Some young patients are growing frustrated waiting for the New Brunswick government to release the second part of its investigation into what is making them sick.
Terriline Porelle was at work during the summer of 2020 when she had a sharp pain in her leg. She assumed it was a pinched nerve.
She had no idea it was the first indication she might be suffering from a mysterious, fatal neurological illness.
Things got worse, though. Once an enthusiastic outdoor adventure-seeker, Porelle now bumps into walls and doors making her way around her house in the southeastern New Brunswick community of Cocagne.
It has been a long road for the 33-year-old since that first shot of pain. A road that eventually led to a cluster of 48 patients with a neurological syndrome of unknown cause in New Brunswick.
Porelle’s symptoms have dimmed a bright young lifestyle — something true for other young people facing the same diagnosis.
According to the Department of Health, nine of the cases, or about 20 per cent of the cluster, are under the age of 40, CBC News has learned.
Porelle is hoping the province’s report on its clinical review of the cluster, expected later this month, will hold answers to her questions about what is making her sick.
The syndrome was identified in a March 2021 memo from the office of the chief medical officer of health, which stated, “Preliminary investigation conducted in late 2019/early 2020 determined this to be a distinct atypical neurological syndrome.”
In the memo leaked to Radio-Canada, New Brunswick health-care professionals were advised of a new neurological illness that had affected a cluster of people, including some as young as 18, in the Moncton and Acadian Peninsula regions.
Public Health won’t release a breakdown of the ages of members of the cluster, citing privacy, but has previously reported patients range in age from 18 to 85.
The average age of the women in the cluster is 54 years, and of the men it’s 62. Nine patients, whose ages are not being released, have died.
Dr. Alier Marrero, who identified 46 of the 48 cases, says the number of younger patients and the types of symptoms they face are “worrisome.”
Symptoms range from balance issues and muscle spasms to behavioural changes and memory problems.
Porelle developed many of those symptoms. Soon after the pain in her leg stopped, she noticed muscle spasms. First it was her eyelids, then her toes, and her fingers. Then she noticed what she calls a brain fog.
“It took me longer to connect dots and to just do daily stuff was harder, like cooking a meal.” Porelle said she mistakenly put her hand into hot spaghetti and burned herself.
But it wasn’t until one day at work when she forgot how to write the letter “Q” that she thought “OK, like, this is not normal,” she said.
“I tried my best, and I did a circle with just a line on the top. It looked like an apple. That was my red flag.”
Her eyesight changed and tests showed the muscles that allow the eye to focus were spasming. Her optometrist told her “you usually only see that in much older people.”
Porelle started to bump into doors and furniture while walking. She lost weight inexplicably and struggled with insomnia. She became forgetful.
“One morning, I couldn’t figure out how to use the warm water in the bathroom,” she said. “I had to go into the kitchen where there’s like a little blue and a little red thing that tells you which side it is.”
Within six months the symptoms were so bad that, with the help of family and friends, she paid thousands of dollars for an MRI at a private clinic. But the results offered no clues. Her family doctor referred her to a Moncton neurologist who she said was known to be good with neuromuscular diseases, Dr. Marrero.
Under Marrero’s care, Porelle went through months of medical tests. Each test ruled out a possible diagnosis.
“We know it’s not cancer,” she said. “We know it’s not Parkinson’s, we know it’s not ALS.” Porelle described those results as a relief.
Marrero eventually diagnosed her with the mystery neurological syndrome.
“That was kind of the silver lining,” said Porelle, who is one of the 48 patients in the cluster.
Last June, the New Brunswick government began to refer to the mystery illness as a “potential” syndrome. It capped the cluster of cases at 48, but Marrero continues to see new patients at the Moncton Interdisciplinary Neurodegenerative Diseases clinic, known as MIND. He said he is treating more than 100 people he has diagnosed with the syndrome.
The province’s investigation of the illness is divided into two parts, each independent of the other. The first part was made public in October, when New Brunswick Public Health released an epidemiological review of its investigation into the cluster of cases based on the results of a questionnaire completed by 34 patients.
The survey was to help determine if there was an environmental or infectious source of the syndrome. The questions touched on areas such as the food the patients have eaten, their recreational activities and their occupational history.
No environmental or food risk factors in New Brunswick are linked to neurological illness, report finds
Health Minister Dorothy Shephard said the results showed there is no reason to believe there is something in the environment that is linked to the illness. Shephard also said there is now “significant reason” to question the validity of an unknown brain disease in the province.
The second part of the investigation is a clinical review of each of the patients in the cluster. An oversight committee including six New Brunswick neurologists is expected to release its findings in the coming weeks, about eight months after beginning the review.
In an interview with Radio-Canada in October, Marrero, who is not part of the oversight committee, said he is seeing an increasing number of younger patients with rapidly progressive neurodegenerative syndrome.
Those cases include severe muscle atrophy, involuntary movements, brain atrophy demonstrated on MRIs, and dementia ataxia.
“It’s totally unexpected to have any of this at this young age and this many people in a small province and in small areas of a small province.”
Dr. Lesley Fellows is a neurologist with the Montreal Neurological Institute and Hospital and a professor with the department of neurology at McGill University. She is not a part of the investigation of the syndrome in New Brunswick but said that generally, the age of a patient is an important factor when diagnosing a neurological illness.
