Newsletter Feb 2004
In This Issue
Welcome to 2004. I hope everyone had a lovely Christmas and that the festive season was one to remember. Your Management Committee has a big year ahead and as usual fundraising activities are foremost in our sights.
I want to take this opportunity to sincerely thank everyone who has contributed to our fundraising activities during 2003. Particular thanks must go to all the generous people who donate to our Association. Your generosity is appreciated more than you realize. Please be assured that every cent is welcome and is used to support families affected by HD in Queensland.
We have planned a full year of fundraising activities that includes the following:
In summary, we need your support for our fundraising activities. Your assistance will be more than appreciated.
Reminders of outstanding Membership fees were mailed out late last year and I am very encouraged by the response. Thank you to all who have since paid their fees. It is very important to our Association to have a strong membership so if you know someone who would like to be a member of the Association, please encourage them to contact our office.
In our last Newsletter we mentioned that there would be some changes to our Day Centre operations. These changes begin this month and already our people are excited about the new approach to providing better care to all concerned. In the next Newsletter we will advise you just how successful the changes have been.
I am sorry to have to inform you that Jan Hannah-Munster has resigned from her position as Welfare Officer. I know everyone will be sorry to hear that she is leaving. We are extremely sorry to see Jan go and wish her every success in the future. Jan, you have been a breath of fresh air and your tireless endeavours will be missed by everyone who had the pleasure to work with you.
Ray Bellert, President
I have recently tendered my resignation from my position as Welfare Officer. We are living in a time when everything moves quickly, and where people do not stay in one place of employment all their working lives. This can be unsettling for the people one works with, but can also be the opportunity for growth within both individuals and organizations. I feel ready to face different challenges in my new position with the Australian Red Cross.
Each person brings with them a set of attitudes and skills which add something to the organization, and gives something to the people they work with. I am sure the person who replaces me will bring a new set of skills and energy to the HD Office.
For myself, I feel I have been richly rewarded for the efforts I have put into my work here. I am humbled by the people I have met who have HD and face the future with optimism and hope, bravery, and often a wicked sense of humour. I am humbled by the strength shown by families who live day to day with the issues which arise when one of their family members has HD.
I will continue to maintain my interest in HD, and wish for the cure or appropriate treatment which I feel positive is not too far in the future.
Finally I wish to say thank you to my colleagues: the Management Committee, the staff and the volunteers who work together to provide a better future for those with HD.
I hope you have recovered from the Christmas festivities and I wish you and your families all the very best for the coming year.
Let's take a look back at the last six months of 2003. The Support Group was extremely busy with welfare activities and fundraising. The dedication from people in our Support Group made it possible for clients and families to attend some of the outings such as picnics in the park, morning teas, movies etc.
Mt. Stuart Lions Club organized our Annual Christmas BBQ at Riverside Park on the banks of Ross River. The Support Group presented gifts to all our clients. The Lions Club supplied food and drinks. Thanks to all the Support Group ladies who brought food along. Everyone enjoyed themselves and the whole outing was greatly appreciated by all who attended.
The Group has been busy raising funds for welfare activities to support clients and families in the Townsville area. A big thank you to those people who gave of their time in support of activities such as selling tickets in the Victa Mower Art Union and Lions Christmas Art Union and manning the Lions Car Park at Castletown.
Last October Gwen Pratten, Welfare Coordinator, made a visit to Townsville. Gwen visited many clients and families in the Townsville area during her stay.
In the coming year, 2004, we hope to reorganize our welfare program. We will notify all families in the Townsville area when we have more details. Kind regards,
Vic Wakefield, Chairperson
As mentioned in our last edition of "Gateway", the World Congress on HD, scheduled for Toronto, Canada, in August did not go ahead as planned due to the "big blackout". However a smaller, revised conference was held for those who were able to get to Toronto. The following are some of the highlights of that conference.
The Huntington Study Group was formed in 1987. There are now 60 active sites in USA, Europe and Australia with 250 clinical investigators and scientists. The HSG is supported by Huntington Disease Society of America, the Huntington Society of Canada, the Hereditary Disease Foundation and the High Q Foundation.
Entering coded clinical data about HD patients assessed by the Unified HD Rating Scale into central database provides the basis for clinical trials.
Clinical trials are based on the outcomes of mouse studies.
