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Newsletter Apr 2004
In This Issue
- Presidents Message
- Welfare Update
- Hope for Huntington's Treatment
- Simple Sugar Eases HD in Mice
- Preimplantation Genetic Diagnosis (PGD) for Huntington's Disease using Grand Parental Exclusion
- Living Positively with HD
- Life Reviews are OK
- Question & Answer
- Pharmacists: the hidden gurus
- Fund Raising
Presidents Message
Dear Friends,
Since our last Newsletter many things have happened to improve support to our many families.
Jeff Taylor has joined the Association as our new Welfare Officer and I know you will all join with me in welcoming him. Jeff's experience in health care will be of great benefit to all and we look forward to many years of working with him to ease the work load for everyone in the Association in Queensland.
On the 9th March we celebrated the 10th Anniversary of our Day Respite Program. We first opened the doors to our Day Care activities on the 7th March 1994 and many of our volunteers and clients attended the Celebration at Annerley. We were proud to be able to thank all of those volunteers who have provided care and assistance over the years and special thanks were given to Rob Farmer and Diane Murtha who have been exceptional in their support since day one. Special Certificates were presented to Rob and Diane to thank them for their total commitment to our clients.
On a sadder note, Diane has decided to take things a little easier and will be leaving us at the end of March. Our best wishes go with her.
A special thank you goes to all our volunteers - without you we could never have achieved the success that we have. Your Management Committee has a full programme of activities to raise funds for the Association. The recent Movie Night that was held on the 12th March was enjoyed by all who attended and it was another successful fundraiser for us. A special thank you to Barb and Don Gray for providing the facilities at their home for the evening.
Our HD Awareness Walk will be held on the 23rd May and details are available from our office. Primarily the Walk is to raise awareness of Huntington's Disease and we hope that many families will participate.
Our Web Page address has changed. Please alter your records to: qahda.com
We would like to acknowledge the ongoing support and assistance of Diane Allan who has been our Web Page Volunteer for some years now. Nothing is too much trouble for Diane, she keeps abreast with any changes we may require and we often receive feedback on the excellence of our Web Page.
Thank you Diane for your valuable contribution, and we also extend our appreciation to Essential Advice Pty. Ltd. for their donation to cover costs of moving our web site.
Ray Bellert, President
WELFARE UPDATE
Dear Friends
You will recall from our last Newsletter that Jan Hannah-Munster had resigned and accepted a position with Red Cross. We have employed Jeff Taylor, who is a registered nurse and he has been working with us for about 4 weeks. Jeff will introduce himself to you later in this publication.
This is the first time we have employed a male on our Welfare team, however I have been thinking for some time that this would be a positive move for the Association. Jeff has demonstrated a caring and compassionate approach to his work and I feel he will add another dimension to what has been a female dominated area. Welcome aboard Jeff. We will continue to work with families in separate areas, and Jeff will be responsible for the following areas:
Metropolitan Brisbane west of Logan Road extending to Ipswich; Toowoomba; Kingaroy and areas in between; north to Bundaberg and Gladstone including areas in between such as Maryborough, Nambour, Sunshine Coast and Caboolture etc. Families living in the northern suburbs of Brisbane will also be working with Jeff.
If you are requiring support, either Jeff or I will be happy to discuss your problem, as we function as a team and I have some understanding of the people Jeff is supporting.
During the early part of this year I have been working with families in Cairns, Townsville and Mackay. During a recent visit to Mackay I was pleased to host a "Family Get Together". This was a first for this area and we are planning to enjoy a BBQ on my return visit later in the year.
As President, Ray has mentioned Diane Murtha is leaving our Day Respite team after being involved since its inception ten years ago. We certainly wish Diane improved health, wealth and happiness and sincerely thank her for her support and loyalty during this period. Kind regards,
Gwen Pratten, Welfare Coordinator
I am very pleased to have been given the opportunity of working with AHDA (Qld) and would like to extend my thanks to all those people who have given me such a warm welcome.
I come to the Association with a nursing background, having worked in both hospital and community settings. Over the past few years, I have worked as a community nurse, involved with individuals and families in a variety of differing situations. I particularly enjoy working with people in their own homes and familiar surroundings and a key focus for me has always been to assist individuals and families to make informed independent decisions.
