Maybe you wound up in the ER because you suddenly couldn’t see out of one or both eyes. Or perhaps you felt painful muscle spasms just trying to move your arms or legs. Or maybe you woke up with uncontrollable hiccups, nausea, and vomiting that wouldn’t let up. Regardless of which scenario is like yours, we bet your thinking was the same: Something is seriously wrong here, and I need help.
That something has a name: neuromyelitis optica spectrum disorder (NMOSD). And, while rare, this condition, which affects approximately 15,000 people in the U.S., is known for symptoms such as vision loss or even blindness, weakness, muscle spasms, serious mobility issues, and, sometimes, permanent paralysis. “Symptoms usually come on over 24 to 48 hours and last for days to weeks, if not months,” says Oliver Tobin, M.B., associate professor of neurology at Mayo Clinic College of Medicine in Rochester, MN.
While this autoimmune disorder can appear out of the blue, NMOSD can have long-lasting health ramifications. Here’s what to expect if you’re being screened for NMOSD, or are newly diagnosed.
Before Diagnosis: Testing, Testing, Testing
If your doctor suspects NMOSD, he or she first needs to rule out multiple sclerosis (MS). Both diseases involve a haywire immune response that attacks the central nervous system (CNS), which is comprised of your brain, optic nerves, and spinal cord. That means both conditions can cause serious eye pain and vision problems from optic neuritis—when the optic nerve is attacked by rogue immune cells and becomes inflamed, causing vision loss and eye pain—as well as serious, and sometimes permanent, mobility problems.
Ruling out MS early on is essential “because the overwhelming majority of MS drugs do not work for NMOSD, and some of them can make NMOSD worse,” says Florian P. Thomas, M.D., director of the Multiple Sclerosis Center at Hackensack University Medical Center in New Jersey. “We suspect NMOSD essentially in every patient who presents with conditions that could be MS because it’s absolutely crucial to treat NMOSD with drugs of dramatic effectiveness from the get-go.”
To determine which condition you have, your doctor will likely conduct a series of tests. They include:
Bloodwork, which screens for a specific antibody that signals NMOSD (more on this in a moment).
Magnetic resonance imaging (MRI), which delivers detailed scans of the CNS, detecting specific locations of scarring. In MS, lesions tend to be smaller and are commonly found on brain tissue. In NMOSD, the target is usually the spinal cord or optic nerve (or a related area called the optic chiasm), with the brainstem being attacked in just 10% of cases. Lesions from NMOSD are usually elongated and cover a cross-section of the nerve, one of reasons why symptoms tend to affect both limbs, or both eyes, whereas in MS, symptoms generally occur in a single eye, arm, or leg.
A spinal tap, which is performed to examine cerebrospinal fluid that runs through the spinal column. In NMOSD, this may reveal AQP4 antibodies or high levels of inflammatory proteins called cytokines. If you have high levels of a protein called immunoglobulin instead, you probably have MS.
Optical coherence tomography (OCT), which often shows much more thinning of the nerve fiber in the retina in people with NMOSD than in people with MS.
Evoked potentials test, also called an evoked responses test, which allows your doctor to review how your brain and optic nerves are responding to sounds, sights, and touch, and helps detect other damaged areas in your CNS.
While You Wait for Results: Inflammation Is Treated
An official NMOSD diagnosis can take a few weeks as you wait for results from bloodwork to come back, says Dr. Thomas. Until then, he says that—just as if you’d had a serious MS flare—you’ll be given a high dose of intravenous (I.V.) corticosteroids for about five days to tame inflammation and reduce symptoms. (That’s because while preventative MS drugs can harm people with NMOSD, many common symptoms of both conditions are treated the same.)
Steroids are the first line of defense in this initial or any future attack—which 90% of people with this condition do go on to experience. That’s because there are two main types of NMOSD:
Relapsing-remitting is the most common form, meaning symptoms come on for weeks or months—called a relapse—then remit, or go into remission, only to reappear again down the line.
Monophasic, which is a one-and-done form of the disease, affects just 10% of people with NMOSD, with symptoms generally being more severe during the single attack, but then never happening again. However, since doctors won’t be able to tell for months or even years which type you have, you’ll be treated as if you have relapsing-remitting.
“One of the biggest differences between MS and NMOSD is that, as far as we know, there is no progressive phase of NMOSD,” says Dr. Tobin. While MS symptoms flare and then abate during remissions, and sometimes (but not always) worsen over time, each NMOSD attack can cause accumulative or even permanent damage. Which is why powerful new treatments are focused on preventing the next attack from ever occurring.
After you receive I.V. steroids, if your symptoms are severe enough your doctor may order a few sessions of plasma exchange—a treatment that removes inflammatory antibodies from your blood to help curb symptoms. In 75% of people with NMOSD, the immune system produces antibodies that target the protein aquaporin-4, which is responsible for transporting water in certain nerve cells. Those antibodies, which are not present in MS, appear to be the main cause of the damaging inflammation.
