Newsletter Sep 2004
In This Issue
The Annual General Meeting held on the 14th September was well attended and we were delighted to welcome our guest speaker, Belinda Daly who shared her personal story about I.V.F. and Pre-Implantation Genetic Diagnosis (P.G.D.) Belinda was very honest, open and informative and was willing to share the challenges she and her husband encountered, along with the joys of giving birth to a child who does not carry the HD gene. Belinda was happy to answer questions from the floor and to mix with family members during supper.
Likewise, Dr. Julie McGaughran of the Queensland Clinical Genetics Service explained some of the genetic implications involved in P.G.D. and also answered questions from the audience.
Thank you to both of our guests for sharing their knowledge with us.
We were delighted to present Rob Farmer, a volunteer with the Day Respite Program since his retirement from the workforce in 1993, with Life Membership of the Association. Rob assisted at the first Queensland Day Respite Centre in Caboolture as a driver, later moved to the Association's Day Respite Centre in New Farm, and made the move when the program relocated to the HD Centre in Annerley, continuing with his roles of driver kitchen hand and handyman.
Rob's consistent and reliable support has ensured a large number of the clients attending the Day Respite Centre have enjoyed a vastly more interesting and fulfilling life. Thank you Rob.
There have been some changes in membership of the Management Committee. The following people have been elected:
Committee Members: Carol Banasiak, Stan Banasiak, Peter Byrne, Cliff Farmer, Iris Simpson and Anita Smith.
Jan Mealy resigned from her position as Treasurer. We thank Jan for taking on the responsibility as Treasurer and also for her valuable input at meetings.
A reminder about Membership fees. Thank you to those who have sent in their fees and in many cases generous donations. If your Membership fees are still outstanding, could you please return your form along with the appropriate fee at your earliest convenience.
Thank you to everyone who has contributed to a very successful 2003/2004 year.
Ray Bellert, President
AHDA (NSW) Executive Officer Robyn Kapp addressed the Federal Government's Senate Inquiry on aged care in August. She spoke of the current difficulties faced by younger people with HD trying to enter aged care facilities and emphasised the need for specialised nursing home-standard care for people with HD. Below is an extract from the address she made to the inquiry on behalf of Huntington's Disease Associations across Australia.
Today there are essentially two options for people with HD seeking places in long term residential aged care facilities. They are:
After 10 to 15 years from the onset of symptoms, most people with HD will require nursing home standard of long term care. However some people need care earlier than this. They include:
The only option for many young people with advanced stage Huntington's Disease (HD) is placement in nursing home facilities for the frail aged. Even then they are faced with extreme difficulties primarily because Aged Care Assessment Teams (ACATs) refuse to assess them - primarily because they are under the age of 65 and are therefore the responsibility of the State Government under the State and Territory Disability Agreement. If they are fortunate enough to be assessed, nursing homes often refuse to take them because of their age, the complexity of their support needs and the challenging behaviour associated with the progression of the disease.
This means young people with HD whose average age is approximately 50, (and assuming they can secure an ACAT assessment and a place in a nursing home facility to begin with) end up living with people whose average age is 80. For these young people with HD it means missing out on a range of specialist medical and health services as well as activities designed to enhance their quality of life such as diversional therapy, including outings and social interaction with their peers.
Specialist units, such as Huntington Lodge at Lottie Stewart Hospital in Dundas (NSW), that accommodate many young people with HD - the current age range of their patients is between 33 and 54 years - are few and far between. I know from both personal and professional experience that young people with HD living in nursing homes certainly do not experience the same rights and standards as young people with HD living in Huntington Lodge. For example, at Lottie Stewart Hospital there are staff experienced in HD including nursing staff, physiotherapist, occupational therapist, dietician and speech pathologist. There is also regular input from a neurologist and psychiatrist.
