Angela from Victoria has a powered tricycle for exercise and recreation. She needed a powered bike as there are hills near her that she cannot pedal up, meaning that she could not get to flatter places to enjoy cycling without some help. Here is her story …
Angela on her electric trike
“I wanted to let people know that I purchased a Gomier Adult Trike. I thought it would be a good idea to get outside and also have some exercise. I miss my walking so much.
I bought it without power, which was a mistake as it is quite steep where I live. I have had it converted to power. They guy that did it has been really great. In fact I have now found out that he can supply the trikes already converted to power. I have only just gotten it converted but it now means I do not have to worry when I am out cycling if I come to a road that is a bit steep.
The Company is called Niubike – Electric bikes for the pleasure of cycling. His name is Steve and his mobile is 0401 409 822. He came to me with great recommendations and I thought it would be something beneficial to share with everyone.
Editor’s Note: Go on the web to find suppliers in many locations around the country as well as online stores and eBay and Gumtree as places to find powered tricycles.
HSP community member Terina from Queensland had two of her children participating in the now completed gait study in Melbourne. Here is their story.
“I remember first seeing the article about the Brooke’s research in Melbourne, and thought how exciting it was that there was more research into HSP. We have such a strong family history of HSP, but had no idea until my brother and I both had girls that had the same walking pattern. My brother is in a chair, and Mum and Dad were told that his condition was from lack of oxygen at birth. We now know that we have HSP, but it was never picked up in me as a child. I have noticed a lot of changes for me as I’m getting older – the back pain would be the worst, and my balance.
By the age of 2 years I knew that something was wrong with my daughter Taylor. Taylor is now 19 years old and is nearly finished her 2nd year of uni studying to be a teacher. Taylor has also worked part time at McDonalds since the age of 14 years. Taylor is a super star. It took a few years for the first diagnosis, and there have been many tears over the years, watching your babies go through all that they do, not just the doctor, physio, OT appointments, but being a child with a physical disability is no easy journey, human nature is to stare and comment on what we see as different. This is so hurtful. My youngest daughter Emma said to me recently, it hurts more when a mummy has something to say, as that is not what mummys are suppose to do. I say to the kids it’s just like you might stare at the boy/girl who can play soccer really well, that boy/girl that you think is cute, the lady/man with the big bottom, (that got some laughs!) and also they got it. “I see mummy, but it still hurts when I hear what they say”, “and it will hurt, but lets look at all the amazing things about you. You are all so strong, you are a great cricket player and amazing reader, you have so many friends and you are so beautiful…”
The children also say to me it’s hard not being able to dance like the other kids at the school disco, due to balance and the fear of falling over in front of all your peers. As a family we focus on all of the positive and for the kids the hospital appointments are a negative, and for me too, as there is never anything positive, it is always that the condition is getting worse, that there will need to be surgery in the near future, to try and slow down the process, so whenever we go to an appointment and there are a lot, we have a treat. It may be as simple as McDonalds on the way home, to a full shopping day of looking only in the shops that the children want to look in and to buy books, toys all sorts of wonderful treats….some days it is mini golf, the list grows all the time….
When I received the phone call to see if we could come to Melbourne to be a part of Brooke’s research it was yes, yes, wow any research is a blessing to my ears. But to the children, another appointment is not so great, so let’s turn it into what the kids would think was a positive, a holiday to Melbourne, their first plane flight. My pitch – we have this wonderful opportunity to go to Melbourne and fingers crossed find out some new information to help find a cure for HSP. We can go to the zoo and you get to go on a plane. Their faces lit up and the count down was on, off to Melbourne we go….
The children were shocked at the size of Melbourne university and Em said the best and biggest uni ever. Brooke was lovely and very inviting. She was patient with the children, we did have a few delays but to be expected. We are looking forward to seeing the other results, staying very positive that we will find a cure soon…
Now for Zac’s view on our Melbourne experience:
Zac 11 years
“I didn’t really like having the 3d Gait as it hurts when they take the tape off, and I didn’t like having to have my shirt pulled up. The good things were going on a plane for the first time and having a holiday…”
Now Emma’s view:
Emma 10 years
I didn’t like the 3d lab at all. It hurts so much when they take all the balls off and it took a really long time. I didn’t like all the people looking at me when I didn’t have my shirt down. It makes me feel uncomfortable when it’s around people I don’t know, but I did think the plane ride was spectacular and it was amazing that we were in the clouds and so high up. We got to experience Melbourne and the zoo is amazing, I really enjoyed it.
