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AHDA Qld Inc

Newsletter December 2007

In this Issue

President's Report

Dear Friends

The year 2007 has been an extremely busy year for the Management Committee and the staff of the Association. I have received wonderful support from Committee members and staff during the first few months in my role as President. With the assistance of our many volunteers across the state we have continued to provide support and friendship to families. It is a team effort and to you all I express my sincere thanks and gratitude for your contribution.

I would also like to thank Iris Simpson for her continued support in assisting families to access clinical services at the HD Clinic. Iris, Theressa and volunteers have also completed yet another year's program in the Day Centre which continues to be a very successful respite service for carers and a stimulating day for participants.

During the past month I was delighted to have the opportunity to join in the various Christmas celebrations and get-togethers with family members. These were happy occasions and highlighted to me the very valuable support our Welfare team extends to families. Thank you for making me welcome.

Fundraising: I am pleased to report that our financial position for the year to date is strong and should carry us through for the next couple of months when income traditionally drops over the Christmas and New Year period. The Management Committee is looking at new fundraising options and these will be discussed in our February edition.

We have been advised by Queensland Health that the Association will receive a funding increase of 3.6% for the 2007/2008 financial year. This means an increase of approximately $4,500. I extend our thanks an appreciation to Queensland Health for this increase.

Membership: Please don't forget to renew your membership. If you are unsure whether your fees are current, please contact Lisa at the HD Centre to check.

I wish each of you and your family and friends a happy and safe Christmas and New Year.

Gerry Doyle, President

WELFARE UPDATE

2007 has been another busy, whirlwind of a year. We have farewelled and welcomed a number of staff and I am happy to say that we have ridden the wave of change very well under the Management Committee's guidance and support. I am very excited about the team we now have which has consolidated throughout the latter part of the year. Whilst a small team, we are fortunate to have a dedicated group of people.

Our 2007 National Awareness Day theme was 'Meeting the Care Needs of Younger People'. This will continue to be a priority and we are working with Disability Services Queensland's 'Younger Persons in Residential Aged Care' (YPIRAC) where we can, to secure more appropriate accommodation and support options. The 2008 National Awareness Day is set for March 28th. The focus next year will be on carers. We will include more details in our next newsletter.

Welfare staff continues to visit the main regional centres (including Cairns, Townsville, Rockhampton, Mackay, Bundaberg and Burnett) twice a year. Regional visits are a priority for our service and we look forward to continuing our visits in 2008.

The sad reality of Huntington's Disease is that we do lose people, most of whom have lived with Huntington's Disease for many, many years. To those people and their families, our thoughts are with you. Your lives continue to inform our work to improve community support for people with Huntington's Disease.

Researchers in Australia and internationally continue in their quest to find ways of improving the quality of life for people with Huntington's Disease. In the meantime, we will continue to assist families to access specialists and enhance people's lives through activity, diet, exercise and support.

Family Respite Holiday: On the 7th November, we took three families away for a three day holiday. Our aim was to provide a fun break for families with young children who have a parent with Huntington's Disease.

Our destination was Maroochydore on the coast north of Brisbane. We stayed at the Maroochydore Coach House, situated along the Noosa River. Looming rain clouds and the odd shower didn't dampen our spirits as our seven wonderful children (between the ages of 8 and 12) kept us fully entertained.

There was plenty of room to run around and play by the water's edge - the crab life being of particular interest as well as the swimming pool. We also went to the cinema to see the movie 'Game Plan', while the parents enjoyed a bit of R & R. Our last day was spent at Underwater World.

We were also lucky enough to have Gwen Pratten join us for this holiday which meant that one Welfare Staff member could remain at the office. If you are thinking that Gwen came along because she is struggling to cope with retirement, then think no more - her newly adopted slogan of "don't ask me, I'm just a volunteer" followed by a raucous laugh, says it all.

For me, the highlight of the holiday was watching the kids grow from strangers to friends and simply enjoy 'hanging' together - they even put on an evening concert where they choreographed dance routines and displayed their amazing gymnastic skills.

Thank you to Barbara who raised additional funds for this holiday and Lisa who organised the bags of goodies for the kids and of course Gwen who volunteered for the three days and contributed greatly to the fun. But, mostly thanks to the parents and children who came along - I hope you enjoyed the break.

Julie Morrow
Senior Welfare Officer

World Congress & International Conference on Huntington's Disease
Dresden, Germany, 2007

"Joining Forces for HD" was the theme of the 2007 World Congress and International Conference on Huntington's Disease held in Dresden, Germany, and it certainly was very reassuring to be in the company of this small army of people, bringing together doctors and scientists from around the world who, through their collaboration, are seeking improved treatment and an eventual cure for HD.