The Australian Huntington's Disease Association (NSW) and the Associations in Qld, WA, SA, Victoria and Tasmania strongly believe that aged care facilities are inappropriate for young people with advanced HD who are no longer able to live independently. To raise the standard of care and the quality of life of people affected by HD we would implore the Commonwealth, State and Territory governments to take a collaborative and proactive approach to decision making on this issue. As we see it, the only appropriate course of action in the short term would be for all governments to consider developing more specialised nursing home care for people with HD (based on the models currently operating in Victoria, NSW and WA) and issuing a joint directive to ACAT teams that people with Huntington Disease under the age of 65 must be assessed for nursing home placement.
* * * * * *
The Queensland position
Since 1999 Cliff Farmer and I have been working toward the establishment of a caring facility for younger people with Huntington's Disease in Queensland. Some of you will recall an application for an HD unit in the grounds of Prince Charles Hospital at Chermside. This was rejected on the grounds of unavailable funding from the State Government. As Robyn has indicated, high and low level nursing home beds are funded by the Commonwealth Government, however to successfully run a specialist HD unit, annual State Government funding would also be required.
We have continued to consider options of providing supported accommodation for people in the earlier stages of HD. In particular those individuals living alone or those living in boarding houses no longer appropriate to their needs.
We have attended meetings with staff from Disability Services (Qld) and are currently in the process of trying to acquire funding application approval. This is a slow and in depth process.
Following a recent ABC TV Stateline segment, we have an appointment with Queensland Health to further discuss these issues and hopefully apply further pressure for a solution to the situation surrounding younger persons in nursing home care.
New Technique for 'switching off' genes could end fatal brain diseases
By Steve Connor, Science Editor
Incurable brain disorders, such as Huntington's disease, could soon be treated using a revolutionary technique for "switching off" disease genes. In a groundbreaking study, scientists have shown for the first time that it is possible to stop a progressive brain disease in mice with a genetic technique known as RNA interference (RNAi).
The research raises the possibility of using the method to treat degenerative brain conditions such as Alzheimer's. Specialists in Huntington's, a fatal inherited disease that strikes in middle age, are particularly excited with the results.
The latest research was carried out by a team led by Beverly Davidson of the University of Iowa who used RNAi to correct a genetic defect in mice suffering from a progressive brain disorder similar to Huntington's disease in humans.
Mice with the inherited defect that were given the RNAi treatment did not develop the symptoms seen in untreated mice. Nor did the treated mice show any signs of suffering from toxic side-effects, indicating that the technique is safe.
"I'm extremely excited about the potential of RNAi and cautiously optimistic about its possible use in human medicine," Dr Davidson said.
RNAi works by shutting down or "silencing" a disease gene while leaving other healthy genes untouched. This makes it perfect for treating Huntington's disease, a "dominant" genetic defect caused by a single defective version of a gene that people inherit as two copies, one from each parent.
Conventional gene therapy, which attempts to add a healthy version of a gene that is missing or defective in a patient, would not work for Huntington's because in this disease it is necessary to stop the defective version of the gene from causing a build-up of toxic proteins in the brain. The RNAi process used by the Iowa team specifically targeted the defective Huntington's gene by silencing it, leaving the healthy version of the same gene to carry out its vital duties.
"This is the first example of targeted gene silencing of a disease gene in the brains of live animals and it suggests that this approach may eventually be useful for human therapies," Dr Davidson said. "We have had success in tissue culture, but translating those ideas to animal models of disease has been a barrier. We seem to have broken through that barrier," she said.
Nancy Wexler of Columbia University in New York, a world authority on Huntington's disease, said RNAi offers the most promising potential treatment for the disease she has seen. "When I first heard of this work, it just took my breath away. It's everything you ever wanted to hear and more," said Professor Wexler, president of the Hereditary Disease Foundation in New York and a member of the team that originally discovered the Huntington's gene.
Phillip Sharp, a Nobel laureate from the Massachusetts Institute of Technology in Boston, said Dr Davidson's findings were "striking" because they demonstrated that RNAi may work for human patients suffering from a range of debilitating brain diseases. "It shows that, in the context of the biology, it's possible to do. This is a significant step, there's no doubt about it," Professor Sharp said.
Dr Davidson said further animal research would be necessary to show that the technique was safe and effective before it could be used on humans.
