IF YOU’VE RECENTLY gone to the eye doctor with painful vision loss, and you’ve also been experiencing other strange symptoms, you likely have a ton of questions for your physician—and maybe you’re worried they’re downright weird. What’s not weird at all, though? You wanting answers—right now—about what’s going on in your body. And believe it or not, your super “weird” questions just might lead you to a diagnosis of neuromyelitis optica spectrum disorder (NMOSD), a rare autoimmune condition that attacks the optic nerve, brainstem, and spinal cord.
Your Qs may seem as unusual as this disease itself, given that NMOSD affects just one to four people out of every 100,000 in the U.S. each year (the majority of them women). In fact, this condition is unusual enough to sometimes be confused with other inflammatory diseases that target the eyes and everyday mobility, like multiple sclerosis (MS).
Since people with NMOSD can first develop optic neuritis—and you may be one of them—you’re probably aware of the basics of this related condition: ON occurs when the nerve that leads from the back of your eye to your brain becomes inflamed after the immune system mistakenly attacks it as it would a foreign invader (like bacteria or a virus). The protective coating on your nerve fibers, called the myelin sheath, become damaged in the process, so the optic nerve can no longer efficiently send signals to your brain anymore. (This process is known as “demyelination.”)
The resulting pain and loss of clear sight is likely what led you to an ophthalmologist and maybe even a neurologist, who both probably first suspected MS, since initial signs of each condition can be so similar. What’s more, “the most common cause of optic neuritis is demyelination, and the most common demyelination syndrome in adults is multiple sclerosis,” says Andrew G. Lee, M.D., a neuro-ophthalmologist and chair of the Blanton Eye Institute at Houston Methodist Hospital in Houston, TX. That’s why every doctor will ask if you’ve had other symptoms of MS, such as numbness or weakness in your legs or arms, and whether you’ve lost control of your bowels or bladder. But they should definitely be asking about other unusual symptoms, too.
And if they don’t? Well, this is where your not-so-weird Qs come in—and it’s so important that you bring them up, says Dr. Lee. Unlike MS, an NMOSD attack can be more serious, and can even leave you disabled if you don’t get the right treatment ASAP. “The weird questions are the ones that don’t sound like nerve disease, but they are,” he explains. What’s more, “they’re not typical for nerve disease from demyelination by MS.” They may even help tip off an NMOSD diagnosis.
Are you ready to get weird? Here we go:
Weird Question #1: “Are prolonged hiccups a clue to my diagnosis?”
Why it seems weird: Most of us don’t connect hiccups with the brain. (Why would we? Hiccups are a contracting diaphragm thing, right?) But get this: Located in the medulla, the lower part of the brain stem, is the area postrema. “It’s the vomit center in your brain stem,” says Dr. Lee, and it controls vomiting, nausea, and hiccups when it gets signals from other parts of the body (like the gastrointestinal tract).
What Dr. Lee says: “Doctors want to know if you’ve had an episode of what’s called ‘intractable’ hiccups—hiccups go on for at least 30 days.”
What hiccups have to do with NMOSD: During an NMOSD attack, the immune system targets a particular protein called the aquaporin-4 (AQP-4) water channel. “It’s a water channel that’s almost exclusively in the central nervous system, and AQP-4 tends to cluster in certain parts,” explains Caroline Goldschmidt, D.O., a neurologist at the Cleveland Clinic in Cleveland, OH. “So the optic nerve is one of those places, the spinal cord, and then these specific areas in the brain, like the area postrema.” And when antibodies attach themselves to these areas rich in AQP-4 and destroy these proteins, it causes inflammation and leaves behind scars, or lesions, if the damage is severe enough. If this happens in the area postrema, one symptom are these long-lasting, uncontrollable hiccups, which eventually do go away on their own.
Weird Question #2: “I’ve felt queasy or vomited for weeks at a time. Could this be a red flag?
Why it seems weird: Queasiness and upchucking seem more stomach- or GI-related—and so you’d probably head to your primary provider to uncover the cause.
What Dr. Lee says: “A lot of people just have nausea and vomiting, but we use the ‘intractable’ word again. But instead of it being intractable for 30 days like hiccups, it’s intractable because the nausea doesn’t have another cause and it doesn’t go away.” (With NMOSD, you don’t always have to throw up—just feeling consistently queasy for longs spells or dry-heaving is enough.)
What it has to do with NMOSD: Like intractable hiccups, intractable nausea is considered one of the classic syndromes of NMOSD, says Dr. Goldschmidt. “We call it area postrema syndrome and it’s due to a lesion in an area of the brain stem that controls nausea,” she explains. “We always ask about that in a patient’s history if we’re concerned about neuromyelitis optica. Or, if we hear of somebody with that history, we will always check for NMOSD,” Dr. Goldschmidt notes.
Weird Question #3: “I’ve had daytime sleepiness for months. Is this related my condition?”
Why it seems weird: You’re busy. Life is stressful. Of course you’re tired. Who isn’t these days?
What Dr. Lee says: You may have narcolepsy, a brain disorder that interrupts the regular sleep-wake cycle. “So the questions that we ask are [about] excessive daytime sleepiness for more than three months,” says Dr. Lee, meaning you’re so drowsy it’s impossible to stay awake. “And then we have cataplexy, which is like narcolepsy, except you fall asleep under stress or emotion, and then you just collapse.” Dr. Lee also looks for such other hallmarks of narcolepsy as waking up many times at night or having obstructive sleep apnea.
What it has to do with NMOSD: The hypothalmus, located right above the brain stem, is also rich in AQP-4 and so can be a target when the immune system goes haywire. Narcolepsy isn’t one of the more common NMOSD symptoms, but it can happen when you have have lesions the area of the hypothalamus called the diencephalon, says Dr. Goldschmidt. “That controls more of our wakefulness and the circadian clock and things like that. So if somebody had lesions on both sides of the brain, you could see that symptom,” she says.
Of course not everyone with undiagnosed NMOSD will experience such symptoms before they develop optic neuritis. Most of the time there’s no pattern for what type of attack happens first, says Dr. Goldschmidt: “It just depends on where the damage occurs in the nervous symptom.” But for some NMOSD patients, these questions can be a tip-off, both research and Dr. Lee suggest.
Your physician will probably order an MRI and bloodwork to confirm the diagnosis, but, again, NMOSD can be tricky if doctors don’t know what they’re looking for. If you have NMOSD, you’ll have longer-than-usual lesions on your optic nerve and/or spinal cord, says Dr. Lee. You may have them in your area postrema and hypothalamus, too, but not in other parts of the brain (which is more typical of MS). The lab test will reveal whether or not you have AQP-4 or MOG antibodies, the ones that most NMOSD patients have.
It can take two weeks to get lab results, which is why bringing up all your symptoms, even those you think have nothing to do with your eyes, can make a huge difference in your recovery—and prevent future attacks. That’s why Dr. Lee is on a mission to let other ophthalmologists—as well as people with “weird” questions—know about NMOSD, as you can see in this video.