Sunday, 13 August 2017

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.



Friday, 4 August 2017

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.

Saturday, 22 July 2017

AGM2017: Overview of Genetics Service - Dr Nicola Cooper

Dr Cooper gave an overview of the genetics service offered at Birmingham Women's and Children's Hospital, although much of what she said is good relevant information. She began outlining that one in 17 of the population are likely to have a rare condition in their lifetime, and genetic testing can help to identify the cause and progression of such diseases.

There are four main aspects of the care that they give:
1) Giving information on what genetic testing is - how it can (with a definitive result) be used to guide treatment and give an assessment on potential outlooks on life, and can give information on if things are/can be passed to children and the level of risks for different aspects and provide information for the family.

2) Outlining the different choices available - there are tests for individuals, and tests can be done on children and during pregnancy.

3) Providing support for the while family - the results of a test can affect more than just the person being tested.

4) Help families make the choices that are right for them.

In the wider sense diagnoses can be made in a number of different ways. The persons family tree can be examined, there can be a number of physical examinations or investigations, and sometimes there is a genetic test available.

There are three types of genetic inheritance, and there are examples in HSP of all three types. Each gene that person has is a pair of genes, one from their father and one from their mother.

If a condition is 'dominant' then the gene for that condition needs only to be in one of those pairs for the person to have that condition. (SPG4 has dominant inheritance). With dominant conditions there are no skipped generation and each child has a 50/50 chance of inheriting from their affected parent.

If a condition is recessive, then the person needs to have inherited the gene from both parents. (SPG11 has recessive inheritance). If a person has one copy of the recessive gene then they are a 'carrier' of the condition but are not affected by it. Recessive conditions can skip generations as people can be carriers. If both parents are carriers then the chance of a child being affected by the condition is 1 in 4.

Lastly X-linked inheritance where the gene for the condition is on the X chromosome. These generally affects males as they only have one copy of the X gene, being XY). Females are XX, and are usually unaffected by the condition but can carry it. (SPG1 has X-linked inheritance).

Further to inheriting genes from our parents there will also be some genetic changes within us. Dr Cooper said that each person has around 60 genetic changes which are not in either parent. Such changes could lead to HSP with any form of inheritance.

Dr Cooper then went on to talk about diagnostic testing. This can be used for a person affected by a condition. The testing can firstly identify what the condition is, and then hat type it is. Predictive testing can similarly be undertaken for unaffected relatives. Having a test can help with planning, career choices, life decisions and that kind of thing.

With predictive testing there will always be  a look at personal history. This will help understand the personal circumstances for the person and level of support that they would have. One of the biggest factors is that having a test changes perspectives - you move from "might have" a condition to "will have" a condition. Part of the personal history is getting a feel for how this might affect someone psychologically. Having a result can be beneficial in terms of planning for the future, but could also have a disadvantage in that you may have to declare that you have a condition when applying for a mortgage, for example. She noted that a clinical examination is always a snapshot of a person, it cannot tell you how you will be in the future.

Dr Cooper described two different types of genetic testing. Until relatively recently genetic tests were done using "Sanger Sequencing" which looks at one gene at a time. Now such test are done with New Generation Sequencing (NGS), where a panel of different genes are looked at simultaneously. Gene panels tend to have ~40 different genes in them.

One issue with panel tests is that interpeting the results can be difficult to do. Some of the results back are not clear. Other results may come back showing changes, but it is not always clear that those changes are giving rise to the effects being observed. Some people are affected by more than one rare condition, and it may be difficult to identify what is going on from panel test result, especially if some of those conditions are similar. The age of onset and rate of progression of HSP have influences from other factors. Some of these factors will be genetic and others will be environmental.

Dr Cooper described genetic changes as being like a key. The genetic change can happen at any place in the gene and the effect of the change depends on where it happens. If we liken a gene to a key, then if the change occurs in the part of the key which you hold then the key will still open the lock perfectly. Some change may be small, and that might be like a slightly wrong key which you can get to open the lock by giving it a bit of a wiggle - and that all might be OK. When the change is bigger or occurs in the blade of the key then the lock may not be operable with that key.

