Newsletter - June 2006
In this Issue
Another busy year is half way through. Staff and volunteers have been involved in the usual fundraising activities, and our second Garage Sale to be held on the 8th July has been well supported by the generous contribution of articles for sale from many people. Thank you all for your donations of goods for this worthy cause. For details of all our fundraising activites please refer below.
Please continue to support our Association by renewing your membership for the 2006/07 financial year. Support from your Membership is vital to our overall success.
Annual General Meeting: The AGM is to be held on the evening of Tuesday, 12th September and will coincide with the Association's 30th Anniversary. At a recent Management Committee meeting members agreed on a venue for the AGM and Celebration Dinner. Details will be posted out with your Invitation to the AGM sometime in August.
I am delighted to advise you that a very special Guest Speaker Dr Edmond Chiu has made himself available to address the meeting. Dr Chiu has been one of our most supportive professionals for many years and although retired and living in Melbourne, has never relinquished his support for families affected by Huntington's Disease in Australia.
Please keep the 12th September free as we are hoping for a good attendance at the AGM and 30th Anniversary Celebrations.
Strategic Plan - The Strategic Planning process has kept us busy during the past 3 months and my sincere thanks go to families, staff, volunteers and professionals who contriubted valuable input to the Plan.
The final results and details of the Strategic Plan will be our blueprint for the future success of the Association in Queensland. Not only will it give us a new direction in some areas, it has also confirmed that the Association has been successfully providing care and support to families for the last 30 years.
Thank you all for your support. Please don't forget to renew your Membership fees which are now due.
I look forward to seeing you at the AGM.
Ray Bellert, President
One of the areas we don't discuss at length with our readers is the education we provide to a wide section of the community about HD. For many years our newsletter has given an opportunity for us to provide information relating to research and other topics of interest. We are aware that a large percentage of you really benefit from this form of communication and education.
Other avenues for education include telephone and written information provided to community care workers, nursing homes, hospital employees, neighbours and friends who are providing support in whatever form to our clients with HD in Queensland.
We are fortunate to have involvement with approximately 12-15 third year medical students each year. These students spend in the vicinity of 20 hours each at our Annerley Centre, learning first hand about the complexities of HD and the variety of symptoms experienced by our clients. Students usually come to us in pairs and assist with our Day Respite Program.
The Welfare Staff also provides education to groups of interested people by way of video and lecture sessions. The majority of this education is with staff providing day to day care for our clients. From time to time we also present at hospitals, universities and community groups such as Rotary and Lions. As HD is not widely understood the opportunities for discussions with interested personnel has high priority with all Welfare Staff.
As usual life is busy, however we are more than happy to assist those of you who feel we can be of help.
As indicated by our President in his front page article, we have been involved in Strategic Planning to enable us to continue to provide our clients with a first class service across the board. Gwen Pratten, Welfare Officer
AHDA (Vic.) Inc. are very happy to announce that they will be hosting the National HD Conference in Melbourne this year. The Conference will be held at the Hotel Y in Melbourne on the 16th and 17th November, 2006. This is a very important event in the HD Association calendar. The program includes:
The Association will be represented at the Conference by Welfare Staff.
If you are interested in attending please contact the Welfare staff at the HD Centre and we will forward you a registration form.
Full Registration $180
By Katie Reid, Communications
As worldwide research brings us closer to a treatment for Huntington disease with each new compound discovered and brought forward, there arises an evergrowing need for participants in clinical trials to test these new compounds. You can provide support, through financial contributions to enable clinical trials to occur, and also through participation in the trials. Clinical trials are happening across the country and individuals with HD are helping make a difference in the fight against Huntington disease (HD).
Margaret Gibson is one person who wants to make a difference and help others like herself with HD. Margaret is a participant in the TREND-HD trial that began in March 2006. This clinical trial, taking place in both Canada and the US, is determining the effects of Ethyl-EPA on the motor (movement) signs and symptoms of HD. Margaret had wanted to participate in a clinical trial for quite some time and continued to ask her doctor each time she visited if there were any new studies coming out in which she could participate. Her persistence paid off when, in November 2005, she found out about the TREND-HD clinical trial.
Margaret was a perfect candidate for the trial as it involves persons of 35 years of age or older who have mild to moderate HD. The research subjects needed to have early signs of HD and be independently ambulatory (walking) and fully selfsufficient in activities of daily living such as eating, dressing, and bathing. Margaret hasn't let HD define her life and continues to remain active by volunteering at the HSC National office and at the gift shop of a local hospital. Keeping her mind active, Margaret also plays euchre and bridge and enjoys taking walks.