Everyone knows that there’s a ton of information available on the internet. Here are just a few of many sites that may be useful to HSPers, their carers and family members. Some information comes from other neurological organisations and while it may not specifically be about HSP, it is often relevant, pertinent and excellent information.
United Cerebral Palsy of the USA (UCP) partners with SmartBrief to produce a weekly e-mail newsletter that brings important and timely news stories focusing on issues of transition for people with disabilities, advocates, UCP affiliates, and anyone looking for disability news and information, directly to subscribers’ inboxes. The subscriber list for this publication is entirely opt-in, so you will need to sign up to receive the brief.
Enjoy this newsletter geared toward parents and caregivers of children with disabilities. To join the MCWL community or for more information, visit mychildwithoutlimits.org.
Each month Brave Kids sends out an e-newsletter featuring news you can use as your child grows through childhood into teenage years, and much more. To join the Brave Kids support community or for more information, visit bravekids.org.
Learn more about Healthy Lifestyle, about caregivers and care recipients, Wheelchairs, Self Esteem, Catheters, Right Wheelchair or Sex via The National Spinal Cord Injury Association’s (US) webinars. Go to: http://www.spinalcord.org/webinar-archive/
Learn more about Travel Safety, Quality of Life with iPad Technology or Wheelchair Modification to improve Quality of Life via ALS Association’s (US) webinars. Go to: http://www.alsa.org/als-care/resources/webinars.html
To learn more about Physical Therapy (physiotherapy) and changes with aging; the importance of exercise; research showing positive things happening in the brain with exercise, or taking care of the caregiver via Parkinson’s Disease Foundation’s past seminars, go to: http://www.pdf.org/en/online_education_past
To learn more about RLS, Creating a care notebook, Botox info or, from past webinars: “It’s about teamwork. It’s about communication” – Coordinating with Your Healthcare Team, go to: WeMove.org
To learn more about Canes to Wheelchairs: Mobility Alternatives (PDF), Fire Safety for Wheelchair Users (PDF) or, what might be a very useful publication for groups not sure how to interact around disabilities, Disability Etiquette (PDF). All can be viewed and downloaded for free at http://www.unitedspinal.org/disability-publications-resources/disability-publications/
There are some interesting Youtube videos including:
There are numerous free, high-quality and appealing, open online courses that have the potential to revolutionize learning. Though it may be hard to pick out the information helpful specifically to HSPers, this could be a perfect way to learn, if going to class is not easy or possible.
Khan Academy – with thousands of free online lectures (including Intro to Exercise, 11 Major Muscle Groups and Anatomy of a Neuron). See http://www.khanacademy.org/
Coursera – a social entrepreneurship company that partners with the top universities in the world to offer courses online for anyone to take, for free. See https://www.coursera.org/
MIT OpenCourseWare – Massachusetts Institute of Technology’s web-based publication of virtually all MIT course content is open and available to the world with over 2,000 courses. See http://ocw.mit.edu/index.htm
Editor’s Note: This series by clinical psychologist Dr. Helga Hemberger* will explore various aspects of getting in good ‘mental condition’ when living with a debilitating neurological condition, by providing ideas and tools for managing stress, improving mood and supporting a positive outlook. We all know to floss and brush to keep our teeth in good shape, and what happens if we don’t … but do we know as much about ‘mental hygiene’ as we do about ‘dental hygiene’?
Dr. Helga Hemberger
Helga writes:
I am constantly impressed by the resilience and strength of people with a progressive condition. Being diagnosed with HSP presents a huge life challenge for many. But how do people react? How do you cope in such a situation?
A person’s usual pattern of coping with stress may not be enough to negotiate strong feelings of anxiety, disbelief, sadness, anger and guilt that are common following diagnosis. Emotions may feel very close to the surface for some time. Thoughts are often racing and many don’t feel strong enough to cope. Some look for support from family and friends. Others throw themselves into work or withdraw. Different people react differently, and they are all perfectly normal reactions.
