Newsletter February 2002
In This Issue
Welcome to the first edition of our newsletter for 2002. I trust you all had an enjoyable Christmas and wish you all the best for the New Year.
The first Professionals Meeting for 2002 was scheduled for the 23rd of February with a total of ten interested professionals attending. Hot items for the agenda included Residential Accommodation for persons with HD; Research; the HD Clinic and HD Study Group. I am sure we will be hearing more on each of these topics during the year.
Gerry Doyle, President
Hello and best wishes for the new year to you all, I hope that Christmas was a happy and restful time and 2002 is shaping up to be a promising and fruitful year for everyone. Already it is February and we are fully into the swing of 'Association Business' with the calendar filling up for the early part of the year at least.
First up regional trips! Gwen has planned a trip to Bundaberg during the first week of February. I am planning a trip to the Toowoomba - South Burnett region mid February, then I will be working in the regions north of Brisbane including Hervey Bay, Maryborough and the North Coast mid March and up to Townsville sometime in April. Unfortunately we do not have definite dates confirmed as yet but I will be letting families know, ASAP. Both Gwen and I will be contacting as many families and professionals in these areas as possible, however if you would particularly like to catch up with us please do not hesitate to contact the office.
We are also looking forward to conducting a number of family support group meetings - particularly in regional areas where this forum has proven to be extremely successful. If any family members would like to see the development of a group in their area please do not hesitate to contact us.
Back in Brisbane the Day Respite Program is again up and running with approximately 20 clients attending on a regular basis. Last year's introduction of two co-facilitators to conduct the program has proven to be extremely successful. Both Kaye Evans and Jasmine Wilson have been highly motivated and dedicated facilitators providing a very innovative and interesting range of activities for our clients to enjoy.
Unfortunately Jasmine is leaving us this year to pursue further studies in social work and we wish her the best but will miss her greatly! Fortunately for us, Diane Murtha has put her hand up for a change of role after providing fabulous meals and support to the Day Centre facilitators for quite a few years now. We are thrilled to offer her the position of co-facilitator with Kaye Evans, we are sure they will make a great team! Welcome Diane and Best of Luck! There will be some strategic changes to the catering side of things, but do not worry there will be FOOD&
Another welcome addition to the Association's staff will be the introduction of a third welfare worker. We shall be seeking to employ a part-time worker based in Brisbane to assist with providing support to the local families and professionals. We envisage that the successful employment of this additional worker would allow Gwen and myself to spend more time in regional areas.
Barbara Gray has been particularly busy over the Christmas season this year updating our data files and clarifying the distribution of families throughout Queensland. We now have a much clearer view of the areas requiring an increase in the number of visits and support offered by the Association's welfare service. We are looking forward to improving the service we offer to all members.
Until next time, take care
Cathy Dart, Welfare Officer
There are many issues that young people have to confront when they are sharing a home with or maintaining a relationship with a parent who is affected by HD.
There are many background issues that may influence these relationships. I have chosen to speak about Communication in the Later Stages. This is one area most of us feel we could work on to improve our relationships with persons with HD. In particular, with a better understanding of communication, children may find it easier to BE WITH their parent who has HD.
I often hear questions such as "What can I do with Mum when I visit?" or "What could I do to help anyway?"&. Sadly, 99.9% of the time I know that Mum or Dad is very keen to maintain a good relationship with their child and the efforts of the two are causing frustration for both and only successful to certain degrees.
At the IHA 2001 meeting in Denmark I met Jim Pollard, MA - a behaviour analyst from Boston, USA who has had a long association with the care of persons with HD, and is author and editor of 'A Caregiver's Handbook for Advanced-Stage HD'. At the IHA meeting Jim presented on the topic of 'Communication' and during his discussion of the affects of HD on communication he highlighted the contrasting issues of 'impulsiveness' and 'delay'. Jim posed the question "&how do we learn to Hurry Up (impulsiveness) and Wait (delay)?" I believe this statement perfectly illustrates the primary difficulties we all experience at times when communicating with persons with HD.
So Why is Communication so Difficult?