The first clinical trials on Huntington's patients, or people with related brain disorders, are likely to begin within the next five years provided there are no signs that the technique is dangerous in humans.
Huntington's disease is a good candidate for RNAi treatment because a genetic test already exists to see who has inherited the condition. Secondly, treatment could begin long before the onset of the first symptoms. The disease affects 1 in 10,000 people. Patients suffer severe physical and psychological degeneration.
Acknowledgement: Bron: the Independent
Scientists have found a drug which appears to slow the progress of the debilitating condition Huntington's Disease, which currently has no cure. Animal tests by Cambridge University researchers showed that rapamycin also delays the onset of the disease. The drug is already used in humans to prevent organ rejection after transplants. Huntington's Disease groups hailed the research, published in Nature Genetics, as a significant advance.
The disease, caused by a mutation in the huntingtin protein which makes it become toxic, is an inherited condition. It affects the central nervous system and can lead to loss of muscle control, dementia and depression. Huntington's normally affects people in middle age, but it can strike at any time. It is estimated that around 50,000 people in the UK either suffer from the disease or are at risk of developing it.
The research by the Department of Medical Genetics at Cambridge University, funded by the Medical Research Council and the Wellcome Trust, found that rapamycin can reduce the levels of a toxic protein causing Huntington's. It does this by speeding up the break-down of the protein in cells.
Dr David Rubinsztein, who led the research, said: "This is an exciting development which could be tremendously important for people suffering from Huntington's Disease. "Rapamycin is designed for long-term use, which is obviously crucial for someone who has this disorder. "It is not without side effects, but you could argue that you'd be balancing side effect risk with the potential benefits." He said more research would need to be carried out before the drug could be used to treat Huntington's in humans, but studies would be done "as fast as possible".
Dr Rubinsztein said the fact it was possible to test someone to assess their risk of developing Huntington's meant it would be easy to target the drug treatment at those who would benefit from it.
Susan Young, a regional care advisor for the Huntington's Disease Association (England & Wales), said: "At the moment, the drugs that we use are to control each of the individual symptoms, not the disease.
Ms Young said once it became available, people may be more willing to be tested to see if they are likely to develop Huntington's. Many currently prefer not to be tested because there is nothing that can be done to prevent the disease's progression.
Acknowledgement: BBC NEWS: http://news.bbc.co.uk/2/hi/health/3715949.stm
Reprinted: "Gateway" AHDA (NSW) Inc. Volume 7 No 3, May/June 2004
The development of therapeutics for Huntington's Disease
Gillian Bates, Medical and Molecular Genetics, GKT School of Medicine, King's College London.
The mutation that causes Huntington's disease (HD) is an increase in the number of copies of the DNA sequence 'CAG' which occurs close to the beginning of the HD gene. People who have up to and including 35 CAGs in their HD gene remain unaffected whereas those with 40 and above will develop HD within a normal lifespan. Repeats of 36-39 confer an increasing risk of developing the disease. These extra CAGs result in an abnormally long stretch of glutamines (a protein building block represented by the single letter Q) in the HD protein: huntingtin. This protein is found in all cell types in all tissues and is present before birth and throughout life.
The HD mutation has pronounced effects on the brain and causes brain cells (neurons) to malfunction and to die. It forms clumps, or aggregates of the huntingtin protein in all parts of neurons throughout many regions of the brain, causes a generalised shrinkage of the brain and results in the death of neurons in specific brain regions. The extent to which the symptoms of HD are caused by neurons malfunctioning or by neuronal cell death is not known, although malfunction is now thought to play a major part in the presentation of disease.
How does the long glutamine tract cause HD? Any proposed mechanism must be able to explain a number of properties of the disease, namely:
Simple experiments have shown that as the number of glutamines increases across the threshold from the unaffected to affected range, the speed with which they change their shape and form aggregates increases dramatically. It is thought that the extra glutamines cause the beginning of huntingtin to take on a new shape and structure that can form aggregates. This misfolded or aggregated protein interacts with itself and with other proteins in ways that are detrimental to neurons.
