.

The Problem

It is not uncommon for HSPers to have trouble with bowel function. Everyone’s a bit embarrassed about their poo, but faeces are normally about 75 per cent water.

http://www.wellbeing.com.au/article/features/body-health/Special-Report—Bowel-Health_700

Problems of bowel irregularity (faecal incontinence) include constipation and loss of control. Constipation can also lead to anal fissures and haemorrhoids.

The Causes

These problems can come from lack of normal nerve and muscle function in the bowel, progressive lower extremity weakness and spasticity, inadequate activity or exercise or immobility, inadequate water intake, inadequate fibre in diet, increased body weight, stress, medicines and depression. Too, constipation is more common in older people. This is due to a number of factors, including reduced intestinal muscle contractions and reliance on regular medications.

Lifestyle Options

With our physical conditions and lifestyle issues as HSPers, we need to be very particular – more so than the average person – about what and how much we eat and drink. The following lifestyle options can be helpful to improve bowel control:

• Eat more fruits, vegetables and fibre.
• Drink more water.
• Get some exercise.
• Toilet routine
• Pelvic floor exercises

Eat more fruits, vegetables and fibre

Dietary fibre http://en.wikipedia.org/wiki/Dietary_fibre is found in food from plants. There are two broad types of fibre – soluble and insoluble.

Soluble fibre helps to soften the faeces. Good sources of soluble fibre include legumes (beans, peas, lentils), oat bran, fruits and vegetables. It helps:

• lower total and LDL (bad) cholesterol
• regulate blood sugar
• reduce risk of cardiovascular disease, diabetes and onset for some types of cancer.

Insoluble fibre absorbs water as it moves through the digestive system, adding bulk to the faeces, helping it to move more quickly through the bowel. Good sources of insoluble fibre are wheat bran, wholegrain breads and cereals. Because insoluble fibre absorbs water, increasing intake of this fibre without drinking enough water can contribute to constipation!!!

The intake of foods such as milk, cheese, white rice, white flour and red meat should be restricted because they tend to contribute to constipation.

Fibre supplements may be helpful if a person is reluctant or unable to include more wholegrain foods, fresh fruits or vegetables in their daily diet. Psyllium husk is the fibre used in many of these supplements (see Over the Counter Products below for more). Because fibre supplements can aggravate or cause constipation, check with your doctor or dietitian when using them for more than occasional use. And be clear, constipation can occur if you don’t drink enough water with a high-fibre diet, so just changing your diet may not be enough by itself.

Look to see how much fibre you should be getting daily using this online fibre calculator.

Here is more information about dietary fibre including the fibre content of common foods.

Drink more water

Liquids help to plump out faeces, making them softer and less dense, and so easier to pass. 6-8 glasses are recommended daily. This can be difficult for HSPers with urinary incontinence, as you tend to drink less and less, but adequate water intake is very important. It could be helpful to plan your water drinking for the time of day when a toilet is more convenient, but not too close to bed time, so sleep isn’t interrupted. Keep in mind that the recommended 6-8 glasses per day don’t include caffeinated drinks such as tea, coffee, energy drinks, soft drink, or alcohol. These are all known as diuretics, they make you urinate more, and all are dehydrating.

Get some exercise

Physical activity is very important for many reasons, including heart and lung fitness, strength, flexibility, body weight control, stress control, mental health, and promoting bowel regularity. Find an enjoyable physical activity that you will happily commit to doing regularly. Even if you’re not able or inclined to go to a gym or buy substantial exercise gear, there are exercises most people can do in their homes with minimal equipment or instruction. Variety is good too.

Toilet routine

Establish a regular time for emptying the bowels:

• for constipation, attempt a bowel movement in the morning, soon after waking, or about 30 minutes after a meal. This helps take advantage of the body’s natural gastrocolic reflex.
• respond immediately to the urge to defaecate and not to put off going to the toilet.
• don’t strain down while attempting to defaecate as this won’t empty the bowel effectively, and will place excessive strain on to the muscles that support the pelvic floor.
• use a footstool. A knees-above-hips position places the pelvic floor muscles in the correct position to assist defaecation.
• keep legs apart, with feet flat.
• keep lower back straight, and lean forwards.
• bulge your tummy and widen at the waist – but don’t strain.
• hold this posture while your bowel opens in as many ways as possible.