Since joining the Welfare staff I have had the opportunity of meeting some of you already and am keen to continue that involvement into the future. I also look forward to meeting other families and being of assistance in whatever ways I can.
My contact with families will cover a large part of Brisbane, west to Ipswich and Toowoomba and as far north as Bundaberg. I would add that should anyone wish me to pay them a visit, just give me a call at the HD Office and we can organise a time. Best wishes,
Jeff Taylor, Welfare Officer
RESEARCH UPDATES
Hope for Huntington's Treatment
Research hopes to create a tablet drug for Huntington's
A brain chemical has been found that could improve the lives of people with Huntington's disease, scientists say. Mice tailored to develop the degenerative brain disease had fewer symptoms and declined at a slower rate when given Ciliary Neurotrophic Factor.
The team at Portugal's Centre for Neuroscience in Coimbra used gene therapy to reprogramme the brain to produce the chemical.
A UK team is now working to produce a tablet that has a similar effect. The research, published in the journal Experimental Neurology, is further evidence that the lack of certain "neurotrophic factors" is key to the progressive symptoms of Huntington's.
Late Onset
The illness, which usually emerges when the patient is in their 40s, is caused by a faulty gene. Instead of producing the correct levels of the neurotrophic factors, the mutant gene suppresses production, and brain tissue in an area called the striatum dies. Symptoms include mental disturbances and uncoordinated or involuntary movements. The continuing loss of brain tissue eventually removes the ability to move, walk or even swallow, leading to death.
Scientists have known the identity of the gene responsible for Huntington's since 1993, but there is no cure for the disease. Patients can be screened for the mutated gene, but little can be offered in the way of treatment.
Chemical key
However, more recent research has pinpointed what the gene, and its mutated Huntington's version, actually do. Identifying the importance of neurotrophic factors in keeping the brain healthy has allowed scientists to work on producing ways of keeping the disease in check.
The Portuguese team used mice, which have a copy of the key gene, and develop the disease in a very similar way to humans.
In order to treat them, they developed a virus, which is programmed to insert a new, correct copy of the gene into cells that it "infects". When this was injected into the mouse brain, enough cells began to produce the neurotrophic factor to make a difference to the symptoms of Huntington's.
The progression of the disease in these mice was slowed down.
Long-term treatment
However, it is possible that, even using this method that a human patient with Huntington's would need repeated injections into the brain over at least a 20 to 30 year period. So other researchers are hunting alternative ways of achieving the same effect.
Experts from Bristol University are working to identify molecules that will bind to the same "receptors" on the surface of brain cells as the neuroptophic factors.
Dr. David Dawbarn, one of the Bristol researchers, said that this, if successful, could lead to drugs in tablet form which might have a similar effect to brain injections.
He told BBC News Online: "It might not be practical for someone to have regular injections into the brain over the long term. Hopefully we can find compounds that are equally effective."
Source: BBC NEWS:
Published: 10 January 2004
Reprinted: "Gateway", Volume 7 No 1, January/February 2004, AHDA (NSW) Inc.
Simple Sugar eases HD in Mice
A simple sugar called trehalose helps to relieve the symptoms of Huntington's Disease in mice. The discovery may help researchers to design drug treatments for the human condition.
Nobuyuki Nukina and colleagues from the RIKEN Brain Science Institute in Saitama, Japan, tested a variety of compounds on a test-tube model of the disease. They discovered that sugar compounds seemed to have a positive effect. They then tested one specific sugar called "trehalose" on genetically modified mice with Huntington's disease-like symptoms.
Left untreated, the mice develop aggregates of a badly folded brain protein, called Huntingtin. The animals become uncoordinated, lose weight and die young - at about 3 months old.
But when the animals were allowed to drink a weak solution of trehalose for most of their lives, symptoms improved. Sugar-treated rodents had 40% fewer protein aggregates, lived 10% longer and lost 25% less weight. They were also more co-ordinated - they walked more normally and were less likely to fall off a rotating rod.
Trehalose is a naturally occurring sugar that is used in the food industry to sweeten chewing gum and enhance the flavour of some fruit and dairy products. It also boosts shelf life, and is commonly used as a preservative for cultured cells in the laboratory. But the doses consumed by people are likely to differ from those in the study.
Sweet solution?
The sugar is already known to be safe, so the next step is to test it on human patients, says Nukina.
But he cautions that clinical trials are needed to assess it before anyone attempts self-treatment.
