Living with Huntingtons Disease
Case Study 3
A Positive Family Story
Case Study 1 |
Case Study 2 |
Case Study 3 |
Case Study 4
A first heard that Huntington's disease was in her family when she was
in her 30s and was already married with three children. Both her mother and a cousin had
Growing up with a mother whose health was deteriorating and whose behaviour was
unpredictable was distressing. No one in the family knew what was going on, her
mothers behaviour caused all sorts of ructions and the family used to cover up for
her as best they could. A was puzzled at the change in her relationship with her
Although A knew for years that she was at risk of Huntington's disease, she
didnt rush to take the predictive test as soon as it became available. Instead, she
considered her decision for over a year before finally deciding to take the test for a
number of reasons: her children were getting to the age where they needed to make
decisions about their lives; she herself was at a point where she had to make decisions
about her own career; and she could no longer stand the uncertainty. She wanted to be able
to get on and plan her life.
She talked to her husband, all three of her children, her father and her in-laws before
deciding to take the test.
As husband accompanied her throughout and she obtained all the information
she needed through the Huntington's Disease Association. For most of the process, A
had no expectation one way or the other about the result, but immediately before she
received her result, she thought, perhaps hoped, it might be negative. In fact her result
was positive, she is carrying the gene.
Both A and her husband were satisfied with the predictive testing process. A
was glad that she had gone through it but receiving a positive result was like being
kicked in the guts from top to toe. She felt sadness, grief, guilt and relief
but no anger, only acceptance. Her husband felt sadness but also some anger as well as
acceptance. Unlike his wife, he felt no guilt, no relief and no grief.
Two years later, after making changes in her life As feelings are still
the same except that she also experiences joy as she makes the most of every day. Two
years later, her husband still feels some anger and sadness as well as relief. He now
accepts the situation but feels neither joy, grief or depression about it.
Over the last two years, both A and her
husband have realised that Huntington's disease is only one obstacle in life and that
their life has not changed as much as they had expected. A now appreciates life
more and thinks more deeply about things. Both she and her husband try to keep their minds
and bodies healthy and active and neither of them have any regrets about the choices they
have made. A only thinks occasionally about Huntington's disease, her husband
thinks about it about once a month. Because A is older, financial matters are not
such a concern but she does worry about her insurances and superannuation while her
husband sometimes feels sad for lost opportunities.
As relationship with her immediate family changed very little before and
after the test. The only change was that a family that was already close and affectionate
with few secrets became even closer, with the final secret removed. She and her husband
agree that the family is supportive, dont dwell on negatives, and deal with problems
straightaway. They have always been reluctant to show anger in case they upset someone.
Since A has had her result, she believes the family can talk with each other
better, spend more time together, have different priorities, take more risks, make firmer
decisions and appreciate each other more. She accepts that theres no use being angry
at the disease - it is better to just take what comes and get on with it.
With her wider family, A distinguishes between her own family and her in-laws.
The latter are more supportive towards her and A describes them as caring, and
really interested in her well-being. Her husband agrees that the wider family as a whole
is not necessarily close or able to talk, nor do they get together to discuss their
Both A and her husband agree that it is better to know whether you are positive
or not than not know and it is certainly not the worst thing that can happen. She is doing
all the things she wanted to do in life before her health deteriorates.
As three children are young adults now, in their 20s. Two are single and
one is married but has no children. All three children grew up knowing that Huntington's
disease was in their family and that they were, at that time, at 25% risk. A
discussed taking the test with them and they knew what was involved but none was present
during the process.
When A got her result, her children had similar reactions. All three felt
sadness and none experienced joy, two felt anger and grief as well as acceptance. One also
felt depressed, one felt some guilt and the third experienced some relief.
Two years later two still feel sadness and one still
feels some grief. Two have become more accepting, one has not. Guilt, anger, grief and
depression have disappeared as the children have got on with their lives. The children
only think about Huntington's disease occasionally or when something happens to remind
them abut it.
All three children appreciate life more and recognise that Huntington's disease is only
one obstacle in life. None wish they had made different choices in life and all three feel
they had enough opportunity to make their views known. Two of the children think their
lives have been changed by the knowledge that they are at risk of Huntington's disease;
the third does not.
One child worries about the financial aspects of Huntington's disease, about
superannuation and obtaining insurance. Two children think they might be lonely as they
get older but try to keep fit and healthy. Both make more definite decisions than they
used to. All three children worry about what it will be like when their mother becomes
emotionally and physically dependent. One of As children plans to have children anyway, the other two would like
children but would screen them in utero for the disease. The childrens view of the immediate family matches that of their parents very
closely - they also experience it as close, affectionate and supportive with a positive
view on life and a willingness to deal with problems. They like the information and
support they receive from their mother and the close connection between family members is
Case Study 1 |
Case Study 2 |
Case Study 3 |
Case Study 4