This was the third time that the World Federation of Neurology (WFN) Research Group of Huntington's Disease and the International Huntington Association (IHA) had fully combined the biannual meetings of these two organizations. It seems timely to remind ourselves of the enormous commitment and dedication of the founder members of the IHA and the Research Group whose pioneering efforts, at a time when very little was known about the disease, enable us today to benefit from such a gathering and collaboration of so many experts in the field of HD.

The first International Meeting took place in 1974, when the founders of the Canadian and British HD Association attended the annual meeting of the American HD Society. In 1977 the first combined meeting of the Research Group and the representatives of six countries took place in the Netherlands, and in 1979 the International Huntington Association was established at the International Meeting in Oxford (England). In 2007 there are some 35 member countries with further contacts in countries working to establish an HD Association.

On Saturday September 8, prior to commencement of the Conference, the IHA Business meeting took place with representatives from 20 countries present. It was a privilege to represent Australia along with Shiralee Judge from the AHDA (SA & NT) as the second delegate, and my sincere thanks to Kelgrove Holdings Pty. Ltd for their assistance with the cost of my travel and accommodation.

The Agenda included Reports from the President and Treasurer, Acceptance of a new Constitution and the election of a new Board. The retiring President, Christiane Lohkamp was thanked for all her hard work. It should be noted that all IHA Board Members are from HD families. The new Board will endeavour to hold teleconference meetings as often as possible to discuss important on-going issues relevant to the international HD community. The new Vice President of the IHA, Bea de Schepper is also on the Working Group of the Euro Network, and this was seen as beneficial to both groups to learn from each other.

IHA Board Members 2007/09
Asuncion Martinez (Spain) President
Bea de Schepper (Belgium)
Vice President
Marie-Odile Perrousseaux (France) Treasurer
Ann Jones (Australia)
Secretary
Asif Khan (Pakistan)
Member at Large
Gerrit Dommerholt (Netherlands) Member at Large
John Stainsby (Canada)
Member at Large
Kaori Muto (Japan)
Member at Large
Ursula-Anna Kleibrink (Portugal) Member at Large

International Development Officer:

Christiane Lohkamp (Germany)

The next World Congress will be held in Vancouver in September 2009 and it was encouraging to have John Stainsby from the Canadian Huntington Society elected as an IHA Board Member.

On Sunday September 9 2007, the Congress Opening included a tribute from Nancy and Alice Wexler to their father Milton Wexler, the founder of the Hereditary Disease Foundation, who passed away in March 2007, acknowledging his significant contribution to Huntington's Disease.

Over the next three days joint plenary and more specialised sessions, targeting the interests of scientists, clinicians and lay people took place with an additional display of more than 180 posters inviting discussions with the presenters. A Science writer was employed to simplify the writing of the IHA presentations and it is hoped these will be completed in November for distribution.

Separate sessions had been organised for the IHA delegates and these included a particularly fascinating power point presentation by James Pollard from the US entitled: "Thinking About Thinking with Huntington's Disease. How it feels, what we can do." This session certainly gave us some food for thought and we hope there will be an opportunity in the future for James Pollard to visit Australia to share his knowledge with us.

Claudia Downing (Cambridge University, UK) spoke about the challenge of genetic information, Identifying, responding to and Living with the Challenge of Genetic Risk for HD. This presentation was followed by an open discussion on genetic testing in HD.

Issues to be taken into consideration were discrimination in areas such as education, employment and insurance. The question of minors (under 18 years of age) having access to Genetic Predictive testing was an important topic for discussion. A decision was made that, at this time, the burden of test results for children could be detrimental. There was always the possibility that if a positive result was received, this could affect the parent's decision making and they may view the child's upbringing differently to a non-affected child. It was therefore agreed that the Guidelines for Predictive Testing as passed by the WFN and the IHA and published in the Journal of Medical Genetics (1994;31:555-559) and in Neurology (1994;44:1533-1596), continue to state the recommendation that "The test is available only to individuals who have reached the age of majority (according to the laws of the respective country)."

The new President Asuncion Martinez-Descals, addressed members regarding the Predictive test guidelines and stressed the importance of making representatives from the different countries aware of the guidelines. She also emphasised that she would like to see the development of "PGD (Pre-implantation Genetic Diagnosis) Guidelines" to clarify the process. For example: Should a sufferer from HD be considered as a candidate for the PGD test? This is a complex issue and it was felt there needed to be much more discussion on this subject.