Although rodent and human conditions share a similar genetic trigger, the protein clumps that occur in mouse brains rarely occur in human patients. So it's not clear how or if the sugar will affect the degenerating human brain. "The work is encouraging, but needs to be reproduced in other, better models of Huntington's disease," says Huntington's disease researcher Ray Truant from McMaster University in Hamilton, Canada.
Nukina thinks that the sugar works by getting into nerve cells, where it prevents the Huntingtin protein from forming aggregates. But there's no evidence that trehalose even makes it to the brain, counters trehalose researcher Fred Levine from the University of California, San Diego. The next step would be to prove this.
The sugar may be working in other ways. Some think that Huntington's disease occurs when the cellular powerhouses known as mitochondria pack up. Trehalose might act as an energy source for human cells, speculates Truant. Drugs that boost cellular energy are already known to be effective in mouse models of Huntington's disease, so trehalose may work in the same way.
Reference - Tanaka, M. et al. Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease.
Acknowledgement: Nature Medicine, published online, doi:10.1038/nm985 (2004).
Reprinted: "Gateway", Volume 7 No 1, January/February 2004, AHDA (NSW) Inc.
The Welfare staff has received several enquiries about In-vitro fertilization and exclusion of Huntington's Disease embryos. We include the following article to help explain the process involved, and not to endorse a particular service.
Preimplantation Genetic Diagnosis (PGD) for Huntington Disease using Grand Parental Exclusion
James Marshall, Sydney IVF, 4 O'Connell St, Sydney 2000
Primplantation Genetic Diagnosis (P.G.D.), (the genetic screening of the early embryo before it implants and in the uterus), is available to couples who have a family history of Huntington Disease (HD). The HD gene is on chromosome 4 and HD is an autosomal dominant disorder; meaning you only require the HD gene on one of the two chromosome 4s to be affected in order to get the disorder.
The PGD screening is available in two forms:
1. Disclosure, where one of the couple is aware they carry the Huntington Disease expansion, or
2. Undisclosure, (or (Exclusion), where any embryos who inherit the HD gene from a known affected grandparent are excluded, without knowing whether it is the affected or unaffected copy of the HD gene from the affected grandparent. Undisclosure is used when a patient whose parent is affected with HD does not wish to know their own HD status, but does wish to have a child that will not be affected.
What is PGD? PGD is a group of tests used with in-vitro fertilisation (IVF) to diagnose and exclude genetic abnormalities in the early preimplantation embryo. Embryos created using IVF are cultured to five days of development, the blastocyst stage, where 3-5 cells are removed from the outer layer (the trophectoderm - following transfer and implantation this layer forms the placenta).
The DNA is extracted from these placental stem cells and analysed to determine the absence or presence of the chromosomal region containing the genetic disorder. The analysis usually includes tests for both the mutation itself and for linkage markers, which are short identifying DNA sequences close to the gene or affected region. In some disorders, and HD Undisclosure is an example, the mutation itself is not tested for, only linkage marker testing is used, utilising linkage to the affected grandparent. In either case the reliability of the tests is usually about 99%.
After analysis an 'unaffected' embryo, that is an embryo with the desired genetics, is transferred to the uterus, and any spare 'unaffected' embryos are frozen for use in subsequent pregnancies.
The analysis for HD Undisclosure uses two to four polymorphic linkage markers (PLMs) situated close to the HD gene. PLMs are small lengths of DNA along the chromosome which may differ in size between chromosomes and between people.
They are used in forensics for DNA fingerprinting of a person's whole genome; we use them to build a mini DNA fingerprint around or close to a mutation or affected region. PLMs used must be informative for both of the chromosome 4 regions containing the HD gene from the affected grandparent.
The test for each PLM is multiplexed (that is made to work together) in a single test. That test is used on the extracted DNA from the 3-5 cells removed from each embryo and the absence or presence of the chromosome from the affected grandparent can be determined. On average one in two embryos will carry the chromosome from the affected grandparent and will therefore be excluded. The test takes about 4-5 hours to complete, unlike the standard diagnostic test for HD which is more complex and takes 1-3 days to complete, and an embryo can be transferred to the uterus the same day as testing occurs.
At Sydney IVF six couples have undergone stimulated IVF cycles with PGD to exclude Huntington Disease, with five having embryo transfers and four pregnancies. Three couples have given birth to five babies with one couple soon to give birth.