Many research groups are now trying to understand the very first molecular interactions that go wrong in HD. One of the first events is thought to be that the beginning of huntingtin, containing the glutamine tract, becomes separated from the rest of the protein.
This may be a naturally occurring event, irrespective of how many glutamines are present in the protein. However, when it has a repeat of 36 or more glutamines, this small fragment is more likely to change structure and aggregate. The consequences of this change in structure are being uncovered.
They include: alterations in the levels to which many genes in a cell are switched on, an impairment in ability of the cell to break down proteins that are non-functional or no longer needed and an impairment in the ability of the cell to generate the energy that it needs, among others. Together these could result in neuronal malfunction. Neurons do not exist in isolation but communicate with each other through a complex network. The effects described above could result in altered inputs and outputs which would result in a breakdown in communication and may even result in the death of some cells through for example, over stimulation or under nourishment.
As the early molecular steps in HD become better understood, they become therapeutic targets and we can try to find compounds (drugs) that will interrupt or to some extent redress the impairment caused by the extra glutamines. There are two approaches to doing this. The first is to try to predict which if any drugs that are already available or under development might have the required effect. The second is to generate a screening assay capable of testing up to hundreds of thousands of chemical compounds for the required activity in the hope of developing an entirely new drug. To date, the only event for which it has been possible to set up such large screens is the change in structure and aggregation of huntingtin. There are currently a number of these screens taking place in order to find drugs that will prevent changes in huntingtin structure and/or prevent cell death.
In order to determine whether compounds arising from either of these two approaches might lead to potential drugs for HD, a wide range and variety of disease models are needed. We are fortunate in the HD research field in that long CAG repeats have been inserted into the DNA of yeast, the worm: C. elegans, the fruit fly: Drosophila melanogaster, mammalian cells grown in culture dishes and mice and that all of these organisms can be used to model aspects of the disease. The yeast and cultured cell models can be manipulated very easily and turn over very quickly allowing them to be used to screen tens of thousands of compounds for their ability to, for example, prevent aggregation.
However, any promising drugs that arise from these screens must be able to prevent the malfunction and degeneration of neurons in a whole organism and to alleviate symptoms. The C. elegans and fruit fly models are very useful for the next stage in the screening process, as they each have life cycles of around two weeks and therefore it is still possible to screen several hundred potential drugs and obtain results very quickly. Finally, compounds must be tested in mouse models, which are the most accurate models of HD that can realistically be used for drug screening. As compounds move through this drug development pipeline, the number of drugs that can be tested at each stage decreases considerably and the cost of testing increases dramatically. The most promising drugs to emerge will be taken forward into the clinic. As clinical trials are extremely expensive and very time consuming, it is essential that only the most promising drugs go on to be tested in the clinic and that the assessment of drugs at each stage in this process is as rigorous as possible.
How do we know that these models are going to predict which drugs will work in people affected with HD? At the moment we don't, and in reality we shall only know how good our models are when a successful drug has been found.
Are there any drugs that have been shown to work in a wide range of these models? Yes, a class of drugs known as histone deacetylase (HDAC) inhibitors. These were not found through screening large numbers of compounds, but were tested because they affect the way in which genes are switched on.
The extra long glutamine tract in HD causes the level at which many genes are switched on to be turned down, which is predicted to affect the way in which neurons function and communicate with each other. Although the mechanism by which this happens is not really understood, it was thought that a drug that could turn genes back up again, might have beneficial effects. So far this type of drug has been shown to be beneficial in yeast, mammalian cell, fruit fly and mouse models.
In our lab we have shown that the HDAC inhibitor, SAHA, dramatically improves the motor performance of the R6/2 mouse model of HD. The R6/2 mice are used extensively for drug screening as symptoms can first be detected when they are 5-6 weeks old and a drug screen can be completed by 14 weeks of age. SAHA was administered to the mice from five weeks and had the effect of delaying the progression of the movement disorder by one month, i.e. mice on drug at twelve weeks of age showed the same level of impairment as mice without drug aged 8 weeks. Since this work, Bob Ferrante's group has shown that another HDAC inhibitor: sodium butyrate also shows beneficial effects in the R6/2 mice.
