Newsletter May 2002
In This Issue
It is my pleasure to introduce our second Newsletter for 2002 and to advise you of some important changes that have occurred in the last couple of months. After nearly 4 years of service to the Association Cathy Dart, our Welfare Officer, has resigned to further her career in other areas.
As many of you well know, Cathy has been a tireless worker and has become a confidant and friend to many families and support workers. We will miss Cathy very much, and I know that you join with me in wishing her every success in her future endeavours.
To fill Cathy's shoes, we welcome Mrs. Kellie Chenoweth as our new Welfare Officer and we look forward to benefiting from Kellie's experience.
As advised in our last Newsletter, we decided to seek the services of a third Welfare Officer and have been fortunate in obtaining the services of Mrs. Tracey Beckwith to fill this part-time position.
Welcome Tracey and Kellie!
This expansion to our Welfare staff will not only provide a better service to our families, but will also allow the Welfare staff to spend more time in regional areas.
I am also pleased to announce that the Townsville Support Group has been operating for 10 years. An Anniversary Dinner was held at the Townsville RSL Club on Friday the 12th April to celebrate the achievements of the Group during that time.
We congratulate the Townsville Group for a "job well done" and thank all members for their contribution to the Association during the last 10 years - well done.
And so, dear friends, as you can see, we maintain a positive outlook for the future. Until next time, keep smiling.
As you will have read in Ray's article, we were sad to farewell Cathy Dart in March. I join with Ray and our families and staff in wishing Cathy every success in the future, and add my thanks to her for her commitment and loyalty during her time with us.
Over the next few months, many of you will meet with our new Welfare staff. Prior to Cathy's resignation, the Management Committee had decided to employ a part-time Welfare Officer to work 24 hours per week. The advertisement created a lot of interest and we finally appointed Tracey Beckwith to fill this position. During the interviewing process we met Kellie Chenoweth and she has been appointed to replace Cathy. In our next Newsletter, both Kellie and Tracey will introduce themselves.
The Management Committee thought long and hard over appointing a part-time worker to be based in Brisbane. Various ways in which we could better service regional areas were considered - one option was to co-employ with other support agencies in Townsville. However, for a variety of reasons, none of the proposals proved to be viable. One of the factors influencing our decision was from a financial point of view. Providing an office for a worker based in regional Queensland was going to be quite expensive.
Once the new staff members are trained and comfortable in their individual roles, both Kellie and Gwen, with Tracey holding the fort in Brisbane, will undertake regional visits.
I will have attended the National HD Meeting and Seminar in Freemantle, WA in April. These meetings provide an opportunity for State delegates to interact and liaise, discussing a wide range of topics and issues. Each State operates independently so there are quite a lot of differences in service provision, and it is at meetings such as these that we share our successes and failures.
Gwen Pratten, Welfare Officer
We were shocked to hear of the sudden death on the 22nd March, 2002 of founder and former Executive Officer of the Huntington Society of Canada, Ralph Walker. He was 63.
His unrelenting drive to help those affected by Huntington's was a result of watching his cousin suffer with the disease. As a high school teacher and guidance counsellor, Ralph also met students whose families were affected by Huntington's.
In 1977 he left his career in education to work full time as the Executive Director of the HSC until his retirement in 1998. However, Ralph continued to represent Canada at the IHA Meetings and in 1999 was made an Honorary Board Member of the IHA which he also helped found in 1974.
Ralph's contribution to the Huntington community can never be expressed adequately in words. Through his leadership, the Huntington Society of Canada has provided a wonderful model for all HD Associations throughout the world.
We will always be indebted to Ralph for his professionalism and support. We appreciate and shall never forget his willingness to share resources and ideas.
Our thoughts are with his wife and friend, Ariel, and his children and grandchildren at this time.
I have been an employee of the Association for almost four years and dragging myself away has been difficult. Fresh from uni in 1998 I was delighted to be offered the position of Welfare Officer for the AHDA (Q). This position has grown and developed as the Association has expanded providing a huge range of experiences and opportunities for me to develop my skills. I only hope that the majority of the people I worked with have experienced similar achievements.