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How did you cope with learning you had HSP?
What did you do to help cope?
What worked and what didn’t?
You can share your thoughts on the questions in this series in the Comments section at the end of the article.
In so far as we are all different, reactions to a diagnosis such as HSP will vary. We come from different family backgrounds, hold different beliefs about illness, have very different levels and quality of relationships and support in our lives. Some people have unhelpful expectations of themselves, others and/or the world that can interfere with the process of adjustment, e.g. a person with very high standards or who has been expected to show stoicism in the past may have an expectation that they ‘should cope’ and are less able to acknowledge not being okay.
Did you have expectations of yourself or others?
Did you adjust your expectations over time?
How did that go?
Difficulty in adjusting and coping often shows up as:
Increasing negative thoughts (self-critical thoughts or hopelessness about the future)
Persistent low mood – feeling down all the time
Anxiety and stress
Deteriorating confidence
Sleep or appetite disturbance
Relationship difficulties.
Did you have difficulty adjusting and coping?
How did that show up?
In subsequent articles, we will explore ideas and tools for good mental health through exercise, diet, sleep, awareness, relaxation, thoughts, decision-making, self-image and self-worth, needs and relationships.
If you feel persistent stress, low mood or anxiety, see a doctor.
*Dr. Helga Hemberger is a Clinical Psychologist who provides neuropsychological assessment and therapy for people with neurological injury, illness or disease, their family and carers. Since completing her clinical training in 2006, Helga has worked mainly in neurology and rehabilitation settings including at the National Hospital for Neurology and Neurosurgery, Queen Square, London. She is registered with the Psychology Board of Australia and is a Member of the Australian Psychological Society, APS College of Clinical Psychologists and the International Neuropsychological Society. Helga has two Sydney locations – Annandale and St. Leonards.
People who get a motorised scooter as their walking ability declines often say how wonderful it is to be able to go places and do things that they thought they may never do again; to regain lost freedom, mobility, and confidence.
Steve loading his scooter onto the rack. Canine companion Sumo supervising.
For those who also have a scooter rack fitted to the car, the benefits of having a scooter can be multiplied. With a scooter rack, you can take your scooter with you on outings, visiting friends or relatives, or going on holidays. You can do things and go places that would otherwise be impossible or unmanageable… things that have perhaps not been on your list for quite some time.
Steve transporting the rack
Manufacturers recommend a full-size family sedan as a minimum to handle the 150 kg Load (approx) of scooter and rack combined. It takes 2 people to mount or dismount the rack (43 kg) from the car, although it can be left on for extended periods as it locks upright when not in use. There is a lot of information on the different websites, including photos and videos, detailed specifications, and frequently asked questions. Cost of a rack is around $1,500. Racks are also available for wheelchairs.
HSP community member, Steve Lunn, said: “Being able to transport my scooter has improved my quality of life. It has made it possible for me to enjoy many of the activities that most people take for granted. The scooter rack gets used about once a month and reopens some doors that have closed over the last few years. Without the scooter and the rack I would not have been able to take the driving holiday through the Flinders ranges and the Eyre Peninsula that we recently enjoyed. ” (Read about Steve’s trip on his blog: hsptraveller.blogspot.com.au).
wheeled stand makes it easy
Steve also said:
The car needs to be fitted with the correct towbar – a Hayman Reese 50mm hitch is recommended by the manufacturer.
With the rack weighing 43kg, my wife and I found it awkward to fit onto the car. With a little thought and the help of a friend with a welder, we built a stand on wheels to move the rack around and I can now hitch the rack to the car with no assistance in around 10 minutes. The rack could be left on the car in the tilt up position, but since I don’t need it all that often, I prefer to take it off. More details and pictures of the mobile stand are on the blog. Editor’s Note: some racks now come fitted with wheels for ease of transport.
A 10-year-old boy from Victoria has realised his dream of playing football with his friends despite having HSP. Here is his story from the local newspaper, the Wyndham Weekly.
Footy fanatic: William Bell has finally realised his dream of playing Auskick.
THERE’S no wiping the smile off William Bell’s face. The Wyndham Vale boy, 10, has always wanted to play Auskick with his friends, but until four months ago it was an impossible dream.