If you are in the UK and do not have a genetic test result for HSP then you may be eligible for the 100,000 Genome Project. Talk to your neurologist!

 

Thursday, 6 July 2017

Chair of UK HSP Support Group

At the weekend I went to the UK HSP Support Group AGM in Birmingham. This means that I've my next few posts covered with reporting the different presentations that were made there.

The AGM was at a new venue this year, and I think that it worked really well, meeting the needs of the group. The turnout was great with nearly 100 people there, so getting on for a fair proportion of the membership. The AGM followed the usual format with a number of speakers (4 this time) and some time for members to chat amongst themselves, over lunch and between talks.

At the AGM Ian Bennett stood down as Chair of the group, and in discussions with Ian over previous months I had put myself forward as Chair. There were no other people who put themselves forward, so I was elected as the new Chair of the group. I'm just getting my head round my new role and responsibilities at the moment, but I'm intending to follow Ian's excellent work, and my initial aims for the group are:

  • Promote the groups activities, 
  • Listen to ideas from members,
  • Follow the groups our charitable objectives

If anyone has any ideas about what the group should be doing, I'm happy for people to post here, drop me a message or leave a comment on our faceboook group (https://www.facebook.com/groups/19469684343/) or page (https://www.facebook.com/hspgroup.org/)

Tuesday, 27 June 2017

The 2017 Potato Pants Festival

Its only a few days to go till the 2017 HSP Support Group AGM, which is on Sat 1st July. You can see details of that here: http://hspgroup.org/index.php/meetings/68-saturday-1st-july-2017-annual-general-meeting-tally-ho-conference-banqueting-centre-pershore-road-birmingham-b5-7rn

This post is, however, about the 2017 Potato Pants Festival, which was on Sat 3rd June. I went there with my family, and it was really good fun. Actually I was there with my extended family as the festival was in the area where my wife's family live, so actually there were a fair few of us there.

The event was organised by Ian Bennett, chair of the Support Group, following various conversations he'd had with others about this. 2017 was the second year of the festival, and it felt like a well organised friendly affair. My kids spent most of the afternoon on the bouncy castles, whilst the rest of us sat on the grass listening to the music and having a good look around. The bands were playing in a big tent and there were plenty of people listening and then dancing.

During the changeover between the bands there were the now infamous potato pants races, where up to six people put on specially made trousers, loaded up with 10 potatoes down each leg. The race was a simple "run to that crate and back again" race, so a distance of about 50m. Why? The concept comes from a discussion Lori Renna Linton had with her daughter. You can watch her story in one of the links below. This conversation set off a chain of activities, and the potato pants festival is a descendant of this idea!

At the festival there were also a few stalls selling things, a bar, an ice cream stall, a hot dog/burger outlet, a few other games and events for people to take part in, and people were also free to roam around the farm.

I thought that the event was great. The music was really good, all the people were really friendly, and its a really nice way of raising awareness about HSP.

Of course, its not just about the fun, the event was to raise money, so there were lots of volunteers helping on the day, and I hope to find out at the AGM how much was raised for the charity. I'm looking forward to next year!

Some links about the festival:
Review 1: http://www.gigsandbands.com/potato-pants-festival-2017-review/ (with loads of pics)
Music 1: https://www.youtube.com/watch?v=cEHhorCYeM8&t=16s
Music 2: https://www.youtube.com/watch?v=-LH187HkZIc&t=1s

The original potato pants story: https://www.youtube.com/watch?v=56XdjtrpZlo&amp
Where else the idea is going: https://www.youtube.com/watch?v=ppJcPnPlpu0

 


Wednesday, 7 June 2017

Report: Juggling care and daily life

I take part in rare barometer voices surveys (http://www.eurordis.org/voices#studies). Recently the questionnaire was about balancing the different aspects of life with a rare disease. You can read the full report here: http://download.eurordis.org.s3.amazonaws.com/rbv/2017_05_09_Social%20survey%20leaflet%20final.pdf

Over 3000 people from across Europe responded to the survey, with a range of rare conditions, so the results are not HSP specific. My key takeaway points are:


Issues with daily activities:


  • More than 70% consider that they have difficulty with daily activities and tasks and that the disease impacts their motor and sensorial functioning;
  • More than 50% mention that their social life and their ability to cope with personal care activities is impacted by the disease, as well as their ability to control general behaviour and to take care of their finances;
  • More than 40% also have difficulty with understanding, learning and communicating with others.