Why is SAHA not being tested in HD clinical trials? SAHA is a new drug that has not yet been approved for use in the clinic. It is being tested in cancer trials in the USA, and a lot of information about its safety will come out of that work. The HDAC inhibitors are a new class of drugs and because they are of interest for the cancer field, there is a lot of research going into developing better versions.
We expect that HDAC inhibitors will be tested in HD clinical trials but it is too soon to say which is the best drug or the best approach to take. Might HDAC inhibitors cure HD? This is unlikely as they are probably only going to target one aspect of the disease. However, they might slow down disease onset and progression and it is feasible that if they fulfil their promise, that they will be used in combination with other drugs that target other aspects of the disease process. There is currently a large and co-ordinated research effort taking place throughout the world to identify drugs that target various stages in the progression of HD. There is every reason to be optimistic that drugs that improve aspects of HD will be identified over the course of the next few years.
Acknowledgement: Huntington's Disease Association (England & Wales) Newsletter Issue 64 March 2004
New York, New York - March 2, 2004 - The age at which Huntington's disease starts is not solely determined by the Huntington's disease gene, as previously believed, but is strongly influenced by genetic and environmental factors, according to new findings from a team led by Columbia University Medical Center researcher and President of the Hereditary Disease Foundation, Dr. Nancy Wexler. All authors of the new study belong to the U.S.-Venezuela Collaborative Research Project, a group of 57 international researchers who have participated in the project.
The dogma-breaking finding suggests there are more ways to attack Huntington's than investigators realized and raises hope that scientists can mimic the protective genetic and environmental factors with drugs that delay the onset of the disease or push the age of onset out of the normal lifespan. The research will be published this week on the Proceedings of the National Academy of Sciences web site (http://www.pnas.org/).
This discovery is due to the extraordinary contribution of more than 18,000 Venezuelans participating in the research and, for the first time, details of this large pedigree have been published and appear in the same paper.
Since 1979, Dr. Wexler's international team of researchers has traveled annually to Lake Maracaibo, Venezuela, to identify families with Huntington's disease (HD) and document their disease. Over these 23 years, they have identified 18,149 individuals spanning 10 generations, 15,409 of whom are living. The Venezuelan families with Huntington's disease comprise 83 independent kindreds (a group of related families stemming from a common ancestor). One kindred comprises 14,761 individuals. This kindred inherited the HD gene from a woman living in a stilt village on the lake in the early 19th century. Though not all of the 15,000 now living will develop Huntington's, all will be affected in some way by the disease as it strikes their parents, children, siblings, aunts and uncles, cousins and other family members.
"The Venezuelan kindreds are unique in that they encompass the world's largest genetically related HD community and have already provided a wealth of genetically and phenotypically informative data," Dr. Wexler, Higgins Professor of Neurology at Columbia University College of Physicians & Surgeons, explains. "The sheer magnitude of the overall kindreds, the size of individual nuclear families - from 1 to 21 children - the interrelationships among the branches, the high level of genetic heterogeneity, the relative immobility among the branches and their extraordinary cooperation has taught us immensely and promises to reveal more in the future." Genetic and clinical data from these Venezuelan kindreds were responsible for localizing the HD gene on chromosome 4 in 1983 - the first such localization using DNA markers when the chromosomal assignment was unknown - and subsequently discovering the defective gene itself in 1993.
"Huntington's has been touted as the least malleable disease, but we're finding there is a huge amount of variation in age of onset and severity of symptoms," Dr. Wexler says. "We hope that our project will find the genes and environmental factors that offer treatments and cures. We do not merely want to make the disease milder but to prevent it from ever appearing or push the disease's onset to 110 years of age and out of a normal lifespan."
