Breakthrough Progress

The researchers have finalised validation of the assays (tests) for the drug screening. While this may not sound like much, it is an extremely important step and a significant breakthrough in the research project. What they have done is create a test where none previously existed. Imagine the time when people were aware of feeling hotter or colder but had no way to measure temperature as thermometers had not been invented. The stem cell research team have created a reliable ‘thermometer’ for measuring the effect of potential drug compounds on various functions altered in HSP affected stem cells – that is, they can detect and measure restoration of cell contents, distribution, processes and functions to control cell levels. This breakthrough is vital for the drug screening phase.

The findings will hopefully be published in an eminent journal before the middle of next year. Our heartiest congratulations to the whole team!

Award

The principal investigator on the HSP stem cell research project, Prof Alan Mackay-Sim, has won the 2011 Australian Museum Eureka Prize People’s Choice Award for Australia’s most popular scientist.

There could be no more deserving recipient of this highest of accolades and the whole Australian HSP community adds our rousing congratulations and best wishes for continuing success.

Frank McKeown & Robin Bligh of the Foundation flank Prof Alan Mackay-Sim

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Additional Funding… Additional Staff

As a reflection of, and a tribute to, the progress to date on the project… made possible largely by funding from HSP community members through the Foundation… the National Health & Medical Research Council of the Australian Government Department of Health and Ageing have made available funding for the HSP stem cell research project that has made it possible to expand staffing for the next 3 years. The funding is for work associated with “platform technologies” of stem cell banking and gene expression profiling, and also for consumables.

There are now effectively 3+ people dedicated to the HSP stem cell project, where 12 months ago there was just one. This is amazing progress!

Professor Denis Crane

A cell biologist and biochemist, and expert on neurodegenerative diseases, is an addition to the team and will assist Prof Alan Mackay-Sim as a principal investigator.

Dr Yongjun Fan

Fan will continue his excellent work this year and focus on the all-important drug screening in 2012. We eagerly await news of potential drug compounds being identified next year.

PhD student Simon Weyers

Simon is new to the team and will quantify the characteristics of stem cells from non-SPG4 HSP samples collected. This is a whole new area and it has already been demonstrated that there are significant differences from the SPG4 cells already studied.

PhD student Gautam Wali

Gautam is also new to the team and will work on the dynamics of organelle movement inside stem cells and neurons derived from SPG4 stem cells and healthy control stem cells.

Youngjun Fan, Gautam Wali, Frank McKeown, Alan Mackay-Sim, Robin Bligh, Simon Weyers

Children

The study on children is being undertaken as Ph.D. research by physiotherapist Brooke Adair. Volunteers are being called for, so please seriously consider making enquiries if you have children with HSP… it will be of benefit to all. Read the article and learn more about the study in this edition of the website in the Living with HSP section.

We wish Brooke all the best with the research and with her Ph.D.

Adults

The study on adults is an analysis of all the gait data of HSPers that have been collected over the years by the Clinical Gait Analysis Service of Southern Health.

Around 40 HSPers gait records have been collected, meaning that there is a fair chance that patterns found amongst the data may be reliable indicators of commonalities for HSP.

If you have received a letter from Southern Health requesting your approval for your data to be used in this analysis, please take the time to complete the form and give your approval as everyone will benefit.

The research team includes Dr Barry Rawicki, a rehabilitation physician who has seen a large number of HSP patients over the years and is very highly regarded, and Dr Anna Murphy, the manager of the Gait Analysis Service.

Best wishes also to this team for a successful study and we look forward to progress reports and helpful results from both.

Excellent Investment

Read the stem cell research progress report in this edition. It is difficult to escape the conclusion that funding this project has been, and is, an excellent investment.

$12,000 to go… please Give Generously!

In the last edition of the website in September, there was an article about how the stem cell research is funded.

At the time $93,000 had been raised towards our $115,000 target for the year. Since then, the Flack Trust has given $10,000 as a philanthropic grant, the same as they did last year. Our sincere and heartfelt thanks to them for their continuing support!

That leaves us with an even more achievable target of $12,000 to raise by the end of the month. Please give generously!

Workplace Giving

Many organisations in Australia choose one or a number of charities to support, while others leave it up to their workers to decide where their money goes, based on a matching model of workplace giving.