William has spastic paraparesis, a rare neurological condition that causes difficulties with the control and power of his legs, similar to the effects of cerebral palsy, and requires the assistance of crutches to walk.
William’s battle was first featured in this newspaper in 2007, when his mother Donna Strong appealed for the community to help raise money to install a pool in their backyard to allow William to get swimming therapy. Wyndham residents opened their hearts and $10,500 was donated.
In the past five years, William has undergone countless hours of therapy in the pool and had surgery in 2010 to extend his muscles and remove the tightness in his legs.
In April, he finally started playing Auskick at Werribee Football Club with his friends. Until then, the avid Richmond fan had been making do with throwing a football around his backyard with his mum because he couldn’t let go of his walking frame to kick the ball.
Ms Strong said being able to play was a dream come true for William.
“He still can’t pick the ball up and kick it but he kicks it along the ground. He just loves it.”
William also had the chance to take to the field with his teammates at half-time of last month’s North Melbourne-Carlton clash at Etihad Stadium.
By Corrie Pelc Valley Community Newspapers writer corrie@valcomnews.com
If Nike needs a new spokesperson for their “Just Do It” campaign, they should look no further than 15-year-old Carmichael resident Connor Aguilar-Poggetto.
Connor waterskiing
That’s because when not in class as a sophomore at Rio Americano High School, Connor is on the water perfecting his 360s, 720s, wake fronts and wake backs as a competitive disabled water-skier.
“Water is my nirvana – once I’m around a boat or on the water, I’m calm,” Connor said. “All I think about is what’s on the water right now and what I’m going to go do.”
Facing Challenges
According to his mother, Dianna Poggetto, at the age of 4 Connor was diagnosed with a rare disease called hereditary spastic paraparesis (HSP), which normally effects people in their 40s and 50s. “Primarily what that means is that the brain doesn’t know Connor has any muscles from the knees down – it’s not sending the proper signal,” Poggetto explains.
Poggetto says because the disease affected Connor as a child, he has had a number of skeletal issues causing him to have numerous surgeries throughout the years. “There were years where he was sitting in the hospital for a good month just with different body parts broken in order to just straighten out his skeletal system,” she says.
Right now although Connor mainly uses a wheelchair, he does have some mobility. For instance, Poggetto says he can put his wheelchair in their car and walk around it. However, being HSP is a degenerative and progressive disease, some days Connor loses the ability to walk even that short a distance, and at some point he may become completely paralyzed. “As he’s gotten older, we’ve accepted the fact that you’re going to have different challenges with your body and that’s where we are right now,” Poggetto says.
Finding a Passion
Despite her son’s obvious challenges, Poggetto does what she can to give him and her family a sense of normalcy. “Life goes on – he still has chores, he still has the responsibilities of living in a household,” she explains.
Connor also began getting involved in something most kids do – sports. Connor says he first began waterskiing when he was about 6 years old. At first it was just for fun, but about two years ago he started to take it more seriously when he began to train for competition. “I actually said OK, this is what I’m going to do and I’m going to go out and do this,” he adds.
Connor’s specialty is trick skiing, which in competition does not allow repeat tricks. “You have to have a big repertoire of tricks,” he says. Some of Connor’s favorite tricks are the wake 360 where he goes up on a wake, does a 360 in the air and lands. He also enjoys 720s, wake backs and wake fronts.
Rather than standing on his skis, Connor stays in a seated position and uses a standard wakeboard mounted with a special cage that he can sit in. From there, Connor says the tricks are all about a lot of handgrip and body positioning. “If you can hold on to it and you hold your body in the right position, you’re going to land a trick,” he says.
A Winning Spirit
This past August, Connor competed against 26 other skiers from across the United States in the 2012 Disabled Waterski Championships held in Elk Grove, and came in second in his division.
During the Championships, Connor was awarded the Royce Andes Award, which Poggetto says is given every two years to an up-and-coming skier “who really symbolizes what disabled skiing is all about.”
“That is given to the best youngest national skier who has the most potential to go all the way, so that in itself is a huge honor to get,” Connor says.
