Doctors in Canada have met patients with symptoms similar to Creutzfeldt-Jakob disease, a rare fatal disease that attacks the brain. But when they took a closer look, what they found left them bewildered.
Almost two years ago, Roger Ellis collapsed at his home with a seizure on the occasion of his 40th wedding anniversary.
In his early sixties, Mr. Ellis, who was born and raised in the bucolic Acadian Peninsula of New Brunswick, was in good health until June and was enjoying his retirement after decades of working as an industrial mechanic.
His son, Steve Ellis, says that after that fateful day his father’s health rapidly declined.
“He had delusions, hallucinations, weight loss, aggression, repetitive speech,” he says.
“At one point he couldn’t even walk. So within three months we were taken to the hospital to tell us that they believed he was dying – but no one knew why.
Roger Ellis’ doctors first suspect Creutzfeldt-Jakob disease [CJD]. CJD is a human prion disease, a fatal and rare degenerative brain disease that sees patients with symptoms like poor memory, changes in behavior, and difficulty in coordinating.
One widely known category is variant CJD, which is linked to the consumption of contaminated meat infected with mad cow disease. CJD also belongs to a larger category of brain disorders like Alzheimer’s disease, Parkinson’s disease, and ALS, in which proteins in the nervous system misfold and aggregate.
But Mr Ellis’ CJD test came back negative, as did the barrage of other tests his doctors gave him as they tried to determine the cause of his illness.
Her son says the medical team have done their best to alleviate his father’s varied symptoms, but they are left with a mystery: What is behind Mr. Ellis’ decline?
In March of this year, the youngest Mr. Ellis came across a possible answer, albeit partial.
Radio-Canada, the public broadcaster, obtained a copy of a public health note that had been sent to health professionals in the province warning of a group of patients with unknown degenerative brain disease.
“The first thing I said was, ‘It’s my dad,'” he recalls.
Roger Ellis is now believed to be among those with the disease and in the care of Dr Alier Marrero.
Neurologist at the Center hospitalier universitaire Dr. Georges-L-Dumont in Moncton says doctors first discovered the puzzling disease in 2015. At the time, it was a single patient, an “isolated case and atypical, ”he says.
But since then there have been more patients like the first one – enough that doctors can now identify the cluster as a different “never seen before” condition or syndrome.
The province says it is currently tracking 48 cases, split evenly between males and females, aged 18 to 85. These patients are from the Acadian Peninsula and Moncton regions in New Brunswick. Six people are believed to have died from the disease.
Most patients have started to experience symptoms recently, starting in 2018, although it is believed to have had symptoms as early as 2013.
Dr Marrero says the symptoms are very varied and can vary from patient to patient.
At first, there may be behavioral changes like anxiety, depression, and irritability, as well as unexplained pain, muscle aches, and spasms in previously healthy people.
Often, patients develop difficulty sleeping – insomnia or severe hypersomnia – and memory problems. There may be rapidly progressing language disorders that make it difficult to communicate and have a fluent conversation – issues like stammering or repeating words.
Another symptom is rapid weight loss and muscle wasting, along with visual disturbances and problems with coordination and involuntary muscle contractions. Many patients require the assistance of walkers or wheelchairs.
Some people develop disturbing hallucinatory dreams or waking auditory hallucinations.
Several patients have presented with transient “Capgras delirium”, a psychiatric disorder in which a person believes a loved one has been replaced by an impostor.
“It’s quite disturbing because, for example, a patient would say to his wife, ‘Sorry ma’am, you can’t go to bed, I’m married’ and even though the woman gives her name, he’d say, ‘You aren’t. not the real ones, ”says Dr Marrero.
The Moncton neurologist is leading the investigation into the disease, with help from a team of researchers and the Federal Public Health Agency.
Suspected patients undergo prion disease tests and tests for genetic conditions, panels examining autoimmune diseases or forms of cancer, and screenings for things like viruses, bacteria, fungi, metals heavy and abnormal antibodies.
They are asked about environmental factors, lifestyle exposures, travel, medical history, and sources of food and water. They undergo lumbar swabs to test for various possible infections and disorders.
There is no treatment besides helping to relieve the discomfort of some of the symptoms. For now, the theory is that the disease is acquired and not genetic.
“Our first common idea is that there is a toxic element acquired in the environment of this patient which triggers the degenerative changes,” explains Dr Marrero.
University of British Columbia neurologist Dr. Neil Cashman is one of the researchers trying to unravel the medical mystery.
Although patients show no evidence of known prion disease, it has not been completely ruled out as a cause, he says.
Another theory is chronic exposure to something called an “excitotoxin” such as domoic acid, which was linked to a food poisoning incident in 1987 caused by mussels contaminated with the toxin from the neighboring province of l. ‘Prince Edward Island.
In addition to gastrointestinal disturbances, about a third of those affected had symptoms such as memory loss, dizziness, confusion. Some patients fell into a coma and four died.
Dr Cashman says they are also studying another toxin – beta-methylamino-L-alanine (BMAA) – which has been implicated as an environmental risk in the development of diseases like Alzheimer’s and Parkinson’s.
BMAA is produced by cyanobacteria, commonly known as blue-green algae.
Some researchers also believe that BMAA is linked to a neurodegenerative disease documented in a native population of the US island territory of Guam in the mid-20th century and found in seeds that were part of their diet.
Dr Cashman cautions that the current list of theories “is not complete”.
“We have to go back to first principles, to go back to square one,” he said. “At this point, nothing can be ruled out.
So how many more people could be affected by this disease?
Dr. Marrero says it’s possible this is a larger phenomenon that lies outside of the two regions – the Acadian Peninsula, with its fishing communities and sandy beaches, and Moncton, a city center – where patients have currently been identified.
“Are we seeing the tip of the iceberg? Maybe, ”he says. “I hope we can capture this very quickly so that we can stop this.”
While those who live in affected communities are naturally concerned, Dr Marrero urges people to “work with hope, not fear. Fear paralyzes ”.
Roger Ellis’s condition has stabilized since the early rapid progression, his son says.
He is in a nursing home and needs help with his daily activities and has speech and sleep problems.
Steve Ellis, who runs a Facebook support group for families affected by the disease, said he wanted government officials to commit to being transparent about the disease.
Most of all, he wants to know what made his father fall ill.
“I know they’re working on this, but how did it happen?” he says.
“As a family we are very aware that he is likely to die from it, and we just hope that whether it happens before or after his death, these are answers – and a responsibility if that is anything.” that could have been avoided. “