(1) The Huntington's Disguise - There are physical reasons including the effects of dystonia that may cause misleading facial expressions, body language, voice regulation and mobilisation.
(2) The Delay or 'Huntington's Delay' - The gradual lengthening of response time. Persons with middle or late stage HD may take a minute or longer to respond to an everyday request i.e. "coffee or tea?" It is very important to remember that:
(3) Living in the next 10 minutes - Although many persons with HD demonstrate fabulous long term memory many persons in the later stages of the disease also appear to become focused on immediate gratification 'the next 10 minutes only'. The person with HD may become extremely focused on the current activity i.e. TV watching, or extremely focused on a planned activity i.e. an outing on the weekend. Providing an effective distraction can be very difficult. Often this behaviour is misinterpreted as self centred or disinterest in others.
So What Can WE Do?
(1) ROUTINE - Daily, weekly, monthly etc. A predictable routine helps the person with HD stay involved, sometimes they will find their own routines. But a good routine is not RIGID. These concepts are supported by mainstream research that demonstrates that people do better in organised homes.
(3) SEQUENCE QUESTIONS - Consider your approach to questions. The essay question versus the multiple choice question versus the yes/no question. Repeat and Expand the questions, it is called cognitive enhancement AND it helps you to stay involved!
(4) GUIDED IMAGERY AND READING - Maximise visual and sensory stimulation that will assist the person with HD to orient and comprehend the situation. For example: hold up the tea and coffee jars when you want to ask which one you should make!
Using all or a combination of these strategies can be extremely useful in maintaining a positive relationship with a person who has HD. A great deal can be achieved with a little planning and preparation for each interaction.
Acknowledgement: Presentation by Cathy Dart at the 25th Anniversary Seminar held on the 29th September, 2001.
What is remacemide, and why was it tested?
What is co-enzyme Q10, and why was it tested?
Who was tested as part of the study?
How was the study done?
· 25% received remacemide;
Each participant was monitored over the 30-month study period using standardized functional, neurological, and neuropsychological tests. A smaller number of participants also underwent brain scans (using an MRI). Study investigators, using all of these testing techniques, were looking to find some kind of impact on each participant's Total Functional Capacity (TFC). The TFC is a standardized scale used to express the effect of HD on an individual as a number or grade. A person rated at 13 is said to be normal. A person rated at 0, or the low end of the scale, would be someone who is severely disabled.
At the beginning of the trial, the average TFC rating for the 347 study participants was approximately 10. Ultimately, the purpose of CARE-HD was to discover whether a person taking remacemide, CoQ10, or a combination of the two would experience a slower decline on the TFC scale compared to someone who was not taking any medication (the placebo).
In short, remacemide was shown to have no benefit for persons in the early stages of Huntington's Disease.
Remacemide is an investigational drug that is not approved by the Food and Drug Administration. Because the CARE-HD study did not demonstrate that remacemide was of benefit to persons in the early stages of Huntington's Disease, the drug is no longer available for individuals with HD.
More specifically, very small decreases in the rate of decline on the TFC scale (13%), as well as the HD Independence Scale (17%) were detected. However, establishing that the beneficial effects registering in the range between 13-20% are not due to chance, requires a study with many more patients than were actually used in CARE-HD.
Consequently, the CARE-HD investigators, the Huntington's Disease Society of America (HDSA), the Huntington Society of Canada (HSC) and the Hereditary Disease Foundation agree that the CARE-HD results about CoQ10 are inconclusive, but do not indicate that HD should be treated with CoQ10.
In short, there is no definite evidence that any true benefit will result from a person in the early stages of HD taking CoQ10 as it was prescribed in this study.
I know the study results say there is little chance that CoQ10 can have a positive benefit to me, but if I chose to take it anyway, how would I go about it?
The decision to take CoQ10, despite the study results, should be done in consultation with a physician. CoQ10 is a nutritional supplement that is available in pharmacies and health food stores. The formulations of CoQ10 may differ chemically, affecting their activity and ability to be absorbed. Also, different additives may be present in many of the formulations of CoQ10. The effects of some of the additives in various preparations of CoQ10 are not known - there is no information about how these differences might affect a person with HD.
