The pain of being misdiagnosed with Alzheimer’s
A wrong diagnosis tore Martin’s life apart, yet it’s more common that we realise, reports Angela Neustatter
Martin can recall, all too clearly, the day he received the devastating diagnosis of advanced Alzheimer’s. He went straight from the consultant’s office to sit in Westminster Abbey, trying to understand how profoundly his life was going to change.
It is 10 years since Martin, who “does not want to use my full name in case people who do not know me well start wondering if I really am all right”, had become anxious enough about his forgetfulness and short-term memory loss to go to his GP.
He was referred to the dementia clinic under a consultant at a London teaching hospital and in 2010 began two years of regular brain scans, while a psychiatrist performed detailed yearly cognitive tests. He was reassured by the knowledge that if something serious was taking place it would be identified. But during this time, Martin, 74, and his wife agree, his memory and cognitive ability did not seem to deteriorate.
The consultant who had been monitoring his condition said she wanted to put Martin on galantamine, medication that is supposed to slow the progress of Alzheimer’s, but is not a cure. In order to do this she had to give a formal diagnosis: “She said my hippocampus was riddled with sticky plasma of the kind indicating Alzheimer’s, and I felt I had to trust her judgment.”
Martin and his wife asked to see the scans showing how the disease had progressed so they could understand. The consultant said she did not have the equipment to show them. At this point, Martin said he wanted a second opinion, but, while he waited for a referral, his wife remembers he “became depressed and withdrawn; neighbours commented on it, too. I can see now what a profound effect the diagnosis had on him psychologically”.
He adds: “From the moment I saw myself as an Alzheimer’s patient, I began to dismantle my life and my dreams of the future.”
He retired from publishing three years early and cut back on plans he had made, from voluntary work to adventurous holidays.
It was several months before his first appointment with consultant neurologist Dr Catherine Mummery at the National Hospital for Neurology and Neurosurgery in London – when things changed quite dramatically. “She spent an hour talking with me, discussing a range of topics, and asking other testing questions. At the end, she said she did not believe I had Alzheimer’s.”
As the hospital’s clinical lead for dementia services, Dr Mummery “quite regularly” sees people who have been misdiagnosed with dementia. Alzheimer’s, she explains, is only one form of brain disease causing dementia and globally there is misdiagnosis of between 20 and 30per cent of dementia cases.
“Alzheimer’s can be a complex condition to diagnose and there are no clear national figures on misdiagnosis,” says Dr Mummery. “Nor is there such a thing as a 100per cent test. Martin was given a diagnosis on the basis of a PET scan of his brain; however, there are a number of conditions from menopause to depression or schizophrenia, where changes may take place in brain metabolism, so caution is needed.
“If someone comes to me with an Alzheimer’s diagnosis, I believe in doing my own tests and making my own judgment,” she says. “Individuals will often not question the diagnosis they are given, as they expect the doctor to be accurate, due to their expertise. I would estimate that we see several cases a month where the diagnosis [should be] of another dementia, or where we have to retract the dementia diagnosis [altogether].”
In Martin’s case, she says: “I saw him three times and there were no changes, so I felt confident telling him categorically he did not have
‘From the moment I saw myself as a patient, I began to dismantle my life’
Alzheimer’s. I continue to see him and there are no changes six years after the initial diagnosis.”
Unhelpfully for those living in the shadow of the disease, post-mortem diagnosis is still the “gold standard for providing definitive evidence of Alzheimer’s”, Dr Mummery explains. Yet, as no cure or effective treatment for the disease exists, early diagnosis is essential because some drugs can delay its progress and help preserve quality of life for as long as possible.
Dr Sara Imarisio, head of research at Alzheimer’s Research UK, says that with “only 60per cent of those estimated to be living with dementia having a formal diagnosis, and rates varying across the UK, it’s important that healthcare professionals understand the signs. Memory tests, brain scans and spinal fluid samples taken by lumbar puncture can reveal changes linked to the early stages.”
It is estimated that by 2025 there will be one million people in the UK with dementia, and it is the thing over-60s fear most, which means the importance of investment into improving diagnosis of Alzheimer’s cannot be overstated, says Dominic Carter, senior policy officer at the Alzheimer’s Society. “We have made big progress in getting accurate diagnosis, but there are not enough of the best clinical tools for getting the most accurate information,” he says. “And further research is needed into how we approach misdiagnosis with all the distress it causes.”
In 2016, researchers from St Michael’s Hospital in Toronto, Canada, revealed the results of a preliminary study of inconsistencies between clinical and autopsy diagnoses in more than 1,000 people listed in the National Alzheimer’s Coordinating Center database. “Even with all the latest diagnostic methods, the discrepancy between
the clinical diagnosis of Alzheimer’s disease and the pathological diagnosis is about 20 per cent,” said adjunct scientist Dr David Munoz, the senior researcher. He and his colleagues found that 78 per cent of the patients they studied had a correct diagnosis in the clinic, which was confirmed in an autopsy of the brain. Nearly another 11 per cent didn’t have a formal Alzheimer’s diagnosis, yet were found
to have had the disease. Roughly the same percentage of those diagnosed with Alzheimer’s in the clinic did not actually have the disease.
A false positive diagnosis can occur when, for instance, someone has depression and exhibits symptoms very similar to Alzheimer’s. Others may have brain markers of Alzheimer’s but never go on to develop the disease.
Distress doesn’t begin to describe the despair Martin felt at his diagnosis,
but nor, he says, did having it revoked instantly make everything all right. “In one sense it was a relief, of course, but in another I just didn’t know what to think. Could I really trust that Dr Mummery had it right?” he says. “I felt very bewildered, unsure of everything and my mood remained low, which is not like me. I’ve always been very upbeat, busy, interested by life.”
When Martin’s confusion and sense of being psychologically displaced did not lift, Dr Mummery referred him on to a clinical psychologist, with whom he has rebuilt his confidence and faith in a good future. “She helped me see that when something like my diagnosis happens, you have to regain the ability to be the person you were before.”
It was tough for his wife as well: “I felt a sense of relief but I had also had to adjust to the idea that Martin would become less and less of the man I knew. A diagnosis like that is such a weight to bear.”
A weight that has been lifted sufficiently, at least, for the couple to be taking a special holiday next month. A full stop at the end of an ordeal, it is, they say delightedly, “a celebration of getting back a life we thought had been taken away”.
‘When misdiagnosis happens, you have to regain the ability to be the person you were’