Pelvic floor muscle training

This can also help with urinary incontinence.

Men and women both have “pelvic floors”, though the anatomy and the methods to keep these muscles strong differ. Your pelvic floor muscles help you to control your bladder and bowel. They also help sexual function.

How to build a strong pelvic floor – for men:

website: http://www.bladderbowel.gov.au/adults/pelvicmen.htm

fact sheet: http://www.bladderbowel.gov.au/assets/doc/brochures/05PelvicFloorMen.pdf

How to build a strong pelvic floor – for women:

website: http://www.bladderbowel.gov.au/adults/pelvicwomen.htm

fact sheet: http://www.bladderbowel.gov.au/assets/doc/Factsheets/English/06PelvicFloorWomenEnglish.pdf

Over the Counter Products

If the above lifestyle approaches are not enough to help with bowel control, there is a range of products available over the counter.

As a fibre supplement, psyllium seed husk, a soluble fibre, is ground and used in food products to add fibre or as a thickener. Health food stores love to sell the stuff, however a study has shown that prunes are superior for treating chronic constipation. Eat prunes!

There are numerous brands and types of stool softeners including enemas, suppositories, bulking agents and laxatives. With laxatives there are two main types: bowel stimulants and agents that increase the water content of the stool. But ongoing use of laxatives can contribute to the development of constipation. These products should be used only in moderation to facilitate a bowel movement. Bulking agents can work adversely with certain prescription drugs. Continuous or regular use of these products is generally not recommended unless under the advice of a doctor or pharmacist for longer term care.

More specifics on treatment options including specific brands can be seen here: http://www.mydr.com.au/gastrointestinal-health/constipation-treatment-options

Medications

If lifestyle modification and over the counter products aren’t helpful enough…

Doctors sometimes prescribe Bentyl which relieves spasms of the gastrointestinal tract (stomach and intestines) by blocking the actions of spasm-inducing chemicals in the body. It is used to treat functional bowel or irritable bowel syndrome (IBS).

Sacral nerve stimulator implants are being used in patients with severe constipation. The brain controls our body’s muscles and movements through electrical impulses carried by nerves.  Sensations such as fullness in the bladder or rectum, are also relayed to the brain via these nerve routes. Sacral neuromodulation helps to correct inappropriate, unwanted or even erroneous messages sent along these nerve pathways.

References:

Continence Nurses and Physiotherapists all can be located either through the Continence Foundation of Australia helpline or through your Area Health Service. You can ring the National Continence Helpline on 1 800 330 066.

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.

MS Australia – Bowel Dysfunction:    http://www.msaustralia.org.au/symptoms-bowel.asp

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

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

My Doctor for a healthy Australia from MIMS:

http://www.mydr.com.au/tools/daily-fibre-calculator

http://www.mydr.com.au/nutrition-weight/dietary-fibre

http://www.mydr.com.au/gastrointestinal-health/constipation-treatment-options

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

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

Prune (dried plum) vs. psyllium therapy trial: http://www.ncbi.nlm.nih.gov/pubmed/21323688

If you have access to a hydrotherapy facility, swimming pool, or even a lake or creek when the water is warm enough… then take advantage of this marvellous medium for gently exercising and relaxing spastic muscles, having a whole body workout, and as much fun as you choose!

Here is a PowerPoint presentation Aquatic Therapy (2.8 MB) that you can download that gives a whole range of different ways to exercise in water safely and effectively. The presentation also goes into the background behind the exercises and describes what is going on in the body so that we can understand what we are both trying to achieve and trying to avoid to get maximum benefit.

The Danish Assoc for Ataxia and HSP had their annual conference on Nov 5th, 2011. Here are sessions from the Conference titled “Quality of Life”.