Margaret, like most people did not know anything about HD until her father was diagnosed with the disease. Diagnosed in 1999 and dying one month after diagnosis, Margaret knew that there was a 50% chance that she carried the gene and therefore the disease. Margaret decided to get tested so that her daughter, Teresa, would know if the gene had been passed on to her before she had her own children. Margaret tested positive for the gene. Since that time she has done all she can to help in the fight against the disease.
The TREND-HD trial is a controlled randomized trial. One group of patients receives the experimental drug, while a second group, the control group, receives a placebo. Patients are randomly assigned to receive the experimental drug or the placebo. The study is double-blind meaning that neither the patients nor the researchers know who is the getting the experimental drug.
The 12-month study includes a 6-month placebo controlled phase (above). This is followed by another 6-month observation period in which all participants will receive Ethyl-EPA (2 grams per day total daily dose). The clinical study is conducted by The Huntington Study Group, a worldwide not-for-profit group of physicians and other clinical researchers who are experienced in the care of HD patients and dedicated to clinical research of HD. The study is sponsored by Amarin Neurosciences in Scotland, U.K., a subsidiary of Amarin Corp, PLC in London.
For more information on clinical trials happening in North America please contact The Huntington Study Group at 1-800-487-7671 or pimozide.lowpricedrugs.info, or talk to your doctor.
While there are medications to help relieve some of the disease symptoms there is no known treatment to slow the progression of HD. These clinical trials give hope that a treatment will be found. As Margaret's journey through this clinical trial continues we will be following her and providing updates.
Acknowledgement: *Horizon*, Huntington's Society of Canada, No. 119, Spring 2006.
By Don Lamont, CEO & Executive Director
This article represents a layman's view about why meaningful treatments, and perhaps even a cure, will likely be available to the Huntington community within the next decade. The answer lies with the nature of Huntington disease (HD), leadership, resources and the collective strategy and process being followed to find solutions. While HD is a devastating illness, we are fortunate in the sense that we have a clear target that can be traced back to a specific gene. Other disorders often have various starting places and that can complicate their journey.
Since the gene was identified back in 1993 more research has been done in the past 13 years than had been done in the previous 120 years. The HD movement is highly motivated and driven to succeed, and this is moving people to act now. When people know how devastating HD is and then see the potential to find solutions, it fuels an acute sense of urgency. Many leaders in the family, donor and scientific communities across the world have stepped forward to meet the challenge. These people want to make a difference and dream of the day when significant, life changing therapies are found.
One such individual is the multi million-dollar philanthropist behind the High Q Foundation and CHDI in the US, which are relatively new on the scene, but have quickly become a driving force within the worldwide movement. To do our part, The Huntington Society of Canada (HSC), has mounted a special five-year campaign, the Road to Triumph, involving chapters, families and the community in raising $17 million with a dedicated portion of the campaign devoted to the international research effort.
The universal goal for the discovery strategy is to rapidly find therapies that slow or stop the progression of HD. The process being followed by the HD community to achieve this goal is first rate. There has been a great deal of collaboration internationally. Various international coordinating bodies or forums have been created- International Huntington Association, Huntington Study Group, European Huntington Study Group, and The Huntington Project.
As a result there has not been as much unproductive overlap and duplication in the search as there might have been otherwise. Instead, scientists have learned from one another and produced greater synergy and focus - and this also hastens the discovery process.
Table one depicts the HD discovery process. While the steps leading to therapies are listed in sequence the various elements often take place simultaneously.
Step 1: Attract Researchers and Companies
Families have always been there, but step one in the process is to attract scientists, donors and drug companies to the cause. HSC, for example, spent a good proportion of its research dollars over the years to this end on pre-doctoral studentships. Funding students is an important step in recruiting young people into the study of HD. Worldwide, this tactic is also working. Fifty studies related to HD were published in the 1970s. There were 350 in 2005. A few years ago no drug companies were interested in HD and now about 25 are involved.
