began her presentation by giving the four things which a person needs to be able to walk:
1) Each leg must be able to support the whole weight of the body.
2) You must be able to balance on one leg
3) You must have sufficient muscle power to be able to swing the leg & trunk forwards
4) You must have the ability to swing the leg forwards.

Alison observed that for HSP the main problem is not being able to swing the leg forwards, there are problems bending the leg, with swinging it forward, and with heel strike. People with HSP bring their weight forward, with excessive trunk lean. As a result people with HSP have short steps, walking is slow, requires lots of effort, and various compensations are made. Several people end up falling over backwards.

HSP affects the gait because the condition affects the muscle tone. This can cause pain, bring on joint stiffness and reduce balance. When muscles are not used they become shorter and become weak.

When you have some walking issues, this is the time to have a review with a physiotherapist.

Alison then went on to discuss walking aids. These include:
Sticks/poles
Crutches/gutter crutches
Walking frame
Rollator/gutter rollator
Wheelchair
FES

'Gutter' refers to the type where you would put your forearm into a 'gutter' rather than hold just with the hand. Alison observed that with frames and rollators it is important to consider choices of seats, handles and ferrules.

Sticks and poles are used to aid balance rather than support weight. For HSP Nordic walking poles can be useful as they keep your body upright and increase your momentum. Having two of these aids is better than having one as two aids will keep you more upright.

It is preferable to use your own muscles and balance to walk and move, but considering using aids is not negative.

It is important to choose your aids carefully, they should put less stress on your posture, give you less pain and give you more endurance.  More importantly, perhaps, is that aids improve your aesthetics - people who use aids look more like an average walker than those who don't use aids.

Aids also give you more access to places, can help you at work or at leisure, and give you confidence. They can be a positive thing.

If you move with your own muscles you will maintain the quality of your muscles and balance, and using aids will reduce this.

Conversely you need to use aids when you cannot do what you want to, perhaps because you are falling or tripping.

Therefore, its a balance - you will need to spend some time maintaining your muscles and balance, but also use appropriate aids when you are looking to enjoy yourself. Elbow crutches can be a good choice.

There was quite a bit of discussion around this balance between aids and self moving after the presentation. Generally people in the room felt they should have started to use aids earlier.

I asked when someone should make their first appointment at the physiotherapist. Alison advised that you should if you are showing any small signs. If you leave it too long it can be hard to reverse any habits that you've picked up.

AGM2013: Research Update (Dr Siva Nair)

The third paper presented was a research update on treatment, given by Dr Krishnan Padmakumari Sivaraman Nair of the Royal Hallamshire Hospital, Sheffield. Dr Nair indicated that he tended to abbreviate his name to Dr Siva Nair.

He indicated that HSP affects 1.3 in 100,000. He has been reviewing papers published about HSP, and identified that he had found 356 papers published since 1971, 142 in the last 10 years, and only 11 relating to treatment.

The databases he listed were:
AMED, http://www.ebscohost.com/corporate-research/amed
EMBASE, http://www.embase.com
PsycINFO, http://www.apa.org/pubs/databases/psycinfo/index.aspx
BNI, http://www.library.nhs.uk/help/resource/bni
CINAHL, http://www.ebscohost.com/academic/cinahl-plus-with-full-text

Dr Nair then went on to describe three treatments: FES, Botox and Intrathecal Baclofen, focussing on the latter.

Intrathecal Baclofen uses a pump and tube to deliver the muscle relaxing drug directly to the spine. One of the main issues is that it is very easy for the pump to deliver too much or too little drug. As an option, it is not one to be considered lightly.

Dr Nair posed the question why were there so few papers on treatment? A comparison with MS (I think) shows that about half of the papers are to do with treatments.  One factor is that there are many groups who are actively influencing research there. He suggested that there was no reason why this couldn't be true for HSP as well. There were four strategies he suggested for getting involved;

1 - Participate in consultation events.
2 - Collaborate - get involved in research
3 - Control the research by selective funding
4 - Control the research by becoming a member of a steering committee.

