Newsletter February 2006
In this Issue
Welcome to a New Year. I hope that everyone had an enjoyable Christmas break and that 2006 will be a wonderful year.
As you know, we have been advertising for a new Welfare Officer to replace Jeff Taylor who left us in December and I am happy to advise you that Helen Fox is commencing duties on the 13th March. We welcome Helen to the Welfare team.
We have another busy year before us with our Huntington's Disease Awareness Day in March as our first major activity. We look forward to repeating the support received from people all around Queensland which made it so successful last year.
Our Welfare, Day Respite and Administration staff appreciates the tremendous assistance provided by volunteers. Without you we would be struggling to provide support to families throughout Queensland.
Ray Bellert, President
Like many community based organisations, the Huntington's Disease Association in Queensland began with a few dedicated people who saw a need to support people affected by Huntington's and their families.
Since its humble beginnings in 1975, the Associaton has continued to develop into the small, friendly and professional service it is today. Its primary focus remains the support of individuals and families through information, education, referral, respite and emotional support.
We are fortunate to still have the involvement of many of those who helped get the Association off the ground. Their knowledge and experience has enabled the Association to continue its important work.
Most small organisations will reach a point in time where their professionalism and roles have expanded, but the funding and internal structures continue to remain the same. The Association has in many ways reached this point. The staff had identified that it is difficult to move forward with respect to objectively evaluating what we do, exploring new ways to provide services, teasing out relevant funding possiblilities and having an impact on some of the bigger issues affecting people's lives like the need for high care facilities that can accommodate younger people.
In addition, the Association needs to plan ahead to ensure that when key personnel leave, we can continue without having a negative impact on the quality of our service.
The Management Committee has decided to employ the assistance of a professional consulting service to support our endeavours to strategically plan for the future. This is due to commence soon and we will keep you updated on our progress.
Drivers will be legally required to advise Queensland Transport when they develop a permanent or long-term medical condition that may affect their ability to drive from March 1. Those who fail to report a condition as soon as it develops could face a maximum $4500 penalty or be disqualified from driving for a period.
Queensland Transport will consult the driver's doctor to decide whether the licence should be suspended, cancelled or amended with special conditions.
More information at https://www.tmr.qld.gov.au/licensing
With the New Year comes new challenges and one of our proprieties was to employ a Welfare Officer for 3 days per week. We feel we have been very successful and Helen Fox will join our team here at Annerley on the 13th March. Helen is an Occupational Therapist and has a wealth of experience in the Community and Mental Health areas. We are all looking forward to Helen working with us and together we will attempt to support people whose lives are affected by HD. Helen will introduce herself to you all in our next Newsletter.
I would like to acknowledge the financial support we continue to receive from the Townsville Support Group. This small group of people has been working for many years to support local families and in this way they contribute to the costs of a Welfare Officer visiting the Townsville district twice yearly. The social program on offer is also available due to the fundraising efforts of the willing workers. Raising money and awareness of this often misunderstood condition is greatly appreciated. Socialisation and stimulation are two very important factors in the lives of people experiencing HD symptoms and their carers.
The first HD Family Support Group meeting of families in the Toowoomba area was held in December, 2005. We met for a Christmas lunch at the City Golf Club. The function was very well attended and I trust enjoyed by all involved. I hope this will be an ongoing activity, providing both social and emotional support.
I would like to pay tribute to the work of Dorothy Tortell who was honoured in the 2006 New Zealand New Year's Honours List. Dorothy was awarded the Queen's Service Medal for the work she has carried out over a long period of time as a Social Worker supporting families affected by HD in the Wellington area.
Dorothy has been the driving force behind the successful Youth Camps, held on an annual basis, which offer the opportunity for young people in New Zealand who are involved with HD - be they 'at risk' or carers, to meet with others in similar circumstances. Congratulations Dorothy, your efforts and success have provided support to families and fellow workers alike.
Following this article is a letter from Cate Barrett who has joined the team at the HD Clinic at the Royal Brisbane Hospital as a Speech Pathologist. Many of you would have attended this Clinic and have received the benefit of Cate's expertise. If you wish to know more about this monthly Clinic, please phone the HD Office at Annerley.