Step 2: Basic Research
Here the objective is to explore the basic biological processes, and identify molecular targets and key pathways, e.g., energy production, folding of proteins, cell processes, gene set production, and cell mutation as they relate to HD. This step involves the use of animal models as well as new techniques to measure changes in behaviour, structure and function of neurons to screen potential approaches for the treatment of HD. A great deal of the work underway is still in this phase. Even though we've located the gene there is uncertainty about the pathways the disease process takes. The closer the research gets to identifying early disease processes the better it is for discovering therapies that significantly slow or stop the progression of HD. This basic research stage is of the greatest importance. It is like following a map; if you go a wrong way you can go a long way from your destination. This stage helps ensure that our research is heading in the right direction.
Step 3: Applied Research
At this stage the Huntington strategy is really being stepped up. Applied research is the middle step that focuses on issues related to translating the wealth of basic discovery research into candidate molecules worthy of clinical evaluation in humans. It is where chemical and biological routes or leads uncovered through basic research are explored further. At this point, the focus gets more specific and turns to drugs, proteins, cell and gene therapies, RNA, etc.
The High Q Foundation located in New York City recently spawned a new non-profit organization named CHDI. At its recent inaugural conference CHDI introduced a suite of tools it is making available to the research community to leverage their work including a searchable Internet database about recent findings; a common mouse model for more consistent basic research; biomarkers to measure disease progression; and securing compounds of consistent quality for use in trials.
CHDI brings scientists together to share information and they pair up scientists working in one promising area, such as a biologist, with perhaps a chemist to round out their work. In concert with the High Q Foundation, CHDI also funds the most promising projects using pre-set criteria. In a sense, they operate like a mutual fund investing both for the long and short term, trying to pick winners, but staying diversified across a number of asset classes or approaches to treatment.
Again, this stage reinforces the importance of the basic research completed in Step 2 ensuring research is headed in the right direction.
Step 4: Recruit families for studies and trials
As work progresses at the front end of the discovery process, activity is underway toward the back end to ensure sufficient numbers of people are available to test potential therapies that make it through the first few stages of the discovery process.
About 25 compounds are attracting considerable interest today. The Huntington's community is relatively small and preplanning is taking place to ensure there won't be major bottlenecks when more therapies enter the queue for testing simultaneously.
It's best to document the progression of the disease in the individual (including pre-diagnosis) before clinical trials start. Understanding the progression of HD allows researchers to fully see the impact of the therapies on the disease. Therefore families are being recruited now to measure their symptoms to pave the way for their participation in clinical trials. People are needed at all phases of the disease. It is estimated that the movement is at about 20% of its capacity to involve patients and many more at the early phases of HD are needed.
Step 5: Clinical Research
This step is to actually select candidate drugs for testing in humans and to conduct the clinical trials. Key criteria include the potential connection to clinical outcomes, whether the drug is among the best in its class, toxicity, and cycle time.
While it can take 7 years to conduct basic and applied research on a therapy before human trials, it does not cost as much as clinical research. It requires approximately 2 years for just the first phase of a clinical trial for a total cost of about $17 million per therapy. Sample compounds under consideration include: Creatine (used as muscle builder); Ethyl-EPA (modified essential fatty acid); Cysteamine (antioxidant) and CoEnzymeQ (antioxidant).
The strategy to produce therapies is working. A drug called Tetrabenzene, which suppresses involuntary movements affiliated with chorea, was recently licensed in Europe, and has been available in Canada since 2004.
Step 6: Treatment Delivery Research
There is another category of research not involving actual therapies, but which is important in ensuring treatments are delivered effectively. There is the need to ensure all elements of care from medical to services are optimized to focus on the individual with HD and their family. The best way to optimize the elements of care is through creating multi-disciplinary teams, from the genetic counsellor to the neurologist, and psychologist to the swallowing therapist, speech therapist and dietician, etc., all in one location.
This approach allows for the creation of a core program for a person with HD, which produces better results for the treatment of the disease.
There has never been a better time in the history of the fight against Huntington disease. We are closer than ever before to finding a treatment for this devastating disease and eventually a cure. Your donations help drive this strategic process and allow HSC to play a part in this worldwide fight to create a world free from Huntington's.
Acknowledgement: *Horizon*, Huntington's Society of Canada, No. 119, Spring 2006.
Dr Keith Andrews MD FRCP, Director of Institute of Complex Neuro-disability, Royal Hospital for Neuro-disability, London
Food in HD
Whilst it is uncommon for the stage to be reached where swallowing food becomes impossible the amount of time required in feeding can become very prolonged. How well the person manages to get sufficient food is therefore dependent on the amount of help that is available. Also the effort in feeding over such a prolonged period of time can be quite tiring.
