file404/shutterstockThe patient: Olivia*, a 24-year-old university student
The symptoms: Hiccups, headache, and vomiting
The doctor: Dr. Anthony Traboulsee, a neurologist at UBC Hospital in Vancouver
Three years ago, Olivia began hiccuping—and couldn’t stop. The bouts, which lasted up to an hour, would dissipate for a similar amount of time, then reappear. Her head ached. A couple days later, she started vomiting. A hospital visit resulted in anti-nausea pills, but the queasiness didn’t stop. Because throwing up can signal a brain tumor, her next trip to the ER two days later led to a CT scan (the results were negative), and a lumbar puncture to rule out meningitis. Watch out for these other silent signals you might have a brain tumor.
A couple days after that, Olivia’s vision blurred, and she had trouble getting out of bed. Still stumped, doctors put her on antibiotics in case her problems were the result of an infection, then monitored her in the ICU. By the next morning, Olivia couldn’t see and was paralyzed from the neck down.
“She was fully awake and aware and very frightened,” says neurologist Dr. Anthony Traboulsee, who was called in after an MRI revealed evidence of inflammation, swelling, and damage along Olivia’s brain stem and spinal cord.
Other doctors suspected acute disseminated encephalomyelitis (ADEM), a brief, intense inflammation in that area, resulting from a bacterial or viral infection. But ADEM is more common in children and is often mistaken for multiple sclerosis—which is itself often confused with neuromyelitis optica (NMO). Traboulsee suspected this last condition was the culprit.
Much like MS, NMO is a relapsing inflammatory disease that occurs when a person’s immune system attacks the cells in their central nervous system. It affects the optic nerves and spinal cord, and sometimes the brain.
The disease is rare—while about 100,000 Canadians have MS, only about 1,000 have NMO, Traboulsee estimates. “It’s more aggressive than MS, like a forest fire raging through the nervous system,” says the doctor.
Symptoms can include blindness, weakness or paralysis, spasms, vomiting, hiccups and loss of bladder or bowel control due to spinal cord damage. Also, watch out for this scary disease that you might be able to catch from your kitchen sink.
Traboulsee sent the patient’s blood to the only lab in Canada equipped to diagnose NMO but didn’t wait the two weeks to hear back. Without treatment—ideally within 48 hours after symptoms appear—most NMO sufferers wind up in long-term care.
The doctor immediately started Olivia on a plasma exchange to target the inflammation. A day or two later, she could see shapes and wiggle her fingers and toes. He added in chemotherapy, and Olivia’s recovery was quick and dramatic.
“The plasma exchange removes the sparks, but the chemotherapy puts out the fire by removing the abnormal immune cells that are creating the destructive antibodies in the first place,” Traboulsee explains.
After a week of receiving the combined treatment, Olivia regained her sight and could walk again. She’s now on preventive treatment for the rest of her life, and takes azathioprine, an immunosuppressant, twice a day. There is no cure for the condition, and without ongoing treatment, recurrence is 100 percent.
“Like with any rare illness, the key is early treatment and preventive care so people can lead normal lives,” Traboulsee says.
But not every doctor is aware of every rare disease. “Because NMO is frequently misdiagnosed and can be suddenly severe, patients are sometimes written off. We can rescue them and give them their lives back,” says Traboulsee.
Next, learn the amazing story of this coma patient who heard his family debating taking him off life support.
*Name changed to protect patient privacy