Newsletter Sep 2003
In This Issue
The Annual General Meeting of the Association takes place on the 23rd September. I would like to inform readers that I have decided to stand down as President of the Association this year for a number of reasons.
In 1993 Alison and I attended our first Family Support Meeting at Friendship House in Fortitude Valley. This was a very aptly named venue and the HD Association has become a very important part of our lives in providing support and friendship following Alison's positive result. This friendship and support over the last ten years has greatly helped my family and like all HD families these friendships will last forever.
I would like to pay a special tribute to Cliff Farmer for his mentoring and wise counsel, Ray and the Committee for the support and contribution to the success of the Association and to Gwen, Barb and all of the staff in making my term as President a very enjoyable experience. Queensland is a large State and we have families all over this great country. It has been very pleasing to see the expansion of our services to the regional areas and the success of the local Support Groups. The Association has also built up a successful network with the Professionals working with HD and this has become most beneficial to our families.
Although I am stepping down as President my involvement with the Association will not be stopping and I would like to thank all of you for your friendship and support.
The Association is in good health and I wish President elect Ray and his Committee and staff a very bright future. Bring on the Cure.
Annual General Meeting - Enclosed with the Newsletter is an Invitation to the Annual General Meeting. A nomination form is also included to enable you to nominate yourself or other members who are willing to serve on the Management Committee for the year 2003-2004. If you are interested or need further information, please contact the office.
Dr Judith Murray, Director, Loss and Grief Unit, the University of Queensland has accepted our invitation to be guest speaker.
Judith Murray is an excellent speaker and has written several books addressing personal loss which she has experienced in her own life. She brings to her audience the unique opportunity to share with her our reaction to loss and grief within our families. This will not be a "heavy" presentation as Judith is a very positive person and her interaction with her audience reflects that.
I encourage members to come to the AGM to learn first hand what your Association has achieved during the past 12 months, and take the opportunity to hear Dr. Murray speak and to chat with her over supper.
Welfare - Kellie Chenoweth, who has been a member of the Welfare team since April last year, recently tendered her resignation which took effect on the 16th July, 2003. Kellie's contribution to the Welfare Service and the qualities she brought to her role as Welfare Officer were of a very high standard and it was with regret that we accepted her resignation.
We will miss Kellie and extend to her our sincere thanks for her contribution and wish her well in her future endeavours.
The 2 full time Welfare staff members are covering the Welfare area for the time being. This situation will be reviewed toward the end of this year. The reduction in the salaries area will give the Association an opportunity to increase its financial base in the short term, and perhaps look at alternative initiatives in the future.
Membership - Thank you to members who have renewed their Membership and the many kind donations accompanying your fees. If you have not already done so, would you please forward your fees to the HD Office at your earliest convenience.
Gerry Doyle, President
It is hard to believe that it is already a few months since I said farewell to clients and friends at the HD Association. I was able to say farewell to many of you either in person or on the phone, however for those of you who I was unable to say goodbye to personally, I'm sure this note will convey my thoughts to you. During the past year or so I have been very fortunate to meet many wonderful clients, families and professionals. In particular I would like to thank the clients and families with whom I have been involved for your spirit and strength and for including me in your lives.
I chose to move on from my position at the HD Association to further my career. I was fortunate to be offered a contract position as a Genetic Counsellor in Brisbane until the end of this year. I know that all that I have learnt during my time as a Welfare Officer will be most beneficial in future dealing with clients in my new role. Naturally I wish all of you the very best for the future. Kind regards
As you will be aware we have a variety of different methods of supporting our Huntington's population.
We visit those in nursing homes on a regular basis, depending on needs, and further support these people by providing in-service education sessions for staff.
The Welfare staff also has a home visiting service for clients living in their own homes to provide support to both the client and their carers. These visits may take the form of sharing experiences over a cup of tea, assisting with filling in forms to apply for a carers allowance or helping the family plan for long term care when this need arises.
The Day Respite group in Annerley engages in a variety of fun and stimulating activities under the able guidance of Iris and Diane and a group of volunteers. In March 2004 the Day Respite Program will celebrate its 10th anniversary.
Our Gold Coast population has a family support meeting about every six weeks, which involves a chat over a cup of tea, and a time to "let down your hair" and share experiences which may help others.