For more information about issues associated with CoQ10, contact the HSC at email@example.com.
The Huntington Study Group is hoping to conduct follow-up studies to better establish whether or not CoQ10 really does slow decline in total functional capacity for a person in the early stages of HD.
Are there other drugs being tested by the Huntington Study Group?
Filuzole is currently used in the treatment of ALS. The results of RID-HD (a small multi-centre trial to test the effect of riluzole on persons with HD) are expected shortly.
Creatine was shown to extend survival by 20% in a mouse model. CREST-HD is a clinical trial to determine creatine's ability to slow the progression of HD in humans. Results are expected shortly.
Minocycline was shown to extend survival by 14% in a mouse model. MINO is an 8-week safety and tolerability study for the use of minocycline in humans which should be launched shortly.
Separate from the work of the Huntington Study Group, Laxdale Pharmaceuticals is conducting a human drug trial of a new compound called LAX-101. This drug may help to protect the membrane of brain cells from damage caused by oxidation, and may help to alter the course of HD. The results of the test are expected by the end of 2002 or earlier.
While it is disappointing that CARE-HD did not yield more positive results, the trial is nevertheless a source of encouragement for the HD community.
First, the trial demonstrates that the Huntington Study Group is an effective organization with respect to identifying potential therapeutic options, and testing them through large-scale, multi-centre drug trials. Since part of the Huntington Society of Canada's research funding goes to the Huntington Study Group, we should be pleased that the Society is supporting an organization that is so effective.
Second, the research community is now in a position to focus additional resources on other options. Other drug trials, such as those examining riluzole, creatine, and minocycline may yet yield positive results, and will require significant resources if successful.
Exciting new initiatives designed to obtain information regarding the symptoms and progression of Huntington's Disease (HD) continue to be studied by the Huntington Study Group (HSG) under the direction of Ira Shoulson, MD. The HSG is an international consortium of more than 182 clinical investigators, study coordinators, scientists and staff from 60 participating sites in North America, Europe and Australia. Formed in 1993, the HSG strives to advance knowledge about the cause, process and clinical impact of HD in order to develop and test promising therapeutic interventions.
Before therapeutic studies can begin in healthy research participants (who carry the gene but who have no signs or symptoms of the illness) researchers need to systematically examine "at-risk" individuals over a sufficient time period. Such critical information will allow the HSG investigators to develop clinical trials aimed at postponing or preventing the onset of illness. The HSG has developed two research studies, PHAROS (Prospective Huntington At Risk Observational Study) and PREDICT-HD (Neurobiological Predictors of Huntington's Disease) in persons at risk for HD. These studies will determine how accurate the measures are that researchers use in detecting the onset of HD.
The HSG launched the first at-risk study, PHAROS, in July 1999. To date more than 570 participants have been enrolled. The HSG applied to the National Institutes of Health (NIH) for additional funding and we are in the final phase of review by NIH. Our goal is to enroll the remaining 1000 individuals required for the study by November 2001. The HSG research sites are seeking men and women between the ages of 30 and 55 years old who are at risk for HD. Research participants will be examined every nine months for a minimum of three years. Testing for the HD gene will be performed at the beginning of the study, but individual results will never be revealed to either the research subjects or the investigators. The PHAROS study is currently enrolling participants who have no definite signs of HD and who have never been tested for the HD gene.
PREDICT-HD is a parallel study developed by the HSG that recently received favourable approval from the National Institutes of Health (NIH) and we expect funding to be imminent. The goal of PREDICT is to define the earliest neurobehavioral and radiographic markers of HD. This study will also recruit individuals between the ages of 30-55 years. However, the PREDICT-HD study will enroll healthy research participants who already know they carry the HD gene. Participants will be examined regularly for five years, and will undergo brain imaging (MRI) as well as clinical evaluations. We anticipate enrollment to begin in November 2001. Further details regarding enrollment for PREDICT-HD will be available soon.