Dr Nair concluded by describing a research programme which he is currently seeking funding for. He wants to look at the use of FES in the community. Most FES research has been done in the lab and Dr Nair wants to look how it works for users in normal day to day use. He plans to measure walking, falls, quality of life etc. at the beginning, then give either FES or an AFO for 12 weeks, re-measure, switch treatment for a further 12 weeks, measure again and understand what people prefer. The study will take place in Sheffield and Salisbury. He will contact the HSP support group when funding is secured. He will be seeking participants.

Although Dr Nairs presentation had the least notes it gave me the most questions. Regular readers will know I've been identifying the number of research papers and I get a much larger number from one database. I noted that Dr Nair used the word paraperisis all the time and my search covers this and paraplegia. I didn't get a chance to chat to Dr Nair about this after his presentation.

In writing this post I was thinking about the involvement strategies, and was looking up about consultation events since I understood this the least. A quick search found that RareDiseaseUK have recently completed a consultation event about rare disease policy in the UK. http://www.raredisease.org.uk. Firstly this consultation closed May 2012, so I'm disappointed not to have found and responded. However the response document and other supporting stuff on the website is good, and these will form another blog post or two, and another organisation to join.

The main supporting report is here: http://www.raredisease.org.uk/documents/Website%20Documents%20/rare-disease-impact-report.pdf  There is also a report into the perception of funding:  http://www.raredisease.org.uk/documents/RDUK-Research-Funding-Report.pdf 

I could picture the other involvement strategies more in my head and I'll cover those on another post or three.

AGM2013: Getting the Correct Diagnosis (Prof Henry Houlden)

This is the second post covering the presentations given at the UK HSP Support Group AGM on 15th June.

Prof. Henry Houlden works at the National Hospital and gave an overview of HSP and the 'typical' case which he and his colleagues see at the hospital. He then went on to discuss various treatments and some current research, and finished with some observations about drugs.

There are two types of HSP - Pure and Complex. With pure HSP the three main areas to cover are legs, bladder and back pain. Requests for amputation of the legs is not uncommon and most patients have some bladder issues. Bowel issues are very common as well as bladder issues. With complex HSP a range of other issues also arise including Ataxia (affecting the balance), memory, seizures and deafness. HSP is caused by an error in the genes.

Generally HSP is passed down from the parents although occasionally HSP arises without any family history, which is called a "de novo" gene mutation. There are three different inheritance patterns - Dominant, where the presence of the mutation gives rise to the condition (most commonly SPG4, SPG3A and SPG31), Recessive, where the mutation is needed in both parents to give rise to symptoms (most commonly SPG11) and the rareest X-linked  inheritance. If you know which type of HSP you have you can predict potential problems in the future.

People have varying reasons for choosing to have a genetic test following a clinical diagnosis, and there are pro's and con's. Having the test can confirm the diagnosis, and can inform treatment, aid new research and examine the risk to other family members. The current cost of a genetic test is about £500.

The typical patient seen in the Neurogenetics Clinic (on Friday afternoons) had some onset in their 20's, usually tripping or scuffing. When they look back they realise they had some difficulties in sports at school, they may have some weakness due to the stiffness and it has taken some 10-12 years to end up with the correct diagnosis.

[Note added 19th July - Prof Houlden said that he would rather patients with HSP came to visit him wearing old shoes rather than new, so that he can see how much and where they are worn]

Treatments include: Physio on the legs and orthotics, Prescription of Baclofen, Self catheterisation, The use of high walking sticks, new hips and knees. Prof Houlden covered each briefly (excpet Physio, covered later in the day).

Baclofen can make you tired, and there are alternative medicines which you could use, but each has its side effects.

If there are bladder issues, then the first step is to treat underlying problems first, e.g. prostate. Bladder problems with HSP will not go away. There is also medication that can be prescribed to help, including Detrusitol, again with side effects.

The use of high sticks, like norwegian walking poles, can be a help because they keep the body more erect and they open the body up. The use of walking aids was discussed, and the view is that using walking aids is not the start of the "slippery slope" towards a wheelchair. The majority of patients who use walking aids wished they started using them earlier.  The patients who progress the best are those who keep themselves active, using their aids and get out and about. The patients who progress the worst are those who sit at home all day and do nothing.

