Supporting people living with rare dementias: In conversation with Professor Nick Fox.

Whilst the most common diseases that cause dementia, such as Alzheimer’s disease and vascular dementia, are well known, there is less recognition of, and less research into, rare dementias. From frontotemporal dementia to familial Alzheimer’s disease, these are a collection of dementias that together constitute 5-15% of all cases. There is also much less support for these relatively neglected but devastating dementias. 

One of the foremost services offering help to people living with these conditions is Rare Dementia Support, led by the UCL Dementia Research Centre (DRC) and funded by The National Brain Appeal.

Professor Nick Fox, director of the DRC and UK DRI Group Leader at UCL, talks about the challenges faced by people living with rare dementias, the importance of Rare Dementia Support and the future of research into these conditions.

Nick, can you explain about the links between the Dementia Research Centre and rare dementias?

The Dementia Research Centre or DRC is a multi-disciplinary research centre that is closely linked to our cognitive clinics at the National Hospital for Neurology and Neurosurgery in Queen Square, London. Our clinical service and our research have always had a focus on young onset, inherited and atypical dementias and it was from that clinical experience that we realised how neglected these disorders were and how little support there was for families – and the support groups grew and became RDS.

I’d like to emphasise just how grateful we, at the DRC, are for the generous support from Dementia Research UK.  That support has been so helpful in funding much needed research into these and other dementias. 

What are some of the challenges faced by people living with rare dementias that are distinct from those presented by more common dementias?

Dementia is incredibly devastating for families at any age of any type, but rare dementias bring additional problems almost by definition.

People with rare dementias may have inherited their condition and they often present symptoms around middle-age, so they don’t fit the stereotype of being very elderly. It’s therefore harder for them to get a diagnosis, to get support and to get appropriate information. To quantify that slightly, just on average, it takes someone living with a rare dementia a whole year longer to get a diagnosis. 

It’s also hard if you’ve got problems where, for example, your problem is not memory, but it’s visual processing, as with posterior cortical atrophy, or if it is language-led. In both those situations, you often have a greater awareness that you are losing the ability to read or losing your ability to speak. Having an early onset dementia is devastating for the whole family, but, if it has a genetic, autosomal dominant, cause, it has even wider implications, as your children will then have a 50% chance of developing the same condition. How do you tell a child that what they’re seeing their father or mother go through they’re likely to have as well?

How has support for people living with rare dementias changed from early in your career to now?

I think it’s still woefully inadequate, honestly. It has improved, but it’s still very difficult for people to get support. The statutory provision, for example, respite care or day centres, are used to dealing with people who are very elderly. If people living with rare dementias are 50 and fit and they’ve got behavioural problems, they often can’t get that practical support. There are increasing services for what’s often referred to as ‘dementia of working age’ or ‘young onset dementia’. They are a great advance in terms of being able to signpost, but still, it’s very poor. There’s a massive gap.

How does Rare Dementia Support help people living with rare dementias and how can these people support research through the Dementia Research Centre?

The Rare Dementia Support is an umbrella organisation led by families and people who care about these rare dementias. Just finding somebody else to speak to who’s been through the same thing is helpful, but I think there is a great advantage of being able to find that there is somebody who knows about your condition. Peer support is very powerful. The individuals who’ve lived with somebody with dementia have great lived experience. They’ve found out what works, what doesn’t work. They have some difficult and painful experiences, but, also, they’ve got some very valuable experiences to pass on to others. That’s really central to what Rare Dementia Support tries to do: to not lose that valuable knowledge and experience. 

If people know what they’re dealing with, they can then also seek out how they can take part in research. We know that advocacy groups and support groups make a huge difference to people going into research. Dementia lags hugely behind other fields like HIV or cancer in terms of the proportion of people who go into research. With rare dementias, it’s all the more important. If we’ve only got one or two hundred families with familial Alzheimer’s disease, we won’t be able to do trials unless we’re successful in recruitment, and they have to know about that in order to be able to find out more and possibly volunteer.

How does your experience with people living with rare dementias as a clinician influence your perspective on your research?

Oh, lots of ways. I feel that for me and many of the other people in the Dementia Research Centre here at Queen Square, our clinical practice, the support groups and our research are really closely intertwined. I think it has opened up really important questions and there’s been very important observations. It’s also led me to think about the research myself or others do and ask the really important question: “is that going to make a difference to people?” I do think that it makes you more translationally driven and motivated.

