Vol 6 No 3 September 2004
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,
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
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
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
different forms of Alzheimer’s disease.
Rob Crouch The dilemma of people with a diagnosis of
dementia continuing to drive is one that surfaces
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
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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
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
Best wishes, Anna. May the next phase of your life
NEST on line at bring you much joy!
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
Every individual will have different reasons for
considering genetic testing. If I had not been
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
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
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
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
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.
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
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
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.
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.
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
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
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
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
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
NEWSLETTER OF THE EARLY STAGE DEMENTIA NATIONAL NETWORK – 8