Having replacement joints is an option, and the suggestion is that hips would be replaced before knees, there being a longer rehabilitation period for knee replacement for patients with HSP.

Prof Houlden had recently been to the International 2013 conference on spinocerebellar degenerations at the European SPATAX (http://spatax.wordpress.com/) where there are groups of researchers looking for HSP patients for trials. [There is a questionaire, which I'll try to attach to a future post, but the questions are at the bottom here]

There are no drugs that can reverse or halt the condition, but there's some movement on stem cell research, trying to reprogram stem cells into neurons, and then getting these to go to the affected cells. The reprogramming is possible, but no-one knows how to make them go to the affected cells.

Cannabis would be a helpful drug for HSP, as would Sativex (a cannabinoid medicine for the treatment of spasticity due to multiple sclerosis), but this is not licenced for HSP.

A discussion ensued about Botox, with some members of the audience finding it useful.

Some patients benefit from a Baclofen pump.

HSP is perfect for FES because all the nerves in the legs are intact.

I found this presentation very useful as it confirms much of the stuff I've been blogging about over the last couple of years. I wasnt aware that dogs could get HSP, but it seems they can. Of most use for me was the discussion about mobility aids, with potential for many blog posts about this. I'm also interested to hear about bowel problems, as I've not seen anything about that in the research papers or many of the websites I've looked at so far, which seems odd if it is such a common symptom.

HSP Questionnaire questions (with some minor abbreviation):

Name, date of birth, sex, address, phone number
Are you affected by HSP? Y/N
Would you be interested in participating in a research project? Y/N
Do you know the type of HSP you have or the gene? (please give details)
What age did you first have symptoms and what were they?
Please give details of any problems you have with your:
1) Legs (stiffness, walking problems, ulcers)
2) Hands (weakness, wasting, numbness, gripping, writing, doing buttons up, cramps, pain, ulcers)
3) Memory, eyesight, hearing, face weakness, passing water, bowels, breathing problems, other problems
Draw a family tree with dates of birth and details of who suffers from HSP

All information is kept confidentially and they only request details you are willing to give.

Responses should be sent to Professor Henry Houlden, Institute of Neurology, Queen Square, London, WC1N 3BG.

http://www.ucl.ac.uk/ion/nationalhospital

AGM2013: Looking After Yourself (Liz Redmond)

Here is the first of four posts covering the presentations given at the UK HSP Support Group AGM on 15th June.

Liz Redmond is a neurogenetics nurse at the National Hospital and gave the first presentation of the day titled  Looking After Yourself. Her presentation discussed trying to maintain a positive mental wellbeing.

Changes in mood can end up in a vicious circle. A low mood can give rise to poor motivation. Poor motivation can give rise to low self esteem. Low self esteem can give rise to low mood. 80% of people with chronic disease suffer from low mood at some point. Symptoms of low mood can include fatigue (being tired, lack of energy etc.) and anhedonia (a lack of interest in something you would normally be interested in). Feeling low for a few days may be OK but Liz advised that if you're finding yourself low for a period of weeks then its time to seek help, your GP or a specialist.

To look after your mental health you need to be mentally active. Things which you can do include:

• Make an effort to plan your time
• Plan a treat into your day
• Make time to spend with friends/family
• Recognise situations that upset you (and have strategies to deal with these).

One technique which you can use is CBT (cognitive behavioural therapy) which helps with identifying actions/strategies for dealing with these situations which upset you. Essentially it seeks to identify what it is that upsets you, to then look at that issue from other alternatives, and then to prepare appropriate responses to help you regain control of the situation.

Liz mentioned some web-based CBT software

Beating the Blues: http://www.beatingtheblues.co.uk/

Mood Gym: https://moodgym.anu.edu.au/welcome

There are also other ways which you can raise your mood: 

Exercise - Exercise increases the levels of serotonin in the body. Undertaking exercise gives you time to monitor your thoughts, can help you relax and be part of a daily structure. For those with HSP stretching is a good exercise to try, and Liz suggested focussing on the muscles that you are using in stretches.