By Cate Barrett
Dear Gwen, Firstly, I wish to thank you and the Committee for allowing me the opportunity to be part of the Multidisciplinary Huntington's Disease Clinic held monthly at the Royal Brisbane Hospital Neurology Outpatient Department. I am honoured to be the Speech Pathologist chosen to work within a highly competent and professional team led by Dr O'Sullivan and Iris Simpson.
All patients seen at the clinic were assessed and educated about swallowing problems. For a few people, issues associated with communication were also a topic of intervention. Each patient was supported by a friend or relative who was invited to participate in the interview and intervention goal setting.
Intervention consisted of:
Initially I was unsure which outcome measure would be the most appropriate, and after discussions with colleagues I have begun using the Royal Brisbane Hospital Outcome Measures for Swallowing tool (RBH OMS). As yet I have insufficient data to provide accurate details regarding the status of swallowing abilities for patients attending the clinic, but will do so in future reports.
It is also unfortunate that it has taken several months to develop the following guideline as I was uncertain of the general profile of patients that would be attending the clinic. At this stage research is tending to consider the following foci:
At present I am developing these guidelines into a proposal to be submitted to the Royal Brisbane Hospital Ethics Department (anticipated application in January or February). In addition I am continuing to canvas colleagues and pilot the test materials to ensure they measure self-efficacy and concordance. When the research is approved I will commence testing each patient I see at the clinic. It is envisaged that to obtain sufficient data worthy of journal publication, at least 13 patients would be assessed on two occasions; pre and post intervention.
Should you or any members of the Committee have suggestions regarding areas or methods that could be utilised in the research, I would be most keen to discuss this with them.
I will continue to liaise with you and Iris on a regular basis, however, in the interim, please don't hesitate to contact me at any stage to discuss any aspect pertaining to the clinic and how I can provide quality care to people with Huntington's Disease and their families.
* Self-Efficacy is the belief by the person that they are able to carry out a behaviour, for example "I believe that I can choose foods that I can swallow safely" - always/sometime/never. Self-efficacy is believed to predict how compliant a person will be with a behaviour.
Our National HD Awareness Day for 2006 is scheduled for the 31st March. Planning for this event is well underway, as the date is fast approaching. Here is an update of what is planned so far.
As well as raising awareness about Huntington's Disease, participants can be encouraged to give a gold coin donation that will directly go to the Association. Call Barbara at the office for more information.
Woody Guthrie Tribute
Woody Guthrie was a famous American folk singer who was affected by HD. His music still touches the lives of millions today and his wife Marjorie played a significant role in advancing the HD cause.
On Tuesday 28th November (between 10-11.30am), the Association is hosting a morning tea musical tribute at the HD Centre Day Respite Program in Annerley. This is a social event for Tuesday participants and their family members.
We are also arranging a story about Woody Guthrie's life and music to be published in Scene Magazine (free weekly publication) to co-incide with Awareness Day.
Stalls, Cent Sales
We are very grateful to supporters who have others functions planned. These include a Craft Stall, Cent Sale and a Trivia Morning Tea. We welcome any other suggestions and don't forget to ring the office if we can assist in any way.
Dr David Copland and colleagues from the Speech Pathology Department at the University of Queensland are conducting a study into language comprehension and communication in individuals with Huntington's Disease. This study will involve performing some computer-based tasks at your home or the University if you prefer.
If you are interested and want further information, please phone David on (07)3365 2817.
Molecular trigger for Huntington's disease found
6 October 2005
By Dr. Harold Robertson, Chair, Research Council, Huntington Society of Canada Department of Pharmacology, Dalhousie University, Halifax, NS
In the most recent research competition, HSC received nine applications for funding. Every research application undergoes a rigorous process: each application is reviewed and evaluated in detail by three reviewers, who then each submit written reviews; the Council then meets, usually via teleconference, to discuss all of the applications and rank them; and finally, the top applications are then recommended for funding, dependent on funds available.
