April 2001 - Newsletter
In this issue:
It seems that the year has only just got under way and here we are producing the second Newsletter for 2001, time really does fly.
This year in September the Australian Huntington's Disease Association - Queensland will be holding a symposium and dinner to celebrate the 25th Anniversary of the Huntington's Disease support group in this State. The Association has come a long way in twenty-five years. From a small group of volunteers distributing a newsletter, we have grown to a well established professional centre with employees and volunteers providing welfare services and various respite activities, plus ongoing education programs and information distribution for families and professionals alike. Formal recognition of the major contributors will be made at the Anniversary Dinner. We have a lot to celebrate!
A number of excellent speakers have been invited for the symposium including keynote speaker Dr. Marcy MacDonald Ph.D. whose Molecular Neurogenetics laboratory played a leading role in the cloning of the Huntington's Disease gene. Dr. MacDonald will be leading informative discussion of the most recent treatment, research and understanding of Huntington's Disease. I trust that as many of you as possible will attend the symposium and dinner.
The Federal Government has recently released the terms of reference for an inquiry into the protection of human genetic information in Australia (reprinted in this Newsletter), a discussion paper is expected to be circulated in late 2001 and the final report is to be completed by July 2002.
Our Association is considering making a submission to this inquiry, so I would welcome contributions from anyone who is aware of the existence of discrimination in relation to genetics/HD on insurance, employment or other issues. Please contact the Association if you feel such a submission is warranted - we would appreciate your comments.
As you read on you will find more reports on some of the latest research findings. Major advances have been made in identifying the finer details of the causes of HD and identifying a potential treatment or cure for the disease. While an actual treatment may still be some time away, I am sure that you will all share our excitement when reading the latest articles.
Gerry Doyle, President
One quarter of the year gone and there appears to be no slowing down, we are as busy as ever. The Association's cars have been on the road constantly and Gwen has been in and out of airports travelling to Mackay, in February and Far North Queensland during March and early April. Since our last Newsletter I have been to Bundaberg and the Wide Bay Region in March, Toowoomba for one day and several trips to the Gold Coast.
In the next couple of months we are hoping to include regional visits to the Gold and Sunshine Coast and hinterlands, Toowoomba and the Central Highlands, and perhaps further west and north depending on demand. If you would like to meet with us while we are in your area please contact the office, as we would love to call on all of the families and professionals known to us in these regions.
In addition a number of clients will be attending the popular respite holiday at the Gold Coast during the first week in May. While the office staff and volunteers will be getting busy with the planning and preparations for the 25th Anniversary celebrations. As always we will be providing support to families and professionals and we are always happy to hear from you if we can assist with issues or just lend an ear!
The new look Annerley Day Respite Service is now in its third month and proving to be very successful. The Day Respite Program has been operating on Tuesdays only with approximately 15 clients attending and 2 Day Respite facilitators coordinating the program. The group appears to be having a great time with a wide variety of constructive and entertaining activities being offered. The Association's staff and committee members extend their sincere thanks to the Day Respite staff and volunteers for their contributions in adapting to the new program and making it such a success. Many thanks also to our clients whose patience and faith has enabled us to make these change. Gwen and I have been scheming up some ideas about how we can continue to maintain increased support for those persons who have recently left the day respite program due to this year's changes. We will keep you posted.
On February 14th the annual meeting of our Professional Committee was held at the HD Centre at Annerley. Fifteen professionals met to discuss agenda items including: accommodation for persons with HD, the 25th Anniversary dinner and conference, Presymptomatic Testing, International Research Updates, Symptomatic and Asymptomatic Research Projects, and Insurance Issues.
We are pleased to report that a final draft of the proposal for an Acute Care HD Accommodation Unit has been signed off at district level. The next step will require application and lobbying of the relevant government departments to raise the necessary funds for development of such a unit. Keep your fingers crossed!
Enthusiastic discussion of current research projects and several overseas findings demonstrated a particular interest in treatments to alleviate HD symptoms and the role of the mouse model in furthering our understanding of HD. Hence our invitation to Dr Marcy MacDonald who has played a major role in the development of the mouse model.