Further information can be obtained by contacting:
Mail: Sydney IVF, Level 11,
4 O'Connell Street, SYDNEY, 2000
Telephone: (02) 9221 5964
Email: [email protected]
Living Positively with HD
Presented by Dianne Harris at the National Huntington Disease Conference, Burnie Tasmania, November 2003.
Hi, my name is Dianne Harris,
I'm a wife, a mother, and I have a full time job. I also have the HD gene and I expect to have noticeable symptoms, sometime in the next two to three years. I've known since I was 14 that my grandmother had HD; since 21 that my mother had HD. When I was 27 I was tested for the HD gene and obviously I received the bad news that 'yes', I do have the HD gene. I'll let you in on a secret - I'm 38 now.
I'm not here to remind you the effect HD has on families - you've either lived it all via your family or your clients. I'm not here to ask for money or offer a cure. I'm not here to tell you the typical doom and gloom story about HD. I want to give you a different perspective.
I want to tell you I have never ever once regretted having my HD test and I want to share with you what HD has taught me and how it has made my life better. You might think it's unbelievable that I can say good things about having HD when I'm so close to being sick, but you might be surprised.
HD makes me SPECIAL. Everyone wants to be special, a unique & original individual. I'm special in a way that not many others are. We're all here at this meeting today because of people like me who are affected by HD. Now, it might not be special for something wonderful, but it's something!
My HD means I always have something to talk about because people find HD and the research fascinating. They love to hear about HD and then they tell me their problems. Have you ever noticed when you tell someone about HD, they tell you about the medical problem their family has and suddenly your problem doesn't seem so bad?
Because I have HD, I also get almost unlimited access to psychologists, psychiatrists, neurologists, dieticians, speech therapists, social workers, geneticists etc. I don't know about you, but I love to learn new things and these people are always very interesting people with a lot of information to share. Without HD, I would probably never have got to meet them.
Even better, I get full access to counsellors. This has been pure heaven! I've had 6 counsellors now, from the outstanding Sandy Taylor and Pam Marshall in the beginning ... through to divine Winsome and Viv today. I have loved meeting every one of these women. We regularly overstep the patient/counsellor boundaries, to the point where some counsellors have joked they wish they could resign before I became sick, because they can't bear the thought of seeing me get sick. I am very pleased to think of these people as being better than friends, because there is nothing they won't do for me, and they are always there when I need them.
Because of my HD, I've been involved in the HD support group. Over the past 7 years or more I've met a wonderful group of very funny people. Many of the invited speakers coming to our group expect us to be morbid and depressing. A guest speaker even once asked Pam's advice about what topics he should avoid so he wouldn't upset us. She happily reassured him nothing was taboo. At the end of the meeting, he told her, he had never met such a happy bunch of people and he had a new appreciation for life.
Because of HD, I think I have my life worked out. I know no one is born with a guarantee of 80 years or more of life and good health. You could be hit by a bus tomorrow, or you could get cancer and die. I'm luckier than most, because I get an advance warning that I'm going to die early. I have my death sorted out. I will leave my family financially well off, with a Will, Power Of Attorney and Enduring Guardianship order in place. I have made sure everyone knows I love them.
Many people wonder about the meaning of life, they question what their role in life is and will they make a difference. I don't have to ask these questions, as people tell me I have already made a difference.
I don't treat HD as a social disease, and keep it behind closed doors, like some shameful secret. I tell everyone! I would have directly told about a thousand people about HD including the hundreds of people I work with and everyone I meet. Bit by bit, people are becoming more aware and knowledgeable of HD. In addition, I've also been on television three times, including local TV and 'A Current Affair', raising the profile of HD.
I get to experience and contribute in new situations, like giving this speech and participating in research. I participated in Sandy Taylor's discrimination research. My husband and I just came back from Melbourne where we completed the first stage in the PREDICT-HD research study group. It was wonderful fun (well, maybe not the MRI).
My children have rewarded my open attitude to HD. I have three teenage sons, aged from 13 to 17. I've always told my children everything about HD and never kept my or their own risk factor a secret from them. They don't remember a time when my mother was well; they can only remember her with varying degrees of symptoms. They remember when we all went shopping together, it wasn't my two year old that threw a temper tantrum demanding I buy something, it was my HD affected mother! They've seen her need help to shower, eat & dress. They've seen her behave inappropriately and violently. At present, they see her unable to recognise them and be unable to communicate with them. They've never judged her harshly or tried to hide her, they just accept her completely.