USA Synapse

The Winter 2012 edition of Synapse, the newsletter of the Spastic Paraplegia Foundation in the USA is now available online. Just click on the newsletter image to download as a PDF file (1.6 MB)

Physiotherapist Liz Wrobleski outlines everything you need to know to safely and effectively get the most out of a stationary bike (page 10).

HSP research updates are on pages 11-12.

Electric scooters are covered in great detail on pages 13–15 in an article by Dr. Malin Dollinger.

Here are details of the SPF’s 2011 Research Grant Awards:
Melissa M. Rolls, Ph.D., Assistant Professor,
Biochemistry and Molecular Biology, Penn State
University, University Park, PA, “Function of spastin
in axon regeneration: a new role for the HSP protein
Spastin”

Xue-Jun Li, Ph.D., Assistant Professor, Health Science
Center, Department of Neuroscience, University of
Connecticut, Farmington CT, “Elucidating the role of
BMP signaling in HSP using patient-specific induced
pluripotent stem cells”

Paola Arlotta, PhD, Assistant Professor of Stem Cell and
Regenerative Biology, Harvard University, “Molecular
mechanisms of corticospinal motor neuron dysfunction
in HSP and PLS”

John K. Fink, M.D., Professor, Department of
Neurology, University of Michigan, Ann Arbor, MI,
“Natural history of primary lateral sclerosis and
hereditary spastic paraplegia: establishing parameters
for clinical trials”

Nichole Hein, Ph.D., Postdoctoral Fellow, Department
of Neurology, University of Michigan, Ann Arbor,
MI, “In vitro models of Primary Lateral Sclerosis and
Hereditary Spastic Paraplegia”

Here is another one that has a social bonus as well… riding with your partner or friend side-by-side. This is a side-by-side cycle that allows parallel riding by two people.

It is suitable for those whose disability does not prevent them from maintaining a normal cycling posture but prevents them from cycling alone.

Cost is about $1,500.

The 2011 fundraising effort delivered great results. After a $15,000 shortfall in 2010, we raised the target in 2011 to $115,000 and by year’s end the amassed total amounted to $111,918, almost a third more than 2010… now that’s something to be pleased and proud of. Well done!

How it is being used

This total was achieved through the combined generosity of the HSP community, event sponsorships initiated by community members, and through philanthropic grants. More than 95 cents of every dollar raised goes to fund research to find a cure for HSP… and this is a big year on that front. The first grant of $50,000 from the Foundation this year for the stem cell research project has just been made.

2012 Target

The Foundation has set a target of $120,000 for 2012 based on expenditure for materials used in the drug screening part of the stem cell research project, as well as support for employment costs of the researchers. In this Autumn edition of the website, each of the 5 members of the stem cell research team has written about their individual role and how they contribute to the project. Read that article here.

The money spent on the stem cell research project is an excellent investment in finding and developing a cure for HSP. We will be encouraging you to give generously later in the year, and very much appreciate and look forward to your continuing support.

Prof. Alan Mackay-Sim

Prof. Alan Mackay-Sim, Co-Principal Investigator

.

I help chart the direction of the research program, plan and regularly monitor research progress, guide and mentor the research team, analyse and interpret results, and write up the research for publication. I take overall responsibility for the project, funding and publication.

As a neuroscientist and stem cell biologist I contribute to our collaborative team with the overview of how to use patients’ stem cells most effectively to learn how HSP affects human cells, and how potential drugs can correct or compensate for malfunctions caused by HSP.

.

.

Prof. Denis Crane

Prof. Denis Crane, Co-Principal Investigator

I contribute my experience in cell biology and biochemistry, and in particular on peroxisomes (one type of microscopic structure inside cells), to the project. Peroxisomal disorders have been the focus of a substantial part of the research I have done over the years. There are a group of neurodegenerative diseases, including HSP, characterised by defective peroxisome transport and distribution in nerve cells.