Impact on daily life:

  • 85% of respondents says that the disease impacts upon several aspects of the health and everyday life
  • 42% spend more than 2 hours a day on care-related tasks.
  • A significant percentage of carers are providing intense caring: 30% spend more than 6 hours a day helping the patient

Rare disease information:

  • 75% of respondents declare that; finding necessary information on the disease, finding the right professionals, arranging and attending appointments with different service providers, and travelling to and from appointments, is time-consuming, and 64% of respondents consider that it is difficult to manage.
  • 75% of respondents consider that the level of knowledge among social workers, teachers and care givers is deficient because the diseases are rare and the situations very specific and complex.  Professionals do not seem sensitised to general issues that surround rare diseases, such as the difficulty to get a diagnosis or the number of care providers that can be involved in the management of a single disease.


Employment:

  • 46% of People affected by a rare disease remain employed - working whilst caring or when affected by a rare disease represents a major challenge. 
  • 76% of the respondents declare that the fact they are affected by a rare disease has limited their professional choices; 67% also declare that the disease has limited them in being promoted.

Social impacts:

  • 54% declare that isolation from friends and family was caused or amplified by the rare disease.
  • More than half of the participants (52%) report that the disease triggered tensions between family members. 
  • In contrast, 45% declare that the rare disease has strengthened the family unit.
  • 37% of the respondents declare that they feel often (19%) or very often (18%) unhappy and depressed, compare to 11% of the general population.
 

Friday, 12 May 2017

Shoe wear update - data!

I've just, in the last month or so got both new trainers and new shoes, which means that I now have my first set of shoe wear data, co-incidentally two pairs at the same time.

My shoes lasted 2 years 2 months From Oct-2014 through to Dec-2016 (they were basically worn out by Christmas 2016, but I dragged another couple of months use out of them, getting the new pair in April 2017).

My trainers lasted about a year less, one year and three months from Jan 2016 through to April 2017 (with the new pair in May 2017).

In both cases, you can see that my left shoe is substantially more worn than my right shoe. (of course, we're looking at them from your perspective, so my left shoe appears on the right of the photo!)

Shoes:















The main problem for my shoes (which is not too surprising) is that they let water in when the ground was wet.

Trainers















The main problem for my trainers is that the sole on the left shoe was becoming unstuck, and would occasionally fold back under the shoe if my foot passed close to the ground. You can see that the soles of my trainers are considerably more worn that the soles of my shoes, and this is because I wear my trainers whilst riding my bike.

I was more dissappointed with the rate of wear on my Diadora trainers than with the wear on my shoes. Clearly the bike wears them out quite quickly, and whilst I didnt perceive wearing the trainers much other than for cycling, the wear on the tips suggests that this is not the case! I've gone cheap for my next pair, with Boston Athletics.

I think that my shoes (which were Sketchers) fared much better - these are the shoes that get most of the wear and tear, and I've worn out and about in most environments (woods, trees, rocks, beaches, . My replacement shoes are also Sketchers.

The only shoes that have not yet entered the logging system are the shoes that I wear at work - I have two pairs of those and they aren't going anywhere soon. I also have two pairs of boots for walking, but they get used once in a blue moon and would feature here way after my work shoes.

Sunday, 7 May 2017

HSP affecting Quality of Life

Study of HSP
I found a research paper from 2016 which looks at the differences between people with HSP and a control population to evaluate the burden of HSP. The study was undertaken in Norway, comparing 108 people over 30 yrs old with HSP against an age and gender matched sample from a study of 46 thousand people. 