Early this year the Association advertised a new position for a part-time Welfare Officer to be based in Brisbane. The response to the initial advertisement was overwhelming and we were delighted at the level of expertise and training that our advertisement had attracted. It was this response that inspired me to reconsider my own career development and some feelings that perhaps it was time for me to expand my knowledge again. I knew that my position and role within the Association would easily be filled by a well-educated and highly motivated professional. I also believed there would be benefits in efficiency for the Association to introduce and train two new employees at the same time. Two Welfare Officers working together with Gwen to assimilate information and 'learn the ropes' would minimise any interruption to the welfare services.
The Association has been very fortunate in securing the employment of Kellie and Tracey and I am very confident that these two energetic professionals will provide an excellent service. I wish both Kellie and Tracey all the best and congratulate them on their achievements so far.
On reflection this newsletter entry is a very different one to the February edition and I apologise profusely to anyone who has been inconvenienced by the sudden changes to the Welfare staff.
I would like to thank all of the families and the professionals who I have worked with for their perseverance, support and patience (you know what I mean!). Without your ongoing enthusiasm for the HD Welfare Service my work would certainly have been a lot more difficult. I would also like to thank the administration staff and committee for their enduring support and assistance. For a small gang you 'do a big job' very very well!
Keep up the good work all of you, take greatest care and I'll be hoping for the best of everything for each and every one of you. Kindest Regards,
Dr Neil Mahant, the first recipient of a grant from the NSW Association's Research Grants Program has provided the following update of research being carried out at Westmead Hospital.
It was announced at the Annual General Meeting that the Committee has decided to fund Dr Mahant for a further twelve months.
To date, 38 subjects have participated in the study. The data analysis phase is about to commence. The aim of this phase is to determine the feasibility of serial assessments of the participants already studied. Publication of this data is expected soon. Some early findings were presented at a Neurophysiology conference in March 2001
We are extending the neurophysiological analysis to look at the prevalence, clinical and neurophysiological features of tremor in HD. Occasionally people with tremor due to HD have been reported, but there has been no systematic study of tremor and no description of its neurophysiological characteristics.
Ethical approval for the study was gained early this year. Our collaborators in Melbourne are planning to come to Sydney in the near future.
The voxel-based morphometric analysis of brain MRIs in pre-clinical HD was presented at the recent World Federation of Neurology Research Group meeting in Copenhagen, and was well received. We demonstrated the VBM could detect very subtle changes in this group, and that the left side seemed to be more severely affected. These are novel and important findings. A manuscript has been accepted for publication in a major neurological journal (Brain).
We are planning to rescan the same group of subjects to assess the ability of this technique to detect the rate of progression in pre-clinical HD.
The Huntington Study Group has a large database of the Unified HD Rating Scale (UHDRS) assessments. They have sent us scores on over 1000 people, many of whom have had regular assessments over more than 2 years. We hope to determine which parts of the scale are best at monitoring the disease over time, and to examine whether the mode of onset (ie motor or cognitive/psychiatric) have an effect on the rate of disease progression. I am currently engaged in the statistical analysis of this data, and am planning to present the results at the American Academy of Neurology conference in April.
We hope that there will be treatments that slow, or even halt, the progression of HD. Our work will provide important information for the design of treatment trials, so that they can give us more reliable results sooner. The neurophysiology study will give insight into how different pathways are affected during the course of HD. The tremor study will document the prevalence and severity of tremor, and help to establish the causes (and therefore suggest possible treatments) of tremor in HD.
Many thanks to those of you who have taken part in the studies. Thanks also to the AHDA (NSW) for their generous support. I am hoping to submit the Ph.D. thesis by the end of the year.
Acknowledgement: "Gateway" January/February 2002, AHDA (NSW).
Source: Huntington's Disease Society of America - [email protected]
New York, NY March 19, 2002 - In a study published in the March 14th issue of the scientific journal, Neuron, HDSA grant recipient Lynn Raymond, Ph.D., in collaboration with HDSA Coalition for the Cure investigator Michael Hayden, M.D., Ph.D. and others at the University of British Columbia in Vancouver, found that selective neurodegeneration in HD may be due in part to the role specific molecules called NMDA receptors play in cell death.
Using HD mouse models developed by Dr. Hayden, that express full-length mutant huntingtin, researchers found that the medium spiny neurons in the mice expressing mutant huntingtin were more vulnerable to the NMDA receptor agonist, quinolinic acid, than neurons in mice expressing normal huntingtin. By contrast, there was no difference in vulnerability to non-NMDA glutamate receptors in mice expressing wild-type (normal) huntingtin and those expressing huntingtin with an expanded polyglutamine (72 glutamines).