We have established that there is disruption to the microtubule network within HSP stem cells. One major function of microtubules is to act as the distribution network for moving the different types of microscopic structures (known collectively as organelles) around cells. The project has also shown that certain organelles, namely mitochondria and peroxisomes, have altered distribution with HSP. This is an intriguing finding and is in line with research on other neurological diseases which suggests that disease pathology may be related to altered movement of organelles in nerve cells.

Dr. Yongjun Fan

Dr. Yongjun Fan, Ph.D.

I have been working on the investigation of pathological alterations of HSP stem cells, which we are using as a cell model of HSP.  Some significant cellular and molecular alterations have been identified, and the confirmed data suggest the mechanism of HSP could be different from current thinking. These new findings are being submitted to a high-impact journal for publication. This will be the first report of using human stem cells to investigate the HSP mechanism.

These new findings are more informative because the cells being used are directly derived from people with HSP rather than animals such as mice or fruit flies that have a quite different genetic background.

I will also be performing the drug-screening using this cell model based on the new findings. More than 20,000 compounds may be tested as candidates to cure HSP.

.

Gautam Wali

Gautam Wali, Ph.D. candidate

In stem cells from people with HSP, differences have been shown between HSP cells and healthy cells. The defect includes difference in distribution of cellular organelles including mitochondria and peroxisomes throughout the cell. The distribution defect is shown to be due to malfunction of the microtubule network of the cell, in which the peroxisomes and mitochondria are transported. This malfunction is hypothesized to be caused by the mutation in the gene SPG 4 that encodes the spastin protein. The defects in distribution lead to degeneration of the corticospinal motor neurons (long nerve cells of the brain and spinal cord) and this is the basic pathology of HSP.

I am working on inducing HSP stem cells to differentiate into neuron-like cells with one long “arm”. The plan is to use these cells to test for potential changes to organelle transport and distribution. I will be working on defining the trafficking defects of the mitochondria and peroxisomes and try to rectify them by screening microtubule specific drugs.

.

Simon Weyers

Simon Weyers, Ph.D. candidate

I am working on stem cells from HSPers who have mutations other than SPG4. These HSPers show exactly the same clinical features as those with an SPG4 mutation. I am investigating cellular mechanisms that lead to similar or even the same disease patterns, but with different genetic backgrounds.

The first thing is to look at the levels of microtubule severing proteins. It is assumed that alterations in microtubule severing proteins lead to differences in cell organelle trafficking which lead to the onset of HSP symptoms. The proteins of interest in the first set of experiments are Spastin, Stathmin and Atlastin, a binding partner of Spastin that possibly plays a role in the Spastin pathway.

In further experiments we will look at the distribution of cell organelles and start treating the cells with the compounds Vinblastin and Taxol that are known to have an effect on the microtubule scaffold within the cell.
I hope that our research can contribute to a better understanding of this complex disease.

Tim & Elias in Foundation T-shirts

Tim Xiros and his dad Elias have taken on and successfully completed the Cole Classic ocean water swim held at Sydney’s Manly Beach on 5 February, 2012. Tim, who has HSP, and his extended family and huge network of friends have been great Foundation supporters since the start. Here is the story of their latest adventure.

Tim writes:

“I have always wanted to do a competitive swim with Dad but have never managed to meet him at Ashfield Pool for his 6am daily swim! While on holidays up at Hawks Nest over Christmas, we decided it was time

Hawks Nest at Xmas

to do something about it. We chose the Cole Classic – the challenge to swim the 1km leg from Shelly Beach to Manly Beach to raise funds for the HSP Research Foundation. We are trying to raise as much money as we can for this great cause.

Despite the grey skies and rainy summer we’ve had, our training was going exceptionally well. Dad was undertaking his daily morning ritual at Ashfield Pool and I managed 30 laps at Enfield Pool, not at 6am though. Thanks to JB the lifeguard at Enfield for his photography skills!

Training swim

So, finally the day arrived and it turned out to be truly an amazing day. The event was very well organised with the surf club putting on a great show for more than 5,000 swimmers. The lifeguards were out in force both in and out of the water, ensuring all swimmers were in good hands and well hydrated. Heaps of promo from sponsors Fairfax and Nova to collect on the promenade at the end of the race too!

