For patients with rare diseases, the most frustrating part can be getting an accurate diagnosis. They are often lumped in with more common disease types, leading to non-effective treatments and poorer outcomes.
At The Neuro, a group of physicians and researchers came up with a way to crowd-source neurological expertise, giving individual patients a better chance to get accurate diagnoses.
The White Matter Rounds, named for the brain tissue, was developed a few years ago by Dr. Roberta La Piana along with Drs. Bernard Brais, Jack Antel and Donatella Tampieri, and brings together doctors from across North America and Europe to assess rare disease patients who do not fit the mold of diseases such as multiple sclerosis or cerebrovascular disorders. This is done with patients’ consent and all their data and imaging is anonymized.
At first only cases within the McGill hospital network were discussed, but over time the scope grew to include cases across Quebec, Canada and the world. Taking place by video conference, and these days by Zoom, about 25 to 30 clinicians and scientists attend the monthly rounds each time, according to Dr. La Piana.
Better yet, the patients themselves sometimes have the chance to describe their disease to the group.
“I am convinced that, especially in the rare diseases field, patient's participation is crucial,” says Dr. La Piana. “We gather more information by the patient's presentation than by simply reviewing a patient's chart. Sometimes we find even new details previously unnoticed. It benefits the clinicians and researchers too.”
Dr. La Piana gave the case of a woman who presented acute episodes of vision loss for which she underwent a magnetic resonance imaging (MRI) assessment. The discovery of abnormalities at the level of the white matter led her to The Neuro’s Multiple Sclerosis Clinic, but the diagnosis of MS was not convincing. Her case was presented at White Matter Rounds and all participants agreed the patient deserved a genetic assessment.
“She finally got a diagnosis; it was a rare genetic disease,” says Dr. La Piana. “This diagnosis not only benefited her, ending her diagnostic odyssey, but allowed her entire family to have access to genetic counselling.”