Different forms of NMDA receptors are present on most neurons and are some of the molecules that enable neurons to respond to the most common excitatory neurotransmitter in the brain - glutamate. However too much glutamate, or abnormal responses to glutamate, can cause a form of cell death "excitotoxicity".
The results of Lynn Raymond and Michael Hayden's collaboration are significant in that they provide evidence that excitotoxicity may be relevant to HD. Excitotoxicity has previously been proposed as a model for cell death in HD, because even in normal mice or rats, excitotoxins such as quinolinic acid (which are agonists or activators of NMDA receptors) produce a pattern of cell death similar to that seen in HD. However, the CARE-HD study tested an NMDA receptor blocker called remacemide, and found it had no beneficial effects on the progression of HD. The Raymond/Hayden study suggests that blocking certain subsets of NMDA receptors may prove more effective, since a specific subset of NMDA receptors appear to be partly responsible for selective vulnerability in medium spiny neurons, leading to degeneration in the HD mouse model.
Huntington's Disease (HD) is a hereditary degenerative brain disorder that is characterized by involuntary movements, personality changes, dementia and early death. There is currently no effective treatment or cure. But there is hope. In 1993, scientists located the gene that causes HD on the short arm of chromosome 4. HD has now become one of the most widely studied of the polyglutamine repeat diseases and is considered a "model" for other neurodegenerative disorders since cell death has been found in at least nine distinct neurodegenerative diseases that are hallmarked by an expanded CAG repeat.
The Huntington's Disease Society of America funds both basic and clinical HD research through an aggressive program that includes the HDSA Coalition for the Cure, a uniquely collaborative effort of scientists worldwide, a growing Grant and Fellowship program and most recently the introduction of Therapeutics Initiative that will move research from the lab to clinical trials more quickly. Since 1997, HDSA's commitment to research has grown from $183,000 to more that $4 million in the coming year. The answers are out there and researchers like Dr. Raymond and Dr Hayden are just steps away from solving the HD puzzle.
Now more than ever, we need your help to continue to fund promising research like that published in Neuron. Please call the HDSA national office at 800-345-HDSA to find out how you can help to make this the last generation with HD.
For more information about Huntington's Disease Society of America call (800) 345-HDSA or visit our web site at www.hdsa.org.
Stanford University Medical Center researchers have discovered what they believe may be a potential TREATMENT FOR Huntington disease. By enhancing the brain's natural protective response to the disease, researchers were able to alleviate the uncontrollable tremors and prolong the lives of mice that were artificially carrying the gene that causes HD. Their finding suggests that a similar treatment strategy may be effective in humans.
"This is exciting because it has implications for therapy," said Lawrence Steinman, MD, professor of neruological sciences and pediatrics, and senior author of the study published in the February 2002 issue of Nature Medicine.
In their research, investigators injected the compound "cystamine" into HD mice. They were expecting to see the compound have a direct effect on the process of the development of toxic protein aggregates in the brain. These aggregates are known to speed up brain cell death, and play a critical role in the progression of the disease. However, while they were expecting one result, they actually got a different, unexpected reaction.
Cystamine had no impact on the process of protein aggregation. Instead, the researchers found that mice treated with cystamine had higher levels of three particularly interesting genes, all of which are known to produce proteins that play a protective role in the brain. These same proteins - known as "neuroprotective proteins" - were also found at increased levels in the brain of human Huntington's patients. This finding suggested that the brain makes an unsuccessful attempt to protect itself against Huntington disease. "It seems the brain under attack has a number of defense mechanisms turned on to sop up toxic brain proteins, lead them away to digestive compartments, and out of the neuron," Steinman said. "This allows the neuron to survive, which is important since mammalian brains are bad at regenerating neurons."
Can you translate that for me?
Based on this study, researchers believe that Huntington disease causes certain proteins to be produced in affected brain cells to try and protect them against the effects of HD. These proteins, known as "neuroprotective proteins" act like bouncers at a bar. First, they attach themselves to the toxic protein huntingtin. Then they drag the toxic huntingtin out of the nucleus of the cell (the brain cell's control centre), and take it into the body of the cell. From there they drag the huntingtin to a place in the cell where enzymes "eat" the toxic huntingtin, and destroy it. However, enough huntingtin builds up that even the neuroprotective proteins can't completely stop, only slow down, the process leading to the death of the brain cells.
