He was told he had the N.B. 'mystery illness.' But a 2nd opinion says no as doubts swirl about diagnoses
Patients’ cases focus attention on possible gaps in province’s health-care system
When Luc LeBlanc received a phone call from his family doctor in March 2021 telling him he had a neurological illness — and it was terminal — his world crumbled.
"I knew I had something wrong cognitively," said LeBlanc, 41, of Dieppe, N.B. "I was falling, I was having multiple episodes of passing out and cracked three ribs. I reached out to my family doctor to say, 'We need to push neurologists any way possible because I can't live like this.' "
LeBlanc became part of a cluster of 48 New Brunswick residents diagnosed with a neurological condition of unknown cause, a medical enigma dubbed a "mystery illness."
He kept pushing, however, for a second opinion and last week travelled to Toronto for an appointment at the University Health Network's Krembil Brain Institute.
WATCH: "The cluster: New Brunswick's mystery illness" on The Fifth Estate on CBC-TV Thursday at 9 p.m. and stream on CBC Gem.
After about 16 hours of assessments over three days with neurologists and neuropsychologists, he had some answers.
"The good news for Luc is that we can say that he doesn't have this rapidly progressive neurodegenerative disease," said Dr. Lorraine Kalia, a neurologist and scientist specializing in Parkinson's disease and movement-related disorders.
WATCH | A patient describes his symptoms:
Kalia is quick to caution that "all we can speak to is Luc," noting he is the only person from those in the cluster whom they've assessed. There's no doubt LeBlanc has a lot of neurological difficulties, she said, but they are likely related to a concussion he suffered in 2018, as well as anxiety he has been dealing with throughout his life.
While last week's diagnosis gave LeBlanc some understanding of his own condition, questions remain about whether the cluster actually exists.
Those questions also come as concerns heighten inside and outside the provincial government over longstanding shortcomings many see in New Brunswick's health-care system.
"We need more recruitment. We need better retention of physicians, but we also need the dollars put in place to enhance the health-care system," said Mark MacMillan, president of the New Brunswick Medical Society, the professional association for doctors in the province.
"Access could certainly be improved. Wait times are too long for many appointments that need to be seen by a specialist, but that's not just a problem in New Brunswick," he said, noting it's a problem across Canada that needs to be addressed by increasing health transfer dollars from the federal government to the provinces.
Patients range in age from 18 to 85
From late 2019 onward, LeBlanc and 47 other New Brunswick residents were identified as being part of a cluster of patients with a "progressive neurological syndrome of unknown etiology." That cluster was first identified by Moncton neurologist Dr. Alier Marrero. The people range in age from 18 to 85. They are men and women, with the majority living in Moncton. Others are in the Acadian Peninsula and on the north shore, close to the Quebec border.
The first case was retroactively discovered by Marrero in 2015. By 2019, there were 11 cases displaying similar symptoms. By the following year, the count doubled to 24. By June 2021, 48 people were identified, the vast majority by Marrero. Six of the cluster had died.
In March 2021, news of the cluster made headlines after a memo from the province's chief medical officer of health to physicians and other health-care professionals was leaked to the media.
"If you have patients who you feel may meet the case definition for this novel neurological syndrome, please send a clinical referral to Dr. Alier Marrero at the Mind Clinic," the memo said. The clinic is run out of The Moncton Hospital.
The symptoms were similar to Creutzfeld-Jacob disease (CJD), a rare and fatal brain wasting disorder, and included visual hallucinations, muscle twitching and aggression.
An interim report released last week by the New Brunswick government revealed the number of deaths had risen from six to nine and that there were no known factors such as food, place of home or work that could be linked between the cases.
Autopsies for those who died revealed findings including Alzheimer's, Lewy body dementia and cancer, and, according to Health Minister Dorothy Shephard, represent a group of "misclassified diagnoses."
Shephard told The Fifth Estate provincial health officials reporting that there was an unknown neurological illness "was really a little premature." In her opinion, she said, she does not believe there is a cluster.
More clinical review is necessary, she said, and another report will be released in January.
As LeBlanc watched Shephard speaking last week, he said the province needs to be open-minded to a new disease.
"They … don't want to create panic, but they create panic."
The man behind the mystery
At the centre of the unknown illness is Marrero, a neurologist in Moncton. Born in Cuba, he received a medical degree from Universidad Nacional Pedro Henríquez Ureña in the Dominican Republic in 2000. He completed his residency in neurology at Laval University in Quebec in 2010.
That same year, Marrero moved to Moncton, where he helped identify the province as having some of the highest rates of multiple sclerosis in Canada. Marrero had concerns about how New Brunswick was relatively underserviced in terms of MS research and the difficulty sufferers had in gaining access to care.
His work led him to cross paths with scientists at the Creutzfeldt-Jakob Disease Surveillance System — an arm of the Public Health Agency of Canada. With their input, dating back to 2019, he began developing a case definition for a "progressive neurological syndrome of unknown etiology" — the unknown illness he was diagnosing in patients.
While Marrero accepts he could be wrong, he says he is convinced there is a cluster and that the diagnoses from the autopsy findings should not rule that out.