“We give the patient’s age as the first piece of information because, in general, that age really sets up a list of possibilities.”
In the case of dementia, the older the patient the more likely Alzheimer’s disease is a possible diagnosis. For younger patients that diagnosis is less likely.
“The likelihood that an 18-year-old has Alzheimer’s disease is vanishingly small,” she said. “So yes, some sort of base rate of any given condition is really affected by age for many conditions.”
Gabrielle Cormier, 20, of Dalhousie Junction, felt her health take a turn for the worse during her first term at university in September 2019.
Doctors at the emergency department were unable to find anything wrong with her.
“I kept on studying and walking through campus in pain and in extreme fatigue,” she said.
Cormier’s family doctor referred her to Marrero when she was home on Christmas break, and within a month, she had her first appointment. By that time she was having problems with her vision.
“I literally couldn’t read.”
Cormier decided to quit university. She spent the next several months in and out of the hospital being tested for different illnesses. She tried several treatments for Wilson’s disease, a rare genetic disorder, as well as autoimmune diseases.
None of them worked. Her symptoms continued to get worse, and she started having trouble with balance and overall mobility. By mid-April 2021, she was included in the cluster of 48.
Although she can still walk short distances with the aid of a cane, Cormier depends on a wheelchair. Her memory is also an issue.
“I forgot three of the letters of the alphabet,” she told CBC’s The Fifth Estate in an interview. “It’s funny but it’s not funny.” Cormier’s scores on memory tests are not good. “I’m like, borderline getting dementia.”
Cody Gallant of Moncton is one of the younger cases at the MIND clinic, though the province doesn’t consider him part of the cluster.
Gallant, 21, said Marrero diagnosed him with the syndrome in May. As a high school football player, he suffered several concussions on the field and struggled with headaches. The headaches became worse, and he developed new symptoms last year.
Gallant has trouble sleeping, hallucinations and severe muscle spasms and has lost about 100 pounds. He is no longer able to work, and his dream of becoming a mechanic is on hold.
“Honestly, it really sucks because I can’t do anything at all,” said Gallant, whose memory is affected. “I can have a conversation with someone and forget it, like five minutes later.” Everyday tasks are getting harder for him to do.
Luc LeBlanc of Dieppe is one of the younger patients in the cluster whose case may cast doubt on the accuracy of the 48 diagnoses. He struggles with mobility and balance issues, muscle spasms and brain fog and is no longer able to work.
LeBlanc was 39 when he was diagnosed with the disease. He was told his brain is “like somebody of an eighty-year-old.”
That initial diagnosis was crippling for him.
“I’ve walked on pins and needles without knowing if I’m going to wake up the next morning.”
Despite his diagnosis, LeBlanc questioned why his illness was not progressing as quickly as the others in the cluster. He decided to seek a second opinion at the University Health Network’s Krembil Brain Institute in Toronto.
He met with Dr. Lorraine Kalia, a neurologist with the institute.
“I think his age, obviously, is an important factor,” Kalia said. “A young, healthy 40-year-old man who’s now so debilitated.”
LeBlanc underwent 16 hours of testing over three days with neurologists and neuropsychologists at the clinic, a journey followed by The Fifth Estate.
Kalia said the test results show LeBlanc does not have a rapidly progressive neurodegenerative disease. His symptoms are related to a concussion he suffered from a car accident three years ago and anxiety he has been dealing with throughout his life.
The diagnosis helps LeBlanc understand his own condition, but Kalia is quick to caution that “all we can speak to is Luc.”
Figuring out a diagnosis can be frustrating and frightening for patients. “Neurology is complex,” she said.
“Unfortunately, we don’t know everything about the brain yet and we don’t know everything about brain disease.”
Public Health says that before the oversight committee releases its clinical review of the cases in the cluster, it will send a letter to each patient’s primary care physician with its conclusions or recommendations for further clinical review.
It will also send a letter to the patients advising them to contact their primary care physician to discuss their case, so that each person has the opportunity to have a private consultation with their physician before any reports are shared publicly.
The province has asked the patients of the cluster and their families to be patient.
For the young patients living with this illness, this is an especially difficult task.
Cody Gallant wants to start working again. He lives with his parents and is dependent on family and friends for support.
“You feel like you live the same day every single day.”
Terriline Porelle and Gabrielle Cormier are now taking steps to get second opinions as well.
Cormier will go to Toronto in March to also visit the Krembil Brain Institute. She will be seen by a neurologist at the Movement Disorders Clinic and will undergo three days of testing by neuropsychologists, neurophysiologists and other medical professionals.
Porelle is considering her options to find a neuropsychologist outside New Brunswick or even Canada.
In December she was referred to a neuropsychologist through Public Health, she believes as part of the clinical review process. After four hours of testing, the neuropsychologist’s hypothesis is that Porelle has PTSD — a result that has left her even more confused about her illness and the province’s investigation.
She no longer wants to wait for the province to provide answers.
“For the people suffering and living through it, it’s quite real,” Porelle said. “I’m stable now, but for how long? What comes next for me? I don’t know.”