Methods of Feeding
There are two main methods:
The second method is known as a Percutaneous Endoscopicalley-placed Gastronomy tube - more commonly referred to as a PEG tube. This is a tube that is passed into the stomach through the skin of the abdominal wall with the guidance of a gastroscope (a flexible 'telescope') which is placed into the stomach through the mouth. This ensures that the doctor can see that the PEG tube is pushed through the skin into the right part of the stomach. The advantage of this method is that once it has been inserted there is no discomfort and much less chance of food spilling into the lungs. Also, once in place, the tubes can function well for several years before requiring replacement. All nutritional and fluid needs can be given by tube using specially designed liquid formula. Some food or drink can still be given if it is safe to do so and the person wants it.
When should PEG feeding be considered?
Let us try to think this out. Let us assume that the tube is required for someone who is fully mentally alert. What are the reasons we would give for putting in a PEG tube? First it would be to maintain good health and prevent the complications of being underweight. There is also some clinincal experience that getting sufficient food and fluids improves the mental state, and relieves anxiety and agitation, with possible beneficial effects on choreic movements and psychiatric manifestations. Thus maintaining a good diet and hydration can improve quality of life.
But the need for feeding tubes rarely arises whilst the person with HD is sufficiently mentally able to make decisions. So what about the situation where the person with HD is no longer able to make decisions about whether to be tube fed or not. To a large extent the benefits are the same as for the person with mental capacity to make the decisions.
The real concerns arise in the very late stages, where there is deterioration both physically and mentally, when the decision is whether putting feeding tubes in is unnecessarily prolonging the deterioration phase when there is little or no discernible quality of life. Of course, the only person who can really say whether it is worthwhile is the person who has HD and needs the tube - but they are unable to tell us.
Of course it may be logical to put a tube in at a stage when the person is beginning to lose the ability to make decisions but still has the ability to have a reasonable quality of life. The problem then is whether there is any stage where it would be appropriate to remove the tube.
To remove the tube has enormous emotional concern for family and professional carers and therefore not a decision to be made lightly. It is much easier not to put a tube in than to make a decision at some stage that is inappropriate to continue tube feeding. But this may prevent the tube being used at a time when it would be beneficial. At present the law requires the decision to withdraw tube feeding to be judged by a Court in the case of people in the vegetative state. So this leaves the doctors and the clinical team with a dilemma of having no clear legal guidance on what is legal in the case of someone with Huntington's Disease.
So what will happen if you do not get sufficient food? This will depend on how much difference there is between the amount of food you need and the amount of food you can take in. If there is very little difference between the two then there may be a slow loss in weight over many months. The greater the difference between how much food you can get in and the amount of energy your body is using then the greater will be the weight loss. The consequences of this is that you will be more likely to get pressure sores and will be more vulnerable to get infections, especially chest infections which may lead to pneumonia.
The only person who can really say what is appropriate is you and therefore it is important that you do think out what you want to happen to you in the future.
But if you have reached the stage where you cannot make decisions, how can you have your say? This is where an Enduring Power of Attorney may be able to help.
Acknowledgement: HDA UK - Newsletter Issue 67 November 2005
By Kerstin Stieber Roger, PhD.
My study investigated how people with a diagnosis of Alzheimer's or Huntington's experience memory loss. Given an extensive review of the literature, it appears that very little work has focused on the daily experiences of people with memory loss. Upon receiving ethics approval for the study, twenty-two eligible people (five people with Huntington's) were interviewed individually and then again in focus groups. The interview focused on how other people responded to them given their memory losses, new strategies and challenges people might face, and thoughts about the future. The results that emerged demonstrated that people living with memory loss do have significant insight regarding their experiences. Four main themes emerged:
Some participants reflected on other family members who were living with or had died with a diagnosis of dementia comparing those experiences to their own. Some participants felt that the social changes or disabling declines they were experiencing were current and this recognition led to great emotion in the interviews; for others, the changes were still in the future. Many participants reflected on travelling, visiting family and engaging in new projects in the future; others spoke eloquently about how they viewed the end of life, and decisions they were making regarding end of life care. People with memory loss and those living with them know that being social and keeping meaningful relationships is part of being healthy - and yet, people's dignity has largely been ignored in the literature once they get a diagnosis of memory loss. If we begin to document their experiences, this will positively impact how we respond to them as people, and how we provide care for them as the memory loss or dementia increases.
