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 Supporting people living with rare dementia.

Professor Nick Fox

Nick Fox is Professor of Clinical Neurology at UCL’s Institute of Neurology where he is Director of the Dementia Research Centre.

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