Like any GP, Dr Rob Lambourn would spend most of his working day listening to his patients describing their symptoms as he tried to diagnose what was wrong with them.
Yet when it came to his own health, he was perhaps not always so diligent.
In fact he dismissed his own symptoms, such as forgetfulness and loss of fine control of his fingers, until they came to a head one day at work – and he was later diagnosed with a rare neurological condition which tragically shortens his life expectancy.
‘I had a funny turn, my computer screen just looked like gobbledygook’ says Dr Rob Lambourn
As Rob, who had been a GP for 30 years, recalls: ‘Between seeing patients I suddenly had a funny turn.
‘My computer screen looked as if it was showing gobbledygook – it was just a page full of equations. But I had other patients waiting to be seen, so I carried on and tried not to worry about it.
‘Then I had to order a chest X-ray for someone over the phone – which is a simple task and something I’d done countless times before, but I could not remember how to do it.’
Rob, 64, runs the practice in Wooler, Northumberland with his wife Liz, 50, who is also a GP. He called her in from her next-door room to help.
‘I said to Liz I couldn’t remember how to order the X-ray which seemed bizarre,’ says Rob.
‘She was immediately very concerned as this was so out of character. She helped with ordering the scan but insisted I see my own GP as soon as possible.’
Rob called his doctor after his morning surgery finished and described what had happened.
‘She thought the symptoms sounded as if I may have had a mini stroke – which was very dramatic and worrying,’ recalls Rob.
He was referred to a stroke clinic, where the next day he underwent CT and MRI scans. But these ruled it out.
In fact subsequent investigations with a neurologist revealed that Rob had corticobasal degeneration (CBD), a rare type of dementia that develops slowly, affecting movement, speech, swallowing and memory.
Heartbreakingly, for most patients their life expectancy is around four years after diagnosis, as the brain and body slowly stop functioning normally, leading to complications that prove fatal.
The speed with which CBD progresses can vary between patients, but on average it takes about three years for patients to be diagnosed – as changes can be so gradual and often mistaken for other neurological problems including stroke, Parkinson’s or other types of dementia, such as Alzheimer’s.
Looking back, Rob says he should have taken more notice of the first symptoms at least 12 months earlier.
‘I developed a weakness in my right hand which I was aware of when doing fine motor skills,’ says Rob, a father-of-four who lives in Foulden, a village near Berwick-upon-Tweed.
‘I noticed it whenever I moved my computer mouse at work.
‘I also struggled to play my mandolin in the ceilidh band I had been in for 26 years – suddenly I could no longer reach all the strings with my fingers.
‘But I blamed it on my increasing workload when Covid came along, or on other things, rather than looking into why I was struggling with tasks I normally did instinctively.
‘I never imagined it could be anything serious so I carried on, not making a fuss.’
But he adds: ‘The consultant said I had probably started to develop CBD about a year earlier. When I described my right hand not working as well as it had, I had not realised it was an early symptom.
‘I guess that is quite typical of doctors – you can often ignore your own symptoms despite listening to those of your patients every day and investigating what might be behind them.’
CBD is thought to affect around six in 100,000 people.
But this could be a gross underestimate, says James Rowe, a professor of cognitive neurology at Cambridge University.
‘CBD affects many more people than have currently been diagnosed – for everyone living with CBD there is someone with symptoms that has yet to be diagnosed,’ he says.
‘Plus there are people whose CBD mimics more common neurological problems such as Alzheimer’s, and so they can be incorrectly diagnosed.’
He says there is a link between CBD and Alzheimer’s, not least because both seem to be caused by brain cells becoming damaged by a build-up of a naturally occurring protein called tau.
In most of us, tau is broken down and does not become a problem, but in those with CBD and Alzheimer’s (where along with another protein called amyloid) it can clump together forming plaques, which are thought to gradually slow the brain down and prevent nerve signals that are required to keep the body functioning normally.
For those with CBD, there is a build-up of tau on the surface of the brain (responsible for memory, learning, problem-solving and emotions) and a deep part of the brain called the basal ganglia, which is key to speech and movement.
But with Alzheimer’s, the damage is typically caused to the entorhinal cortex and hippocampus parts of the brain which are responsible for language and how someone behaves socially – though these symptoms are not always easy to distinguish and the conditions can present very similarly.
Dr Boyd Ghosh, a consultant neurologist at University Hospital Southampton, explains: ‘Usually the body uses the protein tau to transport nutrients up and down the nerves.