Therapeutic Trials in Progress
MINO (MINOcycline Dosing and Safety in Huntington's Disease) developed by the HSG, has been awarded funding from the US Food and Drug Administration's Orphan Drug Products Division, the Huntington's Disease Society of America, and the Hereditary Disease Foundation for a multi-center, double-blind, placebo-controlled study of minocycline. The study is designed to assess and gather information on the safety and tolerability of minocycline. This study will recruit participants who are 18 years of age or older and who have early manifest HD. Research participants are currently being recruited for this trial.
If you are interested in learning more about the HSG or any of these studies and a participating HSG site near you, please contact the HSG by logging on to our web site at huntingtonstudygroup.org for more information.
Acknowledgement for the articles 'CARE-HD Study Results' & 'HSG Research Studies': "Horizon", Research - Service - Education, No. 102, Huntington Society of Canada.
The January 2002 issue of Discover magazine reports the "Top 100 Scientific Advances of 2001". Read about HDSA's role in advancing HD research through its Coalition for the Cure.
New York, NY, December 21, 2001 - Over the past few years, Huntington's Disease (HD) has gone from being a virtually unknown disorder to one that is now recognized by the federal government as a "model" for other neurodegenerative diseases. In May, the Huntington's Disease Society of America (HDSA) formed a groundbreaking partnership in the neurodegenerative field through a joint sponsorship between government and a voluntary health agency. The incredible growth and accomplishments in the field of HD research have been recognized by Discover magazine (January 2002 issue) as one of the top 100 scientific advances in 2001.
Over the past year alone, several investigators from the Huntington's Disease Society of America's Coalition for the Cure, an elite group of HDSA-funded scientists, have made significant advancements in HD research. In March, Christopher Ross, M.D., Ph.D. and his team at John's Hopkins University discovered how the HD gene attacks and kills cells. The details of this significant achievement were published in the March 23rd edition of the journal, Science. Also published in Science this year was research by Elena Cattaneo, Ph.D. Her research discovered the role that normal huntintin protein plays in the brain. Most recently, Leslie Thompson, Ph.D. and her team at the University of California, Irvine made significant headway in halting and preventing the neurodegeneration that is characteristic in Huntington's Disease. This research discovery was published in the October 18th edition of Nature.
Since 1996, HDSA's commitment to research funding has grown from $183,000 to $4 million in the coming year, with a goal to raise $25 million for new research initiatives over the next five years. "The momentus in HD research continues to accelerate and we are very hopeful that effective therapies, and ultimately a cure, for Huntington's Disease are well within our reach," says Barbara Boyle, National Executive Director/CEO, HDSA. The answers we find for HD today may lead to therapies, and ultimately a cure, for Parkinson's, ALS (Lou Gehrig's disease), Alzheimer's and other related diseases.
Huntington's Disease is an inherited, degenerative brain disorder that results in the progressive loss of control of both the mind and the body. Each child of an affected parent has a 50% chance of inheriting the disease. Presently, there is no effective treatment or cure for this deadly illness that affects 30,000 Americans and places another 200,000 at-risk.
The Huntington's Disease Society of America is a national non-profit voluntary health agency that is dedicated to finding a cure for HD, by funding both basic and clinical research, while providing vital services to those affected by this life-altering disease. For more information about HD and HDSA please visit the national web site at hdsa.org. To read the Discover magazine article about HD, please visit discover.com.
Acknowledgement: Huntington's Disease Society of America (E-mail), 22nd December, 2001.
An Interview with Ros Tassicker - Coordinator
July 2001 marked two milestones for the Predictive Testing Program.
There was a personal one for Ros Tassicker in her work as a predictive testing counsellor, as it marked the 3rd anniversary since she commenced in this counselling role. It also marked the milestone of the 500th client in Victoria who has undertaken predictive testing for Huntington's Disease and received a gene status result.
We spoke with Ros about her experiences in the PTP.
Can you provide some statistics about the predictive testing outcomes?
Of the 500 clients who have received results:
What are some of your observations of peoples' reaction when they receive a gene negative result?