Two new initiatives which we have instigated this year are a Carers Support Group and a Younger Men's Day Out.
Carers Support Group
The Carers Support Group commenced late last year with a very successful full day meeting at the HD Centre. Since this meeting we have had two picnic lunches together. These lunches allow carers to get together with other women in a similar situation and share as much or as little as they choose. It is a time out for people who are involved in the sometimes difficult task of maintaining their partner at home, or visiting them in a care facility. We know you do it for love, but we also recognize it is hard work and you deserve a little time for recognition of your needs.
If male carers out there are interested in a similar group, could you contact the office as we would be pleased to try and arrange a similar meeting for you.
Younger Men's Day Out
Two issues which became obvious to me while working with our clients were that our younger more physically able men need to be participating more in community activities, and that these men need greater contact with other young men.
With these issues in mind we commenced our Younger Men's Group. The first outing was to the Maritime Museum at Southbank, and was greatly enjoyed by the participants. We held our second outing in late August, with a visit to the Railway Museum at Ipswich. It was agreed by all that one visit is not enough, and a further visit will be needed in the future to view all that this facility has to offer.
This group is kept deliberately small to allow for integration of new clients into the group, and to ensure that each participant benefits from their time at the activity.
For these groups to continue and be successful we need you to tell us if they are meeting your needs, and if not, what we can do to make them more successful. It is always difficult to find a date which suits everyone, but even if you can participate in only one or two of these activities a year, we welcome you.
There is a stipulation for the Men's Group at present that you are mobile and able to get yourself to a central meeting place. We have been fortunate this month to receive a donation from the Rotary Club of Acacia Ridge which allows us to subsidise the cost of this group, and keep costs to a minimum.
Words of Wisdom
Hope is the thing
Bundaberg Support Group
In the July Newsletter we informed readers that the Bundaberg Support Group was to be disbanded. On the 22nd July, 2003 a Dinner was held at West's Sports Club to celebrate and to recognize the contribution made by families, friends and service groups in the Bundaberg area. Gwen Pratten and Cliff and Jenny Farmer travelled from Brisbane to join with the Group. We would like to share with readers the presentation by Cliff on behalf of the Association.
Let's look back on the year 2002-2003. The year has been busy for our key supporters. With their dedication the Group has given a family support service to families and clients in the Townsville area. I would like to mention a few of the activities -
Welfare Activities and Visitation
Mt. Stuart Lions Club organized a visit to Billabong Sanctuary on Saturday the 31st May. A bus picked up clients and families at the Good Shepherd Car Park and returned them after their outing at the Sanctuary. Everyone enjoyed themselves. The Lions Club also supplied afternoon tea which was appreciated by all.
In June this year the Townsville Support Group donated a corner cupboard to the Good Shepherd Home in memory of one of their clients, Barbara Klaassen.
A Tilt bed owned by the Townsville Support Group presently at the Good Shepherd Home has undergone repairs and is back in service.
During the year we have received Welfare staff visitations from Brisbane - many clients and families in the Townsville area welcomed their visit.
The Townsville Support Group is very grateful for the community support it receives. Without this support our work would be very difficult. It is with great pleasure we thank the following -
Lion Neil DeWaele
Townsville Support Group Care Management Committee
Tom & Jean Paterson - Welfare Organisers
I wish the group all the very best for the coming year. Kind regards
My name is Peter and I care for my wife. I would like to share a few things that are thought to be beneficial for HD. I feel it is better to be proactive, than to sit and do nothing.
My wife had a comparatively late onset, with symptoms first noticed in her early fifties and on being tested was found to have a CAG of 44, and even now, 5 years later, her symptoms are still only mild. We attribute the late onset and mild symptoms to living a fairly healthy lifestyle. By fairly healthy I mean eating a well balanced diet, regular exercise, and living a mostly stress free life. NOT being a health freak.
So firstly a well balanced diet, with lots of fruit and vegetables, and moderate exercise. Exercise produces BDNF (Brain Derived Neurotrophic Factor), which is essential for maintaining the health of brain cells, and is depleted by HD, so do as much exercise as possible.
A lot of you may have read about the LAX-101 trials, which have been conducted over the last 2 years. LAX-101 is a fatty acid called Ethyl-EPA, and is thought to keep the cell membranes fluid. Although LAX 101 is not yet available, EPA can be obtained from fish oil.