My eldest hates being the centre of attention so much, he would have a panic attack if he had to go on stage to collect an award and he never puts his hand up in class for fear he might be laughed at. But this child stood up in front of his peers and told them all that he had the HD gene in his family, when his teacher enquired if anyone knew anything about HD. I am extremely proud of him. My second child had been dating his first serious girlfriend for several weeks and we told him he would need to tell her some time about HD and we would help him if he needed. My son happily reassured me he'd told her about HD 'months ago' before they'd even started dating. All three of them tell everyone about HD, with no sense of shame or embarrassment. They know I'm about to show symptoms and they know what that means. They accept it with an admirable maturity. I'm very proud of them.
My HD status has proven to me that in general, most people are sympathetic and helpful with a genuine desire to do the morally right thing. Of all the people I have told no-one has ever responded badly. Twice people have referred a third person to me to give them info about HD.
I work as a policy consultant for Centrelink and I work alone with no-one to check my highly specialised and complex work. My replies to queries directly affects the payments welfare clients receive. I've discussed my HD status with Centrelink management and they have risen to the occasion brilliantly and perfectly. They have no intention of demoting me or refusing to promote me. We have a very rational plan in place to manage the situation as I approach, and reach, the time my symptoms will appear. My HD counsellor, Winsome, was invited to participate in the discussion. In addition the staff have provided an enviable support network for me while I was having the test and ever since. Only this week a colleague stated how hard it will be for them to see me go from the seemingly competent person I am now to having to leave work due to HD.
As I mentioned before, I've never had bad feedback from a person. Ironically the only bad feedback I received, was from a medical board - the Red Cross refused to take my blood because I had the HD gene. It happened just after I started work with Centrelink. I don't know how much you know about Centrelink, but one of the most common phrases used with clients is "if you don't agree with the decision, you can lodge an appeal against it". It's drummed into us constantly. So when the Red Cross doctor rang to advise me of their decision, I just automatically said "You're wrong and I want to appeal that decision". I reminded him that even if I had sex with him, traded blood with him, or if he grew in my womb - I couldn't give him HD. As you know, the only way I can give him HD, is if he gets my DNA by growing from my egg. I'm pleased to say they changed their decision and I received an apology.
I don't need to tell anyone here, that HD isn't all good. It has many terrible, challenging issues, such as fear for our children's future, fear for our own decline, fear about the nursing home - add to this our pain at having a lesser life span, a reduced quality of life, and no dignity in our death, it's the stuff horror stories are made of. But there are worse things than HD:
" l think, having a child die or be severely disabled is worse than HD
" l think having a family member commit suicide, without leaving a note is worse than HD
" I think watching the person you love die in front of you and be unable to help them is worse than having the HD gene.
My family life with my parents and siblings is like a bad soap opera, one melodrama after another ...domestic violence, family feuds, divorce, aborted and complete suicide etc. These are the things I consider to be the 'difficult problems' in my life. The things that could have been prevented. The worst thing that ever happened to me was when someone I loved and trusted took my mother out of the nursing home to see if he could go through with a murder/suicide plot. That person returned my unharmed mother to the nursing home but rang to 'reassure' me he could do it, then just hung up, and left me to clean up the mess! Whenever something bad happens to me now, I compare it with that event and say ... well if I can survive that, I can survive anything. Trust me, HD is nowhere near as bad as that.
However, for all the bad things I've experienced I still count my blessings everyday. I have a husband I'm completely besotted with, three wonderful, healthy children and the most wonderful friends. I've been with my husband for 22 years and I still get goose bumps when I see him, we still sleep holding hands. It still makes my day when I see him drive by unexpectedly. If I see him park his bus, I'll still chase after it to get a kiss. (My friends just laugh at how pathetic I am to chase buses). I see the women around me and I know that what I have is very unique and special and I DO treasure it. My children are three strapping, healthy lads who also enrich my life immeasurably.
Dr Karl Kruszelnicki once said, "Imagine you have just been told you have three weeks left to live. Then try and work out what you would do in those three weeks. Whatever your answer is, is the thing that's important to you". My family is the thing that's important to me. Surprisingly, no one mentions working overtime for their boss.