The paper is called “Health survey of adults with hereditary spastic paraparesis compared to population study controls”, by Krister W. Fjermestad, Øivind J. Kanavin, Eva E. Næss, Lise B. Hoxmark and Grete Hummelvoll. You can read the full paper here: https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0469-0. I've taken my highlights from the paper and repeated below.

The study is a broad survey of health and everyday life domains among persons with HSP, including life satisfaction, mental wellbeing, social support, problems with sleep, memory, pain, gastrointestinal/urinary functioning, and ability to perform activities of daily living (ADL). 

The HSP sample more frequently lived alone. Overall, the HSP sample reported lower life satisfaction, lower mental wellbeing and lower social support, as well as poorer memory and sleep, compared to controls. Furthermore, the HSP sample more frequently reported musculoskeletal pain, constipation, and urinary incontinence compared to controls. There was no difference between samples in frequency of physical activity and alcohol and tobacco use. Men with HSP reported higher impact of HSP, lower life satisfaction, and less ability to perform activities of daily living compared to women with HSP.

Adults with HSP experience disease burden on a larger number of areas than previously documented, and men with HSP may represent a particularly vulnerable group.

Results

All of the comparisons in this section are with the control sample.

Participants in the HSP sample less frequently lived with a partner/spouse and more frequently lived alone. There was no difference between the samples in frequency of living with parents or children.

Sleep
Study considers daytime drowsiness, frequent night awakenings, trouble falling asleep and waking up early. People with HSP reported more sleep problems on all items

Pain
Study considers chronic pain of >3 months duration in the past year. The most frequent pain sites are: feet, knees, lower back, and hips. People with HSP confirmed more frequent musculoskeletal pain, more frequent pain in the lower body pain sites and less frequent pain in the upper body pain sites.

Comorbid disease prevalence
The most frequently reported diseases were mental health problems, osteoarthritis, hand eczema, psoriasis, asthma and brain hemorrhage. People with HSP more frequently reported brain hemorrhage and psoriasis.

Gastrointestinal problems
The study considered constipation, alternating constipation and diarrhea, bloating,  heartburn, diarrhea, nausea and fecal incontinence. People with HSP more frequently reported much problems on alternating constipation and diarrhea, constipation and fecal incontinence.

Urinary problems
The study considered urinary incontinence. People with HSP more frequently reported urinary incontinence 

Oral health
There was no difference in oral health but people with HSP reported more frequent dental visits during the last year compared to controls.

Physical activity
Study considered the frequency of physical activity (daily, 2–3 times pr. week, once a week, less than once a week and never). There is no difference in frequency. Those with HSP spent more hours sitting daily compared to controls.

Medication use
The study considers the percentage of participants taking nonprescription medicines 1–3 times weekly: for general pain, constipation, headache and heartburn. People with HSP more frequently reported taking medication for constipation and general pain. Otherwise no difference.

Alcohol and tobacco use
There was no difference for participants drinking alcohol at least 2–3 times pr. week, never drinking alcohol and smoking daily.

Social support
The study looked at the percentage of participants who confirmed practical support and emotional support. those with HSP reported lower practical support and emotional support.

Mobility and activities of daily living
In terms of mobility, 35 % reported to walk without aids outdoors, while 56 % reported to walk without aids indoors. Around a third (31 %) reported to use a wheelchair indoors, while 45 % reported to use a wheelchair outdoors. The majority (80 %) confirmed having a driver’s license. 

Men reported more activities they could not perform without assistance compared to women. Fisher’s exact tests showed that the two activities men reported to be able to perform less frequently compared to women were simple household chores and laundry.

Frequency of falling
In the HSP sample, 47 % reported to have fallen in the last 3 months. There was no gender difference in frequency of falling and no significant age difference between those who confirmed having fallen and those who did not.

HSP sample medication use
In the HSP sample, 15 % reported using Botox injections, 10 % reported using a baclofen pump, and 33 % reported taking oral spasmolytics. Of these, the percentages of participants reporting having some or large effect of the medication were 83 % for Botox, 86 % for baclofen pump, and 82 % for oral spasmolytics.