‘But in those with CBD, for unclear reasons, tau is folded in an abnormal way, so it does not function as well, causing these proteins to clump together.
‘They basically gum up the works, causing the cells in the brain to die. It is this neurodegeneration that causes CBD symptoms and which will lead to patients’ death earlier than usual.’
Classically, CBD first presents itself with movement issues in one arm or one leg, he explains.
‘The arm or leg won’t do what you want it to do and so the hands, for example, won’t carry out a simple task that requires fine motor skills, such as doing up buttons.
‘Some people with CBD might feel the limb has become estranged from them and experience what is called “alien limb syndrome”, which is when their hand makes involuntary movements.
‘They may develop a tremor, their balance might be affected, and their speech becomes slurred.
By the time CBD is diagnosed, cells in the brain can already have been damaged
‘These symptoms are very similar to many other neurological problems, so you can see why it could be misdiagnosed,’ says Dr Ghosh.
It’s not just other types of dementia that it can be mistaken for, symptoms of CBD can seem similar in the early stages to Parkinson’s too, which affects 153,000 people in the UK.
‘There is no diagnostic test for CBD, explains. says Dr Ghosh.
‘Instead we might look at how they move their hands as they might have difficulty in moving them in a certain way.
‘Also if the patient does not respond to dopamine drugs [those diagnosed with Parkinson’s disease have a reduction of this chemical in the brain] then it would lead us to think they have CBD instead. But it can be a process of elimination, which can also delay diagnosis.’
Dr Ghosh adds: ‘People with CBD are then treated depending on their symptoms. If someone was having swallowing issues for example, we would look at ways of putting thickener in their drinks so that they swallow liquids more slowly.
‘The difficulty is that by the time CBD is diagnosed, quite a lot of the damage has already been deposited in the cells in the brain. It means by the time we know what we are treating, the disease has taken a strong hold.
‘But we hope that in a similar way to research into Alzheimer’s, a breakthrough will also be made with CBD.’
Greater research interest into CBD and similar conditions led to the PROSPECT-M-UK study, set up nine years ago.
It used MRI scanning, blood samples, spinal fluid, detailed questionnaires, and clinical assessment to track the progression of the disease in around 1,000 people, including Rob.
About 100 volunteers who took part in the trial donated their brain for medical research after death.
Because tau is so minute it does not show up on any scans, so it can only be seen on brain samples when a special stain is used to highlight it.
In July last year £1.4 million in funding was announced for a new stage of the research, with a new study called ExPRESS to better map CBD in the brain.
‘The emphasis of ExPRESS is to study these diseases in the patient’s first year of having it so no time is lost,’ says Professor Rowe, who is among this project’s researchers.
‘So if a doctor has a suspicion that a patient might have it, they’re referred to a specialist straight away so it’s not a case of missing the boat by not being correctly diagnosed for years.
‘If we could start treating patients for symptoms when they’re more of an annoyance in their everyday life rather than causing a severe disability, it could make their quality of life much better for longer.’
Rebecca Packwood, CEO of PSP Association, which provides support to patients with CBD and similar conditions, says: ‘Delays in diagnosis are common for people living with CBD; for one in three people, it takes more than a year to receive a referral to neurology from their GP and it can take up to three years to obtain an accurate diagnosis.’
For Rob, who counts himself lucky to have had a relatively timely diagnosis, it was life changing in many ways.
‘Liz and I were intending to carry on working until I was 65 and then planned to go to New Zealand to work for a short period.
‘But all that couldn’t happen now, as I went on immediate sick leave before retiring on medical grounds exactly a year after diagnosis in July 2022.
‘I try to do everything I can to help slow the progression,’ he says.
‘I go on five-mile walks or bike rides every other day, do dexterity exercises like passing a coin between my fingers, and work on my balance.
‘I also do a daily Sudoku and so far, my memory seems fine – although I struggle sometimes to find the correct word.’
In August 2023, Rob started taking the Parkinson’s drug co-careldopa which can help with tremors and some movement issues.
‘Taking this medication seems to have slowed down its progress and helped me get another few years of doing what I enjoy,’ says Rob.
‘I had to give up work but I would find it more frustrating if I had to give up cycling, playing the mandolin or cooking with my family. I just want to hang on to those for as long as I possibly can.’
For more information contact: pspassociation.org.uk