Workers can choose to contribute on a one-off, weekly or monthly basis to the charity of their choice, with the company providing matching funds dollar for dollar.

The beauty of this approach is twofold… firstly, people can choose to support the HSP Research Foundation, and secondly, there is a multiplier effect as every dollar you give turns into two with the matching.

Ask about Workplace Giving where you work!

HSPers enjoying a chat

Following the community contact initiative earlier in the year, quite a few in the group of call volunteer Brendon Flood got together on Sunday November 20 at Rooty Hill RSL and socialised over a very enjoyable lunch. This was the first time most of those attending had met, but people were soon interacting as if they had known each other for quite some time.

The group at lunch

The get-together provided an opportunity for HSPers to socialise in a relaxing place, to share the ways HSP is affecting them and to discuss problems they are encountering. As well, some there plan to maintain contact with each other. One HSPer commented “It was good to hear the chat about managing symptoms, time of onset and so on”.

A mystery donor offered to match the amount people paid for their food and drinks and as a result $380 has been donated to the Foundation. People said that they were already looking forward to the next get-together, which will be held in February.

Elections of office bearers and committee members was conducted in accordance with the Constitution and the new committee installed.

Here are the minutes of the meeting:
AGENDA

1. Registration
2. Welcome, Agenda run-thru, Apologies
3. Confirmation of Minutes from last AGM
4. President’s Report
5. Treasurer’s Report
6. Election of Office Bearers & Committee Members
7. General Business – none.

APOLOGIES: Ken Price, Therese Bligh, Colleen Hickey, Rolf Muller, Susan Williams, Tim Xiros

TRIBUTE: The meeting observed a minute’s silence on the occasion of the first anniversary of the passing of our esteemed Vice President, Con Xiros.

CONFIRMATION OF MINUTES from last AGM: A resolution was put that the minutes of the 2010 AGM be taken as read and confirmed.

Proposed: Judith Harris        Seconded: Robyn Lunn         Passed unanimously.

PRESIDENT’S REPORT

Reference was made to the Annual Report that had previously been sent to members. President Frank McKeown spoke briefly about progress with the stem cell research project, about the growth and development of the HSP community over the previous 12 months, and also about positive developments in how the Foundation does business.

TREASURER’S REPORT

Reference was made to the Annual Report, which had previously been sent to members. Treasurer Steve Lunn highlighted the major items in the audited statements and referenced the secure financial position of the Foundation.

A resolution to accept the Annual Report comprising the President’s Report, the Treasurer’s Report and the Audited Financial Statements was put.

Proposed: Colin Harris         Seconded: Chris Hall             Passed unanimously.

Lunch following the 2011 AGM

ELECTIONS

The following nominations were received from the floor at the meeting:

President: Frank McKeown Nominated: Steve Lunn Seconded: Robin Bligh

Vice President: Robin Bligh Nominated: Peter Jones Seconded: Chris Hall

Secretary: open

Treasurer: Steve Lunn Nominated: Brendon Flood Seconded: Peter Jones

Committee Positions:

Ken Price Nominated: Frank McKeown Seconded: Chris Hall

Chris Hall Nominated: Frank McKeown Seconded: Robyn Lunn

Tim Xiros Nominated: Frank McKeown on Seconded: Judith Harris

As there were no other nominations, the candidates nominated are taken to be elected as per the Constitution.

Meeting closed 1:15pm

Following the meeting, there was a get-together and socialising over lunch.

Researcher Brooke Adair

Hello, I’m Brooke Adair. I am a physiotherapist and am involved in research at the University of Melbourne to better understand the walking patterns of children with HSP. Results from this study may assist clinicians with diagnosis and treatment.

The study is aimed at children who:

* are aged between 6–18

* have HSP

* and can walk 10m unaided.

We are particularly interested in children who have a family history of HSP.

The assessment involves completing some questionnaires and having the walking pattern recorded at the University of Melbourne. The session will take about 2 hours.

Markers attached for recording

During the session the children will have small reflective markers placed on their legs similar to those shown in the picture.

Children with HSP from anywhere are welcome to participate in this study in Melbourne, which will run from mid-December 2011 to around the end of March 2012, however there is no budget to meet travel or other expenses. Please download and read the accompanying documents:

• an advertisement outlining the study (115KB PDF document)
• a full plain language description of the study (98KB PDF document)

for more information on the study and what participating in it involves.