The presence of aquaporin-4 antibodies, also known as NMO-IgG, can help confirm the diagnosis.
“MS can actually be more difficult to diagnose than NMOSD, because once the blood test for aquaporin-4 is positive, NMOSD is diagnosed,” explains Mary Rensel, M.D., a neurologist at Cleveland Clinic’s Mellen Center for MS Treatment and Research in Ohio.
Still, she says that some people with NMOSD actually receive negative antibody tests. Somewhere around 20% of people with NMOSD don’t have AQP4-IgGA—but about half of this group do have antibodies for a different protein called myelin oligodendrocyte glycoprotein (MOG), which is found in the outer layer of the myelin sheath and can result in similar attacks on the optic nerve and spinal cord. Since their symptoms and other test results fit the disease, they’re given the diagnosis of NMOSD (although there is ongoing debate in the research community about whether the presence of MOG antibodies might be a different disease altogether).
Day 1 of Diagnosis: Learn About NMOSD (and Have Hope)
If your doctor just told you have NMOSD, you’re probably feeling a wide range of emotions. Maybe you’re relieved to have answers, even as you’re feeling shocked that your life has taken such a sudden turn. Try to give yourself time to process the news and all it means, says Dr. Tobin. And, remember, while there are general trends seen in a typical NMOSD disease course, you are an individual. No one can definitively predict your future, or how you will respond to treatment.
Still, if you’re like most others with a new diagnosis, chances are good you’ve already Googled NMOSD—and are feeling pretty alarmed by what you’ve found. “Historical accounts of this disease are very, very bad,” Dr. Tobin acknowledges. But, he adds, “The advent of newer disease-modifying therapies in the last few years will significantly impact that history. I think the future looks very promising.” So try to bank on hope.
First Week: Discuss Medications (and Consider Joining a Clinical Trial)
There’s never a good time to get NMOSD—but the good news is that your diagnosis has come now. “The landscape for NMOSD has changed dramatically just in the last two years, in terms of what treatments are available,” Dr. Tobin says.
Once your attack has been stopped with I.V. steroids (and maybe plasma exchange), the next step is to prevent future attacks and pre-empt more damage. While no treatment yet available is 100% effective, these drugs have been to shown to reduce the severity and frequency of relapses:
More steroids: Your doctor may prescribe a low dose of a corticosteroid like Medrol (methylprednisolone) or Prednisone Intensol (prednisone) to help prevent future NMOSD attacks and to tame inflammation.
Rituximab: You’ll get two courses of this I.V. infusion, a monoclonal antibody, in the first two weeks, and then one every six months. In a 2014 study, researchers took a 10-year retrospective look at 90 NMOSD patients and found that those taking rituximab cut their relapse rate by 88%, with two out every three patients achieving full remission. In fact, it’s been a mainstay of NMOSD treatment for more than a decade, says Dr. Thomas. “It’s a very effective drug. I’ve had patients with NMOSD who’ve been stable on it for 15 years.” However, rituximab does have potential side effects, he says, including fever, chills, rash, headache, nausea, vomiting, shortness of breath, and more.
Off-label Immunosuppressants: These medications help shut down the rogue and inflammatory immune response, and may prevent the next NMOSD attack from happening. They include:
- CellCept (mycophenolate mofetil)
- Imuran (azathioprine)
NOMSD-specific Drugs: For the 75% or so of people who test positive for NMO-IgE, the FDA has approved two immunosuppressants: Soliris (eculizumab) and Uplizna (inebilizumab) that have been shown in clinical trials to help prevent future attacks. A third drug, Enspryng (satralizumab) is widely believed to be approved soon. They are infusions with different delivery methods (every two weeks for Soliris versus every six months for Uplizna) and hefty price tags, though insurance may cover most of these costs.
1 to 2 Weeks After Diagnosis: Assemble Your Care Team
As soon as you're strong enough, it’s time to get strategic: Get ready for quite a few medical appointments in the coming weeks and months as you and your doctor come up with a treatment plan going forward.
Since NMOSD is so rare, it’s a good idea to find a neurologist who’s familiar with the condition, advises Dr. Rensel. If possible, she recommends reaching out to an MS center for recommendations. You may be able to do some of your appointments virtually if you don’t live near a center.
Your neurologist will help you put together a care team to address your individual issues. Depending on your needs and symptoms, this care team is similar to one someone with MS might have, bringing together a wide range of practitioners that can include:
- an ophthalmologist for eye pain and vision loss from optic neuritis
- a nurse practitioner who you can see more frequently for symptom management, and to answer questions
- a psychologist to address the emotional stress of this life-changing condition
- a neuropsychologist to help with any cognitive issues or decline
- a physical therapist for walking, balance, and gait issues
- an occupational therapist to help you figure out strategies and tools to maintain your independence at home and in the community
- a urologist for bladder and constipation problems
It’s probably going to take a while to adjust to this huge life change, so be kind to yourself during this raw time, advises Dr. Rensel. She relays how at Cleveland Clinic they connect people who are newly diagnosed with NMOSD to patient advocacy groups such as the Guthy-Jackson Charitable Foundation and the Siegel Rare Neuroimmune Association) for support and education.
