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    • Vol 6 No 3 September 2004 ETHICAL ISSUES Genetic testing for familial Alzheimer’s disease— one woman’s story Every person’s For me, having the knowledge which would experience with allow me to prepare myself and the people I Alzheimer’s disease is love for what might lie ahead was important. different. In writing these To be able to plan my future, and to not have words, I hope to offer a regrets about what might have been done personal perspective on differently, this was important. some of the issues that When someone told me about the possibility arose for me as the of undergoing genetic testing for familial daughter of someone Alzheimer's, I remember dismissing the thought who has familial as being almost absurd. At the time, I was so Alzheimer’s disease - and who has been focused on trying to deal with the reality of through the process of genetic testing. my mother’s condition that the idea that I Why did I choose to undergo the testing might also be affected by this disease did not process? My reasons have been shaped by a seem even remotely possible. It was not until I myriad of experiences, but the answer is started thinking about wanting to have actually quite simple. For some, “ignorance is children of my own, that I began to give bliss”, but for me, “knowledge is power”. serious consideration to the idea of genetic testing. I realised that if there was a possibility I My mother’s condition was misdiagnosed by might be affected, health care then any children I professionals for so To be able to plan my future, and to not might have would many years that by the time we knew have regrets about what might have also be at risk. I what was actually been done differently, this was important. was told that in my particular situation, happening to her, it if I myself had was too late to make any real changes to the inherited the disease, there was a fifty percent quality of her life. My family and I struggled to chance that each child I gave birth to would deal with scenarios that we never envisaged also have familial Alzheimer’s. ever having to go through, and we did the best we could. But there is no doubt in my To have the knowledge that I could possibly mind that had we known sooner what we pass this disease on to my children, this was were facing, we would have done things very important. I also believed that my partner at differently. (Continued on page 3) NEWSLETTER OF THE EARLY STAGE DEMENTIA NATIONAL NETWORK – 1
    • This newsletter is funded by the Australian EDITORIAL Government Department of Health & Ageing under the Early Stage Dementia This edition of NEST continues the Support and Respite Project theme of ethical issues with some difficult questions with no easy answers. Genetic testing is available for familial Alzheimer’s disease. Given that there is no treatment yet, An Australian Government Initiative would you want to know? We hear from someone who has undergone the testing process and look at the role of genetic testing for Editorial Committee different forms of Alzheimer’s disease. Glenys Badger Rob Crouch The dilemma of people with a diagnosis of Anna Sarre dementia continuing to drive is one that surfaces Reagan Shandler Paula White continually, causing much heartache. This problem and some help in making decisions feature in this issue. Alzheimer’s Australia SA Inc 27 Conyngham Street Would you prefer to receive your copy of NEST Glenside SA 5065 Ph: (08) 8372 2100 electronically? Fax: (08) 8338 3390 To receive NEST via email in pdf format please E-mail: alzsa@alzheimerssa.asn.au www.alzheimers.org.au send an email to paula@alzheimerssa.asn.au. Alzheimer’s Australia SA Inc is not liable for any You will then no longer receive a paper copy, but error or omission in this publication. Articles please allow a little time for this to take effect. In provide a general summary only of the subject addition you will be able to view the most recent matter covered and are not necessarily the copy of NEST on the Alzheimer’s Australia website. views of Alzheimer’s Australia SA Inc. Permission should be sought from the Editorial Committee before reproducing articles. Once permission is given the source must be acknowledged. On a more personal note, twelve months ago we farewelled Anna as she moved from her role as National Core Programs Specialist to a new role working with carers of people with dementia Index living at home. Anna has been at the forefront of Editorial 2 the development of groups for people with early Driving 4 stage dementia in Australia and implementing Genetic Testing—Yes or No? 5 the Living with Memory Loss project. Book Review 6 Now Anna is to take on yet another role. She and Meaningful Accomplishment 6 her husband Andrew are expecting a baby and Anna will be on leave from the end of Driving Agreements / Help Sheets 7 September. Best wishes, Anna. May the next phase of your life NEST on line at bring you much joy! www.alzheimers.org.au Glenys Badger for the editorial team NEWSLETTER OF THE EARLY STAGE DEMENTIA NATIONAL NETWORK – 2