She explains the award is named for Royce Andes, a former barefoot water-skier who broke his neck and became a quadriplegic, and who created disabled waterskiing. “He lives up in the Live Oak area and so he has seen Connor ski from when he was 6 and actually built him a smaller cage,” she says. “So to receive that award meant more just because we have known Royce through the years.”
And if that wasn’t enough, at the end of the Championships Connor was named one of 11 members of the 2013 US Disabled Waterski Team, which will compete in Milan, Italy, July 1-7, 2013, making him one of the youngest athletes to be named to the team. “I was speechless – it hasn’t even really set in yet for me,” Connor says about being named to the world team.
For the world competition, Connor says he will be ramping up his training – literally – as he’ll be working on jumps and tackling the back flip. “If I can land a back flip pretty quick, then I’ll do a back flip to revert, which is doing a back flip and landing backwards, so I’m super excited to start doing that,” he says.
Learning tricks like this will take patience, which Connor says is something he’s learned quite a bit about through his competitive waterskiing. “If I rush a trick, I probably am going to mess up on that trick, so smooth and methodical is faster,” he explains. “I’ve brought that into a lot of aspects of my life – doing homework, doing schoolwork in school, doing things around the house. The smoother and easier you flow, the faster you’re going to go.”
Looking to the future, Connor plans to continue to water-ski and study sports medicine once he graduates high school. He plans to just go for it, which is also a message he hopes to give others afraid of trying new things. “Sometimes you have to overcome your fears – just go for it and you can create something out of nothing,” he says.
People with physical disabilities who participated in adapted sports had significantly higher quality of life and satisfaction with life than non-participants.
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This research measured the life satisfaction and quality of life for 30 disabled participants in adapted sports and 30 non-participants.
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BACKGROUND:
The lack of controlled trials in the relationship between participation in adapted sports, and quality of life (QoL) and life satisfaction in people with physical disabilities encouraged us to consider conducting this study.
OBJECTIVE:
The aim of this study was to compare the QoL and life satisfaction scores between people with physical disabilities who participated in adapted sports and those who did not participate in any adapted sports.
METHODS:
This cross-sectional controlled study included 60 individuals with physical disabilities (paraplegia and amputee). Participants were divided into two groups based on sports participation and non-sports participation. Group one included 30 disabled elite athletes who participated in adapted sports. The control group included 30 disabled individuals not involved in any adapted sports. We compared scores on the World Health Organization Quality-of-Life Scale (WHOQoL-BREF) and the Satisfaction With Life Scale (SWLS) between the two groups. Participation in the community and QoL was examined as a reflection of participant’s priority on sports participation.
RESULTS:
We found that WHOQoL-BREF physical, psychological, and social domain scores were significantly higher in group one than in the control group (p < 0.05), whereas environment domain scores were similar (p = 0.13). Moreover, SWLS scores were significantly higher in group one than in the control group (p < 0.05).
CONCLUSIONS:
These results showed that people with physical disabilities who participated in adapted sports had significantly higher QoL and life satisfaction scores compared to people with physical disabilities not involved in any adapted sports.
If you’re one of the millions of drivers who rely on wheelchairs for mobility, you know you’ve got quite a few choices to consider when it comes to conversion vehicles. These days, sedans, coupes and SUVs may be converted to accommodate drivers with a wide range of mobility challenges.
And then, of course, there are full-size vans and minivans, which are the granddaddies of the conversion segment. Though they continue to be popular choices, they’ve been overlooked by some mobility-challenged drivers who prefer the trendier, more stylish look of certain sedans and crossovers.
Picking the right type of vehicle for your disability and your lifestyle is important. It’s a decision that could have far-reaching effects on your health and your finances, and as such, it shouldn’t depend exclusively on your feelings regarding a vehicle’s image or appearance. For mobility-challenged drivers, function trumps form by a very wide margin.
Here are five questions to consider as you evaluate conversion vehicles.
1. How severe are your mobility challenges? The extent of your mobility challenges will play a major role in determining which vehicle type is the best match for your needs. For many disabled drivers who are able to get around without wheelchairs — and some who may rely on wheelchairs, but who have good upper-body strength — sedans, coupes or SUVs may be solid options.
