He was told he had the N.B. 'mystery illness.' But a 2nd opinion says no as doubts swirl about diagnoses

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.

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. 

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.