Like any GP, Dr Rob Lambourn spent most of his working day listening to his patients describe their symptoms while trying to diagnose what was wrong with them.
However, when it came to his own health, he may not always have been 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 disease that tragically shortened his life expectancy.
“I had a very funny turn, my computer screen looked like gibberish,” says Dr. Rob Lambourn
As Rob, who had been a GP for 30 years, recalls: ‘Between every patient I saw, something strange suddenly occurred to me.
‘My computer screen seemed to be displaying gibberish – it was just a page full of equations. But I had other patients waiting to be seen, so I just kept going 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 had done countless times before, but couldn’t remember how to do.”
Rob, 64, runs the practice in Wooler, Northumberland, with his wife Liz, 50, who is also a GP. He called her from his room next door for help.
“I told Liz I couldn’t remember how to order the X-ray, which I thought was strange,” Rob says.
“He was immediately very concerned because this was not a normal occurrence for me. He helped me arrange the scan but insisted I go see my GP as soon as possible.”
Rob called his doctor after finishing his morning surgery and described what had happened.
“She thought the symptoms seemed to indicate she had suffered a mini-stroke, which was very dramatic and worrying,” Rob recalls.
He was referred to a stroke clinic, where he underwent a CT scan and MRI the next day, but these ruled out the possibility.
In fact, further investigation with a neurologist revealed that Rob had corticobasal degeneration (CBD), a rare type of dementia that develops slowly and affects movement, speech, swallowing and memory.
Unfortunately, for most patients, 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 at which CBD progresses can vary between patients, but on average, it takes about three years for patients to be diagnosed, as the changes can be very gradual and often confused with other neurological problems, such as stroke, Parkinson’s or other types of dementia, such as Alzheimer’s.
In retrospect, Rob says he should have paid more attention to the early symptoms at least 12 months earlier.
“I developed a weakness in my right hand which I noticed when doing fine motor exercises,” says Rob, a father of four who lives in Foulden, a village near Berwick-upon-Tweed.
‘I noticed it every time I moved the computer mouse at work.
‘I also had difficulty playing my mandolin in the ceilidh band I was in for 26 years – suddenly I couldn’t reach all the strings with my fingers anymore.
‘But I blamed it on my increasing workload when Covid hit, or other things, rather than looking at why I was struggling to perform tasks I normally did instinctively.
“I never imagined it could be something serious, so I continued on without making any noise.”
But he adds: “The doctor told me I had probably started developing EBC about a year earlier. When I told him my right hand wasn’t working as well as it used to, I didn’t realise that was an early symptom.
‘I guess that’s pretty typical of doctors: they can often ignore their own symptoms despite hearing their patients’ every day and investigating what might be behind them.’
CBD is believed to affect approximately six in every 100,000 people.
But this could be a huge underestimate, says James Rowe, professor of cognitive neurology at the University of Cambridge.
‘CBD affects many more people than have currently been diagnosed: for every person living with CBD there is someone with symptoms that have not yet been diagnosed,’ she says.
‘There are also people whose CBD mimics more common neurological problems, such as Alzheimer’s, and so may receive an incorrect diagnosis.’
He says there is a link between CBD and Alzheimer’s, particularly since both appear to be caused by brain cells being damaged by a buildup of a natural protein called tau.
In most of us, tau breaks down and doesn’t become a problem, but in those with CBD and Alzheimer’s (where along with another protein called amyloid) it can clump together to form plaques, which are thought to gradually slow down the brain and prevent nerve signals that are necessary to keep the body functioning normally.
In people with CBD, there is a buildup of tau on the surface of the brain (responsible for memory, learning, problem-solving, and emotions) and in a deep part of the brain called the basal ganglia, which is key to speech and movement.
But in Alzheimer’s, the damage usually affects the entorhinal cortex and hippocampus, parts of the brain that are responsible for language and social behavior, although these symptoms are not always easy to distinguish and the conditions can present in very similar ways.
Dr Boyd Ghosh, consultant neurologist at University Hospital Southampton, explains: ‘Normally, the body uses tau protein to transport nutrients up and down nerves.