Mobility-challenged drivers who aren’t in wheelchairs will appreciate the accessible seat height offered by many sedans and coupes. And the AWD available on many SUVs can make for safer travels in rain and snow. But those in wheelchairs will want to keep in mind that seat height isn’t an issue when you have a van’s ramp to get you into and out of a vehicle. And if you frequently face rough weather, know that there are minivans (like the Toyota Sienna) available that offer AWD.
The main advantage to choosing a sedan, coupe or SUV is financial. “Those solutions are less costly compared to a fully converted wheelchair-accessible van,” says Doug Eaton, president/CEO of Vantage Mobility.
Nick Gutwein, president of Braun, agrees. “It’s a personal decision for the customer, and certainly someone with minor mobility challenges may fare well in a sedan. It’s a decision for the individual, his or her family, and — we’d recommend — a decision made with the help of an expert at a mobility dealer. For individuals who have the necessary mobility to transfer, a specialty seat and scooter/wheelchair stowage lift can be a viable, less expensive option [than a conversion van].”
2. How important are practicality and convenience? Though they may be less visually appealing than other types of conversion vehicles, conversion vans and minivans offer superior practicality and convenience since they typically don’t require drivers to hoist themselves from wheelchairs to seats. This isn’t the case with many sedans, SUVs and coupes.
“Generally speaking, a minivan or van is more practical, particularly for those individuals in wheelchairs,” says Dave Hubbard, executive director and CEO of the National Mobility Equipment Dealers Association (NMEDA), an organization dedicated to monitoring the safety and reliability of conversion vehicles. “[Drivers] do not have to transfer from a wheelchair to a seat, as they can drive from the wheelchair. Plus, the additional space is ideal. The wheelchair does not need to be broken down when storing in the vehicle.” This makes transferring from wheelchair to vehicle not only easier, but quicker as well.
3. Are you shopping for both current and future needs? Many mobility-challenged drivers suffer from conditions — such as multiple sclerosis, cerebral palsy, etc. — that can result in diminishing strength and agility as the years go by. If you’re one of these drivers, it’s important to keep this in mind as you shop for a vehicle. Today, you may have the mobility to easily transfer to a sedan, but that may not be the case two or three years from now.
“We encourage our customers to consider both their present circumstance and future condition, as well,” says Gutwein. “This is an investment in a vehicle, so be honest with what is needed not just now, but two, five, 10 years down the road. Will you have the same strength and energy level? If you travel with a caretaker, will they still have the ability to help you transfer and stow your wheelchair or scooter? These are the critical questions to ask when making this decision.”
Also, keep in mind that while your disability may not be one that naturally worsens with time, it may be exacerbated over the years by the daily ritual of transferring from wheelchair to vehicle. “When you think about someone in a wheelchair transferring in and out of their chair multiple times a day to get in and out of a vehicle, it is taxing on the body,” says Eaton. “With a wheelchair-accessible minivan, they can remain in their chair without having to transfer.”
Gutwein offers a similar perspective. “It’s important to recognize that, over time, the wear-and-tear of months, years, maybe decades of transfers can result in very serious injury to the shoulders. That’s why we regularly hear customers say they wish they’d made the switch to an accessible van years ago. The only energy expended is to press a button, wait for the ramp to lower and then roll up and into your position. It’s just that easy.”
4. What’s the weather like? It’s important to consider how well-suited your potential new conversion vehicle is for use in your particular climate. Conversion vans have a key advantage over other vehicle types for those who regularly face rough weather, since they don’t require the driver to get out of or stow the wheelchair.
“Think about severe heat, or blistering cold,” says Eaton. “What about rain or snow?” With sedans, coupes and SUVs, “you are exposed to the elements that much longer when you have to get out of your wheelchair to transfer and then get your chair stowed.”
5. Have you gotten the help of a qualified mobility dealer? It’s impossible to overstate the importance of working with a qualified mobility dealer when deciding on a conversion vehicle. A mobility dealer knows the full range of options available to shoppers and is in a position to tell you which choices suit you best. This kind of knowledgeable guidance is essential if you hope to choose a vehicle that will serve as a useful companion both today and years into the future.
“Similar to a physical or occupational therapist, a mobility advisor will ask the right questions [and] take the right measurements,” says Gutwein. “Based on what a customer’s condition is and what they want out of their vehicle, they’ll prescribe the best mobility option. It’s an essential step to getting on the road to independence.”
