Familial Alzheimer’s Disease: Frequently asked questions
This document attempts to summarize the frequently asked questions individuals with a diagnosis of Familial Alzheimer’s disease (FAD), at risk of FAD or caring for someone with FAD might have and want to address to researchers and/or clinicians. Given the potential magnitude of the work, based on experience and participant feedback we decided to include the following sections: 1)Questions on the disease’s nomenclature, diagnosis and being at risk (p.2-4); 2)Genetic testing (p.5-6); 3)Changes in family dynamics (p.6-7); 4)Practical aspects (p.7-8) and 5) Available support (p.8-10).
Document created by:
The local FAD research team
& The FAD Rare Dementia Support team July 2018.
Ivanna Pavisic; Jessica Collins; Dr. Antoinette O’Connor; Dr. Natalie Ryan, Maggie Fraser, Ayesha Khatun, Prof. Nick Fox
Questions chosen based on input from research participants and RDS members.
What is FAD?
Familial Alzheimer’s disease is a rare disease, probably accounting for less than 1% of the cases of Alzheimer’s disease overall. It generally affects people at a younger age than more common sporadic (non-inherited) forms of Alzheimer’s disease. It is caused by a fault (mutation) within a gene. Three genes have been found to contain mutations that lead to the disease. These are called the Presenilin 1 (PSEN1) and Presenilin 2 (PSEN2) and Amyloid precursor protein (APP) genes. These mutations run in families and the risk of a parent passing a mutation on to their children is 50% (1 in 2 chance) for each pregnancy. An affected parent could have all children affected, all children unaffected, or a mixture.
What does “autosomal dominant inheritance” mean?
Autosomal dominant is one of several ways that a trait or disorder can be passed down (inherited) through generations. In an autosomal dominant disease, if you inherit one copy of the mutation/faulty gene you, depending on the gene penetrance, get the disease. Unfortunately, mutations in FAD are almost 100% penetrance, which means if you inherit the mutation, you will develop the condition, provided you survive long enough.
My parent developed Alzheimer’s in their 50s. Am I at risk of FAD?
Young onset Alzheimer’s disease is defined where a person develops symptoms before the age of 65 years. Most commonly, cases of young onset Alzheimer’s disease are sporadic i.e. not inherited. Some cases of young onset Alzheimer’s disease are familial, i.e. caused by a genetic, inherited mutation. In these cases, there is almost always a family history of young Alzheimer’s disease, with memory problems starting at a reasonably consistent age in successive generations.
Will I develop the exact same symptoms as my parent if I have the same genetic mutation?
There is variability in the symptoms and disease progression rate between mutations and within the same mutation, and even within the same family.
How many different mutations are there? Which are the most common?
FAD is due to mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2) or amyloid precursor protein (APP) genes or APP duplications. To date, over 200 different mutations have been found in the PSEN1 gene, over 50 in APP and less than 20 in PSEN2. There are mutations that affect many different families and some that may only affect one family (to our knowledge). However, more mutations continue to be discovered.
What are the first symptoms of disease onset?
Most people with familial Alzheimer’s disease have symptoms of memory loss from an early stage. In some individuals, memory impairment remains the only problem for many years. Changes in behaviour and personality may occur later in the disease, and sometimes may be the earliest symptom. The same is true of speech; in most individuals it is not affected until later in the disease but in some people difficulty with speech and conversation may be an early symptom. The presentation often depends on the gene involved.
Many people with familial Alzheimer’s disease have no physical signs of the disease. Rarely, however, it can affect an individual’s walking by causing stiffness of the legs, unsteadiness, or slowing down of movements.
Involuntary jerking movements (called myoclonus) may develop; these may begin very subtly in the fingers and become more prominent in the limbs later in the disease course. Seizures can also occur, particularly in the later stages of the disease.
How is FAD diagnosed?
Genetic mutations can be tested with a blood test which screens for genetic mutations. If a person already presents with symptoms and it is known that in their family there is a gene mutation that causes AD, that gene can be tested for.