    • GENETIC TESTING FOR FAMILIAL ALZHEIMER’S DISEASE CONT’D (Continued from page 1) considering the time had a right to know that if we had decisions that children together, they could also be may have life affected. I could not responsibly consider changing having children without knowing whether or consequences. If not I would be risking their lives. an individual decides to Every individual will have different reasons for proceed with considering genetic testing. If I had not been genetic testing, thinking about starting a family of my own, I a diagnosis of may not have felt as compelled to proceed Alzheimer’s disease means you can never go with the test. Some people will decide that back. You will always have this knowledge, it they would rather not know. will be with you for the rest of your life. What The world we live in today is one of you do with this knowledge is up to you. technological genius. The ability to have our I will be thirty-two this year, and I do not regret genetic makeup tested for inheritable my decision to seek the answers to my own diseases such as Alzheimer’s and Huntington's questions, to have the knowledge to make life provides us with scientific and medical choices with a clear understanding of the knowledge inconceivable just a few years implications for myself and others. But that ago. But are we equipped to deal with the was only my choice. consequences of having this information? While research and development in the areas To protect her privacy the name of the South Australian of genetic biochemistry continue to take author will remain anonymous. quantum leaps, there are moral and ethical questions that have arisen as a direct result of these developments. Do we really want to know what is in our blood? What will we do with this knowledge? Will it empower us to make the most of our lives or will it disable us with fear? Do we really You can’t imagine how much I believe that our lives and who we are as worry about work and about human beings can be entirely determined by losing the job I love. I can’t our genetic chemistry? conceive of doing anything else When I began to consider genetic testing, I but this work. I have to be careful was twenty-eight years old. I had never really who I talk to about this given much consideration to the above Alzheimer’s gene, because I questions. Four years later, I cannot say that I could lose my job. If they find out, have found all of the answers. My decision to they will be really nitpicky. I know proceed with the test was the hardest that, eventually, they’d get rid of decision of my life. But knowing for me was me. the only way that I could move forward. Speaking Our Minds: personal It is not my intention to influence the decisions reflections from individuals with of others who might be considering this option Alzheimer’s, for themselves – I believe the choices we Lisa Snyder, LCSW, WH Freeman and Company, New York, make should be our own. I do want to 1999, p141 emphasize, however, the importance of seeking appropriate counselling when NEWSLETTER OF THE EARLY STAGE DEMENTIA NATIONAL NETWORK – 3
    • DRIVING Many people with a diagnosis of early diagnosed has an opportunity to adjust to dementia have told me of the ambivalence changes and make sense of their experience. they feel when their driving abilities are There can be a significant sense of loss at this brought into question. Different people are time which impacts on the person with affected differently by dementia, and this dementia and their family. The group results in there being no uniform time after a suggested a window of six months would give diagnosis that people with dementia will be a person enough time to integrate the unable to manage driving. Consequently, meaning of the diagnosis before looking at giving up driving, being safe on the roads and driving ability. It was acknowledged that this discussing driving abilities can become approach may not work in all circumstances potential ethical dilemmas for people with but would be a way for a person with early dementia, their families and the dementia to maintain a sense of self during a community. Timing the restriction of one time of change. person’s right and freedom to participate in The group also discussed the value to a person an activity she or he has done safely for many with dementia of surrendering their licence years can be a difficult and challenging call to before they are asked to ‘hand it in’ by make. someone in a position of authority. By making What strategies can be employed to navigate an active choice in this process the person this potentially difficult terrain of driving and with dementia maintains some control and dementia? determination over their life. In a recent seminar in Adelaide titled Driving How the potential ethical dilemma of driving and dementia—the double edged sword, the and dementia is managed within the presenter discussed the policy adopted in community and family can impact on a California to manage this potentially difficult person’s sense of self to a greater or lesser mix. In that state of America, as soon as a degree. In the face of many and ongoing person is diagnosed with dementia, their changes, approaches to driving retirement driving licence is revoked and they are that respect and give ownership of the obliged to sit an examination on their driving process to the person with dementia must help abilities if they want to continue driving. maintain families’ strengths and coping abilities. This point became the focus of discussion amongst people with dementia in a recent Rob Crouch advisory committee meeting in Adelaide, Alzheimer’s Australia SA where the topic of driving was on the agenda. The group adopted the position that some sort of assessment of driving is important after a person has been diagnosed with dementia, The key topic for the next newsletter is and that there should not be barriers to the availability of such an assessment. difference and diversity The group explored two aspects. Firstly, that We welcome your feedback on this people with dementia, as members of the edition and your contribution on this community, have a responsibility to be safe topic or any issue on early stage road users, able to manage the differing dementia you would like to share. conditions on the road without being at risk to themselves and the community. An Please email, fax or post assessment could determine their abilities. your article by 25 October 2004 Secondly, after receiving a diagnosis there needs to be a period of time when the person NEWSLETTER OF THE EARLY STAGE DEMENTIA NATIONAL NETWORK – 4