Members of the Professional Committee were also particularly interested in the issues of insurance. I have since attended two very interesting forums about genetics. Dr. Tom Shakespear from the Policy, Ethics and Life Sciences Research Institute, Newcastle, England presented a lecture: "A spiralling problem? Disability and the new genetics" at the University of Queensland. The second event was a debate on "The Human Genome Project: addressing the public health issues", five representatives from a range of professions associated with genetic information presented a variety of thought provoking views on the social and medical implications of genetic information. I expect we will be hearing much more about insurance in relation to all genetic conditions over the next few months.
Bundaberg Support Group
The Bundaberg Support Group has been extremely busy over the last few months and their hard work has certainly been paying off.
Earlier this year Nancy Swanson accepted a cheque for $3,000.00 from the Sunshine Rotary Group, after many hours of selling raffle tickets for a Car Trailer and Christmas Hamper during the lead up to Christmas. Many thanks to the Rotarians for the support that they have shown our group and Nancy for her tireless efforts in 'sales' and welfare support. The Bundaberg Support Group now has the enviable task of deciding how to spend the money!
Recently the Guardian newspaper dedicated a full page of the mid-week paper to focus on the Huntington's Disease Support Group. We were pleased with the content of the article and a number of local family members were featured in some great photos of the group's activities. The article certainly reinforced the determination of families and volunteers in their mission to raise awareness of HD and improve the quality of lives for anyone affected by the disease.
One of their latest initiatives has been the development of a swimming group. Carinbundy Hostel has kindly made their heated pool available and Nancy has been busy organising transport and volunteers to support a number of people in the pool.
We are always thankful to the Gracie Dixon Respite Centre for their ongoing support. Each Friday some of our clients are invited to participate in an outing with other members of the Respite Centre and we are very grateful to the staff and volunteers of Gracie Dixon for providing this service.
If any of our readers, or friends and family, would like to become involved as a volunteer support person, please contact your local support group or the Brisbane office, we always welcome whatever assistance is offered.
The following media release dated 19 March, 2001, from the Web site of Johns Hopkins Medical Institutions, Office of Communications and Public Affairs, is reprinted for the information of readers.
Hopkins Scientists Discover How Huntington's Kills Cells: Block Death in Cultures
Scientists discovered the gene for Huntington's Disease in 1993, but in all that time, they couldn't explain how the gene leads to the death of a small patch of nerve cells in a key part of the brain.
Now studies from two laboratories at Johns Hopkins suggest precisely what goes awry in the brain cells marked for destruction; a mutant protein "hijacks" a key molecule in a cell's survival system. Using what they've learned, the researchers have also been able to fully reverse impending cell death in laboratory cultures of human cells containing the mutant HD gene.
An account of the study appears this week in the journal Science.
"Obviously, our goal has been to understand HD's mechanism so we can interfere with it early on with drugs," says lead researcher Christopher A. Ross, M.D., Ph.D. "But this is also a broader advance," says neuroscientist Ted M. Dawson, M.D., Ph.D. "It shows us a new way in which genetic errors could cause disease."
Huntington's Disease is a fatal hereditary disorder, marked by death of nerve cells chiefly in the Corpus Striatum, a part of the brain that helps control movements and thought. Patients need inherit only a single mutant gene to get HD. Symptoms typically begin in middle age, usually as uncontrollable movement followed by progressive dementia and death.
But the clumped molecule itself apparently isn't harmful. "The real problem is that the abnormally shaped protein attracts and becomes entangled with a smaller, critical protein in the cell nucleus," says doctoral student Frederick C. Nucifora, Jr. The smaller protein - a regulatory molecule called CBP - gets "pulled away" from its place of action alongside DNA and then becomes entangled and useless, says Ross.
"Without CBP," he continues, "a pathway crucial for cell survival never gets turned on."