At what age can FAD develop? If my relative started to exhibit symptoms at a certain age and I end up having the mutation, am I likely to start exhibiting symptoms at the same age?
The age at which people develop symptoms varies considerably between different families but in some families, individuals may be as young as their early 30’s when they become affected. Within a single family, people tend to develop the disease at broadly similar ages.
Age at symptoms onset often depends on the genetic mutation and studies suggest an overall younger age of symptom onset for PSEN1 compared to APP mutation carriers, although age at onset varies a lot between different PSEN1 mutations. The oldest ages at onset are seen in carriers of PSEN2 mutations, which are rarer than APP mutations or PSEN1 mutations. PSEN1 mutations are the commonest cause of FAD.
Is there anything I can do to prevent or delay symptom onset if I have a mutation?
FAD is an autosomal dominant inherited condition, which means if an individual has inherited the mutation, they will develop the condition if they live long enough. At present there are no disease modifying treatments that slow or stop the progression of the disease. However, there is considerable ongoing research into finding new treatments, including clinical trials that individuals at risk of FAD may participate in.
Is there any treatment for FAD?
While there are no disease modifying treatments available, there are a number of symptomatic treatments available. These medications (cholinesterase inhibitors and memantine) can improve symptoms of the disease but do not slow the disease progression.
Symptoms of depression and anxiety are relatively common in FAD and may be helped by medication. It is important to treat these symptoms as, if present, they may exacerbate an individual’s memory impairment.
Other medications may also be helpful for treating specific additional symptoms in FAD if they are present, including myoclonic jerks, seizures or leg stiffness.
A progressive deterioration does eventually occur due to the ongoing loss of brain cells. However, the rate of decline can vary considerably between individuals. In the later stages of the disease, full-time care may be required.
Is there a way of telling how long someone with FAD will survive?
The length of time an individual survives after they first develop symptoms of FAD is widely variable. At present, there is no way to accurately predict how long an individual will survive with this disease. Longitudinal research studies are working to understand this by following individuals as their disease progresses.
I look the most like my parent, who has the genetic mutation. Does that mean I am more likely to have inherited the mutation?
The simple answer is – no. The genetic mutations that cause familial AD are not responsible for all of your other characteristics, such as how you look, your height, your personality, etc. Therefore, there is no evidence to suggest that those who look most like the person with the mutation are more likely to inherit the mutation from them.
Is the mutation more likely to be inherited by the women or men in my family?
There is no evidence of a link between sex and the likelihood of inheriting a mutation. Therefore, neither men nor women are more likely to inherit the mutation.
Can FAD skip a generation? If I do not have the genetic mutation are my children still at risk of the disease?
Autosomal dominant genetic mutations do not skip a generation. Therefore, if you did not inherit the genetic mutation from your parents, then your children are not at risk of the disease. The mutation may appear to skip a generation if a person with the faulty gene dies of another cause before the illness develops. However individuals who inherit the faulty gene will almost certainly go on to develop the disease if they live long enough.
Who should have genetic testing?
Diagnostic genetic testing is only appropriate for a very small proportion of people with Alzheimer’s disease. The vast majority of cases of Alzheimer’s disease are sporadic, meaning that a single genetic mutation is not responsible for the condition. Therefore, diagnostic testing is typically offered when someone has developed symptoms of Alzheimer’s disease at a young age and has a strong family history of other relatives developing a similar illness at a similar age. It may also be offered to individuals with early onset Alzheimer’s disease who have a censored family history .i.e. a family member died at an age younger than the expected onset of symptoms of FAD.
Predictive genetic testing is offered to members of FAD families who do not have any symptoms of FAD i.e. are presymptomatic. For an individual to undergo predicative genetic testing they must have a first-degree relative (i.e. a sibling or parent) in whom an FAD causing genetic mutation has been proven- we need to know the mutation in the family in order to check for its presence or absence. Predictive genetic testing involves a period of genetic counselling.
