AGM2017: Living with the enemy - Robin Paijmans

The last presentation at the AGM was called Living With The Enemy: Psychology of Chronic Conditions, by Robin Paijmans. Robin is a psychologist looking at human behaviour, and how changes in behaviour affect life.

With chronic conditions there are both physical changes and mental changes. There are often different tools which can help to cope with the physical changes, however the issues around changes in mental are that these require a change in the way that we think. With chronic conditions there are three questions:
How do I cope?
How does my family cope?
How do professionals cope.

Robin observes that medical professionals are oftem compulsive problem solvers, they want to fix things, and often with chronic conditions there are no cures or solutions, which presents a problem for the problem solver.

Generally, people deal with problems either by moving towards the problem or moving themselves away from the problem - the approach/avoid.

When we visit healthcare professionals we ask questions like: Will they know about my condition? Can I trust what they say? Will they help me? Are they behaving appropriately (listening/giving attention/etc.)?

The healthcare professional may have questions of their own: Will the patient know how I feel? What will I do? What if I dont know what to do?

Robin then described a "brain hack" which people may be able to use at times that they are not feeling happy. It is a mindfulness technique. I'll write the points as a list of bullets:

• Pick something which is worrying you
• Choose a number between 1 and 10 to represent how much this worries you (1 is perfectly OK)
• Imagine the issue as an object in the room/space that you are in. Think how it looks:
• What colour is it?
• What shape is it?
• What size is it?
• What texture does it have? (e.g. rough/smooth)
• What temperature is it?
• How heavy is it?
• Where is it in the room/space that you are in?
• Now imagine moving the object to a place outside the room/space.
• Now imagine moving it a couple of miles away.
• Choose a number between 1 and 10 to represent how much this worries you (1 is perfectly OK)

The second number should be smaller than the first number, and you have mentally shrunk the problem.

Note - if you cannot mentally move the object away from you then try changing its colour/size/weight/texture instead.

Robin discussed values, in that these values are a compass heading to guide you towards things that you want to do/achieve/have. The values themselves are not the destination. However, some things that we do to move away from discomfort can also move us away from our values. Once you have identified your values and being working towards them this can give you the strength to face threats. There are lots of things which we can do every day to reinforce our values.

Robin mentioned two books:

Feel the fear and do it anyway by Susan Jeffers (https://www.amazon.co.uk/Feel-Fear-Anyway-Indecision-Confidence/dp/0091907071)

Living with the enemy by Ray Owen (https://www.amazon.co.uk/Living-Enemy-chronic-mindfulness-acceptance/dp/0415521203)

I've ordered the second one from my library. I'll post a review when I've read it!

AGM217: Update to PARCC study - Prof Jon Marsden

Prof Jon Marsden gave a brief update on happenings with the Physical Activity in Rare Conditions Collaboration (PARCC) study.

Readers can read my blog post on the initial meeting back in Janurary 2017 here: http://hspjourney.blogspot.co.uk/2017/02/physical-activity-in-rare-conditions.html. Jon said that the group comprised Huntingtons Disease (HD), Spinocerebellar Ataxia (SCA),  Muscular Dystrophy (MD). Progressive Supranuclear Palsy (PSP) and, of course, HSP.

The researchers leading the work are experts within these conditions and associated symptom relief (e.g. physiotherapy). There are many similarities in the the symptoms of these conditions, and the approach is to develop an approach which works on these symptoms.

They are aiming to use the various support groups to map the different practices, working out what is done and how it is done. They are investigating potential physical activity rehabilitation options to deliver outcomes, working out how they will measure those outcomes, and working out how they would implement those options.

Jon referred to Rachel Chapmans falls study, wondering if they could look at walking style to reduce the risk of falls. It might be possible within the PARCC remit, or it may be for a different study.
  

AGM2017: HSP Falls Study Results - Rebecca Chapman

Rebecca is completing her dissertation at Plymouth University, looking at the characteristics of falls and predictors of falls in HSP. She gave us an overview of the results obtained so far.

Rebecca outlined her approach - One of the main problems identified by a patient group l;ast year was falls. This a self-reported study, i.e. participants in the study report things that occur to them rather than being quizzed about things. The study is a two stage approach. Participants firstly describe details about themselves and recall any falls that have happened in the past, and for the following three months participants record falls and send details in to Rebecca. These stages are the retrospective stage and the prospective stage. Rebecca had feedback on the approach through the HSP group meetings in Ashburton, Devon.

There was an initial trial with 5 participants, and the members of the group were recruited to take part. There were around 70 who expressed an interest, with 59 participants in the retrospective study and (at the time) 47 completing the propspective study. Rebecca gave us details looking at the results of the retrospective study.