Co-enzymeQ and Remacemide were tested in a a double blind placebo study with 450 patients with early stage HD. It was found that Remacemide decreased chorea and was safe but did not slow progression.
Coenzyme Q at 600 mg/day showed a 15% slowing of the rate of progression, but this is not enough to prove effective. However a trial with Parkinson's disease on 1200mg/day has found a 40% slowing of rate of progression.
Two studies with pre-symptomatic people at risk are being conducted.
Neurosurgical Approaches to Therapy for HD
Seven to ten week fetal brain cells will form new connections if the brain is damaged and if cells specific for damaged area are used.
Of the five early stage HD patients who underwent surgery, one did not improve. Of the four who showed improvement, one did so significantly but then lost everything. The three others showed sustained improvement after 12 months, both physically and cognitively.
The trial is to be expanded to 50 patients across 7 centres in UK and Europe and it is hoped the trial will be completed by 2007.
Cell Dysfunction Rather than Cell Death
Transgenic mice studies have shown that the cause of HD symptoms may not just be due to cell death but also to cell dysfunction. HD cells are unable to release neuro-transmitters at normal rate and they also don't respond to toxins in normal way but are resistant. Therapy needs to be found to prevent cell dysfunction.
European HD Research Network
Formation of a European HD Research Network with funding from US High Q Foundation. The network will cover Italy, UK, Germany, The Netherlands, France and Sweden and it will establish the same clinical database as the HSG.
It is planned to run Phase 2 (tolerability) trials of 3 compounds, with one commencing in 2004. There is a plan to look for biomarkers and a PREDICT type study which will include PET scans, will also commence.
Counselling Issues in Predictive Testing
Non-consensual predictive testing, that is, where requests for predictive or prenatal testing may reveal a result for another person who does not want to know, has complex counselling and legal issues. Does the clinician have a legal or clinical responsibility to a person who has not contacted the genetics service?
Two requests were received for prenatal testing by women whose partners are at 50% risk but do not want testing. A positive prenatal result gives an answer for the partner. There is no clear legal advice regarding this issue.
Two cases of identical twins where one twin wanted the test and the other did not have arisen. In both cases, legal advice was to go ahead with the tests and to warn the non-tested twins of possible harm and encourage them to seek support from genetic services/
Pre-implantation Genetic Diagnosis
Preimplantation genetic diagnosis (PGD) for HD commenced in the UK in May 2002. Prospective parents undergo extensive counselling to discuss the process of PGD, including the welfare of children born into a family where one parent will become symptomatic.
Nine couples have undergone treatment with four couples becoming pregnant. One miscarried triplets, one had twins, two couples have ongoing pregnancies and five couples have not achieved an ongoing pregnancy.
Despite a misdiagnosis risk of 2-5% per embryo, all couples decided against confirmatory prenatal diagnosis and under the protocol no confirmatory testing is possible at birth.
Despite its complexity, PGD offers an acceptable alternative to routine prenatal diagnosis.
PEG Feeding and End-Stage HD
Feeding using percutaneous endoscopic gastrostomy (PEG) has been suggested as a means of providing additional calories in a safer and more reliable fashion. PEG feeding raises a number of ethical issues because it is a form of artificial feeding and it does not remove the risk of aspiration. It will not cure HD, but it may sustain life. None the less it is often put into place with little or no discussion with the patient or his family. There has been little debate about withholding or withdrawal of such feeding which some view as treatment and others as basic care, yet the dilemma occurs frequently as the HD patient deteriorates.
In a survey of members of Scottish HD families, only 6.9% had discussed PEG feeding with their doctor. Although the patient's wishes should override doctor's, it is often too late and there have been some bad situations.
It is recommended that patients and their families be involved in decision making well ahead of time and that the possibility of 'living wills' and 'power of attorney' be investigated.
Sexual Behaviour in HD
Previous reports in the medical literature, including that of Huntington himself, have suggested that HD is associated with hypersexuality. However the only study to date which examined the issue systematically using modern research methods found no evidence to support this (Fedoroff et al., 1994).
Dr Craufurd and his colleagues investigated libido and sexual behaviour as part of a broader study of behaviour in patients with HD.