There followed further discussion on the Future Direction of the IHA: Expectations and Ideas. To allow feedback to the WFN & IHA organising committees for future planning, delegates were asked to comment on the Dresden meeting. Most people felt that the programme had been much better tailored to the comprehension of IHA members. Delegates felt it important to continue to combine the two meetings (the WFN & IHA) allowing scientists to have a broader view of Huntington's Disease from contact with HD family members, and the opportunity for more in depth discussions by all parties.

Other items discussed were the IHA web page which is urgently in need of updating and it is hoped that work will commence on this in the very near future. The subject of how countries deal with internet and chat forums was raised and there were concerns as to how well these are supervised and that open forums were difficult to control. This is an issue that will need to be monitored. Proposals had been received from Melbourne and Mexico to host the 2011 World Congress, and it was unanimously agreed that the WFN be advised that the choice of the IHA members was Melbourne.

Prior to the meeting the IHA had circulated a questionnaire on Support Systems in member countries, including information on estimated number of persons with HD, at risk, gene carriers etc. It is hoped to collate this information for future use.

During the three days here were two social events for all delegates which included the Welcome evening and Gala Dinner, and for the IHA members a Farewell evening which gave everyone the opportunity to reflect on the very informative and interesting three days.

It would be very difficult to encapsulate the mood and energy of the meeting, the enthusiasm and commitment of all the professionals who dedicate themselves to looking at "the whole HD picture". Such a gathering highlights the importance of people at all levels coming together to share their knowledge and experiences and work towards a better understanding of this very complex disease.

We all have a part to play, and joining forces for HD will almost certainly help to share the load.

Ann Jones, Chairperson Australian Huntington's Disease Association (National), 23rd October, 2007

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AGM2007

AGM 2007, from left to right: Ray Bellert (outgoing President), Julie Morrow (Senior Welfare Officer) and Gerry Doyle (current President)

Santa and Barbara Gray

Santa and Barbara Gray at the Day Respite Centre Christmas Party

RESEARCH

The Huntington's Disease Society of America is pleased to welcome Marsha L. Miller Ph. D, well-known for her work on the HD Lighthouse, HD Advocacy Center, and Stanford HOPES HD Project, and fervent advocate on behalf of people with Huntington's Disease as a partner in our effort to provide relevant information to the HD community. You may write to Marsha with questions or comments at mmiller@hdsa.org

Can We Get There From Here?
The Huntington's Disease Community's Strategic Plan for the Cure

Last week, in a speech to the Society for Neuroscience, former Intel co-founder and CEO Andrew Grove called for a revolution in biomedical research. The week before, Michael J. Fox, the likeable and well known TV and movie actor, wrote a column for Forbes called "Who's in Charge of Cures?' in which he called for creative solutions to bridge the gap between basic researchers and pharmaceutical companies. Both of these men have Parkinson's Disease and both are frustrated. Both have seen industry-transforming technological changes in their own fields and want to see that same American ingenuity being applied to cure neurodegenerative disorders.

Grove and Fox agree that there is a huge gap between academic research into diseases and the pharmaceutical industry. Fox wrote, "A researcher in a university lab needs to focus on the kinds of incremental steps forward that get published in scientific journals, while a decision-maker in an industry setting is on the hunt for a massively profitable blockbuster drug. The philosophical and funding gap between these two short-term goals is a chasm, and so far, it's shown no signs of bridging itself."

The question that HD families need answered is, "What is the Huntington's Disease community doing to bridge the gap and bring about real treatments?" Do we have a plan to translate research findings from the lab into treatments in the clinic?

We know that Huntington's Disease research has attracted some of the best and brightest academic scientists there are. We know from our annual HDSA conventions as well as reports from research conferences that they are focused on understanding the disease so that it can be treated and that they share their results with each other and with HD families.

We know that there is an exciting amount of research going on into Huntington's Disease. Nearly every week, there is another press release announcing a new research finding, and often the university or research facility's PR person makes sure to put in the headline or text the idea that the new information may lead to a cure. It's encouraging to read these reports but hard to put them in context with all that is going on.

After awhile HD family members start to wonder what progress is really being made. "Wait a minute, wasn't a different line of research last month supposed to lead to the cure?" And we might wonder why we are still funding basic research when compounds are already going into clinical trials and what the excitement over drug discovery and development is all about.

What we HD families may not be aware of is that the Huntington's Disease community does indeed have a strategic research plan and that Huntington's Disease research is happening in parallel basic research, target validation, drug discovery and development, preclinical research, and clinical trials. Different approaches are being pursued simultaneously and there are dozens of drugs in the pipeline. There will be no "Oh no, back to the drawing board!" disappointments in HD research. When an approach or a drug is no longer promising, resources are quickly redirected towards those that are.