If you know of families with children who have HSP, it would be appreciated if you would bring this communication to their attention.

If you are interested or have questions, contact me on (03) 8344 0486 (where you may need to leave a message) or by e-mail at b.adair@student.unimelb.edu.au

Thank You!

Brendon in beautiful Tasmania

I was a Primary school teacher, which I loved but at about age 47, others noticed that I had a gait problem. At age 56, my walk was bad enough to prompt me to see my family doctor. Tests revealed that I didn’t have Multiple Sclerosis or Motor Neurone Disease but an x-ray revealed I had a protruding disc that was compressing my spinal cord. Maybe this was the cause! This was fixed with surgery but my walking problem was still there. The neurologist did further tests and concluded that I had HSP.

Over the last 8 years the effects of HSP have slowly worsened. It has seriously affected my mobility, but holding my wife’s arm while out walking certainly helps. I need handrails to walk up and down stairs and shopping trolleys are a great aid to walking in shops. Walking in the dark is a total no-no. My feet hurt a great deal due to my toes clawing but a visit to the podiatrist every 6 weeks or so does help.

I still try to do everything and garden, build, housework and help at school from time to time. I anticipate that within 2 years I will need a walker. I have tried walking sticks but find they only make things worse. I know of no one in my family who has this disease. My lovely wife is very helpful which makes things much easier.

The Problem

Problems can include:

• increased urgency – when you have difficulty getting to the toilet quickly enough
• frequency problems – having to urinate unusually often
• incontinence – the inability to hold urine in
• stress incontinence – urine leaks when one sneezes or coughs
• difficulty voiding – not being able to empty the bladder
• hesitancy in starting urination
• frequent nighttime urination (also known as nocturia)

The Causes

Non-HSPers also suffer these incontinence issues in large numbers for reasons including: inadequate activity or exercise or immobility, inadequate water intake, inadequate fibre in diet, increased body weight, stress, medicines, depression… all of which also apply to HSPers. Too, current research is showing that low serotonin levels, which are associated with depression, can also cause urinary incontinence. For the HSPer, an additional, specific cause of incontinence is malfunctioning nerve signals leading to lower extremity weakness and spastic muscles.

Lifestyle Options

There are lifestyle options that might help to improve control of urinary function.  These include eating more fruits, vegetables and fibre, drinking more (not less!) water and getting some exercise.  Physiotherapy and biofeedback can also be helpful. Both men and women can benefit from exercises to tone pelvic muscles and retrain the bladder.

Setting up a daily schedule for when to urinate has been shown to be helpful. For example, urinate when you get up in the morning and then at spaced set times during the day – rather than running to the bathroom every time you think of it.

There are numerous incontinence products available now including disposable liners, pads or pants to keep one clean and dry, mattress pads, swim wear and more. Catheterisation (inserting a thin tube into the bladder to remove urine) is helpful for some HSPers (who say it’s not as horrible as it sounds!).

Medications

If lifestyle modification alone isn’t enough, there are numerous drugs and patches available, with various side effects and at differing costs.  Of course you would need to talk with your doctor or neurologist about specifics and options but these are a few of the drugs your doctor might prescribe.

For an overactive muscle and also a sphincter which fails to open or close appropriately:

• Propantheline bromide
• Donnatabs
• Oxybutynin
• Imipramine

For those who have a problem with retention, these drugs can allow the sphincter to relax to facilitate emptying:

• Prazosin
• Phenoxy-benzamine

Also found to help with urinary incontinence:

• antidepressant drugs

Other Options

There are more newly available options including:

• Botox injections – Botox is injected into the bladder, resulting in relaxation of the bladder.

• Sacral Nerve Stimulator Implants – One way the brain controls our body’s muscles and movements is through electrical messages. These electrical impulses are carried by nerves. Sensations such as fullness in the bladder or rectum, are also relayed to the brain via these nerve routes. Sacral neuromodulation can help correct inappropriate, unwanted or even erroneous messages sent along these nerve pathways.

There is a test phase before implantation of the device. If successful, the device, about the size of a stopwatch, would be surgically implanted in the buttocks to send mild electrical pulses to the sacral nerves. Stimulating the sacral nerves helps the brain and nerves communicate.

