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

Reading and understanding news about research and developments in Dementia

Most weeks there are new headlines about dementia or splashes on social media.  If you have dementia yourself, or someone in your family is affected, you will probably read every word, searching for good news about a cure or for fresh information about how to stay well for as long as possible.

People with dementia expertise get concerned about the way these news stories are handled.  The problem is that they may be misleading.  Misinformation is unnecessary and cruel for people who are faced with a serious illness for which there is at present no cure.

The more we know about the brain, the closer we are to finding cures or ways of preventing the known brain diseases that cause dementia.  So, research is important in the search for vaccines, or other medication.  Some of the new information might only be one tiny step on the path to success.  It is important to celebrate every single step of the way forward.  But exaggeration or misrepresentation is unforgivable.

Every researcher who works on aspects of brain health and brain disease is determined to get their results published in a scientific journal as soon as possible.  It is only through sharing this knowledge about what does and doesn’t work that progress can be made.  The problem is that the reports of their research in scientific journals may be misrepresented by news outlets which then give the wrong impression of the results.

How does this happen?  There are several answers to that.

Sometimes the front-page headline is misleading because the story simply doesn’t match what the headline says.  That may be easy to spot, but only if you read the article right to the end, which might be on an inside page.  When I ask journalists about this problem, they complain that although they interview the scientists and refer to their published work, someone else decides what the headline will be. That person who may be the editor is motivated by the need to have something eye-catching for the front page of a newspaper, or something that online will be “click bait.” The flaw doesn’t worry them as much as grabbing attention.

A headline might say, “Grated nutmeg may help defend against dementia…”.  “May” is such a tricksy word.  It can be used to justify any statement.  I could say, “I may be able to run a marathon in a few weeks’ time…” even if everyone who knows me knows that is not going to happen. But they can’t say the statement was untrue.  But the person who badly wants a cure will already have been duped into buying up all the stocks of nutmegs because all they see is “help defend against dementia,” and they don’t notice the tempering word may.

The next thing the editor can do is add the phrase, “…scientists say.”   The writer is not only saying that nutmeg “may” help, but also distancing themselves by implying, “It wasn’t me that said it…”.  This gives two defences.  Attributing it to scientists makes it more credible for most of the audience.  And if someone challenges the journalist, they can say they were only reporting what someone else said.  Still not lying.  Even the punctuation on headlines adds to the confusion.  If they put scare quotes, for example with a headline that says “Grated nutmeg ‘cures’ dementia” they are signalling that the cure is only alleged, not asserted.  It’s another trick and a person might just see what they so much want to see.

If you go back to the source of the headline, how can any of us critically examine the research that lies behind such stories?  Even with some scientific training, most of us do not have the deep expertise to assess research without help.  But there are five things that everyone can do.

  1. Look at the sample size. If a person says their husband was cured of dementia taking a special dietary supplement, that’s interesting.  But it’s not evidence that the supplement works.  It’s a story.  For anything to have evidence that it works you need lots of cases, not one anecdote.  This is especially true if the person telling you is a celebrity or wants to sell a product.
  2. Ask who is benefitting. Is there an importer somewhere that would really like all the 900,000 people with dementia in the UK to buy nutmegs now to offload his stock?  Sometimes you can see conflict of interest in the person making the claims.  It may be subtle.
  3. Look at who is talking. Of course, we like scientists, and we trust doctors.  But it is worth doing a background search which is so easy on Google.  Is this person reputable, and what do other experts say about them? Some self-styled experts don’t have the respect of their peers.
  4. What institution is behind the research? Some universities and research institutions have fantastic international reputations, and you can be sure they have an interest in preventing any fake news being broadcast in their name, damaging their reputation.  Other impressive sounding organisations are disguised commercial businesses with no academic authority. They’ll say anything to get attention.
  5. Get help from someone who understands research. They will look at 1—4 above, but also how the data was collected, and whether the sample size and response rate is sufficient.  They will be able to judge the “validity” of the research, which basically is whether the research measures what it says it was meant to measure.

One area to think about is “confounding factors” that must be checked up when forming conclusions about research results.  An example might be the link between good sleep and dementia.  It is frequently asserted that sleep deprivation might be a causal factor in dementia.  But there are certain low paid jobs that deprive people of sleep, such as factory workers who do rotational shifts. Those workers may be lower paid and have poorer diets.  Working shifts may make them more at risk of diabetes.  Diabetes is also linked with dementia. People working factory shifts may have not completed higher education and there is a link between extra years of study and delaying dementia symptoms. So, if you want to be sure that the precipitating factor is the shift work, and not the education, or the diabetes, you need to screen for those in the research.

In conclusion, we are all at risk of being misled by news headlines that amount to fake news.  But you don’t need a PhD to critically evaluate what you are being told about dementia.  Learn as much as you can and ask for help if the story seems too good to be true.

Professor June Andrews

What are the symptoms of dementia?