    • GENETIC TESTING—YES OR NO? At present there are increased risk, but does not predict whether two main areas of they will definitely develop the disease. One knowledge study showed that even among those who regarding genetics lived to be 100, 28% did not develop and Alzheimer’s Alzheimer’s even though some carried one or disease. two copies of the ApoE 4 gene type.1 Firstly, Familial At present, ApoE testing is not considered Alzheimer’s Disease clinically advisable given its limitations. (FAD) has been Other ethical questions around genetic identified as a genetically inherited disease. testing for Alzheimer’s include the risk of This is a rare form of younger onset Alzheimer’s discrimination in employment or insurance if disease, predominantly affecting people in someone has a positive test result. Also, for their 40s or 50s. FAD is caused by a specific, example, there is the risk of a person with identifiable gene and it is possible for a test to early symptoms of dementia being too definitively say if a person is carrying this gene, quickly diagnosed with Alzheimer’s if known to in which case they will develop Alzheimer’s carry the ApoE 4 type gene, rather than other disease. If a parent has the gene, each child possible causes of those symptoms being fully has a 50% chance of inheriting it. examined. As outlined in the previous article by a young Genetic counselling is vital for someone woman whose mother has FAD, there are thinking about genetic testing for Alzheimer’s many ethical considerations in deciding disease, to help with considering the whether or not to have this test. Some people implications, risks and limitations of the decide to proceed with the test if they feel proposed tests. Confidentiality of test results knowing is important in making decisions and must also be assured. planning for their future. However, as there are currently no known preventative As research continues, genetic testing may measures, some people feel the benefits of become a more prominent option for the knowing are not strong enough to proceed. general population and for people with some This is a very personal choice for each family history of the disease, particularly if individual faced with such a decision. preventative measures are discovered. And for now it is a very real and challenging In the rare cases of families affected by FAD, consideration for those with FAD evident in there is usually evidence of several their family. generations affected by the disease; family members show a similar age of onset and If you, or someone you know is considering duration of the disease and around half of the genetic testing for Alzheimer’s disease, your children of an affected person have or will state/territory office of Alzheimer’s Australia develop the disease. can assist with information about genetic counselling availability in your area. The other main area of knowledge regarding genetics and Alzheimer’s disease is less Anna Sarre definitive. There is a gene on chromosome 19 Alzheimer’s Australia SA which codes for Apolipoprotein E. It comes in three types (2, 3 and 4). It is the ApoE 4 type which causes greater risk of developing 1 Khachaturian, A S et al Apolipoprotein E4 count affects age at onset of Alzheimer disease, but not lifetime susceptibility: The Alzheimer’s disease at a later age (over 65 Cache County study. Archives of General Psychiatry 2004; 61: years). Whilst it is possible for a genetic test to 518-524. indicate if someone is carrying the ApoE 4 type, this will indicate whether the person is at NEWSLETTER OF THE EARLY STAGE DEMENTIA NATIONAL NETWORK – 5
    • BOOK REVIEW Speaking our minds: For Betty, the first step was to personal reflections from individuals with acknowledge the diagnosis to Alzheimer’s herself. Snyder comments that Lisa Snyder, LCSW people may be reluctant to W.H. Freeman and Company, New York, 1999 disclose to others as they have bleak images of advanced Lisa Snyder has worked with families at the Alzheimer’s and there is still a sense of stigma Alzheimer’s Disease Research Centre, attached to the disease. How to go about University of California, San Diego and disclosing the diagnosis is another issue. It isn’t publishes Perspectives: a newsletter for obvious like a physical ailment, so should you individuals with Alzheimer’s disease. tell everyone or wear a sign? In this book Lisa talks to seven individuals The last interview is with Consuelo who at the about their thoughts and feelings about living age of 33 has undergone predictive genetic with Alzheimer’s disease. This is interspersed testing for a rare form of familial young onset with her own thoughts and observations. Alzheimer’s. Her test was positive and While each story is unique, together they give indicates she is likely to develop the disease. insight into the way people deal with the Whether to have testing and the implications