I am pleased to report that three applications were approved by the Research Council, with funding to begin in July 2005. They are as follows:
NAVIGATOR Research Projects: awarded to senior investigators working in the HD field:
"Pharmacological Modulation of Microglial Responses in an Excitotoxic Animal Model of Huntington Disease"
Dr. McLarnon and his team are looking at compounds that may play a neuroprotective role in brain cells in Huntington disease. The focus of his project is on the role microglia play in promoting neuronal cell death in animal models of HD. Microglia are immume responding cells that are resident in the brain; these cells can cause inflammation when stimulated, and can directly damage neurons.
In his project, Dr. McLarnon will examine the involvement of microglial activation in transgenic HD mice, and will look at the impact of several pharmacological compounds to inhibit brain cell death.
"Defining Important Direct Protein-Protein Interactions with Huntingtin Relevant to Huntington Disease"
In other diseases, it has been proven that knowing the normal biological function of any disease protein has been able to accelerate greatly the progress of research towards therapies. One of the major stumbling blocks to Huntington disease research is that the exact biological function of normal huntingtin is still not known.
The purpose of Dr. Truant's project is to examine which normal cellular proteins directly interact with normal huntingtin.
When direct huntingtin interacting proteins are known, scientists can get important insights into the biological role of huntingtin. These interactions will also define precise targets for drug design or selection. Dr. Truant will assess the function of these proteins in vitro and in live cells using highly sophisticated microscopy technology unique to his university.
Examples of this work can be seen at www.RayTruantLab.ca
LANDMARK Graduate Award: for students working on HD
"Modulating Excitotoxicity in an animal model of HD"
Working in the laboratory of Dr. Michael Hayden, Mr. Carroll will use a mouse model of HD to investigate the role of excitotoxicity in HD. Exitotoxicity is a process in which brain cells die because they are over-activated; many researchers believe this is a major mechanism for brain cell death in HD.
Mr. Carroll will begin his project by identifying the processes crucial to exitotoxicity in isolated brain cells in a test tube ("in vitro"). After confirming which processes are crucial to cell death, he will attempt to modulate them in mice that have symptoms that closely mimic human HD ("in vivo").
This project is expected to bring greater understanding of cell death in HD, and will take us one step closer to our ultimate goal of an effective therapy.
HSC Collaborates with HSG on New Clinical Trial Project
The Huntington Society of Canada has partnered with the Huntington Study Group (HSG) for a new research program. The goal of this program is to award one grant for a proposal to test novel therapeutic agents in individuals with Huntington disease and to cultivate new investigator leadership for future HSG clinical trials. Applications to this program were reviewed by a committee consisting of scientists from the HSG, and from HSC's Research Council. We're pleased to announce that we have approved funding for a grant through this program:
"Tauroursodeoxycholic acid in Huntington's disease (TUDCA-HD)"
This clinical trial will examine a drug called tauroursodeoxycholic acid (TUDCA), a bile acid synthesized in the liver. It is thought that TUDCA might function as an anti-apoptotic agent - something that will have an impact against cell death - in HD, as suggested in studies in mouse models of the disease. The compound was one suggested for further exploration by the SET-HD (Systematic Evaluation of Treatments in HD) initiative of the Huntington Project. The drug (ursodiol, Actigal®) is currently used for other indications.
This study will enroll 20 people: 15 with Huntington disease and 5 "controls" - people without HD. The study will take place at the Oregon Health and Science University in Portland, Oregon.
HSC has enjoyed a long-term relationship with HSG in our shared fight against Huntington disease. We are pleased to support this new initiative, through the Laura's Hope Fund, in collaboration with the Huntington Study Group.
By Marjorie Centofanti
"I've held a heart as it beats. I've sat with people as they lay dying. But nothing in my training ever moved me as much as have patients with schizophrenia. Never to reflect quietly? To hear terrifying, bodiless voices?
In medical school I decided it's the most fascinating and devastating of diseases. And we've known so little about it for so long."
Diffusion tensor imaging fascinates Sarah Reading. "I drew a small line in the brain and asked, What runs through here? The software enhanced this bundle of nerves!"