‘But in those with CBD, for unclear reasons, tau folds abnormally so it doesn’t work as well, causing these proteins to clump together.
“Basically, they block the functioning and cause the death of brain cells. This neurodegeneration is what causes the symptoms of EBC and what will cause patients to die earlier than usual.”
Classically, CBD first presents with movement problems in an arm or leg, he explains.
‘The arm or leg doesn’t do what you want it to do, and, for example, the hands don’t perform a simple task that requires fine motor skills, such as buttoning buttons.
‘Some people with CBD may feel like the limb has become foreign to them and experience what is called “alien limb syndrome,” which is when your hand makes involuntary movements.
‘They may develop tremors, their balance may be affected and their speech becomes slurred.
By the time CBD is diagnosed, brain cells may already be damaged.
“These symptoms are very similar to many other neurological problems, so one can understand why it could be misdiagnosed,” says Dr. Ghosh.
Not only can it be confused with other types of dementia, the symptoms of EHC can also appear similar in the early stages to those of Parkinson’s, which affects 153,000 people in the UK.
‘There is no diagnostic test for CBD,’ explains Dr. Ghosh.
‘Instead, we could look at how they move their hands, as they might have difficulty moving them in a certain way.
‘Also, if the patient doesn’t respond to dopaminergic drugs (those diagnosed with Parkinson’s disease have a reduction of this chemical in the brain), then that would lead us to think that they actually have CBD. But it can be a process of elimination, which can also delay the diagnosis.’
Dr Ghosh adds: ‘People on CBD are treated based on their symptoms. If someone was having trouble swallowing, for example, we would look at ways to put thickeners in their drinks to make them swallow the liquids more slowly.
‘The difficulty is that by the time Parkinson’s is diagnosed, much of the damage has already been done to brain cells. This means that by the time we know what we’re dealing with, the disease has already taken hold.
“But we hope that, similar to Alzheimer’s research, there will also be a breakthrough with CBD.”
Increased interest in research into CBD and other similar diseases led to the PROSPECT-M-UK study, created nine years ago.
MRI scans, blood and spinal fluid samples, detailed questionnaires and clinical assessment were used to follow the progression of the disease in around 1,000 people, including Rob.
Around 100 volunteers who participated in the trial donated their brains for medical research after their death.
Because tau is so tiny that it doesn’t show up on any scans, it can only be seen in brain samples when a special stain is used to highlight it.
In July last year, £1.4m 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 during the first year that the patient has them so as not to waste time,” says Professor Rowe, who is among the researchers on this project.
‘That’s why if a doctor suspects that a patient may have it, he or she will immediately refer the patient to a specialist so that the patient doesn’t miss the opportunity to receive a correct diagnosis for years.
“If we could start treating patients for symptoms that, rather than causing them serious disability, are a nuisance in their daily lives, their quality of life could be much improved for longer.”
Rebecca Packwood, chief executive of the PSP Association, which provides support for 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 get an accurate diagnosis.’
For Rob, who considers himself fortunate to have had a relatively early diagnosis, it was life-changing in many ways.
‘Liz and I intended to continue working until I was 65 and then we planned to go to New Zealand to work for a short period.
‘But all that could not happen now, as I took immediate sick leave before retiring for medical reasons exactly one year after the diagnosis in July 2022.
“I try to do everything I can to help slow the progression,” he says.
‘Every two days I go for five-mile walks or bike rides, do dexterity exercises like passing a coin through my fingers, and work on my balance.
‘I also do a daily Sudoku and so far my memory seems to be fine, although sometimes I struggle to find the right word.’
In August 2023, Rob started taking co-careldopa, a Parkinson’s medication that can help with tremors and some movement problems.
“Taking this medication seems to have slowed down the progression and helped me continue for a few more years doing what I enjoy,” Rob says.
“I had to stop working, but I would find it more frustrating if I had to stop riding my bike, playing the mandolin or cooking with my family. I just want to hold on to those activities for as long as possible.”
For more information, please contact: pspassociation.org.uk