The study involved 134 HD patients, representing all stages of HD. The following changes in sexual behaviour were reported:
There was significant correlation between loss of libido and progression of disease and significant correlation between sexual behaviour (that is demanding and/or disinhibited) and behavioural features such as irritability, aggression, lack of insight, obsessiveness, perseveration.
The conclusions reached are: hypersexual behaviour is rare in HD and affects a small minority of cases only. Loss of libido and hyposexuality are much more common and correlate strongly with other measures of disease progression.
Reduced Penetrance Alleles in HD
Four types of predictive test results may be recognised: <26 repeats is unequivocally normal; 27-35 repeats is normal but in a range which may give rise to abnormal expansions in future generations; 36-39 repeats is abnormal but the individual may or may not develop the condition; 40 or more repeats is unequivocally abnormal. There are no empirical risk figures for individuals with a result in the 36-39 range. A survey of UK laboratories indicated that there had been at least 170 results in this range from both pre-symptomatic and diagnostic tests.
Ethical committee approval has been obtained to allow anonymous collection of data on age of onset or age last known to be asymptomatic for each case with a result in the reduced penetrance range. As part of the study, DNA samples will be re-analysed. All 21 UK centres have agreed to participate in the study.
Information collection started in Feb 2003; so far, data is available on 41 cases: 26 are affected with ages of onset ranging between 38-80 years; 15 cases are asymptomatic with ages ranging between 35- 7l years; 16 of the 41 cases are or would have been asymptomatic at the age of 60 years. Data collection will continue for the rest of the year.
Reproductive Decision Making Before and After Predictive Testing
This study, an update of an unpublished 1997 study, retrospectively examines the reproductive decisions of 373 adults who underwent predictive testing for HD in Sydney between 1990 and 2002. Data were collected from genetics records and follow up contact. The total group consisted of 175 males and 198 females. Of these, 222, (59.5%) had one or more pregnancies prior to predictive testing.
The results of this study support previous research that reports a low uptake of prenatal testing and other reproductive options.
The Effect of Huntington's Disease on the Ability to Respond to Conflicting Spatial Stimuli
The conclusions from this study support the notion that cognitive deficits in HD may stem from abnormalities of the major pathways interconnecting the basal ganglia and the frontal lobes.
Study of Juvenile HD Patients of Italian Origin
This study analyzed a population of juvenile HD subjects of Italian origin (n = 57). The main aim of the study was to analyze the gender effect of the affected parent on age at onset and clinical presentation of offspring with juvenile HD. The findings suggest the occurrence of a weaker effect of the paternal mutation on juvenile age at onset in our population, possibly amplified by other genetic factors.
Homozygosity in HD
HD patients with two copies of the HD gene are very rare. As this genetic condition is rare and its implication with the severity of HD has never been pointed out so far, it has never been contemplated by the predictive testing (PT) programs. It would therefore be of relevance for international guidelines and predictive testing programs to document the existence of unusual genetic conditions which may require different strategies in the genetic counselling approach according to the possible diverse scenarios occurring within the families.
This study documented the existence of 14 subjects with two copies of the HD gene. Two of them were unaffected and, therefore, in a presymptomatic stage of life while some of their relatives had 100% risk to be mutation carriers. Two patients came from families from small areas/communities of Northern Italy and Israel, where marriages occurred among relatives potentially contributing to HD clusters. A patients' tissue bank has been set up and potential biological differences are being investigated.
Assessment of Change in Cognitive Function
Cognitive impairment is a core feature of HD. Neuropsychological tests that are sensitive to the presence of HD are well established. However, longitudinal studies of the natural evolution of cognitive change have been relatively limited, so that it is much less clear which tests are most sensitive to change in cognition over time. We reviewed existing longitudinal studies from the US and Europe, examined the types of measures that were used and identified those measures demonstrated to be most sensitive to change. Our own study of asymptomatic people who carry the HD mutation reveals complementary findings. We argue that simple rather than sophisticated, cognitively demanding neuropsychological tests provide the best tools for measuring change in HD and for use in clinical trials.
Walk and Drink Times.
Reliable measures of motor progression in Huntington's Disease are essential for the evaluation of new treatments now being tested. The Unified Huntington's Disease Rating Scale (UHDRS) is generally accepted as a sensitive tool for this purpose.