To prove CPB gets hijacked, the researchers attached different colored fluorescent markers to DNA, huntingtin and CBP and watched what happened inside cells to which they'd added mutant HD genes. They could see the CBP get sequestered out of the nucleus. They also showed this "hijacking" in live mice carrying the human HD gene and in postmortem brains from human HD patients.
Assays of gene activity in the nerve cells showed that, under these conditions, CBP's normal gene-regulating activity - turning on genes for survival pathways - wasn't happening.
In earlier studies, when researchers in Ross's lab inserted mutant HD genes into nerve cells in culture, the cells died in a way identical to brain cells of HD patients. But this time, when the scientists introduced mutant HD genes into cultured cells, they also added a bogus version of CBP with the molecular areas normally attracted to mutant huntingtin snipped out.
Now, unable to be hijacked, the engineered CBP could perform its survival task. "Instead of degenerating," Ross says, "cells in these cultures remained healthy. We were able to rescue them completely."
"We haven't yet demonstrated the turnaround in a live mouse model," says Ross. That's a critical step, both in proving the principle and taking a future road to human therapy. The researchers anticipate technical details will complicate this work. "Our research so far, however, offers a needed target for developing and testing new drugs."
The results of the study also apply to a growing family of neurological genetic diseases which, the researchers say, operate on a similar principle. They include the spinocerebellar ataxias, a set of rare but debilitating diseases of movement and gait.
The research was funded by grants from the Huntington's Disease Society of America, the Hereditary Disease Foundation and the National Institute of Neurological Disorders and Stroke.
Other researchers on the team are: Masayuki Sasaki, Ph.D., Mathew F. Peters, Ph.D., Hui Huang, Jillian K. Cooper, Ph.D., Juan Troncoso, M.D., and Valina Dawson, Ph.D., from Johns Hopkins. Hitoshi Takahashi, Mitsunori Yamada and Shoji Tsuji from Niigata University in Japan also participated.
Check this Web site to see photographs from the study:
For the past six years Laxdale, a research company based in Stirling in Scotland, has been developing a new approach to the management of nervous system diseases including Huntington's Disease in
collaboration with Professor Krishna Vaddadi of Monash University in Melbourne, Australia. Dr Marina Lynch of Trinity College, Dublin has also been involved in some of the basic scientific studies. LAX-101 is the product of this research programme.
To date three main studies specifically on Huntington's Disease have been carried out. Professor Vaddadi has carried out an animal study on mice carrying the human Huntington's Disease gene and also a human placebo-controlled trial in seventeen patients who were in the mid-stage of the illness. Dr. Basant Puri, of the Hammersmith Hospital in London, has carried out a placebo-controlled trial in seven patients who were hospitalised and requiring 24 hour care.
Professor Vaddadi, working with John Drago, Jerry Clifford and John Waddington, found that when a formulation containing LAX-101 was given to the mice from birth it prevented the development of the movement disorders which in these animals usually appear at 30-40 weeks of age. Both of the clinical studies in Australia and in London showed that in the placebo (dummy treatment) groups a majority of patients deteriorated during the course of the study whereas in the actively treated groups a majority of patients showed improvement. Success was by no means certain since a few patients in the placebo groups stayed unchanged or improved while a few patients in the LAX-101 group deteriorated.
However, these results are encouraging and as a result Laxdale is setting up a major placebo-controlled trial in over 120 patients which should provide a definitive answer as to whether LAX-101 is or is not helpful in Huntington's Disease. Many people are concerned about the ethical issues involved in placebo-controlled trials. However such trials are absolutely required by the European Medicines Evaluation Agency (EMEA) and by the Food and Drug Administration (FDA) in the USA. Without placebo-controlled trials these agencies will simply not allow any medicine to be made available to patients in either Europe or the USA. In order to ensure that a treatment which is effective is made available on the NHS, such trials are therefore an absolute necessity. Laxdale very much understands the concerns of the Huntington's Disease community and is therefore trying to complete the studies as quickly as possible. If the trials are successful then Laxdale will immediately apply to the EMEA and to the FDA for permission to make available LAX-101 to patients.