This study could not have been done without the support of Sandra Funk (Director of the Manitoba Huntington Disease Resource Centre) and all the people who came forward to share their experiences. Thank-you!
Kerstin Stieber Roger, PhD. is in her second year as a Post Doctoral Health Sciences Centre Fellow at the University of Manitoba, Canada. She is being supervised by Dr. H.M. Chochinov at the Manitoba Palliative Care Research Unit, who is internationally recognized for his work on end of life and dignity.
Acknowledgement: *Horizon*, Huntington's Society of Canada, No. 119, Spring 2006.
By Sandra L. Funk, Directory, Manitoba Resource Centre
Memory is the ability to learn and remember information.
How memory is affected in Huntington Disease:
Persons with HD have the most difficulties with stage 3. They cannot effectively retrieve the memories from storage. It can be assumed that the knowledge the person once had still exists, although the ability of the brain to bring the facts up from storage is defective.
The severity of memory difficulties will vary from person to person. Some individuals will have only slight difficulties with memory while others may have severe impairment.
Strategies For Learning New Information:
1) Break complex information into simple steps.
Strategies For Retrieving Information:
1) Organizational Tools - make accessing information easier. Where memory is weak, try substituting organization.
2) Prospective Memory Devices - alert you to do things in the future.
3) Environmental Clues - change the physical surroundings to remind you of things.
Not all tools work for all people, so it's important to find what works best for you. Also, none will be effective if they aren't used on a regular basis. It is important to practice, practice, practice and make these memory management techniques a habit.
Other Strategies: Work on your focus and concentration - sometimes we forget things because we never really learned them. Frequently we only half pay attention. Improving concentration can enhance recall.
Memory aids like word or picture associations, may help. For example, if you want to remember a name, think of a word that describes the person and is associated with their name. Or try using mental pictures to aid memory. For example, to increase the likelihood that you will remember to close the windows before leaving the house, visualize a great deluge of muddy water flooding into every room through the open windows. Hold onto that image for a few moments and you are more likely to remember to close windows later.
This paper was developed as a handout for the Manitoba Huntington Disease Resource Centre's Information/Support Group session, May 27, 2003. Information was gathered from the following sources: *Understanding Behavioural Changes in HD: The Neuropsychology of HD & Strategies For Intervention* by Jane S. Paulsen & Dawn Stell-Fernandes, *Jiggling Your Memory* by Laurie Paine Stoneham, and *Tips to Improve Your Memory* a brochure by The Anne Ross Heath Resource Centre.
Acknowledgement: *Horizon*, Huntington's Society of Canada, No. 119, Spring 2006.
Acknowledgement: - Huntington's News, HD Associations of New Zealand, No. 93 June, 2006
Footnote - In Queensland it is compulsory for drivers diagnosed with a neurological condition such as Huntington's Disease to consult a Medical Practitioner to discuss all aspects of driving. This ruling is relatively new to Queensland, however it is being diligently persued and is the responsibility of the licence holder to seek medical advice.
Should a driver be involved in an accident or breach, the major area of concern is the withdrawal of Third Party or any other vehicle insurance cover if the driver has received a HD diagnosis, and has not contacted their medical practitioner.
This really is a very important issue for current drivers and does not necessarily mean endorsement or cancellation of a current Queensland Driving Licence.
Rotary Raffle - Car Trailer and Home and Gardening Equipment - value $4000.00
Thank you to those who sold tickets on our behalf. The lucky winner is Tim Ferris, Ticket No. 6202. A big thank you to the Rotary Club of Acacia Ridge for their support.
We encourage you to seek sponsorship on behalf of the Association. Once again competitors will don pink T shirts with *Supporting Huntington's Disease* and the logos of sponsors.
Contact Barb at the HD Centre, Florence Dannell House for more information.
Volunteers needed for Fundraising Events
Please consider this request and ring us at the HD Office if you are happy to volunteer.
JW Bell & Associates
The financial rewards from our Cork collecting during the last 12 months are not bad considering there was a period of time when we could not accept corks. This financial year we have raised $1300.00 and in addition to that have been able to stimulate increased awareness of HD in the community.
Just a reminder to keep up the good work and also to encourage your friends, local restaurants, clubs to collect on our behalf. We can always drop them a line thanking them for their efforts and providing information on the use of the recycled corks.
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