Also Anthrocyanins are thought to be beneficial. Anthrocyanins are the chemicals that produce the colouring in fruit and vegetables, and are a potent antioxidant. The best source of Anthrocyanins is blueberries (although other fruits do contain Anthrocyanins in varying amounts), and the recommended dose is one cup of blueberries a day, or one tablespoon of pure blueberry juice. Unfortunately blueberries are not readily available, but I have made enquiries to a company in Victoria and I am told that 500 ml bottles of pure blueberry juice will soon be available in Brisbane. One 500 ml bottle will be approximately one month's supply at one tablespoon (15 mls) a day.
Another supplement that is thought to be of benefit is Creatine. Creatine is a naturally occurring substance which is produced by the body, but is taken as a supplement by sportsmen and sportswomen worldwide. It gives energy and keeps muscle bulk. It can be purchased in health food shops, in powder or liquid form. The recommended dose is about 5 grams a day.
My wife also does crosswords, and plays me at scrabble. Also I keep her interested in things, and generally try to live a normal life, with a positive attitude, and I am convinced that this also helps.
Gene therapy may switch off Huntington's
Using gene therapy to switch off genes instead of adding new ones could slow down or prevent the fatal brain disorder Huntington's disease. The method, which exploits a mechanism called RNA interference, might also help treat a wide range of other inherited diseases.
"When I first heard of this work, it just took my breath away," says Nancy Wexler of Columbia University Medical School, who is President of the Hereditary Disease Foundation in New York. Though the gene-silencing technique has yet to be tried in people, she says it is the most promising potential treatment so far for Huntington's.
It involves a natural defence mechanism against viruses, in which short pieces of double-stranded RNA (short interfering RNAs, or siRNAs) trigger the degradation of any other RNA in the cell with a matching sequence. If an siRNA is chosen to match the RNA copied from a particular gene, it will stop production of the protein the gene codes for.
Huntington's is caused by mutations in the huntingtin gene. The resulting defective protein forms large clumps that gradually kill off part of the brain. Studies in mice have shown that reducing production of the defective protein can slow down the disease, and Beverly Davidson at the University of Iowa thinks the same could be true in people.
"If you reduce levels of the toxic protein even modestly, we believe you'll have a significant impact," she says. Late in 2002, her team showed that it is possible to reduce the amount of a similar protein by up to 90 per cent, by adding DNA that codes for an siRNA to rodent cells engineered to produce the protein.
The team was the first to use gene therapy to deliver such a payload, and they have now done the same with the huntingtin protein itself. Completely silencing the gene in people with the disease is not an option because brain cells may not survive without the protein. But we have two copies of most genes, and usually only one is defective in people with Huntington's.
Working on a similar disease using human cells, Davidson and her colleague Henry Paulson have now shown you can make an siRNA that recognizes and silences only the mutant gene.
They could not target the disease-causing mutation itself because, as in Huntington's, the mutation merely makes a long stretch of repeats even longer, without actually altering any particular short sequence. But they did find another difference, a change in a single DNA letter that appears in 70 per cent of defective genes.
Adding an siRNA that matches this telltale sequence reduced expression of the defective protein by over 80 per cent, while production of the normal protein was hardly affected, Davidson told a gene therapy conference in Banff, Canada, last week. The hunt is now on for similar mutations in the huntingtin gene itself. One promising candidate has been discovered in about 40 per cent of disease-causing genes.
The same approach could probably be used for many other genetic disorders. Even if both copies of a gene are faulty, a healthy copy of the gene could be added alongside an siRNA that turns off both defective copies.
Bob Holmes, Banff
This brief account of Woody Guthrie is instructive to clinical geneticists. It tells the story of one famous man's understanding of, and struggle with, Huntington's disease.
Born on 14 July 1912 in Okemah, Oklahoma, USA, to Charley and Nora Guthrie, Woodrow Wilson 'Woody' Guthrie left an enduring legacy as one of America's most accomplished singer-songwriters. Despite the family suffering some hardship, his childhood was a happy one. Woody did not attain much formal schooling, but he had a thirst for knowledge and was very well read. It was evident from an early age that he had a natural aptitude for music, and Woody's ability to write songs and lyrics was legendary.