I do think though that studying these families provides great opportunities for the more common forms of dementia too. The familial dementias, which have a strong genetic origin, allow great insights into the pre-symptomatic period, which would just not be feasible without these families. You’d have to study very large numbers of older people through to the onset of symptoms to understand what you’re dealing with. I think that they may hold not only a real key to understanding why people become affected by these neurodegenerative disorders, but also an opportunity to see what might work therapeutically and to intervene early. I feel very motivated by the families.

What would you say are some of the biggest challenges to developing potential treatments for rare dementias?

To start getting into the idea of developing treatments, we need to know the cause of the disease and, for some of the rare dementias, we don’t. Also, being rare creates challenges for clinical trials in two ways. One, can you recruit enough people for trials? And two, will you gain enough interest from the pharmaceutical industry, who may be concentrating on more common diseases?

Also, the outcome measures of trials are often designed for the typical dementia, so many people with an atypical Alzheimer’s disease are assessed in therapeutic trials with the standard metrics that don’t work. Therefore, appropriate outcome measures are really important. Appropriately organized inclusion and exclusion criteria are also important to reduce the variability you see across these rare dementias and increase the statistical power of trials. You have to understand what you’re dealing with.

What is the next advancement in treatments for dementia that you’re hoping to see?

I think we are on the cusp of disease-modifying therapies. I’m also quite excited by therapies that can be genetically based, so we can target faulty genes or pathogenic mutations or their downstream products. I think that is a rapidly moving, and important, area. I’d really like to see some of the genetic dementias leading the way and then opening up therapies for the rest of dementia.


The original version of this article was published on the website of the UK Dementia Research Institute. To view that article click here

Advice for Carers of a Person Living with Dementia – five practical suggestions

What does it mean to be the “carer” of a person diagnosed with dementia? In some cultures, there is not even a word that means “carer”.  Taking care of someone is just what you do, whether they are your spouse, or your parent, a friend, or a neighbour.  But the truth is that in millions of families and communities around the world, someone needs extra care and the person who takes on that task could be described as a “carer.”  Unlike childcare, which is a result of something joyous and maybe even longed for, people yearn for their loved ones to be independent and well until the end of life without ever needing their care.

When it happens a carer often feels rather alone.  Although awareness of dementia is increasing because of work done by international agencies such as the WHO, government health departments and Alzheimer or dementia organisations in many countries, it is still a work in progress.  It has been an uphill struggle.  Mental health and behavioural issues have historically been stigmatised.  Ageism is a fact in many societies.  Dementia itself is more common in women than men, and the people who do hands-on support are often female in a world where “women’s problems” don’t always get the greatest attention. Any disability seems hard for many “able” people to respond to. Things are definitely getting better, but how much better depends on where you live and what resources you have. It can be lonely trying to hack your way through an administrative and informational jungle, and to deal with attitudes even in your own family and community.

Everyone with dementia is different.  Every family is different.  It is tricky to find five practical hints that will be relevant to everyone.  Nevertheless, research and experience show that there are some universal truths about the challenges for people who support someone who is affected by dementia, so, here are five actions to consider.

  1. Talk to other people about it and think of it as a new role (at least a bit).

Allowing yourself to be identified as a carer might feel difficult.  The label implies that you have taken on a different character from being just a daughter, son, husband, wife, or friend, and that can be uncomfortable. You may believe you are only doing what anyone in your position would do.  That’s not strictly speaking correct, of course. Some people don’t take up that challenge.  Even for those who gladly do, looking after someone affected by dementia can be difficult, and the changes might ultimately be problematic.  But for a long time, things will be just as they always were.  From a practical point of view, there are many benefits and supports that you cannot access if you completely avoid being described as a carer.  An example would be Carer’s Allowance, or the support of a local carers’ organisation. Talk to any organisation and friends you trust about what you are going through. You may be surprised to find lots of other people have had, or are still having, a similar experience.  Someone just knowing what you are going through is supportive in itself.