The Huntington's Disease Strategic Plan: A good way to learn about the HD strategic research plan is to attend the annual HDSA convention or to read convention reports. In 2005, Dr. Robert Pacifici, newly hired Chief Scientific Officer, electrified the audience with the strategic plan to develop treatments. His presentation showed family members how the different stages of research fit together and he outlined the steps needed to translate research findings from the lab to treatments in the clinic.

In subsequent conventions, Dr. Pacifici and Dr. James Gusella have updated the HD community on progress in achieving goals and objectives. Dr. Gusella, Professor of Neurogenetics at Harvard Medical School, is the HDSA Medical/Scientific Advisory Committee Chair and a Coalition member.

Basic Research: Basic research into the nature of the disease process is being conducted around the world and is supported by governments, foundations, and grants from HD societies, including the HDSA. Dr. Pacifici and Dr. Gusella answered questions from the audience at the 2007 HDSA convention. In an interview in Newsweek just before his address to the Society for Neuroscience, Andrew Grove stated his belief that there is too much conformity in academic research into diseases and argued that there needs to be more room for 'wild ducks.'

New ideas are important and part of the strategic plan is to promote them by encouraging talented scientists to go into Huntington's Disease research and by funding innovative ideas. As Dr. Pacifici puts it, the 'ah ha' moment can come out of left field. CHDI maintains biological and chemical repositories to make it easier for academic researchers to participate in HD research. HDSA awards research grants that serve as vital seed funding for new or innovative research and awards fellowships to promising postdoctoral scientists in the early stages of their career.

In the last decade, much has been discovered about what goes wrong in Huntington's Disease. Some of the major research findings about how the HD protein causes dysfunction and cell death have been discovered by members of HDSA's Coalition for the Cure. The Coalition is made up of 16 international labs.

At the 2007 convention in Oklahoma, Dr. Gusella explained the goals of the Coaltion for the Cure. They are to

1) "Discover the biochemical differences that occur in HD," and to

2) "Define which ones are critical in the disease process."

These will be the targets for CHDI's translational research.

Dr Pacifici and Dr. Gusella answer questions from the audience at the 2007 HDSA convention

The Coalition has been focusing on answering key questions about the pathologies which appear to be most critical in Huntington's disease. These are:

      1. Mitochondrial dysfunction and energy metabolism
      2. Folding, aggregation and clearance of the HD protein
      3. Huntington proteolysis and post-translational modification gene transcription function of the Huntington's protein

This focus has been paying off in insights about the disease process. In a study published this summer, Coalition member Dr. Marcy MacDonald and colleagues showed that the mitochondria, the energy factories of the cell, are not defective in HD, but rather are not being managed properly.

As more has been learned about the disease process, more research funding is being devoted to target validation. A target for drugs or gene therapy would be an enzyme, protein, receptor, or gene that contributes to the disease process.

In the last year or so, there have been several exciting studies published which have identified drugs for drug development. In the summer of 2006, Coalition member Dr. Michael Hayden and his colleagues identified caspase 6 as a potential target. Caspace six is an enzyme which is implicated in the cutting up of the HD protein into toxic fragments. HD mice which were also engineered to be resistant to caspase six never developed the disease. CHDI has been funding research into the development of a safe and effective inhibitor of caspase six.

This summer Dr. Ray Truant and Ph.D. candidate Randy Atwal Singh found that the huntingtin's protein moves into the nucleus of the cell in response to stress but the mutant (HD) version has trouble exiting and accumulates, causing damage. They are now working on developing an inhibitor of the molecular 'zip code' (a kinase, which is a certain type of enzyme) which directs the huntingtin's protein into the nucleus.

Also this summer, coalition member Dr. Elena Cattaneo and her colleagues have shown how the huntingtin's protein interferes with gene transcription. In HD, a repressor protein known as REST enters the cell's nucleus and suppresses key genes such as the one for brain derived neurotrophic factor which protects striatal neurons and encourages neurogenesis. A cell based assay has found a compound which upregulates the suppressed genes and increased the viability of the cell.

There is still more to be learned about the Huntington's disease process and basic research still has a major role to play, but the knowledge already gained is likely to lead to significant treatments.

Basic research is followed by drug discovery and development where we have even more exciting news to discuss. I'll talk more about what's happening in drug discovery and development in the next article.

Marsha L. Miller, Ph.D., November 13, 2007

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Helping You Help Me

Take a shower

A note of thanks to my helpers and some ideas to make it easier for both of us!

Hello, partner!