We finished!!! Despite the organisers changing the course due to the choppy conditions, we both managed to finish the swim under 40 minutes! Dad’s time was 37:10 and mine was 39:41, but I reckon that he may have had a bit of assistance from the Manly surf patrol…. The race was hard work! At half way I thought that I would be spending the night in ER at Royal North Shore Hospital!

Proud finishers!

The fundraising exceeded all our expectations! The total stands at $6,080 raised for the Foundation and still counting!!  Many thanks to everyone for giving and for their support via SMS and email. Just when I was thinking of putting up my hand for assistance from the lifeguards, thinking of your support gave me that extra bit of energy to get me to the finish line! Hoping to recover to swim again next year!!

Editor’s Note: You can still contribute to show your support and appreciation for Tim & Elias’ effort. Just go to:

http://www.everydayhero.com.au/tim_xiros_5 and click on the DONATE NOW button there.

Enter an Event: If Tim & Elias’ story has inspired you, check out all the events for which the HSP Research Foundation is one of the listed charities. Any member of the HSP community… or family, friends or co-workers can sign up for any of these events and raise money to fund the research to find a cure for HSP. The list of events is enormous… events of all types, from all over Australia, and all year long. Check them out at:

http://www.everydayhero.com.au/events/calendar

http://www.gofundraise.com.au/events/search

The Foundation is an all-volunteer organisation. We get things done through the commitment of busy, talented people who dedicate a portion of their valuable time to serve the Australian HSP community. We always have too many jobs to do and too few people to do them.

This is a great chance to serve the HSP community… a cause close to all our hearts. Please consider making a contribution of your time and talent to help the Foundation achieve outcomes in the following areas:

• Treasurer &/or Bookkeeper (this can be two roles or one combined):
  • maintain an up to date set of Accounting books as per professional standards.
  • planning and budgeting – making recommendations to Committee.
  • managing cash flow and investments (term deposits); make payments and disbursements.
  • oversee banking.
  • maintain files for relevant documentation – tax invoices, bank statements, licence agreements etc that may be required for audit.
  • prepare for audit. Communication and liaison with auditor and provision of accounting and other relevant data.
  • process electronic statements (spreadsheets) of donations from third-party collectors such as ourcommunity, everyday hero, and gofundraise.
  • process direct donations by EFT, cheque or money order etc.; issue electronic (and some postal) donation receipts.
  • complete forms and applications pertaining to financials or fund-raising that may be required from time to time. eg to Fair Trading (form 12)
  • complete BAS and withholding tax forms as required.
  • provide financial summaries and any relevant advice to the Foundation at agreed intervals, including written reports as necessary.
• Philanthropic Grant Writing: preparing grant applications to philanthropic institutions for funding of research.

• Fundraising Consultant/Strategist: someone with knowledge and experience to advise us and help develop strategies and plans for effective fundraising.

• Promoting Fundraising: both within the HSP community, and especially opportunities with the community at large, via event fundraising and sponsorship.

• Community Development: There are roles for HSP community members as call volunteers for the annual community contact initiative. Volunteers need to be comfortable calling and talking with HSPers they haven’t met, be good listeners, well organised and largely self-managing, take notes and record data on a spreadsheet, and participate in team-based orientation/training and evaluation.

• Publicity:To enhance awareness of HSP and create/maintain a highly favourable image of the Foundation with specific target audiences and the general public. Raising awareness and the profile of HSP, HSPers, HSP research/researchers, the Foundation and funding within the community, within the relevant medical and paramedical communities, and with society at large —  through both direct communications from the Foundation as well as mass media and the creation of opportunities with them.
  • finding, creating and leveraging opportunities for exposure e.g. profiling HSPers; research findings on HSP; research and other initiatives funded by the Foundation.
  • writing articles for publication, including on the website.