He married the teenage sister of a good friend in 1933 at the age of 21 and they would have three children together. Shortly after they were married, the infamous dust storms of the 'dirty 30s' hit Oklahoma and other parts of the USA. This prompted Woody to move his family to California, and on leaving Oklahoma, he penned one of his most familiar songs, 'So Long It's Been Good to Know You'. Woody's eyes were opened by his experiences in California. He encountered the same migrant workers who were immortalized in the novels of John Steinbeck, and he wrote hundreds of songs detailing their experiences and hardships. This was the beginning of a lifelong commitment to left-wing political causes that would eventually lead to Guthrie and many of his contemporaries being labelled as communists. At this time, Woody also began to develop some notoriety with his own Los Angeles radio show.
Guthrie eventually settled in New York where he surrounded himself with a group of musicians including Pete Seeger, Leadbelly and other significant figures in the history of American folk music. It was during this period that Guthrie wrote the first draft of a scathing composition that targeted Irving Berlin's 'God Bless America'. Originally entitled 'God Blessed America', this composition subsequently became 'This Land is Your Land'. Now recognized as a patriotic American anthem, its origins were quite the opposite. While he gained a modicum of fame in New York City, Woody continued to find it difficult to cope with any degree of fame or fortune. As a result, he often uprooted his family as he moved from coast to coast. Eventually, his wife left him to try and raise her family in a stable environment. Woody began a relationship with a dancer called Marjorie Mazia. Marjorie became pregnant and the couple married.
As the United States entered World War II, it was increasingly difficult for artists with communist sympathies to retain a pacifist stance, particularly as the Soviets and the Americans had joined forces against fascism. In an attempt to avoid conscription into the military, Guthrie served in the merchant marine. Remarkably, his ship was torpedoed on all three of his sorties, but he managed to survive each attack. He was eventually drafted into the army on victory in Europe day, but never saw combat action. However, the war period was not completely devoid of accomplishments for Guthrie. He spent much time with his new young daughter Cathy and wrote a large number of children's songs, the most memorable of these being 'Take Me for a Ride in the Car-Car'. This period also saw the publication of his remarkable autobiography, Bound for Glory, which detailed (and perhaps exaggerated) his extraordinary upbringing and life experiences. It was well received by much of the national press.
Tragedy struck Woody's family after the war. A house fire killed his daughter Cathy. This was not the first time that such a disaster had affected Woody's family. Woody and Marjorie had a number of other children together, including Arlo Guthrie, who became a respected folk singer in his own right. Much of the above information comes from the Biography Woody Guthrie: A life by Joe Klein (1). This book begins with the story of Guthrie's maternal grandfather, George Sherman, who fell off his horse and drowned in shallow waters as a relatively young man. The death was explained as another in a long line of tragedies in the Sherman family.
Misfortune would continue to befall the family. In May 1919, during an argument with her mother, Woody's sister Clara set herself on fire. While her intent was only to scare her mother, she died of these injuries days later. The townsfolk blamed Woody's mother, Nora Guthrie, for her daughter's death. In fact, it was recalled that the Guthrie's previous home had also burned down 10 years earlier. Much of the conversation in town turned to Nora's increasingly odd conduct. Woody would later describe his mother's behaviour during that period:
'She could be alright for awhile, and treat us kids as good as any mother, and all at once it would start in something bad and awful something would start coming over her, and it would come by slow degrees. Her face would twitch and her lips would snarl and her teeth would show. Spit would run out of her mouth and she would start out in a low grumbling voice and gradually get to talking as loud as her throat could stand it; and her arms would draw up at her sides, then behind her back and swing in all kinds of curves. Her stomach would draw up into a hard ball, and she would double over into a terrible-looking hunch and turn into another person, it looked like, standing right there before Joy and me.' (1)
She deteriorated over the years, but enjoyed spending time going to movies with young Woody. Eventually, it became harder for Nora to care for her children and the younger children moved in with relatives. In 1927, Nora walked over to her husband Charley, who was asleep on the sofa, and set him on fire with a kerosene lamp. Charley Guthrie survived, but Nora Guthrie was admitted to the state mental facility in Norman, Oklahoma. Woody visited his mother in hospital, where he was informed by doctors that she was suffering from Huntington's chorea. Nora Guthrie died of Huntington's disease (HD) in 1929, when she would have been 41 years old. Woody briefly discussed his mother's death with his future brother in law, Matt Jennings, at that time. He stated that the disease seemed to be passed from father to daughter and mother to son, and then added, 'There's no way I'm gonna get that disease.' (1)
While Woody had always been an eccentric, playful character, it eventually became clear that his own behaviour was increasingly unusual. As early as the early 1940s, he was clearly erratic in formal situations. This was often ascribed to his increasing use of alcohol. While aboard one of the merchant marine voyages during World War II, he confided to his friends, 'I'm pretty sure I've got the same things my mother had', (1). When asked how he knew, his reply was, 'Dunno, just feel queer sometimes' (1).