I don't hate having HD. If I had a choice, I wouldn't have it, but as I don't have that choice I just accept it. HD is going to steal half of my life, so I refuse to give it the other half by being depressed and worrying. There are only two things that really annoy me about HD: a) I wish I could grow old with my husband; and b) HD will take the best years of my life.
As you know, the life cycle of the parents is to work hard and scrimp and save so you can afford to raise your children. The children's needs are invariably put first. However, eventually, the children are supposed to leave home leaving the parents free to concentrate on each other again and many parents choose this time to travel. I wish I could have that time with my husband.
It seems to me women spend their twenties trying to be everything to everyone; in their thirties they work out what they want for themselves; in their forties they go out and get what they want; and in their fifties they enjoy having it (and no doubt enjoy it even more because they finally don't have to share it with their kids)! My life keeps getting better as I get older. I feel more confident and in control. If I feel this good at 38, I imagine 48 must be even better.
So, in closing I would just like to say.
" No one is perfect. Everyone has problems and by sharing stories we get a better perspective on our own problems. A problem shared IS a problem halved.
" Problems that don't kill you, WILL make you stronger.
" Life DOES get better as you get older.
" Challenge discrimination - don't let it stand.
" There is more to Dianne Harris, than just HD.
" Have faith that mine is the last generation that will have HD.
" Try and laugh as much as possible. Exercise your mind.
" If you're unsure if you want the HD test, then give yourself permission not to have it. The permission can be temporary or permanent.
I can't control my HD. There is nothing I can do to affect it. The only thing I can control is my reaction to it. I refuse to let HD destroy any of my precious time before the HD symptoms appear. Thank you, for listening.
Because I'm a public servant any public speech I make has to be approved by the manager. My manager read my speech and was so moved by it he has sent it to the entire Centrelink network (with my hesitant approval). Many of these people are now sending it onto their friends and colleagues. I'm getting lots of supportive emails. I have to say this speech (my first) has been a wonderful experience. Dianne Harris
Acknowledgement: "Contact" Vol 6 Issue 19, December 2003, AHDA (Inc) WA
Reprinted: "Gateway", Volume 7 No 1, January/February 2004, AHDA (NSW) Inc.
Life Reviews are OK
By Counsellor and Trainer, Ken Warren
Almost twelve months ago, I became a little more conscious of getting older, having turned forty. It is one of those milestones where people take stock of how they are living their life. Some people decide to make dramatic changes based on what they discover about themselves. It is strange how we can sometimes live our lives in ways not consistent with how we really want to live.
Many people work long hours providing for their family. Yet if you ask them if this is really how they want to live, they will often say it is not. They say what they really want is to spend more time with their loved ones, to relax, to be more fit, to have more inner peace, and to have more fun. Though all of us have responsibilities, we also have choice about how we choose to live within these boundaries.
For me, my aim this past year was to work fewer hours and to be more fit. Though I have not been perfect, I have been able to largely achieve my goals through making time for cycling. By choosing to do more exercise, I was able to spend less time on my work, feel more relaxed, and feel greater balance in my life. Which is just as well, because there is nothing worse than seeing a stressed-out counsellor.
This time of year is a good time to review how you are living your life and to consider the following questions. Are you living the life you really want? Are you doing what it takes to develop more quality in your living? What changes do you need to make to better live your life? We only have one shot at this life. We may as well make the most of it.
We all have slightly different pictures of what makes a life lived well. I think life is too important to be taken too seriously, to be consumed by ill-feeling towards another, or to live our lives out of balance. For me, it is especially important to connect well with my loved ones. Whatever challenges life throws your way, make a decision to live your life well and to live it fully. That continues to be my goal for the coming year.
About the Author - Ken Warren (BA M Soc Sc, CPC, AAMFC QCA) is a Certified Professional Counsellor in private practice on the Sunshine Coast (Qld). He can be contacted on (07) 5443 7626 or through his email address: [email protected]
Questions and Answers Page
Question: Trips and slips seem to be on the increase with my S.P. spouse. Are there any ways to stop these happening or preventing things getting worse?
Answer: Like everyone S.P. will experience some trip or slip in a variety of circumstances and for a variety of reasons. It could be that tripping is the result of loose mats, a bump in the footpath, uneven surfaces or various obstacles like a cat. Mostly people who have no impairment of movement, vision or balance reactions recover their equilibrium and carry on regardless of the trip, slip or misjudged step. A person with HD may not have the same speed of automatic reaction time and so the event is more noticeable and probably the events are more frequent.