Huntington's disease is invariably fatal for people who carry the disease-causing Huntington gene, but the age at which symptoms start appearing varies anywhere between age 2 and age 84.The gene causing Huntington's disease codes for a protein called "huntingtin." This gene carries a stretch of DNA that is repeated over and over again, a string of three base pairs called CAG, which code for the amino acid glutamine. A normal gene will carry from 9 to 34 such repetitions. For unknown reasons, in some people the gene expands to include many more repetitions. A person carrying a gene with 35 to 39 repeats of CAG may or may not become ill with HD. If just one single extra CAG, or glutamine, is added to the gene, the person carrying this abnormal gene will inevitably die a devastating death. Repeats of between 60 to 125 CAGs will produce an age of onset of 20 years or younger. Each child - males and females equally - of a parent with HD has a 50 percent risk of inheriting the disease. The size of the repeat frequently expands as it is passed from parent to child.
The new study analyzed the DNA of 443 people with Huntington's disease for whom the researchers have ages of onset, who live mainly in fishing villages along the coast of Lake Maracaibo, Venezuela.
Until now, most researchers believed that the number of repeats in the disease-causing gene completely controlled the age of onset. But an extraordinary finding of the study is that family members and even people with the exact same repeat sizes have significant variability in their ages of onset, suggesting that modifying factors exist.
When data from all of the 443 Venezuelans are combined, with repeat lengths from 40 to 86 CAGs, the size of the repeat accounts for as much as 72 percent of the variation in age of onset. But the investigators then studied only people with repeat sizes between 40 and 50 CAGs. Fortunately, people with smaller repeat sizes comprise 87 percent of these Venezuelan kindreds and the majority of HD families worldwide. Among this group, the size of the repeat only accounts for 44 percent of the variability in age of onset. What accounts for the rest? Using sophisticated statistical analyses of the Venezuelan kindreds, the group determined that, of the remaining variability in age of onset, 40 percent can be ascribed to gene(s) other than the HD gene. This figure is similar to other multifactorial diseases of interest. Fully 60 percent of the variability in age of onset is due to environmental factors, and of this, approximately 20 percent is due to shared environments and 40 percent is due to non-shared environments.
The Venezuelan families also averaged a significantly earlier age of onset, 34 years, compared with 37 in the United States and 40 in Canada. Whether this earlier age of onset is due to shared genetic or environmental factors is under study.
Members of the Venezuela Project research team are now analyzing the same DNA samples for other genes that may influence the disease's age of onset and are setting up studies to find environmental factors.
"The Venezuelan families have given us many gifts," Dr. Wexler says. "In 1983 and 1993, they helped us find the Huntington's gene and understand its mistake. Now they are critical players in our search for the cure. It's important that the world understand how much they've given and it would be fitting if they could be the first to reap the benefits of all future therapies."
Acknowledgement: Columbia University Medical Center, New York.
Reprinted: "Gateway" AHDA (NSW) Inc.
The article below appeared in the UK Daily Mail on June 29th as a two page article on the centre pages, so a very high profile position, in the "Good Health" section. The headline was "My Race Against Time".
Last week, Sarah Winckless received the news for which she had been desperately hoping. She has been selected to row for Great Britain in the 2004 Olympic Games in Athens. To the unsuspecting, Sarah is a beautiful and healthy young woman with an athletic build. She has a Cambridge education and a remarkable passion for life. But Sarah has also tested positive for Huntington's disease - a disorder that could attack her central nervous system at any time, gradually destroying co-ordination, speech and movement. Here, 31-year old Sarah tells CATHY WOOD her story:
"Every sports enthusiast remembers the day that Sir Steven Redgrave won his 5th Olympic rowing gold medal. Especially me. I was there, on the Sydney rowing lake where the race was taking place, sitting next to my mum Valerie, having just finished 9th in the double scull rowing in my very first Olympic Games.
The toll of travelling halfway around the world just to be there to watch me was beginning to tell. Mum's speech had deteriorated, her walking was unsteady and she was tired from the enormous effort of getting around as independently as she could.
And yet, as she waved her Great Britain flag excitedly, I knew this, rather than the race unfolding in front of us, was a moment to savour.