In general, a gene negative result is easier information to accommodate. However, there can be an initial period of shock, disbelief or confusion following a gene negative result. Many experience a great sense of relief; their future appears more straightforward. Occasionally, a gene negative result has complications. A person may feel distanced from brothers and sisters who are known or suspected to be gene positive.
Many gene negative people express that they believe an important future role for them is to help care for relatives with HD, observing that while they themselves may be free of HD, a gene negative result does not remove HD from the extended family.
What have you observed about the reactions of those who receive a gene positive result?
Where people find out they do have the HD gene they can experience a range of responses. Some can experience relief - the uncertainty is over. Some believe it is a confirmation of what they already sensed within themselves, even when no clear symptoms could be identified by the client. Many go through a period of adjustment, then tend to relegate this piece of information in the background. They think about it only when needed, to make particular decisions.
Clients who have been particularly optimistic prior to testing can find a gene positive result more difficult. A greater sense of emotional vulnerability and irritability initially is very normal. While a gene positive outcome does not indicate a person will develop symptoms of HD in the near future, an individual may undergo some 'anticipatory grieving' - feelings of sadness for their long-term future, which may not have been the future they had envisaged for themselves. Support from staff in the testing program, professionals in the community, from understanding family and friends, can all assist in easing the adjustment over time. A very small minority of those who have received a gene positive result say they wished they did not have this information, though many believe it is much better 'to know, to be able to plan for the future' than to not know.
Those who undergo predictive testing can experience relief from uncertainty whether they receive a gene positive or negative result.
What about the response from people who receive a result in the "grey zone"?
It must be said that this result is extremely uncommon, however, when it does happen, it can be a confusing result to accommodate. Individuals have undergone predictive testing wanting greater certainty. With this result, the gene is partly but not fully changed. After the considerable time and effort invested in testing, clients are still left with uncertainty. Some frustration can be tempered with optimism that symptoms may not develop, or if they do, at a later age than typical in HD.
Clients must choose for themselves to be tested, without pressure by an organisation, family member or medical practitioner. 'A decision' to test is not a one-off event: it would seem that at risk individuals' subjective perception of threat, and the unfolding of events in other parts of their lives (relationships, careers, children reaching certain ages, etc) all act as ever changing factors in a process of decision making. An at-risk individual will often revisit the picture of whether and when to undertake predictive testing. Timing of testing can be a sensitive matter.
When and how do parents communicate the risk of HD to their children?
I reflect that the 'goal posts' for each generation around life, decisions and HD continually change. The degree of information, and therefore choices, that can be made by an individual shifts over time and generations.
Illness, generally, is not a socially taboo subject: most school age children in Victoria are aware of the MS read-a-thon, for example. Most secondary school students are aware of sexually transmittable diseases and the need to behave responsibly with regard to their sexual behaviour. Many secondary school students can and do accommodate information and risk in numerous areas of their lives. Many will learn about HD in genetics/biology classes.
The task for parents to communicate to young adult children about risk of HD seems to be harder when there has been a climate of secrecy about HD in the family. HD may have been a taboo subject in the family-of-origin for the parent. Often, secrecy has been maintained with the motivation to protect children from worry. Parents have a particularly difficult - but not insurmountable task when this pattern has developed.
Those in the younger age group I see (e.g. 18 - 21 years) who undertake predictive testing, and enthusiastically "get on with life" afterwards, have experienced a family life where HD is openly talked about, and those with HD accepted and included as much as practicable. A family environment of this kind seems to foster openness, trust and resilience.
Why the counselling?
I am frequently asked this question. In short, the rationale is for legal purposes as well as practical and psychological preparation.
Legally, if a medical practitioner or health service provides a test, the patient (client) must be told how the test will be performed, the accuracy, cost and possible short and long term repercussions. Provision of this information allows for an informed decision to be made by the client - a legal requirement.