In practice, however the utility of the UHDRS for longitudinal studies may be limited, particularly where frequent assessments are required. Scores may be affected by variation in chorea from one appointment to the next due to the impact of emotional state on the severity of involuntary movements. The gradual decline of involuntary movements in late stage disease may also cloud the issue.
In addition to the UHDRS motor scale we have used two further measures for evaluation of motor progression of HD. Both are simple quantitative assessments which require no special equipment to carry out. They are also easily reproducible by non-medical personnel. Patients are timed as they walk a fixed distance (including a 180 degree turn) as fast as they can.
They are also timed a they drink 130mls of water as fast as possible. Data were collected from 97 individuals affected by HD of whom 47 were male and 50 female. Ages ranged from 22 to 81 years and duration of illness varied from 1 to 21 years. The shortest walk time was 10 seconds and the longest 85 seconds. There was even greater variability in drink time from 5 to 330 seconds.
There was a highly significant correlation between duration of illness and both walk time and drink time as well as between the two measures themselves. These new measures can therefore be used as simple and reliable additions to the UHDRS motor scale when considering longitudinal outcomes.
Social Cognition in Huntington's Disease
Altered social conduct and a breakdown in interpersonal relationships are prominent features of HD. Patients are often described as being self-centred, demanding, mentally inflexible and lacking in empathy for others.
The factors underlying this breakdown in social cognition remain poorly understood. The aim of this study was to investigate the ability of HD and frontotemporal dementia patients to make social inferences.
A novel social cognition task was developed, which aimed to minimise demands on other cognitive functions. Patients were presented with simple, illustrated vignettes that depicted everyday social situations and were required to answer a series of questions tapping their ability to understand the beliefs, thoughts and feelings of the characters depicted, and to draw inferences about the social situations, which necessitated going beyond the information given.
The results demonstrated that although both patient groups were impaired relative to controls, the pattern of errors differed between the two groups. As in our previous study, the HD patients were particularly impaired in the ability to draw appropriate inferences from social situations. The finding that HD patients make faulty social inferences has implications for understanding the breakdown in social behaviour in HD.
New Neurons in HD
The recent demonstration of endogenous stem/progenitor cells in the adult mammalian brain raises the exciting possibility that these undifferentiated cells may be able to generate new neurons for cell replacement in neurodegenerative diseases such as HD. This is the first study to map the pattern of stem/progenitor cell proliferation in an area of the brain adjacent to the caudate nucleus of the basal ganglia and provides new evidence of the pattern of neurogenesis in the human brain.
HD in Japan
The prevalence of HD in Japan is 1 per 100,000 compared with 6 per 100,000 in populations of European origin.
The Japanese HD Network (JHDN) is a web-based support group for HD families
Caregiving is a major issue in Japan.
Treatment of HD Using Essential Fatty Acids
The brain is unique in high concentration of long chain, highly unsaturated fatty acids (HUFA) which play an important role in the structure and function of brain tissue.
Highly unsaturated fatty acids have been implicated in a number of neurological conditions from Alzheimer's disease to Huntington's disease. In one treatment case example, serial neuropsychological assessment data over a six year treatment period show limited variation in scores but not progressive deterioration in measures of executive and new verbal learning ability. At the last assessment, all test scores were within one standard deviation of baseline values. The lack of deterioration across such a long time scale, and with a 20 month gap between the last and the penultimate assessment times, suggests that treatment with HUFA therapy has been clinically beneficial.
Innovative Approaches to Improving the Acceptance of Texture Modified Diets
We have looked at innovative approaches to enhance the acceptance of texture modified diets and to reduce the impact of such diets on people's quality of life. In 1999, a resource package called "Shop to Swallow" was launched. It provided people with a range of foods available in the supermarket suitable to each of the soft, minced and puree textured diet categories. Photographs provided a visual display of foods to assist with client awareness and the food lists assisted people with planning and shopping.
Food moulds alter the appearance of the pureed food to more closely resemble typically prepared food. A pre and post implementation study was conducted in June 2003. Moulded puree meals show promising preliminary results in enhancing the visual presentation of texture modified food without compromising taste and ease of swallowing.
Acknowledgements: Robyn Kapp, AHDA(NSW); Fiona Richards, The Children's Hospital Westmead; WCHD Congress Program Book.
