When living at risk of FAD, people naturally ask what will happen next. Will I inherit this condition from my parents, and can I pass it on to my children? Should I get tested? What support is available to me?
If you think you are at risk of FAD, we have provided some information that you may find helpful.
Genetic testing and counselling
In families where a gene mutation is known or suspected, expert genetic advice is important.
If someone has a relative with Alzheimer’s disease and is concerned that it may be familial, they should gather as much information as they can about their relative’s family history. Useful information would include how old family members were when they died, whether they had dementia and, if so, whether Alzheimer’s disease was the cause, and the age at which they developed symptoms.
The doctor caring for their relative will be able to refer them to a specialist genetics or neurogenetics clinic to discuss their concerns and arrange genetic counselling and testing if needed.
Genetic counselling is not psychological counselling. It is the process of a specialist explaining all of the facts and options to an individual as clearly as possible, so that they may make an informed decision about whether to proceed with genetic testing. Both the individual at risk and their next of kin should be involved in these discussions as a diagnosis of FAD has implications for the whole family.
If an individual decides after genetic counselling to get a genetic test, then a blood test is carried out to look for a faulty gene that can cause FAD. There are two types of testing:
- Diagnostic genetic testing is typically offered when someone has developed symptoms of Alzheimer’s disease at a young age and has a strong family history of the condition. It may also be offered to individuals who have symptoms of Alzheimer’s disease under the age of 65, but whose family history is not known.
- Predictive genetic testing: If the precise FAD mutation affecting an individual is known, it is possible for that individual’s adult children and siblings to undergo genetic testing in order to find out whether they have inherited the mutation. This type of testing is done on individuals who are currently well and have no symptoms of Alzheimer’s disease.
For more information on genetic counselling and testing please visit our FAQs section. For more information on genetic testing and dementia, you may find the Alzheimer’s Society website useful.
If I have the gene mutation, what can I do to avoid passing the gene onto my children?
It is possible to prevent your children from inheriting the mutation by undergoing pre-implantation genetic diagnosis – known as PGD. The Human Fertility and Embryology Authority (HFEA) have granted a license allowing testing for mutations for couples who wish to pursue PGD.
PGD is available to couples if there is a specific genetic mutation known to run in the family, although the individual undergoing PGD does not necessarily need to find out whether they carry the mutation themselves. It is a lengthy and complex process involving assisted reproductive technology, more commonly known as IVF (in vitro fertilisation). The chances of success depend on various factors and there are a number of criteria that must be fulfilled if a couple is to be considered for PGD. At present, the NHS only covers the costs of one child per couple.
Community support
We run a FAD Support Group for families affected by FAD. Meetings provide an opportunity to meet others in similar situations as well as a range of professionals to get advice and support. Information on upcoming meetings can be on our Meetings page.
As FAD is so rare and the symptoms can vary from person to person, it may be hard for people with FAD to receive the correct diagnosis. This can be frustrating and distressing. By increasing awareness and understanding of FAD, we hope to ensure that healthcare professionals and communities are better equipped to support people affected by a diagnosis of FAD. Help us by sharing your stories and contacting us at contact@raredementiasupport.org.