Eaton also believes that a mobility dealer is an important part of the mix, and encourages shoppers to do their due diligence when selecting a dealer. “We always recommend that customers physically visit the mobility equipment dealer: see their showroom, [have them] demonstrate their products and put faces with names.”
This is important, since not all mobility dealers are created equal. Start by choosing one that has been certified by NMEDA. That organization offers certification though its Quality Assurance Program (QAP), the only nationally recognized accreditation program that ensures mobility dealers meet the highest standard of service 24 hours a day, seven days a week.
QAP is based on the premise that consistent quality requires a systematic and documented approach. “The program was developed to elevate the level of dealer performance to reliably meet consumers’ transportation needs in the safest manner possible,” says Hubbard.
A QAP designation indicates that an enhanced vehicle modification or adaptive equipment installation is consistent with the highest industry standards. For example, QAP dealers are required to have certified welders if they perform modifications to vehicles, and to maintain records of all adaptive work. They’re required to provide 24-hour service to their customers, and must abide by the mediation committee’s decisions when a complaint is lodged by a consumer or a dealer. QAP dealers must also meet shop and facility equipment requirements, and have technicians who are certified for the equipment they sell, install and service.
Using whole exome sequencing, 70% of known genetic causes of autosomal dominant HSP were identified in a study of 300 HSPers, compared with 56% using current tests.
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This is a significant advance, but there is still a long way to go, the testing is relatively expensive and is not yet available in Australia.
The Study
Hereditary spastic paraplegias (HSP) comprise a group of clinically and genetically heterogeneous neurodegenerative disorders that share the common clinical feature of lower limb spastic paraplegia. At least ten genes causing autosomal dominant HSP are known to date, together explaining approximately 60% of cases. An additional 17 genes cause recessive and X-linked forms, with less certain proportional contribution.
Knowledge of frequency of HSP subtypes and genotype-phenotype correlation is limited thus far due to phenotypic pre-selection of most study cohorts and incomplete testing of known, especially rare, genes.
We have screened a large cohort of 300 autosomal dominant and other familial and sporadic HSP patients for mutations in the most common HSP genes, including SPG3, SPG4 and SPG31. Mutation negative families (n=100) were examined by whole exome sequencing, which sufficiently covered 98.6% of the coding area of all HSP genes. Several dozen rare conserved coding variants were identified across known HSP genes and we describe a number of unusual phenotypes in affected patients. All variants were evaluated for pathogenicity.
Applying whole exome analysis we were able to narrow the number or index patients without genetic diagnosis for autosomal dominant HSP genes from 44% to approximately 30%. Our in depth analysis of the exome results demonstrate that whole exome sequencing is a mature tool for mutational screening studies in HSP and beyond. In addition we begin to face new challenges of interpretation of data from single patients caused by the identification of variants in multiple HSP genes or in known genes of related disorders, including CMT2 and ALS.
SOURCE: from a Presentation at the 2012 MSG Annual Meeting (Muscle Study Group), University of Rochester Medical Center, Rochester, New York, USA
HSP Genetics in the Exome Era: Data on 123 HSP Exomes
Stephan Züchner,1,4 Michael Gonzalez,1 Fiorella Speziani,1 James Garbern,3 Tobias Warnecke9, Stephan Klebe,5 Sven Klimpe,6 Susanne Otto,7 Margaret Pericak-Vance,1 Peter Young,9 Ludger Schöls,2,8 Rebecca Schüle,2
1 Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL
2 Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research and Center for Neurology, Tübingen, Germany
3 University of Rochester School of Medicine and Dentistry, Rochester, New York
4 Department of Neurology, University of Miami Miller School of Medicine, Miami, FL
5 Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany
6 Department of Neurology, University Medical Center of the Johannes-Gutenberg University Mainz, Mainz
7 Department of Neurology, St Josef Hospital, Bochum, Germany
8 German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany
9 Department of Neurology, University Hospital of Münster, Münster, Germany
Malin Dollinger, Board Member of the SP Foundation in the US, medical doctor and HSPer himself, recently trialled a device to assist people with spinal cord injury to walk.