  1. Get a specific diagnosis as soon as possible

Often the person has been having almost imperceptible changes.  A daughter might say, “It was only when I looked back over the last three or four years, I could tell you about things that had changed, but I just didn’t see them at the time.”  Sometimes people who are starting to have dementia are so afraid that they labour very hard to disguise problems.  The people round about them might also be in denial and collude with that, dismissing changes that may be a sign that help is needed.  If people are afraid about the future, they try not to think about it.  Research has shown that many people are more fearful of dementia than they are of cancer.  The idea of it makes the person worried, or depressed, and sometimes even ashamed.  So, they ignore the signs, hoping they are mistaken, or that it will just go away.

The practical thing is that there are many things that look like dementia but can be cured.  It’s a shame to live on with an infection, blood problem, depression, or other annoying condition and not have it treated.  And even if it is dementia, an earlier diagnosis can give the person access to medication, or other supports that will make life easier.  It gives the person time to start lifestyle changes that will help them stay better for longer.  The GP won’t mind you asking.  The waiting times for memory clinics are long, so get in the queue as soon as you can.  Facing it doesn’t make it more probable.  Information is power.  The internet is awash with generalisations about dementia, but you need some specific information about what disease this is that is causing the dementia of the person you care for.  Knowing what might happen helps you plan and reduces future shocks.

  1. Support the person you care for to make future plans

There is an old story where a man asks another for directions when he is lost on the road, and the reply is, “Well, I wouldn’t start from here.”  Many people put off making future arrangements like granting a Power of Attorney or making a living will until there is the crisis of a dementia diagnosis, but it would be much better if we all had thought about these things much earlier on the journey of life.  Talking about our future wishes may seem hard, if we’re not good at contemplating illness or death.  An early diagnosis allows a person to make plans while they are still in a good mental position to think about it.  It might be that someone else is in a better place to share those conversations than you, as their carer.  Most importantly, do not assume that the person lacks insight, or is unaware of what is happening.  Respect their wishes and take time. But as a carer, your life will be easier if you can get a realistic idea from the person you care for about what they want for the future. This will make your life much less stressful when the time comes where you finally have to make decisions for them.  That time will surely come. It is a comfort to carry out their wishes rather than argue about what they might have wanted, perhaps with others who have a different, maybe less justified, view.  Support them to be self-determined to the last possible time.  Give them that dignity.

  1. Accept help where you can find it – and ask for more from other sources.

One place to start is with the GP.  Let them know that you are the carer, and if needed, show them your Power of Attorney certificate.  GPs can keep an eye on your own health and offer your appointments around the same time (called double appointments) to reduce your number of repeated trips to the health centre. They also have information about local carer organisations that can signpost you to benefits and concessions, saving you time and money. Caring costs financially as well as making demands on your time and well-being.  If you have brothers and sisters or other relatives, and you are the main carer, you may need to ask them directly for help.  This means making specific requests.  They may be in denial about the need for help.  It is well known that when a less involved person shows up the person with dementia can put on a show, and make it look as if you have been exaggerating their level of need and being overly negative.  Sometimes this happens when you bring in medical or social staff for assessments.  They may not realise that the situation only looks unremarkable because you are exhausting yourself to keep up appearances.  The person perks up during the visit and nosedives after, when alone with you. That means people don’t offer help or try to think up ways they can support you.  It’s another job for you, to gather these resources, but worth it unless it starts to be stressful in itself.  If other family members don’t seem to accept the reality and get involved, you just have to move on.

  1. Take care of yourself

Advice in the popular media about any busy person loving yourself and taking care of yourself covers soft stuff like taking exercise, keeping a healthy diet, meeting with friends, and keeping up with things you enjoy such as taking leisurely baths by candlelight, meditating, relying on your faith.  Of course, you must do all of these things.  Always and as long as you want.  But there is different practical advice for carers.  That advice is in numbers one to four on this list.

The difference for you as a carer having to take care of yourself is that it’s not an indulgence. You need to protect yourself. You must adjust to the reality of the situation, and your new relationship with the person.  Being in denial and allowing others to be in denial makes your life harder, in ways that no amount of self-care will cure. You won’t even have time for self-care if you don’t ask for and allow help.  For that you need as much specific and relevant information as you can get, and the earliest diagnosis possible, to allow you both to make plans.  Those plans are for now, to live as well as possible for as long as possible, but also for the future, to free you from uncertainty about what the person would have wanted.  And you must seek out and accept help wherever you can.  There are people who will help you who are only waiting for you to ask. Practical love is the best kind, and carers need to receive that as well as to give.

Professor June Andrews