This brochure is for you kind folks who will help me shower. My partners! You might be my spouse, a nurse aide, a friend or another relative. There are no special methods that you need to know just because I have Huntington's disease (HD). However, there are some easy techniques that you can use to accommodate some of HD's challenges. Many other folks with HD have found that they make showering easier and more comfortable for them.

When you need somebody to help you take a shower it becomes less pleasant than it was in the past. There are different reasons or combinations of reasons. Sometimes I simply wish I could continue to do it for myself. I've also learned that there are some universal approaches that some folks with HD and their helpers use to make the whole thing go smoothly again. More importantly, though, I've learned to avoid those ways that can be more irritating and annoying than they are helpful.

What we've learned

Many other folks with HD who need help showering like I do tell us that:

  • " They hate surprises. They'd like to know when the water's coming on, when you're going to wash their face and rinse their hair.
  • They hate waiting for a towel, for soap or, worse, for help!
  • They've had unpleasant experiences in the tub or shower. Perhaps they've slipped or fallen. Maybe they've had people help them that have been no help at all.
  • They want to know what to expect. It's likely that different helpers help in very different ways. Sometimes it's gone smoothly and other times…aaarrrggghhh!
  • When the water's on, reassuring words are more helpful than reprimands or ever changing instructions.
  • They want it done as efficiently as possible.
  • It's easier if it's done the same way every time: in the same position, at the same time, in the same order…with reassurance.
  • They really want to know how much longer it's going to take.
  • We need a handheld shower head so you, my helper, won't get soaked, too.

Helping you help me

Now let me tell you a handful of things that will help you help me:

  • Please remind me when it's almost time and when it is time to shower.
  • Please understand my two most important concerns: that you've helped me position myself safely and that you have everything we need so that you don't have to leave me.
  • Please give me a "heads up" that you're about to wash my hair, face, front and butt.
  • Please help me in the same order as my other helpers, from top to bottom.
  • Please give me a "play-by-play" of what you're doing and what we're going to do next.
  • Let me know when we're halfway done, almost done and finished!
  • Please use the same few instructions; it's easy to feel confused with all that's going on.

Getting in Position

A professional baseball player comes to bat. He carefully places each foot in the batter's box. He checks his balance, his distance from the plate, his grip on the bat and readjusts his feet a bit. Only then does he look up, ready for the pitch. Let's do it the same way! We'll take as much time as needed to get safely in position, either standing up or in a shower chair. Making sure that the grab bars are within reach, that I have a wide base of support and that both of us are comfortable. Now turn the water on!

Comfortable and Quick

Folks with HD often find that it takes them a few moments to respond to questions and instructions; and a bit longer to pull our thoughts together. In the tight space of a shower stall, in a small bathroom, with water flowing and splashing, naked, it can get confusing very easily! Together we can do this comfortably and quickly. But it's easier for both of us if you tell me what's going on, what's coming next, how much longer we've got, give me the "heads ups" and use the same order to help me wash up. If I don't respond quickly please wait a bit longer for me.

Same Help in the Same Order

1. Let's shampoo your hair."
2. Tilt your head back; I'll rinse your hair."
3. Now let's wash your face."
4. Let's get in your ears."
5. Let's get under your arms."
6. Let's wash your crotch."
7. Let's wash your butt.
8. And let's wash your legs."
9. (If seated, "Lift your foot and I'll wash it.")

Same Words of Reassurance

"I'll be back in five minutes. It's almost time to shower!"
"OK, we've got towels, soap and shampoo."
"OK." We're safe. Let's go."
"I'm going to lather up your hair."
"Now, let's wash your face (Or crotch, or butt, or leg, etc.)"
"Good, we're halfway done."
"Finished! Let's get dry."

A Closing Word to My Helper

My aim is not to complicate a simple thing. My aim is to have you understand that I need to know what's happening next because I hate surprises, that's it's easier for both of us if we do things in pretty much the same order, that I need a lot of reassurance and that I can become confused easily. After a few times through it together it will become second nature! It'll be a piece of cake. Your job is to help me. My job is to help you help me. We'll be a well-oiled machine!

Acknowledgements:
Jimmy Pollard/Ghostwriter 8-'05
Lowell, Massachusetts 01852, USA
jjpollard@comcast.net

FUNDRAISING

Community Assistance - We have received, and gratefully acknowledge major financial assistance from the following donors;

H Baker
G Bengston
S Bourne
G Cheyne
R Craig
PR Dart
J Gauci
N & I Golby
P Gordon
S Gordon
J Hall
A Harding Smith
CT & HA Murray
B Peters
N Robertson
GM Spencer
Sunshine Coast Quilters
Townsville Support Group
J Zschech