The reason is that Mum has Huntington's - a disorder of the central nervous system which gradually destroys coordination, control, speech and movement. My Olympic effort was nothing compared to hers. I also knew the disease had already left its mark on me. Huntington's is hereditary, caused by a faulty gene being passed from generation to generation - which means that every child of a sufferer has a 50% probability of having the faulty gene. Looking back, it is clear that my grandfather also had Huntington's, though when he died there wasn't a test to identify the disease.
In 1996, when I was 23, I took a test to find out if I have the faulty gene - and I too am positive. Anyone who inherits the gene will, at some stage, develop the disease, although no-one knows when.
It was 10 years or more before that scene in Sydney 2000 when Mum's symptoms first became apparent. My parents divorced when I was 6 and Charles, my brother, was 7. Mum married Mike and together they had two more children, John, now 22, and Imogen (known as Imy) who is 19.
Years later, our neighbors in Kingston-upon-Thames, Surrey, would tell of the things they noticed that didn't quite make sense, such as Mum's forgetfulness or her tendency towards involuntary facial twitching. She also developed an obsession for shopping, buying Imy new outfits almost every day. Such obsessive compulsions, we later learned, are common among Huntington's sufferers.
Of course, Imy thought it was fabulous. The rest of us knew something wasn't quite right, but we didn't know what. Any suggestion to visit the doctor would be met with defensiveness. Mum was fiercely protective of her independence.
It is hard to know how much Mum realised what was wrong with her, but I remember when I was young she used to say 'I don't have Huntington's', which we thought strange because we didn't know what the name meant. Coincidentally, Mum worked as lab assistant for the scientist who identified the Huntington's gene, so she must have had a great knowledge of the condition before getting the test.
By my early teens, I was caring a lot for my siblings - but even then I put it down to my mother's lack of maternal instinct rather than anything more sinister. Besides, Mum's idiosyncrasies always had a funny side to them.
I moved to Millfield in Somerset for my last two school years, and one day Mum rang up and said 'What's the answer to question 42?' to which I said 'Mum, what's the question?"
On one occasion when a doctor suggested some tests, Mum's response was simple yet defiant. She changed surgeries. She seemed happy, so we let her get on with things. But slowly the situation did get worse. She made no concession to the illness, and one of us would get a phone call from Kingston Casualty Department saying Mum had fallen down some steps in town and cracked her head open.
These instances became more and more frequent, until eventually she wasn't able to get out. By then I'd moved out, so it was left to John and Imy to pick up the pieces.
Then one day, when I visited, she hugged me and told me she had been diagnosed with Huntington's Disease. A specialist had persuaded her to take a genetic blood test. It was the first time her illness had been given a name and, in a way, just having a label was a relief. It meant I could read up about it, understand it and, having read science at Cambridge, rationalise it.
Whilst realising what was ahead for Mum, I also understood that, due to the hereditary nature of Huntington's, my two brothers, my sister and I were each at risk.
Mum said straightaway that she wasn't going to let it 'get her', and it hasn't. She does as much as she can for as long as she can, and always has. She is now 61 and her condition is deteriorating, but she still lives with her husband and my sister at home.
At first, convinced the mercury in her mouth had poisoned her, Mum had all her metal fillings replaced with white ones and for a while she followed a strict homeopathic diet. At the moment she takes no drugs at all. There are some conventional drugs available, and in some cases they can help to mask the symptoms but Mum wasn't interested in taking that route.
I think her positive approach has helped us learn to live with Huntington's rather than fear it. Mum does find it difficult to get food down and I find it harder to understand her speech, but the thing I admire most is her refusal to give up. She's only started using a wheelchair recently, and even that she fought.
At 61 she's quite disabled, but when my father Bob re-married, he held a party in Vienna and Mum went along. It was me who spent most of the evening in the wheelchair as she partied the night away.
We're at a stage now where we need carers to help look after her, but there's still recognition and enthusiasm for her visitors. She can't be on her own any more, but you can come into a room and her face will still light up.
She often now greets me with 'Sarah Rowing'. She likes to touch - to feel she is communicating with you in a physical way even if she can't speak. I think her attitude helped me make my decision to have the test. As a scientist, I believe knowledge is power, and, as I already knew I was 'at risk', I couldn't see how taking the test could make me any worse off.
