Dr. Mark S. Freedman
Director of the Multiple Sclerosis Research Unit, The Ottawa Hospital
In 2009, Jennifer van Amerom was 27 years old, in good health, and happily planning her destination wedding in Mexico. She had no way of knowing that a rare disorder of the brain and spinal column was waiting in the wings to throw everything into chaos.
One day I walked to work and spent the day at my desk, and then when I went to stand up, I had lost all feeling in my lower body,” recounts Jennifer van Amerom. “I went to the ER and they basically told me that I would never walk again. It was total whiplash to go from wedding planning to being unsure of whether I’d even be able to physically walk down the aisle.”
Slowly, through months of physiotherapy, Jennifer did regain the ability to walk, and did eventually walk down the aisle. But, that January, she had a second attack and completely lost vision in her left eye. It was then that she was diagnosed with neuromyelitis optica spectrum disorder (NMOSD), a condition that affects only a few thousand people in Canada.
Incorrect diagnosis leads to incorrect treatment
The disease, originally thought to be a form of multiple sclerosis (MS), has been known for roughly a century. “It turns out to be a very distinctive condition from MS,” says Dr. Mark S. Freedman, Director of the Multiple Sclerosis Research Unit at The Ottawa Hospital. “Both cause optic neuritis and what look like demyelinating lesions, but the cause and pathology are very different. It’s important that physicians be aware of NMOSD so they can differentiate it, because many of the therapies that are effective for MS actually make NMOSD worse.”
If NMOSD is diagnosed early and urgently, as it should be, it’s now very treatable. The end result of leaving this disease untreated is devastating and ends up costing the health system dramatically.Dr. Mark S. Freedman
While MS is a disease that is largely manifested by the body’s T-cells, NMOSD is mediated by antibodies specific to the disease. These antibodies activate protein molecules known as complement, leading to cell death, inflammation, and demyelination. “The antibody that’s generated in NMOSD stimulates complement molecules to come together and form what is essentially a bomb,” says Dr. Freedman. “This bomb, so to speak, then gets into the water channels in the brain and knocks holes in cells there. That, in turn, gets the immune system excited and brings about a destructive immune response.”
Up until very recently, there were no specific therapies approved for NMOSD in Canada, but that’s beginning to change. “Fortunately, we now have a targeted therapy against complement that can reduce attack rates by up to 94 percent,” says Dr. Freedman. “If NMOSD is diagnosed early and urgently, as it should be, it’s now very treatable. The end result of leaving this disease untreated is devastating and ends up costing the health system dramatically.”
Jennifer, now the first Canadian NMOSD patient to have a successful pregnancy, has recently started on one of these new treatments. Today, as a patient ambassador for The Sumaira Foundation, she’s dedicated to helping spread awareness of this rare disease. “I know that better awareness of this condition can save lives,” she says, “especially as we learn how many people have been suffering with wrong diagnoses and incorrect treatment.”
This article was made possible with unrestricted support from Alexion Pharma Canada.