What is genetic counselling and how do I access it?
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 informed decision about whether to proceed with genetic testing. The sessions are spread over a minimum of 3-6 months and are followed by a ‘cooling off’ period before the test is actually done, during which people may decide to decline or postpone taking the test. If a relative is thinking about finding out whether they have inherited the faulty gene, they will need to be referred to a genetics or neurogenetics clinic by a GP or hospital consultant.
When should I consider genetic testing?
Choosing to undergo genetic testing is a very personal decision, requires very careful thought, and is not the right decision for everyone. It is also perfectly acceptable for an individual to decline testing after undergoing a period of genetic counselling. 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 e.g. children. If someone is considering genetic testing, it is a good idea to think about how the testing procedure and test results may affect their relationship with their partner and other family members. In many cases, the genetic testing process brings families closer together but in some cases, the process can cause tension and complications within a family. An individual’s test result can give other family members unwanted information about their own risk. It is important to remember that different members of a family may have different feelings about testing and that these feelings should be respected. Equally, it should be remembered that taking a genetic test is a very personal choice and an individual should never feel pressured into taking it by family, friends or healthcare professionals.
Does having a positive genetic test (i.e. knowing I have the mutation) affect my chances of getting life insurance, a mortgage, a job, etc.?
The simple answer is no. According to Genetic Alliance UK, if you have taken a predictive genetic test and the test result is “positive”, but you do not have any symptoms of Alzheimer’s disease, you do not have to disclose the results to the insurance company as you currently do not have the disease.
If the insurance application asks about your other family members’ diagnoses, you must disclose this in your application to prevent your policy becoming void. You can find more information about issues around genetic testing from Genetic Alliance UK at https://www.geneticalliance.org.uk/
When should I tell my children they could be at risk?
Discussing genetic risk can be a difficult conversation, and the “right time” to broach this with children differs between families. Some people choose to discuss this issue with children from a young age, while other people prefer to wait until children are older.
If one of their family members has symptoms of FAD, children may have many questions about the changes they notice in their relative. It is important to give them opportunities to talk and ask questions and there are some useful resources online to help explain dementia to children of different ages.
-See support section below for more information available for younger people.
If I have a mutation, how can I stop my children from inheriting the mutation?
It is possible to prevent your children from inheriting the mutation by undergoing pre- implantation genetic diagnosis (PGD). The Human Fertility and Embryology Authority (HFEA) have granted a license allowing testing for PSEN1, PSEN2 or APP 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 fertilization). 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. Unfortunately, at present the NHS covers for the costs of one child per couple.
How can I access pre-implantation genetic diagnosis (PGD) in the UK?
You can be referred to a PGD clinic through your geneticist or genetic counsellor.
More information about can be found at Genetic Alliance UK: http://www.geneticalliance.org.uk
Do I need to have had genetic testing myself to have PGD?
No. As long as there is a confirmed genetic mutation that runs within your family, you can have PGD without having a genetic test yourself.
Does having a diagnosis of dementia mean I can no longer drive?
Having a diagnosis of dementia does not necessarily mean a person cannot drive. If you have been diagnosed with FAD you have a legal responsibility to inform the Driver and Vehicle Licensing Agency (DVLA) of the diagnosis. The driving insurance company should also be informed.
The Medical Advisory Branch of the DVLA decides whether you can continue to drive using the information provided by you and your GP or hospital consultant. Sometimes it may be necessary to take a free driving test conducted by the Driving Standards Agency.
You can contact them via their website or via post:
Drivers Medical Enquiries DVLA
Tel. 0300 790 6806
Many people have found practical solutions such as allowing family and friends to help or arranging an account with a local taxi company.
When should I start thinking about financial and legal affairs?
Many support group members find it beneficial to think about financial and legal affairs as soon as possible. Some people encounter difficulties in trying to make arrangements further down the line when it is less clear whether they have the mental capacity to do so (this is your ability to make your own decisions based on your understanding, communication and ability to remember the decision). Therefore, we would always recommend making arrangements before your mental capacity can be called into question. Organising your financial and legal affairs also allows you to have peace of mind that all issues can be dealt with in the way you have chosen.