By using cystamine, Dr. Steinman and his team "boosted" the brain's natural defences, and this is what caused the positive effect in the mice.
Though these findings suggest that cystamine could someday offer hope to patients with Huntington disease, the quest for other, potentially better compounds, will continue. "In recent years, other compounds have also been reported to extend the lives of mice suffering from Huntington's, Steinman said. "Perhaps multiple treatment in combination would have even greater benefits."
Marcela Karpuj, primary author of the study, is optimistic about the results. "I think this is very exciting," she said. "In the future, treatments to raise the levels of neuroprotective proteins could be given to humans and could be therapeutic for other neurodegenerative diseases as well."
Acknowledgement: SM/Office of News and Public Affairs, Stanford University, California.
The Huntington Society of Canada's NAVIGATOR Coalition steering committee is pleased to announce that Dr. Ray Truant of McMaster University in Hamilton, Ontario has been awarded a NAVIGATOR Coalition Grant for his research, entitled Analysis of the huntingtin Nuclear Export Signal.
Dr. Truant's laboratory specializes in studying how proteins are regulated in human cells, specifically, how and why proteins are allowed to go in or out of the nucleus of a cell. The grant will go towards Dr. Truant's work in understanding how and why the toxic protein huntingtin (created by the mutant gene that causes Huntington disease) enters the nucleus of brain cells, and to find out what effect, if any, preventing huntingtin from entering the nucleus of a brain cell has on the process of cell death in Huntington disease.
This study will be conducted "in culture", meaning at the cellular level only. This is a way for researchers to quickly and precisely figure out if what they observe "in culture" is important enough for further study in mice, as well as to determine the best way to proceed with the design of drugs. For example, if excluding huntingtin from entering the nucleus of a cell has the ability to extend the life of a cell exposed to huntingtin "in culture", then it could be later tried in HD mouse models. If this approach proves successful in the mouse model, there is potential for the development of a therapeutic approach in humans.
Dr. Truant will be able to actually see how huntingtin moves into the nucleus of a living brain cell by using a very sophisticated microscope, built in part by the Huntington Society's NAVIGATOR Coalition grant. This microscope, one of a kind in Canada, will allow researchers to actually watch different proteins, including the toxic huntingtin, moving and working in brain cells. This work will literally give Dr. Truant a new window into understanding why brain cells die in Huntington disease, and how this cell death can be prevented from happening.
The researchers who evaluated Dr. Truant's grant proposal on behalf of the Society were extremely impressed with the proposed study, and excited about the potential for the results of the study as it relates to Huntington's research, as well as its potential to be applied to other, related neurodegenerative disorders. - SM
Can you translate that for me?
Every cell in the human body - including brain cells - is made up of a number of different parts. The part of the cell that controls everything that goes on in the cell is called the nucleus.
In Huntington disease, the gene that causes the disease produces a toxin protein called huntingtin. This protein is produced in brain cells in key parts of the brain - the parts that control movement, emotion, and cognitive ability - and is normally essential for healthy brain cells. However, if huntingtin becomes altered or mutated, like in someone with Huntington disease, the protein becomes toxic.
Once the toxic protein is produced in the cell it does a couple of things: it bunches up and creates little clumps in the cell, called protein aggregates; and it also tries to get into the cell's control centre, the nucleus. Once inside the nucleus, it bunches up and creates protein aggregates there as well.
Researchers know that these protein aggregates speed up the death of brain cells. What they don't know for sure is whether it's the aggregates in the brain cell, or the aggregates in the nucleus of the brain cell, or both, that cause cell death. But since the nucleus is the most important part of the cell, it makes the most sense to start there first.
The nucleus doesn't let just anything in. It manages everything that happens in the cell, and it can call on different things in the nucleus and in the cell to help it control everything that goes on. The nucleus is like the coach of a hockey team, putting certain players on the ice at key points in the game, and keeping others on the bench.
The Huntington Society of Canada's NAVIGATOR Coalition research programme is supported by the following funds:
Acknowledgement: "Horizon" No. 104, Spring 2002, Huntington Society of Canada.
By Adam McLean, Counselling Co-ordinator, Carers NSW
Caring and Guilt
One of the most common emotions that carers express when speaking of their caring situation is guilt. What is it about this word that has so much meaning for carers and is so often talked about. If you have to think about what the word guilt means to you, how would you describe it? It's a tough one and even reading the word can evoke a strong reaction within.