Gender differences within the HSP sample
There were no significant gender differences on any of the variables shown in Table 2, except overall life satisfaction. Males rated significantly lower life satisfaction compared to females

Pure versus complex HSP
There was no difference between the proxy pure/complex types in terms of age, total body impact, pain, mental well-being, memory, gastrointestinal/urinary problems, number of additional diseases, BMI, or physical activity.

Discussion

Compared to controls, persons with HSP reported lower scores on life satisfaction, mental wellbeing, as well as perceived practical and emotional support. Furthermore, compared to controls, persons with HSP reported more problems with memory, sleep, gastrointestinal and urinary function, and pain in the lower body. The results showed persons with HSP experience large total physical impact of their disorder. This total impact was significantly correlated with age, mental wellbeing, memory problems, gastrointestinal problems, extent of pain, number of co-morbid diseases, and life satisfaction. Thus, the disease burden for adults with HSP is multifaceted, and involves problem areas not previously documented.

Our results also showed considerable impact on activities of daily living for persons with HSP. Over half the sample reported not being able to take the bus, and nearly half the sample reported not being able to do more than basic house chores. They were surprised to find that age was only correlated with total physical impact and ability to perform ADL, and not with any other health-related variable. This implies that the burden of disease experienced by adults with HSP is considerable across the lifespan. Importantly, older participants reported less practical support compared to younger participants, possibly indicating a particular need for the older HSP group.


There are some important gender differences within the HSP sample. Specifically, men reported significantly higher overall impact of HSP, higher impact on sexual function, more ADL they could not perform without assistance, and lower overall life satisfaction compared to women with HSP. In summary, the results indicate that men with HSP represent a particularly vulnerable group in terms of overall HSP impact and quality of life.

Saturday, 29 April 2017

HSP Falls Study Participation

Here is another HSP research study that you can take part in.

Researchers at Plymouth University (in the UK) are studying more about how many people with HSP fall and what causes the fall. Understanding more about falls will help to raise the awareness of the condition with other healthcare professionals, determine what interventions may be useful and drive future research.

There is an initial questionnaire gathering information about participants and any falls that they may have had in the last three months. The second part of the study records any falls over a three month period. The study is titled "Falls in Hereditary Spastic Paraparesis: An Observational study of falls characteristics and predictors of falls and long lies" They define a long lie as when someone is unable to get up off the floor for an hour or more.

The study aims to survey as many people with Hereditary Spastic Paraparesis whether or not they commonly fall. It aims to identify how frequently people with Hereditary Spastic Paraparesis fall and to describe the characteristics of falls such as where people fall and what were they doing at the time. The survey will also assess whether there is a relationship between people’s reported symptoms, such as weakness, muscle stiffness and fatigue and the presence or absence of falls.

You can take part in the study if you have a diagnosis of HSP.

After you sign up you will complete a questionnaire about factors such as your age, diagnosis and family history, previous falls as well as your current symptoms and their perceived severity. Once you return these forms you will be sent diary packs. These will be used to indicate your falls and their characteristics on a daily basis. The falls diaries will ask about how you fell, what you were doing at the time and the perceived cause of the fall. Every 2 weeks you will need to return the falls diary sheets or an indication that you have not fallen in that period. We will collect the falls diary over a 3 month period.

The study is being completed by the researcher as part of her Master’s degree in Neurological Rehabilitation at Plymouth University and results will therefore be written up to form their thesis. The results of this study aim to be published in 2018 and presented at relevant national and local conferences. They will also present the results at UK HSP support group meetings.

To take part, the full details are right at the end of the March 2017 UK HSP support group newsletter: http://hspgroup.org/images/Newslink/March2017.pdf

I have signed up for this study, even though I havent had any falls as a result of my HSP. I queried if my no-falls data would be beneficial before signing up. The initial questionnaire is actually 7 short questionnaires covering different aspects. It didnt take me long to fill those in, and I will be using some of these questions in one of my autumn surveys!