Laxdale understands the problems and frustrations involved in waiting for an outcome but we will do everything that is humanly possible to get the results quickly. We expect that the last patients will be recruited by mid-2001 and therefore will complete the 12 months by mid-2002. We expect to have the results by the autumn of 2002. If LAX-101 works it should be generally available after approval by the EMEA and FDA some time in the first half of 2003.
Acknowledgement: Reprinted from the Newsletter
The following letter (dated 22 February, 2001) and terms of reference were received from the Australian Law Reform Commission, and are reprinted here for the information of our readers.
The federal Attorney-General and the Minister for Health and Aged Care have asked the Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee (AHEC) to undertake a joint inquiry into the protection of human genetic information. The terms of reference for the inquiry are attached.
The ALRC and AHEC have been given an important task to look into issues that have arisen due to advances in genetic science. The terms of reference set out a number of factors that the ALRC and AHEC will be taking into consideration throughout the inquiry, with a focus on the ethical implications of the collection and uses of human genetic samples and information in Australia. There is a need to consider developments in other countries, to analyse the Australian situation, and to suggest the best regulatory framework for Australia - one which balances ethical considerations with an acknowledgement of the possible benefits that can be gained from the rapid advances in genetic technology.
There is a need to consider the extent to which privacy of genetic information should be protected, and the circumstances in which discrimination on the basis of genetic information may be inappropriate. While the use of genetic information in the areas of employment, insurance and law enforcement has been highlighted in the past, the ALRC and AHEC will be considering all fields where genetic information may be used now and into the future.
The ALRC and AHED have been asked to make their report to the Attorney-General and Minister for Health and Aged Care by 30 June 2002. In the next 18 months there is a need to consult with all of those with an interest in the inquiry. The inquiry welcomes submissions from organisations and from individuals discussing issues arising from the inquiry. Submissions in response to a discussion paper, which is expected to be released to the public in late 2001, will be particularly welcomed.
An email/fax alert service will also operate for this inquiry to keep interested persons aware of significant developments over the next 18 months. If you would like to be a part of this service, and have not already provided an email contact address or fax number to the ALRC, please contact us to register. Updated information will also be available from the ALRC website at www.alrc.gov.au
Wide-scale consultation will be a major feature of this inquiry. The ALRC and AHEC will hold numerous meetings over the next 18 months to discuss relevant issues with those with a particular interest in the inquiry. Further details regarding meetings will be made available at a later date.
COMMONWEALTH OF AUSTRALIA
refer to the Australian Law Reform Commission and the Australian Health Ethics Committee of the National and Medical Research Council for inquiry and report pursuant to subsection 20 (1) of the Australian Law Reform Commission Act 1996 and paragraph 35 (3) © of the National Health and Medical Research Act 1992 respectively, matters relating to -
(a) whether, and to what extent, a regulatory framework is required
(b) any related matter.
2. In performing their functions in relation to this reference, the Commission and the Australian Health Ethics Committee shall -
(a) conduct this inquiry jointly; and
3. The Commission and the Australian Health Ethics Committee are to report to the Attorney-General and the Minister for Health and Aged Care by 30 June 2002.
Dated 5 February 2001.
Do you ever find yourself getting stressed over challenges that come your way? Do you find yourself depressing over your problems? So often, we act as if our life should always be smooth and problem-free. However the reality is very different. The world is not as easy and fair as we would like it to be. All of us face unwanted difficulties, problems or crises at different times. They may be problems at work, our relationships, concerns about the children, accidents, illness - the list could be endless.
Often, we respond as if these problems are really awful and are the "end of the world". It can help us to cope with such problems by realising that although they may be unwanted, dealing with problems is very much a part of living. We are better to have the response of "here comes another one" when faced with a new problem. We also need to keep some perspective - our life is much bigger than just the problem we are stressing about.
Our stress will be reduced if we not only practise accepting our situation but also accept what is out of our control - the past and other people's behaviour. We do not have to like the situation, but we can accept we are dealing with it for now, and accept parts over which we have no control. There are often other things we can do or think that will help us with our concern, but we need to appreciate the difference between that which is in our control and that which is not. For example, we can influence others by giving them information about what we are wanting in a non-critical way, but we have no control over how they respond.