3 to 4 Weeks After Diagnosis: Focus on Making Healthy Changes
At this point, your initial symptoms should be getting better, but you may have some long-lasting or even permanent injury, including vision loss or walking issues.
Dr. Tobin suggests you embrace self-care, starting with a healthy lifestyle. Since obesity has an impact on inflammatory diseases, he says neurologists recommend all patients maintain a normal weight. A heart-healthy diet full of fruits, vegetables, and whole grains and low on sugar, processed foods, and red meat, can help you control your weight. It also gives you energy and helps prevent heart disease.
Getting daily exercise is important, too. Any kind is beneficial, as long as you’re doing it every day, Dr. Thomas says. So is quitting smoking. If you still light up, do everything in your power to quit.
1 to 5 Months After Diagnosis: Arrange for a New Schedule and Join a Support Group
Hopefully by now your symptoms are well-controlled and you haven’t had a second relapse, though these can happen at any point. Some people with NMOSD only have relapses of optic neuritis (pain, vision loss, or blurring), while others only have relapses of myelitis (weakness, numbness, paralysis, spasticity, uncontrollable vomiting and nausea, uncontrollable hiccups, fatigue, and loss of bladder/bowel control). Others have both. It’s impossible to know what course your disease will take, so try to take it one day at a time.
Your emotional well-being affects your immune response, so if you’re feeling anxious, it’s important to protect yourself and get help if you need it, Dr. Rensel says. Be sure to alert your care team.
Prepare yourself for frequent MRIs. “We get MRIs fairly regularly on patients to monitor that the drug (they’re on) is effective in terms of preventing a relapse,” Dr. Thomas says. With both MS and NMOSD, people tend to have more relapses that are visible on an MRI (new lesions or areas of inflammation without symptoms) than ones that create symptoms (clinical relapse). “The MRI relapses are just as much tell-tale signs for disease activity as the clinical relapses, so that’s something we follow very, very closely,” says Dr. Thomas.
Dr. Thomas also notes that you may need to make some adjustments at work or school to allow for your condition. For instance:
College students may need a specialized learning plan to give them more time to take exams if memory has been affected, which he says can occur.
At work, you can ask to move closer to a restroom if you have bladder or bowel control problems.
If your neurologist put you on an NMOSD-specific medication, you may need to talk to your employer about getting time off of work or rearranging your schedule, since you’ll be getting infusions that last 35 to 90 minutes (plus about an hour of observation afterward to make sure you don’t have an allergic reaction). If you run into obstacles with your boss, head to the Job Accommodation Network to find out more about accommodations and your rights under the Americans with Disabilities Act (ADA).
You may want to investigate joining a support group with others battling this disease, whether it’s online or in-person. Talking to other people who are going through similar things can make a big impact on your emotional health.
If you have another relapse during this time, you’ll start the process of stopping the attack with high doses of corticosteroids and possibly plasma exchange all over again. Your neurologist will reevaluate whether you’re on the best treatment and maybe make a change. You’ll also need treatment for any new or worsening symptoms.
6 Months After Diagnosis: Ask About Vitamin D and Do Brain Games
Provided you haven’t already had another attack, your neurologist will review all of your symptoms and ask you about any new or worsening ones. Dr. Tobin says your neurologist might start you on vitamin D supplements if your levels are low. Studies have found that low levels of vitamin D may increase your risk for relapses.
You could still be experiencing residual symptoms from your initial attack—from vision changes to muscle weakness, spasticity, or paralysis—and if you’ve had another attack, your symptoms will likely get even worse since the effects of each relapse tend to build up. You’ll need to keep addressing all symptoms with your care team.
If your memory has been affected, keep your mind sharp with apps and online brain games. Read a novel, do a crossword puzzle, get good sleep, and move your body every day—all help prevent cognitive decline..
1 Year After Diagnosis and Beyond: Celebrate What’s Ahead
If all goes well and you avoid another relapse, you’ll continue with treatments, plus do six-month or yearly follow-ups to monitor your disease, says Dr. Tobin. Relapses can happen really fast, though, so if you notice any symptom changes at all, contact your neurologist right away.
In the meantime, it’s important to stick with your treatment plan and be proactive about your mental and physical health, says Dr. Tobin. Keep all your appointments, report all problems to your care team, and make sure you have lots of support.
If it all feels overwhelming, keep in mind that new and innovative treatments are changing the forecast for NMOSD. “We’re doing a clinical trial of one of the medicines that is at the FDA now, and I have patients who are clinically stable with this condition, which is not how it used to be,” says Dr. Rensel. “It’s a bright new day or this group.”