Genetic information which includes a family medical history and the results of predictive genetic tests may have implications for your options for insurance cover such as life, disability, trauma, business and insurance relating to bank loans. Predictive genetic testing refers to testing in a person who currently does not have symptoms or signs of disease, but may be at increased risk due to their family history. Predictive genetic testing is currently available for a limited number of inherited conditions, including Huntington Disease.
IFSA's policy is explained in an 8-page fact sheet "Life Insurance and Genetic Testing in Australia". It is available from IFSA through its website (www.ifsa.com.au) or by telephoning (02) 9299 3022.
Policy applications usually require a disclosure of any known genetic information. This information, depending on the condition involved, may or may not lead to higher (non-standard) insurance premiums, a reduced period of coverage, an exclusion for one or more medical conditions, offer of an alternate insurance product, deferral or denial to insure you.
Costs of insurance, and the ability to obtain insurance cover, may vary between different companies depending on your risk. You may wish to make applications to a range of companies at the same time. An insurance broker or agent may be helpful in this process.
Insurance for a limited amount may be available with your superannuation plan. This is called "group insurance" and therefore not subject to health information , including family history and genetic testing results. However if you require insurance for a higher amount, the application will require disclosure of this information.
Insurance policies offered by Life Insurance companies in Australia are "guaranteed renewable" so that you only have to apply for the cover once and are not subject to providing any other information for the period of cover. Under law, in the time between your application for this type of policy , and it being approved and accepted, you are required to inform the insurance company of anything that may impact on their offer of insurance. Once this type of policy has been issued you are no longer obliged to inform the company of any changes in circumstances, such as the result of a predictive test. Nevertheless, if a predictive genetic test result indicates you are at lower risk than estimated based on your family history alone, you may wish to inform your insurance company so that your policy can be reassessed with this new information.
However, insurance policies that are offered by General Insurance companies covering "sickness and accidents" are renewable during the time of cover of the policy. At every renewal period, you will be required to disclose any information that you now have, including any change in genetic information (family medical history or predictive genetic test results). With these policies, each renewal period is like making a new application.
Under the Insurance Contracts Act 1984, a person applying for insurance has a duty "to disclose to the insurer every matter that you know, or could reasonably be expected to know, that is relevant to the insurer's decision ...". Some will ask for more details than others. You are obliged to provide answers to the questions asked honestly and to the best of your knowledge.
All information regarding predictive genetic testing and insurance issues should be carefully considered.
Acknowledgements: This article has been reproduced from the brochure "Genetic Information and Life Insurance Products in Australia" which was produced by The Centre for Genetics Education, with the assistance of
Copies of the brochure are available, free of charge, from
Community Assistance - We have received, and gratefully acknowledge major financial assistance from the following donors:
The Cookie Drive proved a successful fundraiser. $740.00 was raised due to the many orders received from our members. Thank you for a great effort.
The Ipswich State Emergency Services raised over $1100.00 at their recent fundraising day. Proceeds were forwarded to the Association in December. Our sincere thanks and congratulations are extended to the SES at Ipswich and Goodna for what they achieved on the day and also for their ongoing commitment to families in the Ipswich area. Representatives from the Association who attended enjoyed the friendship and generosity extended to them.
The Christmas Hamper Raffle was won by Mrs Bartlett, ticket number 1179 with proceeds to the Association of $380.00.
In addition, the Rotary Club also donated $1000.00 to the Association for assisting them with their recent book sale.
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The Brisbane City Council extended an invitation to the Association to collect funds at the Brisbane Gives Donation Station at the Christmas Charity Markets. Through the efforts of Carol and Gwen, $287.00 was raised. Great effort girls! Many thanks also to the Brisbane City Council for giving us the opportunity to collect and to raise awareness of Huntington's Disease.
Movie Night - 12TH March. Guaranteed to be a fun night so please talk to your family and friends and join us for an entertaining evening. The movie title is yet to be decided; however it will suit the whole family. Ring Barb at the HD Office for more details.
Sausage Sizzle at Bunnings, Cannon Hill - 3rd April. We expect this to be a very busy day, and welcome any assistance offered by readers. If you can volunteer your time, give Barb a ring at the office.
The efforts of staff, Committee Members and volunteers during 2003 were rewarded with a good result in fundraising. Your support will ensure that we can go that step further in 2004.
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