Watch | N.B. neurologist wants patients to feel hopeful:
"Complex problems don't have easy solutions," he said in an interview with The Fifth Estate. "I am confident we will find the cause and we will find a way of dealing with it, hopefully a treatment, hopefully a way of avoiding it."
Jill Beatty, who was told her father was part of the cluster, describes Marrero as an empathetic and calm presence in their storm. Her trust in Marrero has not wavered.
"We were … so scared, and we had no idea what we were dealing with."
Marrero has diagnosed 48 people, but said he is treating more than 100 patients with symptoms at the Moncton clinic.
"As a physician, I try to open to them a door of hope that is meaningful hope. And as a scientist, I'm interested in discovering what is causing this problem."
Difficulties navigating the system
Like many people in the cluster, LeBlanc has had difficulty navigating the health-care system.
Three years ago, he was in a car accident and suffered a concussion. He began experiencing mobility and balance issues, muscle spasms and brain fog. His world spiralled downwards, and he hasn't worked since. He had to wait two years to see a neurologist.
"I think that demonstrates a lack of access to neurology that we all experience across the country," Kalia said after LeBlanc's assessment in Toronto.
As part of LeBlanc's earlier treatment, he did physiotherapy for at least seven months, but saw no improvement. A visit to his physician landed him in Nova Scotia to see an eye doctor specializing in head trauma. He was given prism glasses and told to go to a specialized physiotherapy facility in Amherst, N.S. He had one appointment and then COVID-19 hit. His remaining appointments were virtual.
"It just wasn't the same."
In interviews with The Fifth Estate, several people within the cluster and those who wonder if they have the unknown syndrome describe long waits to see specialists. Often, they feel they are dismissed by practitioners and left with nowhere to turn.
A discussion paper released by the New Brunswick government earlier this year outlines a need for better patient-centred care, including shorter wait times for surgery and faster access to appointments.
The report said while 90 per cent of New Brunswickers have a family doctor, only 55 per cent are able to get an appointment within five days.
As his cognition declined, LeBlanc said he couldn't get a clear diagnosis or a practitioner who had the time to "look at the full picture…. Somebody dropped the ball somewhere."
Doubt starts to surface
LeBlanc met Marrero in January 2021, and by mid-March he was told he was part of the cluster. He started making end-of-life plans: extra life insurance, care for his children and looking for a coffin. But one thing stood out to him: he was not physically declining like others in the cluster.
He had reached out to one of the youngest, Gabrielle Cormier, 20, and could see the intensity of symptoms was different. He could drive and dress himself. His memory wasn't too bad. He could go to the gym and lift light weights.
Meanwhile, Cormier, of Dalhousie Junction, once an avid skater with dreams of becoming a pathologist, was walking with a cane and sometimes relying on a wheelchair.
The difference between his symptoms and Cormier's, coupled with his family's doubt, left him uncertain. LeBlanc asked Marrero why he was a "confirmed case."
"It's kind of hard when, you know, a lot of people are saying it's all in your head, but is it?"
When asked by Radio-Canada's Enquête about LeBlanc's case, Marrero said he could not comment.
Detailed review urged
While LeBlanc had his doubts about being part of the cluster, some neurologists, including Dr. Valerie Sim, believe a detailed review of cases of those identified with the unknown neurological illness is paramount.
"My goal in raising skepticism is simply to balance the discussion," said Sim, a professor of neurology in the Centre for Prions and Protein Folding Disease at the University of Alberta. She said an open mind must be kept to the possibility that there isn't a syndrome.
The extreme age range of those who were diagnosed with the unknown illness and their broad symptoms make it impossible to conclude anything, she said.
"Are we doing them a disservice by assuming that they all fit into the same pocket? Or could they actually have separate things which each might require different investigations and different treatments?"
Kat Lanteigne, a Toronto-based public health advocate, has concerns that while the N.B. government focuses on the lack of links between cases, the search for a root cause will be overlooked.
"When … you start drafting a narrative and you start shutting out the experts, so no science can happen, those are massive ethical boundaries that are being crossed."
Marrero, however, still believes a cluster exists.
"I'm ringing a bell," he said, quoting his favourite musician, Leonard Cohen. "He said there is a crack in everything, that's how the light gets in. It's a truth for anything new in science.… And I hope [the light] will."
'Hard for us to make conclusions'
While LeBlanc may have another diagnosis, that doesn't eliminate so many questions that exist around the mystery illness.
"It's hard for us to make conclusions about what we weren't a part of," said Kalia, the Toronto neurologist. "We didn't see Luc as a team two years ago. And so it's hard to know what kind of pieces to the puzzle his physicians had at that point in time to make that conclusion."
As for LeBlanc, he describes a weight lifting off his shoulders. He has gone from believing his life was ending to imagining possibilities. "It's a big shock."
He also vows to continue supporting people he has met through a social media support group for those who have received a diagnosis of the unknown illness, for their friends and family and others who believe they may have it.
"I'm lucky. I was dying. Now I'm not. But I want to help and support people if they want to talk."
With files from Karissa Donkin and Maeve McFadden