For someone so eager to understand schizophrenia, psychiatrist Sarah Reding has chosen, apparently, the longer back way - by first researching Huntington's disease (HD). With its uncontrollable body movements, HD is a different beast from schizophrenia, though both diseases cause cognitive problems and psychosis. But Reading's route makes sense. We know the genetics behind Huntington's. The mutant huntingtin protein it produces is a staple of HD research. "It's our prototype for neuropsychiatric illness," she says, "and a great model for learning how a flawed brain leads to psychosis and other psychiatric problems."
Reading is one of the first to imagine the working brain of HD patients: her studies should both strengthen and add to what's emerging from Hopkins labs to open up both diseases. The work's at the faint-glimmer stage, but when light starts streaming in, it should also clarify Parkinson's, Alzheimer's and bipolar disease.
Three years ago, when Reading first came to Hopkins' Wednesday HD clinic, she experienced "a disconnect of sorts" talking with patients genetically marked for Huntington's but still lacking the hallmark motor symptoms. The cognitive disturbances she saw, however, surprised her. "We sensed they have problems, but standard tests don't pick them up." So Reading sought to confirm the early flaws, using her background in psychiatric neuroimaging, with the idea that their appearance might point out a prime candidate for therapy.
In two separate studies, patients had functional MRI (fMRI) scans, lying in the scanner while their hands pushed buttons for a variety of cognitive tests. The results revealed slowed-down brain regions tied to planning and anticipation - executive functions - far earlier than HD's major movement, mood or thinking problems appear, her team found. The flaws parallel early shrinking of the caudate nucleus - the brain's focus of the disease.
But more than mapping HD's course, Reading aims to learn what's wrong on a whole-brain level. How for instance, do abnormal signals her team's picked up on in one part of the brain connect to a dying caudate nucleus? "In short," she says, "I'm really interested in the white matter, the wiring." Until recently that would have been futile. No way existed to follow the nerve tracts that course between brain centers like so much transmitting spaghetti.
Enter DTI - a powerful technique Hopkins researchers are nurturing. A type of MRI, diffusion tensor imaging lets them check signs of brain "connectivity" such as how thick or plentiful nerve tracts are. By combining fMRI and DTI, Reading is increasingly able to "check the connections" in sickness and in health.
"Cognitive problems arise from abnormalities over wide areas in the brain," she says. "So we hope to examine the connections between them to see if flaws arise in a disease-specific pattern." In HD, the idea that wiring goes awry early on is tremendously interesting, and in schizophrenia, abnormal development of wiring may be its basis."
Translations - Plan of Attack
Schizophrenia affects about one in 100 in this country; Huntington's disease touches about one in 100,000. But understanding the "smaller" disorder could one day help overthrow the "larger", says Christopher Ross, M.D., Ph.D., "because it's such a good model. With HD, we've spent 10 years understanding the mutant gene and the protein it makes. We have a mouse model and cell models. Now we're truly understanding the disease - and how to try to stop it."
Ross, a neuroscientist and world expert on HD, leads Psychiatry's neurobiology front against psychiatric illness; seven laboratories bent on understanding the brain disease biology. The plan he's spread out involves first clarifying HD and related diseases, then expanding into Parkinson's disease - which, like HD, is clouded by psychiatric illness. Lessons learned from traditional "neuro-generative" diseases should carry over to "neuropsychiatric" ones: schizophrenia, bipolar disease, obsessive compulsive disorder and others.
Sarah Reading's work (above) beautifully illustrates that sort of carry-over, Ros says. "She's applying the most advanced imaging techniques to psychiatric disorders in a truly novel way. A part of the brain might look normal, structurally, by traditional scans. But Sarah's use of fMRI and DTI shows that connections between those areas are also affected." So far, Reading's discovered that key brain connections between the cortex and the caudate nucleus aren't right in HD patients.
As for schizophrenia? "Her whole-brain view of brain misfunction is especially relevant there," Ross says, "because we think it's more global brain functioning rather than loss of particular brain structures that's the problem." But the disease is so complicated. "If we can integrate the imaging with our genetic and our cellular findings, then we'll know schizophrenia intimately enough to turn it around."
For more information about our clinical and research programs in Huntington's disease visit www.hopkinsmedicine.org/psychiatry/neurology/ or call 410-955-2398. John Hopkins Medicine.
