Lakeshore mother frustrated by lack of awareness of 'invisible illness'

The first signs of trouble started when Nathan June woke up one morning with a stutter. Within days, the two-year-old couldn't talk at all. He could only communicate by making grunting noises.

Several years later, his younger brother, Mitchell, developed similar symptoms around the same age. After seeing more than 20 doctors — family physicians, pediatricians, social workers and psychologists — the brothers were finally diagnosed with a rare disorder that doctors are reluctant to even talk about.

Being diagnosed with PANDAS, the acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections, often leaves families like the Ducharmes in a desperate search for answers because many doctors refuse to accept it as a disorder. 

They seem to believe this is some kind of a myth, that we're crazy parents going after this. It's very frustrating the hubris that's out there.- Josh Ducharme

"To the outside world, it's very hard to see. It's an invisible illness," said Nathan and Mitchell's mother Jennifer Ducharme. "It feels like we're feeling our way through a dark tunnel."

Rare diagnosis

PANDAS is a diagnosis used to describe a subset of patients who have obsessive compulsive disorder and/or tic disorders, which are worsened following strep infections, according to the U.S National Institute of Mental Health.

The term came about when health investigators found some children had an unusually abrupt onset of symptoms, which can range from difficulty talking, and irregular behaviour like slamming heads against a wall. 

Because PANDAS is a clinical diagnosis, there is no way to test for the disorder, which is a large part of the controversy, said Dr. Lenna Morgan, chief of pediatrics at Windsor Regional Hospital.

Doctors who support a PANDAS diagnosis do so because there is enough evidence to show that some patients get a strep infection, followed by the sudden onset of obsessive compulsive disorder or tics disorder, Morgan explained. 

"That kind of cause-and-effect correlation suggests there probably is a true association," she said. "Some people are still skeptical there's a true association. That's why it's controversial."

One particularly "traumatic" moment for the Ducharme family occurred when Mitchell tried to jump out of the family's car, while mom was driving. 

Still, getting the diagnosis was a monumental challenge.

"We've seen doctors who have not only never heard of [PANDAS], some have heard of it and are actually angry when you bring it up," said Josh Ducharme, the boys' dad. "They seem to believe this is some kind of a myth, that we're crazy parents going after this. It's very frustrating the hubris that's out there."

Lengthy search for diagnosis

Jennifer recalls calling a Windsor doctor's office asking if they treated PANDAS. The receptionist responded by asking if Jennifer was talking about the "black and white bears."

"That's when it occurred to me ... we're in for a long run here," Jennifer said. 

Some doctors, early on, said the symptoms were likely from severe anxiety or possibly obsessive compulsive disorder. Jennifer and Josh quickly grew frustrated by the lack of answers. 

And then, in January 2016, the family finally made progress with a doctor in Chatham. She diagnosed Mitchell with PANDAS and Nathan with PANS, a subset of PANDAS.

"Within our first visit, we had our diagnosis — both boys," Jennifer said.  

Ducharme has joined several support groups through social media and says she's connected with several families online.

"One of scariest things is there's new families popping up everyday it seems — Help us. Where do we go? Who do we see? Where do we get referred to?" Jennifer said. "Parents are diagnosing their children before any medical professional is, and that to me is just unacceptable."