For some carers the word guilt is difficult to describe or speak about as they believe they are being disloyal or don't have the right to express this feeling. Guilt can be healthy in that it can be a barometer to gauge the feeling we have when we do something that we know is unfair or wrong. Even just thinking about doing or not doing something can cause a feeling of guilt to arise. Healthy guilt keeps us from doing something that can be inconsiderate or unreasonable and is controlled by our conscience. Unhealthy guilt is when we expect perfection in everything we do, or we want to accomplish the impossible, or feel responsible for others, or when we don't live up to our own expectations or rules that we have mapped out for ourselves. We can set ourselves up to expect too much, not only from ourselves, but also from others.
Some of the factors that can influence our reaction to guilt are based on values that are passed on, such as beliefs, morals, rules, religion, social and cultural traditions, and so on. Often it is good to review your values occasionally to see if they are still valid. Guilt can come attached with many emotions such as resentment, responsibility, abuse, depression and anger.
The next time you are feeling guilty, why not take some time out and explore what is happening to you and the reasons for your guilt. Here are some things you might want to consider:
By reviewing one or some of these questions you are checking the validity and explanation of your behaviour that has contributed to your feeling of guilt.
Another aspect in dealing with guilt is recognising the language that is used. For example the use of the word 'should' in this statement, "I should have done better&", doesn't offer a choice - it is a self-criticism. By replacing 'should' with 'could', you offer yourself a choice: "I could have done better&". Other words to recognise are 'must', and 'ought'. Try replacing them with 'might' or 'could'. Using these words gives you an alternative. Sounds easy, although it can be difficult in reality - but have a go.
Often carers speak of a feeling that guilt is being imposed onto them by the person they care for. This is often seen as the person getting his or her own way, or being manipulative. This can happen for many reasons. It can be used to hide the unhappiness, sadness, hurt, pain, frustration or anger of the person being cared for. More often they will place the focus of these feelings onto others as a way of avoiding their own feelings. This form of behaviour can often leave you, the carer, feeling guilty.
When you do feel guilty or have negative feelings, here are some simple ways of looking after you:
With guilt - is it healthy guilt or unhealthy guilt? You will know.
There is no way of preventing the feeling of guilt or the myriad of negative feelings from arising. But talking things through can help. The Carer Resource Centre staff are here to talk things through with you when you may feel the need to off-load. Our After Hours Carers Line is also available to you seven days a week, especially over the festive season, when many services close. You can talk to someone who understands on 1800 242 636.
Acknowledgement: Carers News NSW December 2001.
Karen Keast - Dietitian NSW HD Outreach
10 STEPS TO GOOD NUTRITION
WHAT ARE THEY?
WHY SHOULD I USE THEM?
WHEN COULD I USE THEM?
SUGGESTED SUPPLEMENTS FOR YOUR USE
Compiled by the Dietitians Association of Australia NSW Gerontology Interest Group.
Acknowledgements to : Dietitians Association of Australia NSW Gerontology Special Interest Group
(Further ideas for Meeting the Nutritional Needs of People with HD in next Newsletter.)
Future Fundraising Activities -
Aladdin's Bazaar - 26th May at Pulse, Griffith Road, Eastern Heights, Ipswich. Please refer back to your February Newsletter for further details. Funds have been received from John Nugent, O.A.M., Mayor of Ipswich, Cr. Paul Pisasale, Cr. David Morrison, Cr. Heather Morrow, Cr. Andrew Antoniolli and Cr. Denise Hanly all of Ipswich City Council. We sincerely thank the above sponsors for supporting the Aladdin's Bazaar. The Mayor and Councillors of Ipswich City Council also extended their congratulations to Hedy and Patrick for their fundraising efforts and continued support of the Association.
We are looking for volunteers to assist with selling tickets at the Caravan Show - if you can help please ring Barbara at the office.
Community Assistance - Recently we have received, and gratefully acknowledge here, major financial assistance from the following donors:
JW Bell & Associates
Our sincere thanks to the runners for their generosity.
May 21 Management Committee Meeting - 6.00 pm at HD Centre, Annerley
June 6 Townsville Family Support Meeting - 7.00 pm at 59 Cambridge St., Vincent
July 4 AGM Townsville Family Support Group - 7.00 pm at 59 Cambridge Street, Vincent