But, firstly, allow yourself to share your own reactions, feelings, hopes and role options with a close friend or minister. You may wish to write yourself a confidential letter about how you are feeling and in that way "let out" your mixed thoughts and emotions.
Also, if you feel the need, allow yourself to seek short-term counselling to help prevent a build-up of unresolved grief reactions. You could also treat yourself to some time-out: to reflect, renew and prepare.
From an information perspective you can ensure that you keep up to date with genetic and medical scientific developments. The future is looking more hopeful. Also keep clarity about the differences between children "living at-risk", those like your 24 year old who are "gene positive" and the actual "onset of disease" as with your SP. It is also advisable to keep clarity about the usual changes all people face and cope with, which are not HD related. All "parent-child" relationships change as each person ages or experiences new stages of living.
There is the saying, knowledge is power, so try to apply this to your lives.
Using "props" will also help create "talking points". That is the newspaper, magazines, letters, mail received, photos, jokes, poems etc. Hopefully you have provided a photo album (with photos dated, labelled and people named) for SP to share with others. A Visitors' Book or Diary can be used by all visitors to record things, which SP might want to be telling you about. That way everyone has a single reference point to catch up on events (past and future). A "This is Your Life" book is also a great "prop" and if one has not been done, then this can be a "project" you can perhaps do together.
Between visits you may wish to send a postcard, letter with news clippings, word games etc and this helps create conversation. And do not forget to write about family news and local "gossip" or whatever you always shared before. If SP receives the information in writing before your visit, you will be able to more easily elaborate using this as a reference.
It may be important to think about where your visit will take place. For SP it could be the opportunity for a change from the usual sights, sounds etc of the hospital. Simply sitting outside in the garden or at the front gate will provide non-hospital stimulation. If the weather is against outdoors, find a quiet spot where you can bring in your hobby or interest for SP to watch you "doing". Creating a continuation of your roles and interests is unique and important.
Christmas Hamper Raffle - We are delighted to advise you that Alison Hopgood, Committee member was the winner of this raffle. Alison has supported the Association for many years and is indeed a worthy winner. $520 was raised and again we are thankful to the Rotary Club of Acacia Ridge for their continuing support.
Sausage Sizzle - Bunnings, Cannon Hill on Sunday, 15th January, 2006
Raffle of Double Patchwork Quilt - This quilt was donated by the Little Mountain Quilters and is valued at $1200. It is a State wide raffle and forms part of our Awareness Day activities. Tickets available from office.
Garage Sale - The Management Committee has decided to hold another Garage Sale this year on the 8th July. In the next Newsletter we will provide you with more details, however in the meantime we would ask that you put aside any bits and pieces you no longer need. Please do not include apparel (clothes, shoes, handbags, socks etc.), more in the line of household goods etc.
Community Assistance - We have received, and gratefully acknowledge major financial assistance from the following donors:
Thanks to Carol Booker for organising a raffle of 2 tickets to the Woodford Folk Festival (donated by the Woodford Association). Carol conducted the raffle at her workplace, Caboolture Shire Council, raising $200. Many thanks Carol.
The Good - The Bad and the Beautiful on Macleay Island.
The Good - A day out shopping for Pete "Wobbly" Woods of Macleay Island reassured him that honesty is still left in this world.
It was late July when Pete travelled over to the mainland to do some shopping at Victoria Point Shopping Centre where he was having a look around at the Crazy Clark's store in search of a wok to buy for his wife Gina. He then browsed around Dick Smith Electronics and then decided to travel on back to the pontoon at Redland Bay. It was when he got to the pontoon that he realized he only had $2 on him and had left his wallet containing $520 back at Victoria Point shops.
A phone call to his wife Gina from the Centre Management at Victoria Point was received telling her his wallet had been found and handed in with all the money left intact. Peter would like to send a heartfelt thank you to the cleaner who found the wallet and to Centre Management of Victoria Point Shopping Centre. No worries, Pete, we shall send them a copy of the paper.
Doing the "right thing" in this world is sometimes the hardest but always the most powerful. Anne Raymond