You may wish to consider the following issues:
Arrange bills to be paid by direct debit and benefits to be paid directly into the bank account
Consider joint bank accounts
Seek advice from a solicitor or financial adviser if needed (especially with complicated matters such as setting up a trust, etc.)
Make sure you are receiving all the benefits to which you are entitled
Make a will
Consider arranging Lasting Power of Attorney (LPA). This is a legal document which gives the person/persons you have chosen the right to make decisions for you on financial and/or health care matters in case you lose the capacity to make decisions yourself. You may choose to have only one LPA (financial or health) or both. You can find out more about this at: https://www.gov.uk/power-of-attorney
How do you live knowing you might have an Alzheimer’s gene?
Genetic counselling and the appropriate support from carers, professionals and individuals in similar situation is essential. Here is a link post of the experience of one individual in a similar situation:
What support is available for a person with a diagnosis of FAD?
The needs of the person with the diagnosis will certainly change as the disease progresses. Genetic counselling and psychological support are likely to be a very important source of support especially in the early stages. For more information please visit the section on support and advice in our Rare Dementia Support website: http://www.raredementiasupport.org/fad/
Admiral Nurses are provided by the charity Dementia UK to provide specialist dementia support for families living with a diagnosis. Their website has more useful information about their availability across the UK: https://www.dementiauk.org/get-support/admiral-nursing/
What support is available for the carer?
Receiving a diagnosis of a genetic condition can also have a large impact on the person’s caregiver. They may have to manage the practical difficulties of the diagnosis, along with the emotional implications this has for themselves and for the rest of the family. The emotional impact of dementia is hard – many people go through a wealth of feelings from guilty, angry, and annoyed, to sad and despairing.
Coming to a peer support group is one way of realising that it is normal to feel like this, and that many other carers have those feelings from time to time. The FAD support group aims to provide a forum where it is possible for people living with FAD and their patients to share their experiences and coping strategies with each other. The Carers’ Support Group provides a forum for carers of people with different types of dementia to meet and discuss issues around supporting a person living with dementia.
Some carers find online forums a useful place to find others who empathise with and share their experiences. The Alzheimer’s Society Talking Point forum is a popular UK-based forum: https://www.alzheimers.org.uk/get-support/talking-point-our-online-community
National Institute for Health and Clinical Excellence (NICE) guidelines recommend that people caring for a person living with dementia should have an assessment of their needs (which includes assessing for and treating psychological distress if necessary), and should be given education about dementia, access to peer-support groups and information about benefits and legal matters. You may wish to access local psychological support via your GP.
You may find other relevant regional support groups on the Young Dementia UK website (https://www.youngdementiauk.org/find-support) or on the Alzheimer’s society website (https://www.alzheimers.org.uk/find-support-near-you), on both of which you can search by region.
What support is available for my children?
Children of a person living with FAD may face difficulties around managing the change in family situation that comes with a diagnosis. Furthermore, the inheritance risk associated with this disease will naturally add to the psychological and emotional factors that will play a part in how young people deal with its effect in a parent. More information on supporting young people can be found in the Supporting Young People section of the Rare Dementia Support website (a few links mentioned below):
- Understanding dementia, a guide for young people
- Dementia for children and young people
- Carers Trust: Young Carers
- Information for young carers from the NHS
- Alzheimer’s association, kids and teens
- Explaining dementia to children and young people
- How dementia in someone close can affect children or young people
- How to help children affected by dementia
- Is there a way to get in touch with other people affected by FAD?
As part of the Rare Dementia Support charity, FAD families meet once a year to share their experiences with the condition. Carers of people living with FAD are also warmly invited to the Carers’ Support groups, which is held two to three times a year.
For more information on available support, visit the website: http://www.raredementiasupport.org/.
For the Alzheimer’s forum visit: https://www.alzforum.org/
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