diagnosis and the changes it makes to their of this are discussed. lives. This book will be particularly useful to those While not minimising the effects, the accounts who work with people with dementia and give a positive portrayal of life in the face of their families, as it gives an insight into the personal losses. “It is about people who are lives of those affected as well as a defining themselves and a disease in new commentary from the author’s perspective. It ways, not only by what has been lost but also is easy to read and very informative about by what is enduring.” (p.11) issues involved. Meaningful accomplishment Sometimes it’s easy to get carried away with our so- many people would point to their photo in the paper called accomplishments. We spend our lifetimes as being a great accomplishment, but wouldn’t collecting achievements, earning praise and necessarily think of ‘staying centred’ as an recognition, and seeking approval—so much so that accomplishment at all. Where are our priorities? we lose sight of what is truly meaningful. If being peaceful and loving are among your primary If you ask the average person, “What is a meaningful goals, then why not redefine your most meaningful accomplishment?” the typical responses will be things accomplishments as being those that support and like, “Achieving a long–term goal”, “earning lots of measure qualities such as kindness and happiness? money”, “winning a game”, “getting a promotion”, I think of my most meaningful accomplishments as “being the best”, “earning praise”, and so forth. The stemming from inside myself: Was I kind to myself and emphasis is almost always on the external aspects of others? Did I overreact to a challenge or was I calm life—things that happen outside of ourselves. and collected? Am I happy? Did I hold on to anger or Certainly, there is nothing wrong with these types of was I able to let go and move on? Was I too stubborn? accomplishment—they are a way of keeping score and Did I forgive? These questions, and others like them, improving our circumstances. They are not, however, remind us that the true measure of our success comes the most important types of accomplishment if your not from what we do, but from who we are and how primary goal is one of happiness and inner peace. much love we have in our hearts. Seeing your photograph in the local newspaper may Quote from: Carlson R (1997) Don’t sweat the small stuff. . . and it’s all small stuff, be a nice thing to achieve but isn’t as meaningful as Bantam: Milsons Point, Australia and Hyperion, New York, USA, p215-216 learning to stay centred in the face of adversity. Yet NEWSLETTER OF THE EARLY STAGE DEMENTIA NATIONAL NETWORK – 6
    • DRIVING AGREEMENTS HELP SHEETS Driving Agreements and Transportation There are two Helpsheets Plans available from Alzheimer’s Australia on A person with a diagnosis of dementia may be the topic of driving. One unaware that their skills are deteriorating and is written for people living unable to realistically assess their abilities. with dementia – About Those concerned, namely the person you…Driving and themselves, family members and other health Dementia, Information for professionals need to work together to monitor people diagnosed. The other is written for and regulate driving to ensure the safety of all family members/friends – Driving, Caring for road users. someone with A family member can go for a drive with them dementia. Both provide and look for any warning signs, or friends and clues about indicators passengers can be quietly asked to keep a which suggest the watch out as well. person’s ability to drive Warning signs could include: may be affected. They also outline options for • not obeying road signs addressing the issue and • driving too fast or too slowly describe alternatives for • not noticing other cars or pedestrians when driving ceases. • getting lost on familiar routes These Helpsheets, along • being tooted often with the whole range • slow reactions to driving situations available can be accessed via the website: • making poor decisions. www.alzheimers.org.au, your local Alzheimer’s Australia office or the Dementia Helpline on It is a cause for real concern if there are: 1800 639 331. • near misses or minor dings (have a look at the car in case the person hasn’t noticed) • tickets for violations, or if the person is pulled over by the police. taxi services. Good communication is important. Talk to the Some councils person about your concerns. Choose a good even run time and be as gentle as possible. Listen to programs to them and their concerns as well. familiarise people with They may be ready to make a driving using public agreement – a formal agreement in which the transport. person with dementia designates a family member or friend to tell them when it is no A sample longer safe for them to drive. This person will ‘driving agree to help the person at this time to make agreement’ the transition to driving retirement. can be found at It may be possible to make a transportation www.thehartford.com/alzheimers/ plan, working together to give the person with agreement.html dementia a sense of ownership about what is happening. It will aim to list alternative means Reference: Driving and the Person with Alzheimer’s disease of transport, e.g. asking friends, neighbours The Fisher Centre for Alzheimer’s Research and relatives if they can help with rides, finding Foundation 2004 out about community transport schemes and NEWSLETTER OF THE EARLY STAGE DEMENTIA NATIONAL NETWORK – 7