When someone is diagnosed with familial Alzheimer’s disease due to a confirmed mutation in the PSEN1, PSEN2 or APP gene, or APP duplication, there are major implications for the rest of the family. As these genetic mutations are inherited in an autosomal dominant manner, that individual’s children and siblings each have a 50% risk of having inherited the faulty gene too.
Living with the knowledge that they are at risk of developing familial Alzheimer’s disease can raise all sorts of issues and concerns, and people may deal with this information in very different ways. Some people find that there can actually be a positive aspect to the news; it gives them the incentive to put things in perspective and work out what is really important to them in life, leading them to do things they had always wanted to do but may have previously put off. However, for many people the information is a heavy burden to carry and it is not uncommon for people to experience significant anxiety about their risk of developing the disease. Everybody has small memory lapses from time to time but these may cause heightened anxiety in someone from a family affected by familial Alzheimer’s disease. Unfortunately, feeling anxious and low in mood can itself have an adverse effect on memory. It is therefore important that people at risk of familial Alzheimer’s disease seek help if they experience significant anxiety or depression; counselling, psychological therapy or medication may all have a role to play in improving things for them.
One of the difficult things for someone living at risk of familial Alzheimer’s disease to consider is whether they want to have predictive genetic testing to find out if they have inherited the faulty gene. Predictive genetic testing is possible when there is a known genetic mutation in a family. It is only done after a period of genetic counselling, during which the individual sees a specialist in a genetics or neurogenetics clinic on a number of occasions to discuss all the implications of receiving either a positive or negative test result.
Genetic counselling is not counselling in the psychological sense of the word but a process of accurate information giving, explaining all the facts and options to an individual as clearly as possible so that they may make their own decision about whether to proceed with genetic testing. Usually people have to be over 18 years of age to undergo predictive testing and the process is spread over a minimum of 3-6 months, involving genetic counselling sessions and a ‘cooling off’ period before the test is actually done. There is a 40% drop out during this cooling off period. Reasons for this are various, but concerns about coping with the result and living with the result, waiting for a more appropriate time, and considering the impact that the result may have upon other family members, are amongst some of the common factors which dictate peoples’ decision making.[typo_blockquote class="alignleft" style="typo_style2"]“When I discovered I had a 50:50 chance of having FAD, I was a young mother with two very young children. I made life choices with this in mind, to go to all the places I’d always wanted to go to and have great memories with my children. It was when they had grown up and I had passed the age of onset for my family that I decided to take a predictive genetic test.”[/typo_blockquote]
Choosing to undergo predictive genetic testing requires very careful thought and is not the right decision for everyone. Reasons why people may want to have a genetic test include: wanting to end uncertainty, to help them in making life choices/plans for the future, to make family planning choices and to inform other family members of their risk eg. children. The decision is entirely personal and there is no right or wrong answer. Ultimately, it often depends on whether someone feels that they will be more able to live their life the way they want to with the uncertainty of not knowing or with the certainty of knowing, whatever the result.
Find out more about Predictive Genetic Testing.
The Emotional Impact of Living at Risk
Dr. Susie Henley, clinical and research psychologist, discusses the emotional impact of living at risk and diagnosis and various ways of coping.