The balance was 28 female and 31 male, with an average age of 60 (standard deviation 14 years). On average participants had had HSP for 25 years (standard deviation 17 years).  15 participants have SPG4 and 7 have SPG7

Two thirds of people have fallen at least once, and just over half of people had fallen more than once (32 people). On overage there have been 2 falls per person. 86% of falls have occurred indoors, but Rebecca didnt look at the proportion of time spent indoors and outdoors. Of the indoor falls 21 were unable to get up unaided. 2/3 of people got a family member to help them up, 1/6 of people used someone external to help them up, and 1/6 used both family members and external help. Of those using external help 3 called a paramedic to help them get up.

Around two thirds (64%) have injured themselves with falls. Whilst most injuries are mild, and most are on the hip, around half injured themselves in multiple locations.

Rebecca looked at the data given by participants to examine possible predictors of falls, with the most likely ones being age and use of crutches. Most participants were aged between 55 and 65 with an average age of HSP onset of 40 - i.e. there has been some mobility impairment due to HSP.

It is known that some medication makes people drowsy. There was an average of 4 medications per person. The results were that this is a possible predictor, but were not statistically significant.

Co-ordination was also examined, as participants are frequently need to use their arms to help sit/stand, but again, these results were not statistically significant.

Looking further at the detail, falls indoors were often associated with everyday activities - cleaning and using the stairs. People on crutches tended to be more mobile than others, and younger.

Looking at the future, issues could be helping people to develop a falls strategy, giving both patients and family members falls training, and investigating falls aids. Rebecca mentioned paraladders (I cant find a good UK website - here is one from the US http://www.beachwheelchair.com/paraladder.htm - there are also various youtube videos of people using this).

How does this study help?
* It provides evidence of falls with HSP, and the report should open access to existing therapies
* It sets out a strategy for improvements and training to reduce the risk of falls (i.e. to stop falls happening in the first place)
* It helps people look at changes they can make - perhaps balance training or modifying doses of medications to alter the balance between stiffness and the number of falls
* It gives evidence that people need to be taught how to get up, or aids to help themselves to get up.

Rebecca noted that the average NHS charge for an ambulance is £1200, so giving aids or teaching for people to get themselves up, which would reduce the number of ambulances going to help people, could be a cost effective for the NHS.

AGM2017: Current HSP Research - Prof Andrew Crosby

Professor Andrew Crosby gave a presentation on current HSP research.

He began by giving an overview of some of the HSP characteristics. HSP is described as being "heterogeneous" - but what does this mean? Simply, it means "variable", genetically in this context. There are 73 different HSP genes identified, of which about 40 have been confirmed in follow up studies covering several families. Prof Crosby speculates that there will be hundreds of HSP genes in the end. There is also variability within one variation - he mentioned Silver Syndrome (also known as SPG17, which inherits dominantly) which he described as HSP plus hand muscle wasting. First symptoms are usually observed in teenagers. One example mentioned had a parent who was normal at 48, but it is not known why.

Background information: Our genes are responsible for producing proteins which have jobs to do in our body. The proteins are made from the DNA in our genes, although they have to go through several steps to do this. Should a gene be faulty there may be a problem with the proteins that are produced. Neurological conditions are often referred to as "upper" where the brain and/or spinal cord are affected, or "lower" when the nerves between the spine and the muscles are affected. Some motor neuron diseases may affect the upper, lower or both sections. HSP is a motor neuron disease.

By considering all motor neuron diseases together provides a bigger family of conditions and knowledge of one genetic alteration may help all motor neuron diseases, and the more confident researchers can be of finding a genetic route for changes.

Prof Crosby described the Amish community, who live in the Pennsylvania and Ohio/Indiana areas of the USA. They originated from the Swiss/German borders and two waves of migration happened, in 1737 and 1815. The Amish population keep good genealogical records and tend to marry within the existing communities. There are 4 types of HSP in the Amish which are not found elsewhere. Given the records they can trace the current population back to the original migrants, and one person out of a couple carried a recessive form of HSP. SPG20 is one of the types found in the Amish. In this type one C in the DNA becomes an A, the result of which is that no protein is made.

There are 13 HSP genes which are known to feature in at least one other condition. Drugs for other conditions with similar nerve problems could be looked at for treatment trials.

The work that Prof Crosby is doing at Exeter is to try to develop a blood test for HSP. Such a test may be able to prevent other clinical tests being done. If a test can identify a gene which is different then this can give information on: what has gone wrong, opportunities to improve the molecule, and help to develop a treatment.

Although HSP is a neurological condition there is a biochemical process. In order to develop a blood test it is a question of identifying the pathways that are affected. Such a blood test would look for biochemical signals and, if successful, may be able to test whether people might develop HSP.

The issue with genetic testing is that some parts of DNA are more susceptible to change than other parts. Genetic tests on two people with the same genetic mutation would not, for example, prove that they are related to each other (they may be related some generations back). Tests will show a number of changes, but it is not always clear which change gives rise to HSP. With analysis of family trees this can help, and if a genetic change is identified to cause HSP with certainty, then this can be added to an HSP panel test.

The Caucasian population has been studied more than other populations and so there is more certainty on which genes cause which conditions. Genetic tests from people from other backgrounds are more difficult to interpret as there is less data available.