Malin writes:
Many of you may have heard of / be familiar with a robotic walking device, that was originally created for the military, so soldiers could carry heavy loads, but has lately been adapted to allow paraplegics to walk. It is controlled by its own internal computer, which is programmed for each individual patient. If you do a Google search for “Ekso” you will find information/ see the video. It is an exoskeleton, that is it fits around the legs and feet, and straps to your chest and abdomen, and weights about 50 pounds. When fitted and working properly, the machine recognizes from your body movement/ leaning/ posture what you want it to do, and will stand you up from a sitting position, and will tell your legs to move in a walking mode, with your continuous instructions by body posture and leaning, to enable you to walk. The device bears its own weight, so you don’t need to lift anything. There have been some amazing and important successes with paraplegics, in particular with spinal cord injuries.
Ekso exoskeleton
That being said, this device looked so interesting, important, and practical, not to mention useful, that I began a correspondence with the company in Northern California with the aim of trying out the device. It is currently not being sold commercially, but remains in clinical trial. A few weeks ago I spent an hour with a designated physiatrist [physical medicine physician], to see if I would qualify for a formal trial. He took many measurements of range of motion and strength [everywhere!], and I was subsequently accepted for the trial.
I was greeted by a team of six physical therapists, including one from the Ekso company, who spent an hour making even more complete and elaborate measurements of my strength and range of motion, my legs in particular. There were some limitations of range of motion of my right lower leg. The device wrapped around my legs, needed to have many adjustments made to fit my body, and had knee pads, foot plates, abdominal binder, shoulder straps, and various other fastening devices, all tailored to me. Once the apparatus and my body were “assembled,” there was no voluntary movement possible unless the on-board computer was told to do so, either by the therapist or by me, via leaning/shifting weight/etc. They placed a large heavy-duty walker around me, to hold onto. After much time was spent making adjustments, it was time for me to stand up. They told me what to do, and what not to do, and in phase #1 they control the computer. The told the device to “stand up!” and so it did, with me inside. Then, in the standing position, they made more measurements of range of motion of my lower legs. It seems that the initial evaluation showed that I lacked about 7 degrees of [backward] knee flexion in the right leg, thus when you walk, you put one forward while the other is “behind” you, then you take the behind foot and put that forward, etc. The 7 degree flexion lacking was slightly less when I was “inside” the device, but this became a major problem. If I could not tell the machine to “walk,” not having sufficient flexion in both legs to correspond to my taking successive steps, the machine’s computer could not be programmed to recognize that the back foot now needed to step forward and become the front foot, etc. This is somewhat analogous to “training” the WalkAide device, a little box worn below the knee, that tells the lower leg muscle to lift the foot up [prevent foot drop] whenever you start to take a step. By comparison, the WalkAide is immensely simpler; you’re moving only one muscle to make the toes go up, alternately. The Ekso is extremely complex, moving your ankles, your knees, your hips, and your entire body, and it knows when your torso/chest is upright and aligned. It keeps track of the angle of every one of those areas/joints, and responds appropriately.
At that moment, I realized, and they confirmed, that because of the slight limitation of the range of motion of my lower legs, I would not be able to use the device, since I could not make its computer understand and respond to my too-limited motions. I give them great credit and appreciation for their time, energy, and expertise. They were kind, courteous, and always reminded me that they were there to help me and to protect me from any injury [what happens if I fall in this contraption during the test] ..not possible: the whole thing is fastened to a steel track overhead, like a rock climber or a gymnast or diver practicing, so if I would start to tip, it would catch me.
Conclusions: I’ve had HSP for some 20 years, which is enough time for scarring in the muscles to occur, with limitation of the range of motion. This is the telling reason why this did not work for me. And this seconds the common admonition about getting regular physical therapy that keeps your muscles “loose” and non-contracted. So people need to try this device much earlier, before chronic contractures and limited range of motion occur. Of course no one was thinking of HSP or PLS when this was invented; spinal cord injury was the rationale. Spinal cord injury has the attribute that the date/ moment of the injury/ beginning of paraplegia is precisely known, and once the healing has occurred from the injury, there could be a trial of this device at a time when it could do the most good, before scarring and contractures.
Related article http://www.nytimes.com/2012/09/12/technology/wearable-robots-that-can-help-people-walk-again.html?_r=0