Crowds became increasingly uncomfortable at his performances as he stumbled on stage or botched his lines. Because playful stumbling had always been a part of his act, this was usually easily covered up. However, things were deteriorating at home as well. Woody became increasingly angry and his actions were increasingly bizarre. In fact, he was eventually sentenced to jail in 1949 for obscene letter writing. Things got no better after his discharge from prison, and he was found wandering aimlessly at times. One night, he was arrested for loitering and was assumed to be under the influence of alcohol given that there was a 'boozy, light-headed quality to him; his walk had become a lurch, and his speech often was decidedly slurred. What's more he looked like a bum' (1).
As his behaviour became increasingly terrifying to his wife, Marjorie eventually enlisted the help of friends to check Woody into Kings County Hospital. He was not specifically diagnosed, but was placed in a 3-week detoxification programme.
In rather rapid succession, he was in and out of a variety of facilities, including Bellevue Hospital (where he was diagnosed with schizophrenia) and Kings County Hospital. Marjorie was increasingly perplexed with her husband's situation, and eventually, he was assessed at the Brooklyn State Hospital. The results of this assessment are described in exceptional detail in Joe Klein's biography. The conclusions of the examining physician, Dr Marlowe, are fascinating:
'This is one of those cases which stubbornly defies classification. In it, it has elements of schizophrenia, psychopathy and a psychoneurotic anxiety state, not to mention the mental and personality changes occurring in Huntington's chorea, at this patient's age. As such, examiner chooses to defer diagnosis until such time as further observation has made the picture clearer.' (1)
Woody's curiosity intensified, and writing on 12 September, he stated that:
'Face seems to twist out of shape. Can't control it. Arms dangle all around. Can't control them. Wrists feel weak and my hands wave around in odd ways. I can't stop. All these docs keep asking me about how my mother died of Huntington's chorea. They never tell me if its pass-onable or not. So I never know. I believe every doctor ought to speak plainer so us patients can begin to try to guess partly what's wrong with us. If it's not alcohol which has me, I wonder what it's going to be', (1).
Three days later, he told a friend how his mother died with that 'old three-way disease of chorea consisting of St. Vitus dance, epilepsy and mild insanity'. He was 'not of the opinion that chorea can be passed on to any child. 'I was born before mama took her chorea anyhow' (1). The next day he reassured himself that 'I've read that chorea's not transmittable from parent to child' (1). On 21 September 1952, it was reportedly disclosed to Woody Guthrie that he was affected with Huntington's chorea. The next day, he requested a discharge to help care for his family. He left stating:
'I am already tracking down all the library books, pamphlets, articles, essays, speeches, lectures on that peculiar mixture of mental diseases called by the name of Huntington's Chorea. I want to do some writing of my own on that disease, chorea.' (1)
However, it was clear that Woody could not continue to care for his family. He left Marjorie and briefly married another young woman, Anneke van Kirk, with whom he had another child. Woody returned to New York City with Anneke and it was apparent to Marjorie that Woody was deteriorating. Remarkably, Marjorie helped look after this family as well. After further troubles, Woody checked himself back into the Brooklyn State Hospital on 16 September 1954. By December of that year, he finally acknowledged to his father, 'I've got the 1st early signs and symptoms of a dizzy disease called Huntington's Chorea, same disease Mama had which lets me stay dizzy in my head everyday without paying my barman one penny' (1).
Around that time, he wrote a poem that should serve as an inspiration to all involved in HD research:
Eventually, Anneke left him and Marjorie moved back in to care for Woody, despite that fact that she had remarried.