Practical implications of taking a test can include discussion of issues such as insurance. This can be obtained, at increased premiums, by people at risk, but not people who are found to have the HD gene. Life insurance is therefore a matter which should be looked into before predictive testing. Restrictions may also apply to taking out mortgage protection or income insurance policies. Having the gene without symptoms does not count as a pre-existing condition for insurance purposes. In terms of employment, an employer does not need to be told a gene test result.
Psychological preparation provides the opportunity to reflect on some of the issues and thereby forms preparation for both possible test outcomes.
What is the response of people to the counselling process?
While all predictive testing programs include counselling, clients' feedback on this has not been researched. I am facilitating a research project with two researchers external to the predictive programme to look at clients' expectations and experiences of the counselling process. There will be more information about this in a future newsletter.
What might be the impact on relationships for those going through predictive testing?
Relationships can change as a result of undertaking predictive testing - between a couple, between siblings, with children, parents and with non-related others. An individual's view of themselves can change as a result of testing. Thoughts, feelings and possible plans for the future can be impacted on by a test result. How has the individual (or couple) got through previous crises or difficult events in their life? Counselling allows for opportunity to reflect on some of the possibilities and thereby forms preparation for both possible test outcomes.
Little research has been undertaken on couples, who are usually seen together through testing. Some overseas findings suggest the spouse/partner of the gene positive person may experience more difficulties adjusting to this information than the client themselves. Fiona Richards (Coordinator, Predictive Testing Program - Sydney), is undertaking in depth research on couple relationships after predictive testing.
Is genetic testing available for people planning to have children?
At MMC, IVF treatment can now be accessed by people with a known, serious genetic condition in Victoria. This new option, known as preimplantation genetic diagnosis (or PDG), ensures that couples can have their (biological) children, knowing that the HD gene has not been transmitted. The first pregnancy via PGD for a couple with the HD gene is underway in Victoria. Couples can opt for prenatal testing.
Predictive testing at any age is likely to involve some trepidation, perhaps some anxiety, and monumental courage. I continue to be amazed at individuals' resourcefulness, and I feel privileged to share this strategic time in my clients' lives.
I take this opportunity to acknowledge and thank my clinical colleagues and I particularly commend the efforts of the HD Association, who help to dispel so many of the HD myths, and work with impressive skill and enthusiasm with Victorian families.
Acknowledgement: "Contact" Number 13, November 2001, AHDA (Vic.).
This is a new section for our newsletter where we intend to highlight useful and new publications kept in our library. Currently the most popular set of books for carers and professionals is:
'The Caregiver's Handbook for Advanced-Stage Huntington's Disease'
These books are available for loan or sale.
"When one door of happiness closes,
Centrelink provides two payments for carers:
· Carer Payment; and
For more information about Carer Payment, and more detailed information about eligibility, telephone Centrelink on 131 021.
Carer Allowance (used to be known as Domiciliary Nursing Care Benefit)
For more information about Carer Allowance, and more detailed information about eligibility, telephone Centrelink on 131 021.
You can claim both of these payments in the combined claim form.
Future Fundraising Activities -
ART UNION - Framed Tapestry
Cost of tickets is $1.00 each. Please refer to enclosed flyer for further details on the raffle and post your order form for tickets to the HD Office. The raffle will be drawn in time for Mothers' Day.
Aladdin's Bazaar - Hedy and Patrick Keogh have once again offered to give of their time on our behalf to stage the Aladdin's Bazaar at Ipswich on the 26th May.
If you have an hour to two to spare, drop in and show your support to Hedy and Patrick for the tremendous effort that they display each year on behalf of the Association and also take the opportunity to enjoy the various activities being held throughout the day.
For further details, please refer to the enclosed brochure.
Community Assistance - Recently we have received, and gratefully acknowledge here, major financial assistance from the following donors:
A. Harding Smith
We are currently updating our mailing register and ask that members advise us of any changes to their address.
March 19 Management Committee Meeting - 6.00 pm at HD Centre, Annerley
May 14 Bundaberg Family Support Meeting - 7.00 pm at Railway Hotel, Bundaberg
Copyright © 2001-2019 Australian Huntington's Disease Association (Qld) Inc. All rights reserved.