Positive Role Models - Thinking about someone who inspires you (whether famous or not) can give you an alternative viewpoint. You could consider what you can learn from them, how do you think they would behave in the situation, how could you do things differently to be more like them (etc.)

Social Life - Having a social life is very important. You should make time to spend with friends. People with low mood tend to reduce their social circle. If you end up like this for a while then your friends get used to you not being around and it is harder to get back to where you were. Liz advised to fight hard against this and make time. It is important to have friends around you. One step further would be to make new friends or try a new hobby.

Setting Goals - setting yourself a goal can be good, but they must be "Smart". I'll use weight loss as an example:

• Specific - i.e. "I will lose weight" rather than "I will be more healthy"
• Measurable - i.e. "I will lose 1 stone" rather than "I will lose some weight"
• Attainable - this is about setting a realistic target (which in this example would depend how overweight you were to start with)
• Relevant - make sure the goal you set is worthwhile
• Time-bound - You to set a realistic timeframe over which you plan to do this.

You can read up on smart objectives elsewhere (e.g. http://en.wikipedia.org/wiki/SMART_criteria) If your target is to, for example, lose 5 stone in weight then it would probably be better to set yourself a separate goal for each stone of weight, and there is nothing wrong at all with reviewing and adjusting your goal as you progress. (non UK readers - 1 stone = 14lb = 6.35kg)

Complimentary medicine - massage, aromatherapy, acupuncture, pressure point therapy (etc.) can all make you feel better about yourself, and for those of us with HSP there may also be some muscle relief as well.

Liz's presentation concluded with an overview of fatigue - factors which can affect fatigue include: changes in sleep patterns, medication, mood, excercise. If you find that you suffer from fatigue then it becomes important to plan and to conserve energy - so plan to have a rest if you need to, prioritise your activities accordingly, organise your work/home so that it is easier to do things and check your posture.

Those with HSP could try looking at the expert patient programme: http://www.expertpatients.co.uk/ which provides tools and techniques to help people manage long term health conditions.

The one line which I took away as being most useful was Liz's comment when talking about social life that the first four minutes of any interaction are the most important. These first four minutes set the mood, so people should make an effort to be really positive and lift the mood. After four minutes the agendas of the other people will kick in and the mood has been set. If people find this hard then they should take a few moments before entering a situation to prepare themselves. This applies to home, work, social activities, meetings (etc.)

I also observed doing exercise and stretches whilst concentrating on the muscles which are being used is exactly what we do at Pilates. I've not had a chance to look at any of the CBT software or the expert patient programme yet. (and therein lies potential for some future posts!)

Low mood is effectively another word for depression, and I've previously blogged that many people with HSP have mild depression. http://hspjourney.blogspot.co.uk/2011/09/depression.html  

UK HSP Support group 2013 AGM

Yesterday I went to the AGM of the UK HSP support group in Warwickshire. After the AGM there were 4 presentations by different specialists, and I'll write separate posts about those another day. This post is about the day and my observations.

I found the day very interesting and enjoyable. It was good to meet group members and chat about the various issues coming up from the presentations during lunch and coffee breaks. From an observational point of view whilst there was a great spread in the amount that the condition affects the people there (and a corresponding array of walking aids and wheelchairs) everyone seemed friendly, open and happy to talk.

The AGM itself was brief. One observation was that different members had been asking for meetings in their local area, and the comment was made that two people meeting in the pub would be a meeting, and that people shouldn't be afraid of attempting to organise a meeting themselves. The group would be able to provide support. This made me think that there is no reason why this couldn't happen anywhere in the world. Whilst part of the meeting is about the presentations another part is about networking (talking to people) and I think that the balance between these was about right.

In addition to the presentations Physio Function (http://www.physiofunction.co.uk/default.asp) were there with a number of different FES systems which people could have a go with.

Conclusions: its meetings like this which demonstrate the real benefit of the support group. Attendees get first hand direct relevant information from professionals who work with HSP and the chance to meet and socialise with others who are in the same boat.