I'm also one of those people who need to face things front on, to know what I am dealing with, so I went to Addenbrooke's in Cambridge, where they have a centre dedicated to neurological conditions.
First, the doctors measure how your brain is working by asking questions like how many animals can you name beginning with A. It's really to see how your brain files things and what your recall is like. In years to come, they can look back and see if there has been any deterioration. The real test involves taking blood to see if you have the faulty gene. When I was told the results, I was very calm. It wasn't until I'd had a chance to think it through about a week later, that, in floods of tears, I phoned the counsellor who had dealt with me.
After that, I just threw myself into things - doing my finals, buying a house and rowing. Only then did I allow myself to think what it means to me, my future relationships, and having kids.
I'm 30 now, unmarried and haven't had children - I'm training for the Olympics and I have other priorities. Since 1996, my life has gone in four-year cycles. Now Athens is only 9 weeks away and I can't think about my future beyond that, although I can't pretend Huntington's doesn't sometimes pop into my head.
It is not so much passing on the gene that worries me, because I believe that in 20 years time science will have found a treatment. But I am worried about being unable to care for my children. Neither John nor Imy can remember a time when Mum was well - and the later I leave having children, the greater the risk that my children's experience will be the same.
With Huntington's, there's no guarantee about age of onset. I know I'm fine now because I'm performing at this level - the very nature of Huntington's is that it affects co-ordination, so I know it hasn't started.
I can't fight it, so there's no point in fearing it. If it happens, it happens. I'm going to live my life and get on with it. The more positive I can be the better. That's what Mum has shown. Some people don't last 10 years, and while every person is different, I really believe part of Mum's resilience to the disease is her positive attitude and the fact that she keeps going.
For now, the only thing that matters is devoting my energies to fulfilling my potential on the water in Athens. Mum, although confined to a wheelchair, is coming too. She's incredibly excited, even though she finds it hard to express herself. And if I do win a medal, she'll be the first person I give it to. She's done her bit. Now I've got to do mine."
Copyright Daily Mail (Tuesday 29th June 2004), UK.
The following Community Groups have donated to the Association in recent times:
Goomeri Lions Club - This group has once again forwarded an annual donation to the Association. Thank you to the Group for their recent donation of $500.
Palm Beach Currumbin Lions Club member, Ray Eaton and his daughter Ellie participated in the Gold Coast Marathon event and also the Bridge to Brisbane Run. One of our Committee members, Allan Fox joined Ray and Ellie in the Bridge to Brisbane Run. To date $1500 in sponsorship has been received at the HD Office and there is still more to come in.
Ray was successful in gathering community support in a very short period of time and we congratulate him for his fundraising efforts on our behalf.
Community Assistance - We have received, and gratefully acknowledge major financial assistance from the following donors:
The Golf Day at Karana Downs raised $1600.00 - thanks to our volunteers, Gladys and Tina who assisted with the BBQ and also to the golfers who have been turning up for many years to enjoy a game of golf which in turn has provided good financial gain for the Association. Particularly, thank you to Don Gray for organising the event and making it such a success.
Open Garden at home of Beryl & Jim Batchelor.
Upcoming Fundraising Events:
Sausage Sizzle at Bunnings, Browns Plains - Sunday 10th October
Melbourne Cup Calcutta - 1st November - We need your support. In the past the Calcutta has been a great money raiser for the Association and is also a fun filled evening. Contact Barb at the office if you would like more information or if you are able to attend.
Cookie Drive - Orders in by the 7th November - Order forms are enclosed with the Newsletter for our local readers. The cookies make an ideal Christmas gift and are reasonably priced.
If you wish to purchase Christmas Cards through our Telemarketing Appeal, please ring Helen at the office to place your order. The cards come in packs of 20 (have the Association's logo on the back of the card) and cost $33.00 per pack.
Copyright © 2001-2019 Australian Huntington's Disease Association (Qld) Inc. All rights reserved.