Resources

We have only just touched on the issue of urinary incontinence here but the important thing is you are not alone and there are treatments available. Unfortunately lots of HSPers and people everywhere have these annoying, embarrassing problems. There are lifestyle issues that might be helpful for you and medical options too, and there are lots of resources for you to explore further.

Continence Nurses and Physiotherapists all can be located either through the CFA helpline or through your Area Health Service. You can ring the National Continence Helpline on 1 800 330 066. The following websites offer a wealth of useful information:

South Australian Government website (http://www.sa.gov.au/government/entity/1646/About+us+-+Disability+Services/News%2C+events+and+resources/A-Z+of+disability+information+sheets+and+publications). Click on the letter C for Continence and scroll down to “Continence:  key points” and “Continence Resource Center” to learn about free services provided including a phone number for enquiries and appointments with the Registered Nurse at the Continence Resource Centre.

Continence Foundation of Australia: http://www.continence.org.au/

Offers a national helpline phone number 1 800 33 00 66 and much more.

Bladder and Bowel Website, Australian Government Department of Health and Ageing: http://www.bladderbowel.gov.au/

Better Health Channel, Victorian Government Department of Health: http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Incontinence_management?open

MS Australia – Bladder Dysfunction: http://www.msaustralia.org.au/symptoms-bladder.asp

Spastic Paraplegia Foundation (USA): http://www.sp-foundation.org/treatment.html

National MS Society (USA): http://www.nationalmssociety.org/living-with-multiple-sclerosis/you-can/control-bladder/index.aspx

This video http://www.pelvicexercises.com.au/bladder-control-training/ is ideal for women (and men too) who experience urinary urgency (i.e. intense bladder spasm and overwhelming urge to empty their bladder). It provides simple, effective and practical strategies and bladder control exercises to overcome bladder urgency, retrain the bladder and stay dry.

Descriptions of sacral nerve treatment:

http://www.medtronic-gastro-uro.com.au/bladder-sacral-nerve-treatment.html

http://www.goodhealthcare.com.au/nocturnal-enuresis/sacral-nerve-stimulation

Four diverse sessions were presented:

• Genes & Gene Testing – Dr Elizabeth Thompson, Clinical Geneticist, SA Clinical Genetics Service.

• Achieving & Maintaining Good Mental Health – Cindy Eggington, BAppSc (Dis) (Hons); PhD Candidate, School of Disability Studies and Community Inclusion, Flinders University.

• Managing & Maintaining Mobility  - Tamina Levy, Principal Physiotherapist, Complex Neurology Clinic, Repatriation Hospital. Private Neurophysiotherapist.

• Making Life Easier – Laura Oates, Occupational Therapist, Independent Living Centre, Disability Services, Community and Home Support SA.

Genes & Gene Testing

Dr Elizabeth Thompson, Clinical Geneticist, SA Clinical Genetics Service.

Liz Thompson presents on HSP genetics

The session covered the genetic transmission and inheritance of HSP; gene testing and genetic counselling; and family planning/IVF followed by an engaging Q&A.  Here is Liz’s PowerPoint presentation for download (2.4MB).

Achieving & Maintaining Good Mental Health

Cindy Eggington, BAppSc (Dis) (Hons); PhD Candidate, School of Disability Studies and Community Inclusion, Flinders University.

Cindy presented a framework for achieving and maintaining good mental health comprising Relationships, Interests, Lifestyle and Goals. In a highly interactive session, participants generated the following talking points:

Cindy Eggington

• independence and caring issues
• encouraging, but not stifling
• cooperation and collaboration
• communication
• compatibility – sharing, sacrifice
• support in adversity
• trade-offs and alternatives
• understanding – knowledge, acceptance, being accommodating
• loyalty and support
• problem focused versus personal focused (adaptive coping)
• humour, spontaneity
• networking and the skills involved in that
• adapting to a changing environment (either activities or at home)
• security, love and acceptance
• interpersonal needs – handling tension in relationships
• physical needs

Cindy spoke about issues relating to identity, anxiety and tension – how the family sees the HSPer and relates to them. She also talked about post-traumatic growth and the value in finding opportunities in the situation.

It can pay to re-evaluate goals and interests based on what can be, the need to dream as well as plan and to maintain a positive outlook. Also discussed were the importance of friends, of pets and of regular opportunities to be outdoors and to experience natural environments.