• Communications: A service role supporting education and awareness, community development, and fund-raising; responding to correspondence. The role could also include: develop, plan and implement a Communications and social media strategy, and creating copy for the Foundation website.

Do not worry if you do not have the specific skills required for a particular project or role, or if you have very little discretionary time. As long as you are motivated and have a record of relevant achievement in your working life, please CONTACT US directly to explore possibilities for what might work both for us and for you. We will personally respond to everyone who contacts us.

Thank You!

Wednesday, 29 February, has been celebrated worldwide as Rare Disease Day with events highlighting the plight of those with rare diseases such as HSP and calling for governments and health authorities to do more.

With over 7,000 registered rare diseases, although the numbers with any one of these diseases in Australia will be small (1,600 estimated with HSP), taken overall, there is the alarming statistic that one in 10 people has a rare disease either for their whole life or at some stage of it. 4,000 of these diseases have known molecular causes, but a cure has been found for only 250 so far… but for many of these, the cure has not been developed and is not commercially available. As a society we can do better. More needs to be done!

1,600 people with HSP will not get politicians excited, but 10% of the population with one of 7,000 rare diseases demands their attention. The federal government announced last year support-in-principle for a National Disability Insurance Scheme (NDIS)… but it is years away from implementation and who knows what level of commitment they will display as time rolls by.

In Sydney, a Rare Disease Day event was held with former Australian cricket captain Steve Waugh and TV star Georgie Parker headlining the proceedings. In addressing the crowd, Steve emphasised the need for Government recognition and action on the NDIS.

This coming Wednesday, 7 March, the Australian Paediatric Surveillance Unit is holding a workshop in Sydney (Final_Workshop_Flyer) on rare diseases to mark World Rare Disease Day. All are welcome to attend and here are the details:

Wednesday, 7 March, 9am – 5pm, The Children’s Hospital at Westmead

The workshop (Final_Program1) will focus on:

• research and policy related to rare diseases,
• the experiences of families
• health service needs

Speakers Include:

• Professor Helen Leonard, Institute of for Child Health Research WA
• Professor Elizabeth Elliott, APSU and Faculty of Medicine, The University of Sydney
• Dr Kaustuv Bhattachayra, Dr Carolyn Ellaway and Dr Felicity Collins from the Medical Genetics Department, Children’s Hospital at Westmead
• Presentations from families living with a rare condition and from support groups: The Smile Foundation, The Steve Waugh Foundation and Association of Genetic Support of Australasia (AGSA).

Please see attached or go to the APSU website www.apsu.org.au  or contact Kirrilee Drew at the APSU 02 9845 3005 kirrilee.drew@health.nsw.gov.au

Hereditary spastic paraplegias (HSPs) are clinically and genetically highly heterogeneous. The key symptom of spastic paraparesis of lower limbs can be complicated by a variety of signs and symptoms including cognitive impairment, optic atrophy, cerebellar ataxia, peripheral nerve involvement, or seizures.

At least 48 loci have been identified, termed SPG1-SPG48. Ten genes for autosomal dominant HSP are currently known, SPG4 being by far the most common subtype accounting for ∼50% of cases. SPG3 is especially common in young-onset cases.

Autosomal recessive HSP seems to be even more heterogeneous. The known 12 autosomal recessive HSP genes collectively explain about one third of cases only. The most common causes for pure autosomal recessive HSP are SPG7 and SPG5. Mental retardation and thin corpus callosum on magnetic resonance imaging point toward SPG11 and SPG15. The authors provide an overview on clinical, neurophysiologic, and neuroradiologic characteristics of the more common HSP subtypes. More details are given in the tables for quick reference, and a genetic testing strategy is proposed.

SOURCE:  Semin Neurol. 2011 Nov;31(5):484-93. Epub 2012 Jan 21. © Thieme Medical Publishers.  PMID: 22266886 [PubMed - in process]

Genetics of hereditary spastic paraplegias.

Schüle R, Schöls L.

Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research and Center for Neurology, Tübingen, Germany. rebecca.schuelefreyer@uni-tuebingen.de