Distraction from the activities related to "walking" may reduce the brain's capacity to process the information needed for the body responses to react quickly enough. So the obvious strategy is to reduce "multitasking" while walking - that is to e.g.: not talk and walk, not gaze about and walk, not carry objects and walk etc.
To slow down "things getting worse" the best advise is to keep S.P. using the muscle groups needed for walking and strengthening them if possible. A physiotherapist may be approached for individual advice. One small word of caution, though, is that if S.P. was fatigued at the time of trips and slips, then that is an indicator to rest more and pace all walking activities.
Question: I dearly love my family and S.P. We have faced many difficult times since the HD diagnosis which came well after our marriage and bringing up young children. I like to think that I am the "strong" one emotionally and will cope with the responsibility of keeping the family together through HD as it might turn up.
We all supported our first adult child through the predictive testing process, but it was so hard and thwart with unforeseen predicaments and emotional turmoil. This all tested our feelings, behaviour, various beliefs and faith. But as more of the adult family gets tested, I really am feeling less "strong". For them I need to hold it together, but for me, oh is it getting tough. What can I do?
Answer: Probably by writing in, you feel some relief. The act of writing down your feelings and experiences either in a private "journal", letter or to someone in itself can be therapeutic. Well done.
By also confiding in a friend, Field Officer, counsellor or advocate you may also clarify your own emotions, feelings, needs and options. All very important in order for yourself to as you say "cope with the responsibility of keeping the family together". But maybe you are taking on more responsibility than your family would expect? Your needs and ways to keep being a spouse, parent and possibly a grandparent you will know. Please keep your own perspective and share the responsibility with all the family as you all live with HD into the future.
Getting tested perhaps has greater, wider and deeper implications all round than what the literature and individuals indicate. Stay with your experiences and endorse your family values, strengths and collective resolve. May you all retain hope and find plenty of joy along the way.
Question: What can I, my brothers and sisters do about being at-risk of getting HD? We do not want to get tested while there is no cure.
Answer: The medical researchers are yet to come up with definite answers of how best to protect yourselves from what genetic inheritance you each have been living with since birth. Perhaps the approach we can recommend is concerning how each of you choose to live your lives. That is keeping a balance of mental, physical and spiritual wellbeing. Our bodies require some basics: sleep, water, nutrition, shelter, love, "doing", nurturing etc. to develop in a healthy and meaningful way. Therefore keeping ourselves fit, healthy, satisfied etc. is always an important and not always easy goal for living.
You may wish to seek other advice from the many "alternative health" or self-improvement services which hold interest for you. But at this stage we do not advise paying big money for "unproven" interventions.
Also keep up with research developments as new genetic knowledge expands. Best of all support yourselves and share what you know, learn and discover.
Reprinted: "Huntington's News, Issue 84, March 2004 - Huntington's Disease Associations of New Zealand.
Pharmacists: the hidden gurus
Pharmacists in chemist shops are often the most easily available health professionals. However most of us don't make the best use of them. This is probably due in part to our lack of knowledge about them. So, what training do they have, what can they do, and how can we use them?
Training - Community pharmacists (those that work in chemist shops or pharmacies) undertake extensive training. Firstly, they complete a four-year pharmacy degree. Then, they work under the supervision of an experienced pharmacist. Lastly, they do an exmaination. Pharmacy training covers all aspects of medicines: chemistry, how they work, side effects, interactions with other medicines, and role in treating disease.
Expertise - Pharmacists have a wealth of knowledge about medicines, so they are valuable sources of information. You can ask them any questions you may have about your medicines, especially your prescription medicines. For example, you might want to know how your medicine works, its side effects, when and how to take it, and what to expect when taking it. You can also ask them for the CMI (Consumer Medicine Information) leaflet for the medicine, so you have the information on hand when needed.
Understanding the ways medicines interact with each other is a skill of pharmacists. You can ask them if any of your medicines may interact with each other, and what to look for if they do. Pharmacists are experts on managing medicines. Tell the pharmacist if you are having any problems using your medicines, such as difficulties reading the label, getting the medicine out of the container, or using your asthma puffer. They may be able to solve the problem. For example, they may be able to print out a label with large type, or put the medicine in a container you can open easily. If necessary, they can contact your doctor to discuss the problem and find a solution.