On 17 March 1956, a benefit for Woody's family was held at Pythian Hall, New York. This concert was an overwhelming success and reunited many of Woody's old contemporaries. Many say this was the beginning of the elevation of Woody Guthrie to icon status. The concert ended with a resounding version of 'This Land is Your Land'. By now, Woody Guthrie was a shadow of his former self, but folk music was becoming a phenomenon across the United States and Guthrie was beginning to be recognized as a genius. One young musician who idolized Guthrie persevered to meet him while he was hospitalized in 1961. This young man's name was Robert Zimmerman, who would later be known as Bob Dylan. After several more years of decline, Woody Guthrie died on 3 October 1967. Despite only a moderate level of success during his lifetime, he is now widely recognized as one of America's great songwriters.
His second wife, Marjorie, founded the Committee to Combat Huntington's Disease. Through this association, Woody Guthrie may yet contribute to the science of medicine's quest to help others with HD.
To pay homage to Woody Guthrie, the US Postal Service issued a stamp in his honour on 6 June 1998 as part of a series of stamps honouring 'Folk Musicians' (Fig. 1). It was a fitting tribute that some might have found ironic given Guthrie's history of anti-government songwriting.
George Huntington first described the disease that would subsequently bear his name in 1872 when he was only 21 years old and one year removed from medical school (2,3). In his paper entitled 'On Chorea', which he delivered to the Meigs and Mason Academy of Medicine at Middleport, Ohio, he commented on the presentation of a previously undescribed condition which he had first encountered at 8 years of age while on rounds with his physician father.
Huntington's description of what we now know as HD was so complete that Osier himself marvelled at the succinct description 20 years later. However, George Huntington was first and foremost a complete family physician, and he did not pursue further research into HD or other matters. In fact, his presentation 'On Chorea' ended with the conclusion that this disorder was probably no more than a 'medical curiosity'. It would appear that HD was indeed held as little more than a medical curiosity in the decades which followed. Even 80 years later and only miles from where Huntington made the rounds with his father, Woody Guthrie was hospitalized with classic symptoms of HD and a positive family history of the condition, but the diagnosis was not apparent to the admitting doctors. However, HD has certainly become much more than a medical curiosity over the past 50 years. It is an autosomal dominant disorder caused by CAG expansions of the gene HD that encodes the protein huntingtin (4,5).
The disorder is characterized by progressive motor disability involving both voluntary and involuntary movements, and mental disturbances, including changes in cognition and personality.
In many different ways, HD has become something of a paradigm in medical genetics research. Huntington disease is now one of many neurological conditions known to be associated with CAG expansions and polyglutamine tract expansions. Most importantly, the work on presymptomatic testing in HD has led to a significantly enhanced knowledge of how to work with families at risk of such an overwhelming and as-yet-untreatable genetic disorder. In addition, the expansion of services and information for families (including information on the Internet) has empowered many to take more control of their futures. While we do not yet have the cure Woody Guthrie yearned for, the information that he cried out for is increasingly available.
(Clinical Genetics Volume 61 Issue 4 Page 263 - April 2002)
Reprinted: "Huntington's News", The Quarterly Newsletter of the Huntington's Disease Associations of New Zealand, Issn 1174 9229 Issue 81 June 2003
The following fundraising events are scheduled for the remainder of the year. If you are able to participate or assist with any of these fundraisers, please contact Barb at the office:
Cookie Drive - Forms will be available in October and orders will be available for collection in early December.
Community Assistance - We have received, and gratefully acknowledge major financial assistance from the following donors:
The Acacia Ridge Rotary Club has given their support to 2 projects recently introduced by the Association and forwarded a cheque for $1415.00 to help with costs. These projects are:
Purchase of Intellikeys Keyboard - Cost $839.00 - The keyboard would be housed at the HD Centre in Annerley and will be available to clients. It is anticipated that we trial one keyboard initially, and if it is found to be beneficial to our clients, consideration would be given to purchasing an extra 2 or 3 (as funds permit), and these could be loaned to clients.
Men's Social Group - Cost for 12 months $576.00 - Details of this Group are outlined in Jan's article "Support for People with HD" in this Newsletter.
Thank you once again to members of the Rotary Club for providing financial support to these 2 projects.
October 21 Management Committee Meeting - 6 pm at HD Centre, Annerley
November 1-8 HD Awareness Week
December Rotary Christmas Hamper Raffle