Although many people think of dementia as a memory problem, dementia can cause difficulties with any of the functions of the brain.  These are often divided into cognitive changes and psychological changes, but there are also physical changes that take place.

Your brain is responsible for thinking, remembering, organising, communicating, planning, and reasoning.  It is also the seat of personality, and behaviour.  It affects feelings and can be the source of agitation.  If your brain isn’t functioning right, it can affect sensory perceptions.  You might “see” things that are not there, or fail to see things that are, even though your eyes are functioning perfectly well. This can affect balance, and combined with loss of control of movement, may cause difficulty in moving about, or even simple things like getting in and out of a chair.  Dementia is the term used for the cluster of symptoms when the brain, irreparably damaged by disease, fails in any of these functions.

Dementia symptoms vary depending on the underlying brain disease that is causing the dementia and the part of the brain affected.  Some causes, like vascular disease, can bring about an abrupt stepwise change or a series of changes because of a mini stroke.  That means a clot or bleeding in the brain.  Unlike a major stroke where all speech and movement (for example down one side of the body) may be lost, the vascular dementia impairments may be quite subtle at first.  Other illnesses, like Alzheimer’s disease, usually build up slowly over years, although there are aggressive forms of Alzheimer’s that cause more rapid deterioration.

Although the symptoms vary from one person to another there are a few common dementia symptoms.

  • Impairment of recent memory
  • Asking questions repetitively
  • Impairment of learning
  • Difficulty with reasoning
  • Becoming lost in familiar places or routes
  • Problems with planning and organisation
  • Difficulty finding words so communication is impaired
  • Problems handling money or other personal affairs
  • Anxiety and depression
  • Agitation
  • Hallucinations and paranoia

Although dementia is more of a risk the older a person is, it is not part of normal ageing.  There are tests for dementia that you may find online, but they are of limited value.  What is important is not how well you do in a test, but how you do compared to your previous capacity.

I told my doctor that I was having some difficulty with maths, and he laughed and told me that I’m still better than him. (Woman, age 72)

 This retired scientist was aware of how her capacity to do computation was slowing and she was making mistakes.  Her own awareness of change is extremely important.  A reduction from her previous capacity is more significant than how good she is now.   Therefore, diagnosis starts with careful questioning of the person and those people around them, to see what changes they have noticed over time.

There are many conditions other than dementia that might cause the symptoms described above.  For example, when someone is tired or depressed, or has an illness such as a urine or chest infection, it may look like dementia.  In hospital when a patient is unwell, in intensive care, or recovering from surgery they may suffer from delirium, which is a temporary condition involving fluctuating states of confusion.  One risk is that this delirium is mistaken for dementia and as a result the person is not given the treatments that would reverse the delirium.  That is why it is important to tell the clinical staff whether the patient had any of the symptoms of dementia before that hospital admission. It is unusual for dementia symptoms to come on suddenly.  There is a risk that if dementia is wrongly diagnosed, inappropriate decisions might be made, such as a permanent move to a care home.

Some people display mild symptoms, which are not severe enough to be diagnosed as dementia. This is called MCI (Mild Cognitive Impairment). They say it is like being mentally tired all the time.  It can be brought on by stress and fatigue.  Many people with MCI do not go on to develop dementia, but it creates anxiety.  If you are worried you should talk to your GP at the earliest possible stage and get a full physical examination.  At that appointment they may be able to exclude dementia and treat some of the reversible causes of those troubling symptoms.

In later stages of dementia, further symptoms develop.  It has been said that the memory problems are the least of the concerns. Behavioural symptoms include agitation, anxiety, wandering, aggression, and depression.  People with dementia can turn night into day which is exhausting for family carers.

My dad would telephone me at three in the morning, complaining that it was dark and that he couldn’t find his car keys to go to work.  He was long retired from work and had “retired” from driving three years before after a driving test, but it was hard to help him to understand that. (Daughter of man, age 85)

There is lots of advice available about how to reduce those symptoms without resorting to sedation.

The person with dementia may eventually lose the capacity to speak.  In the later stages they might be unable to move unaided and require a wheelchair or be confined to bed towards the end of life.  Continence issues in the early stages may have been because the person could not find their way to the toilet on time or got in a muddle with their clothes.  In later stages the person may become simply unaware and unable to control those functions.

Unintended weight loss is a symptom towards the end of life.  It sometimes appears that there is a loss of interest in eating and drinking and the person requires frequent encouragement to remember to eat, and to be provided with tempting food.  Mechanical problems with eating and swallowing can develop, leaving the frail person at risk of choking, or a chest infection caused by breathing in mouth contents rather than swallowing them.

Someone who has been diagnosed with dementia at the earliest stage will have years of active life before them.  From time to time a person diagnosed with dementia lives for decades and continues to have stable symptoms for a very long time.  Those people are very unusual, and it is important to study them to find out what is different from the majority whose symptoms become more serious over a shorter timescale.


Professor June Andrews