Pharmacists know quite a bit about common minor illnesses and the over-the-counter medicines that can be used to treat them. If you have minor symptoms, they can help you choose a treatment and advise you how to use it. They will also advise you to see a doctor if your symptoms suggest something more serious. Some pharmacists have done special training that allows them to conduct Home Medicines Reviews in conjunction with GP's. A Home Medicines Review is a check of all your medicines to make sure you are getting maximum benefit from them. You can obtain information about Home Medicines Reviews from your pharmacists, GP or the PBS Information Line on 1800 020 613.
Pharmacy assistants - Pharmacists often have one or more pharmacy assistants working in their shops. Pharmacy assistants help pharmacists by serving customers, accepting and returning prescriptions, and directing customers to the pharmacist. They are qualified to provide only limited information about medicines. If you need information about prescription medicines, they will refer you to the pharmacist. (There is at least one pharmacist on duty when a chemist shop is open.)
Ask - Pharmacists are highly trained professionals who know a lot about medicines. If you want information or advice about medicines and how to use them, seek out your local pharmacist and ask any questions you may have.
Acknowledgement: "Medicines Talk" Information for Consumers and Consumer Organisations, No. 8, Summer 2003.
FUNDRAISING
Community Assistance - We have received, and gratefully acknowledge major financial assistance from the following donors:
B. Gillespie
I.M. Hedlefs
K. Horton
J. Lawrence
S. Lennon
C. Maxwell
The Movie Night was enjoyed by more than 50 people who turned up for this open air feature. Fortunately the rain held off until just after most people had made their way home. Thank you for your participation - as well as a great social event, the Association raised in excess of $400.00.
Upcoming Events
Rotary Raffle - As in the past, this raffle will be held in conjunction with the Rotary Club of Acacia Ridge. The prize includes a trailer packed with electrical equipment and other items. Total value of $3600.00. Tickets are $2.00 with $1.00 going to the Association for every ticket sold. To ensure the success of this raffle, we need your assistance in selling tickets. Please contact the HD Office for tickets and/or books of 10 tickets.
The Sausage Sizzle at Bunnings, Cannon Hill will be under way as the Newsletter goes to print. Let's hope the weather is kind to us.
The following Community Groups have donated to the Association in recent times:
Ipswich and Goodna SES - You will recall from the February edition of the Newsletter that the Ipswich and Goodna SES donated in excess of $1100.00. This group has since topped that up with an additional $362.00. This is an amazing effort from a group that also relies on community support. Once again many thanks to all those involved.
The 000 Charity Motorcycle Ride - In February, Tony Seitz of the 000 Charity Motorcycle Ride contacted the HD Office with the great news that he and his fellow firemen, Mark Gosney and Ian Skyring were going to donate $1000.00 of their Charity fundraising activities to the HD Association.
This type of unexpected generosity and assistance is quite amazing and really boosts the morale of staff and Committee members in their quest to raise much needed funds. Our sincere thanks to Tony, Ian and Mark.
Rotary Club of Brisbane North - We are also thankful to the Rotary Club of Brisbane North for their donation of $750.00. These funds have been allocated toward the purchase of 2 therapy chairs and equipment such as cricket sets for use in the Day Respite Program, Respite Holidays and the Young Men's Group outings.
Many thanks to the Club for their generosity - your financial support provides the Association with the opportunity to purchase items that would be out of our budget, but enhances the programs we offer to clients.
Annerley Friendship Club - Early this year the Annerley Friendship Club invited Gwen to be guest speaker at one of their weekly meetings. Club members made Gwen very welcome and were interested to learn a little about Huntington's Disease and the services we offer to families.
The Club is not a fundraising group, however they very generously donated $100.00 to the Association. We are very grateful to them for their support. The Club meets just up the road from the HD Centre and we hope that members will visit us from time to time for a cup of tea and a look around our centre.
Through our Awareness Campaign, Huntington's Disease is gradually becoming better known in the community and this leads to the type of financial support we have received in the early part of 2004. If you or your friends are associated with a service club and you think it would be beneficial to have a Welfare staff member attend a meeting as a guest speaker, please contact Gwen at the office. If it is at all possible, she would be happy to attend.