Sometimes, good can come from the problems we experience. American Psychiatrist, M. Scott Peck said, "It is in the whole process of meeting and solving problems that life has meaning. Problems aren't the cutting edge that distinguishes between success and failure. Problems call forth our courage and our wisdom. Indeed, they create our courage and wisdom. It is only because of problems that we grow mentally and spiritually. It is through the pain and confronting and resolving problems that we learn".
People often ask me does my job ever make me depressed due to all the suffering I see. Although I do see people's pain, I also see people growing and overcoming. This is what makes my job rewarding.
About the Author - Ken Warren (BA, M Soc Sc, CPC, AAMFC QCA) is a Certified Professional Counsellor in private practice on the Sunshine Coast (Qld). He can be contacted on (07) 5443 7626 or through his email address [email protected]
you alter the difficulties,
We've talked about some of the situations and feelings young people in families with HD have to cope with. Now we talk about some ways to take care of yourself, to help you cope with your own feelings, with your parents or other people in your family who have HD, with your friends and the rest of the outside world.
Learning to cope is a bit like being a fish swimming up a river full of rapids and boulders, floating logs and other obstacles. To get to a calm place takes strength, determination, courage, hope and optimism. And a fair bit of skill. You need to be able to recognise the obstacles and find a way through them, round them or over them. If you're going to make it, you'll have to be fit, so the first person to look after is yourself.
Looking after yourself
Here's an ABC of how to look after yourself. If you think about it, you'll notice that some of the suggestions are about looking after your body, some are to feed your mind and some are to nurture your spirit. You need to look after all three parts of you. Keeping fit and being physically active will help your mind and spirit as well as your body. It's a good idea to look after them directly if you can. Add your own strategies to the list - the more strategies you have the better.
Affirm yourself - It doesn't matter whether you're in a mess sometimes, or feel angry, quarrelsome, unhappy and confused, you're still you, the same lovable person you've always been.
Question - Continue to be curious. The questions you want to ask about HD will change over time as you grow older and move into different stages of your life. You'll need new or different information to help you plan your future and cope with changing circumstances. Keep asking.
Acknowledgement - Article reprinted with permission from Huntington's Disease Association (Wellington) Inc. from "Huntington's and Me - A Guide for Young People" by Alison Gray. This book is available at a cost of NZ$12.00 (including GST) plus package and postage and can be ordered from:
Aladdin's Bazaar - Sunday 8th April - Hedy and Patrick Keogh once again worked tirelessly to stage the Aladdin's Bazaar which was held in conjunction with the Ipswich Festival. Approximately $1,000.00 was raised for the Association. We extend our sincere appreciation to all those who were involved in providing a great day of entertainment, however we would particularly like to thank Hedy and Patrick for their enthusiasm and commitment, and the Bellevue Restaurant in Limestone Street, Ipswich for providing the venue.
The Sherwood Forest Runners recently donated $450.00 to the Association to be used to purchase a Pressure Relieving Mattress Overlay. This Mattress Overlay will be loaned to a HD patient through the Association's Equipment Lending Scheme.
Money allocated by the group, was raised through donations made by the runners. We extend our sincere appreciation to the runners for their generosity.
Future Fundraising Activities -
Many people collect corks on behalf of the Association, however the bulk of the corks come from Sheila and Norm of Brisbane Bottle Exchange. We extend our sincere thanks to them for their efforts and appreciate their friendliness and cooperation in our dealings with them.
Eunice and Mary are our volunteer "cork sorters". Is it their cheery disposition, or is it the fumes? Much fun and laughter is heard throughout the office as they wade their way through bags and bags of corks.
If you are interested in assisting with this fundraising activity, and live in the south-east corner, please contact the HD Office so that we can arrange pick-up of the corks.
June 7 Townsville Family Support Meeting - 7.30 pm at 59 Cambridge St., Vincent