As a parting thought, Cindy encouraged participants to not allow anxieties to develop and manifest. Don’t be slow to seek out others to talk to, as well as other ways to share and release anxieties.

Managing & Maintaining Mobility

Tamina Levy, Principal Physiotherapist, Complex Neurology Clinic, Repatriation Hospital. Private Neurophysiotherapist.

Tam Levy demonstrates a stretching exercise

In a highly practical and hands-on session, Tam explained how

• with HSP, the core strategy is to strengthen weak muscles and stretch spastic ones.
• balance issues can be related to weakness e.g. in the tibialis anterior (shin muscle).
• aquatic exercise and hydrotherapy for both fitness and treatment are almost always helpful and safe for HSPers.
• deep massage before stretching can be beneficial.
• Botox injections to alleviate spasticity need to be followed with intensive therapy.
• dry needling into the motor point of tight muscles can help also.

Tam and HSPer Tim Xiros

Tam asked participants if any of them used electrical stimulation devices to help strengthen the shin muscle, which is responsible for lifting the toes when walking. The simplest of these devices costs about $300, right up to the NESS L300 Foot Drop System that costs $9,000 for each leg (see the article on Mobility Technology in this edition of the website http://www.hspersunite.org.au/mobility-technology/).

Tam offered an exercise handout drawn in part from this website http://www.physiotherapyexercises.com/ but made the point that HSPers need specific and specialised help with exercise and fitness programs to focus and maximise benefits in those areas most in need, while limiting potential risks and damage from exercises that are not suited.

Ed. Note: Consulting a neurophysiotherapist for assessment, exercise/fitness program development, monitoring and treatment is an excellent investment for HSPers.

Here is Tam’s PowerPoint presentation for download (1MB).

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 Making Life Easier

Laura Oates, Occupational Therapist, Independent Living Centre, Disability Services, Community and Home Support SA.

Laura demonstrating issues with walkers

Laura presented a fast-paced session, looking at and discussing a vast range of assistive technologies and devices designed to make life easier for HSPers. Of particular interest were slippers with large Velcro closures over the top and around the back, making them a soft, custom fit for any foot. She talked about choosing and using devices to ensure people get the right one and that they can use safely.

Free consultations are available by appointment with the ILC. You will meet with an occupational therapist for a tailored consultation based on your needs, make recommendations and offer alternatives as appropriate. The ILC do not sell anything – they offer independent advice.

Independent Living Centres are located in every State. Find yours at http://www.ilcaustralia.org/home/default.asp. In South Australia, the Continence Association is incorporated within the ILC.

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Community get-together

The sessions were followed by a social get-together over lunch. The lunch discussion was wide-ranging – one HSPer reported favourably on her experience taking Pramipexole (Mirapex, Mirapexin, Sifrol) for restless legs; the dearth of neurologists in South Australia with HSP experience was highlighted; and there was considerable energy and enthusiasm for forming a local social network for HSPers in South Australia.

Thank You

The Foundation is very appreciative of the support given by Prof Susan Hillier who not only organised for university premises to be made available to us for the workshop, but kindly made tea and coffee, and kitchen facilities available to us as well. Heartfelt thanks to Susan and also to the presenters Elizabeth, Cindy, Tam and Laura for their efforts in preparation and presentation, and all for giving up their Sunday for us.

There is a lot of information on this website – it tells what the qualifications are for a disability pension, factors affecting the payment rates, eligibility, and current disability payment rates.

Briefly, you may qualify for a government disability pension if you are assessed as having a physical impairment and “unable to work or be retrained for work of at least 15 hours or more per week at or above the relevant minimum wage within the next two years because of your impairment”. Typically a report from your doctor or specialist would be required. You may also need to have a Job Capacity Assessment, http://www.centrelink.gov.au/internet/internet.nsf/services/assessment_services.htm to clarify what you’re capable of work-wise.

The amount of Disability Support Pension you might be eligible for depends on your income and your assets (and if you have a partner, his or her income and assets). Additional factors are considered including whether or not you’re married, if you have dependent children, how much rent you pay etc. In this section of the website, life scenarios are used as examples.

The current maximum disability payments are shown in chart form for recipient categories: single, couples and under 21 years old with no children.

It’s a good, fairly well laid out and easy to use website with a lot of information.