“I Have NMOSD. No One Knows What It Is.”
When you have a super-rare and destructive autoimmune disorder, diagnosis and its aftermath can be a lonely journey. One woman shares hers.
Marie Newbrough learned she had neuromyelitis optica spectrum disorder (NMOSD), a rare autoimmune disorder that affects 16,000 people in the U.S., in 2016, when she was 36. Her diagnosis didn’t come overnight. And once it did come its impact reverberated, affecting everything.
“My first technical attack was the hiccups,” the Colorado Springs resident remembers. “I was given a muscle relaxant and some breathing techniques, and they faded away.”
But eight months later she started seeing blotchy patches in one eye. After examining the mom of two, an eye doctor thought she had optic neuritis—a condition that inflames and damages the optic nerve, often causing blurry or lost vision—and ordered an MRI (an imaging test to scan her brain) without any push for urgency. “I kind of got lost in the shuffle,” Newbrough says, which meant waiting weeks to see a neurologist.
Fourteen days later, she went blind in her left eye.
A nurse in her doctor’s office told her to go to the ER for an emergency MRI, but Newbrough had just started a new job as a marketing manager. “There was a big museum opening—my first one,” she recalls. “I asked my husband to drive me there and told him, ‘I need to get through this exhibit opening and then go to the ER.’ We were driving, and there was that pull to do the right thing for my job or myself, and I had to decide. I called my boss and said, ‘I'm sorry, this has just gotten so severe over the last 24 hours, I need to go to the hospital.’”
Journey Toward Diagnosis
The MRI showed lesions in her brain—typically the hallmark of conditions like multiple sclerosis (MS)—but not where MS lesions often appear. Instead, they were on her brain stem. “It threw the ER doctor off,” she says. After some calls, she was able to fast-track an appointment with another neurologist, who ruled out MS; instead, he suspected Newbrough had viral meningitis because she also had a horrible headache, nausea, tingling and numbness in her toes and fingers, and nerve pain spreading up the right side of her body.
Even so, “there was peace of mind. I thought, surely the neurologist will get it taken care of,” says Newbrough. Instead, despite several hospital stays and a round of steroids, her symptoms didn’t improve—and she was feeling squeezing sensations around her stomach (known as banding). This led her to Jeffrey Bennett, M.D., a practicing neuro-ophthalmologist and professor of neurology and ophthalmology at the University of Colorado School of Medicine, Aurora, CO, for a second opinion.
Receiving a Life-Changing Diagnosis
Based on her combined symptoms and her MRI, Dr. Bennett suspected NMOSD. This disease strikes when the immune system attacks a protein in the brain and spinal cord called aquaporin-4 (AQ-4). Sure enough, bloodwork revealed she had AQ-4 antibodies—a telltale sign of an inflammatory attack. Newbrough was officially diagnosed three months after going blind.
Finding a doctor who recognized the disorder made all the difference. It’s true that more neurologists are aware of NMOSD today than they were even a few years ago, Dr. Bennett says. But, he adds, “I can talk to physicians around the world and you mention NMOSD, and they give you a puzzled look.” So it’s not surprising why Newbrough’s doctors missed it.
NMOSD attacks can be mild or serious, but the damage can be permanent, and attacks recur if the disease goes untreated. You can be left with vision problems if your optic nerve is attacked. If your spinal cord is the target, you may be unable to walk well, pee, or move your bowels normally, or even be left paralyzed. How much you recover usually depends on how bad the first attack was and how quickly you’re treated.
That means a misdiagnosis can have serious consequences for people with NMOSD, says Dr. Bennett. First, it can increase the risk of another attack, which often occur within a year among those who go untreated or who are mistreated. What’s more, subsequent attacks mean scarier symptoms—NMOSD isn’t a relapsing-remitting disease the way MS is. Instead, experiencing another attack can mean the difference between using a walker and getting around pretty well on your own, or being blind in one eye instead of having partially obscured vision.
A misdiagnosis can also mean being undertreated. IV steroids are the standard go-to treatment for most inflammatory attacks of the nervous system, Dr. Bennett explains. But NMOSD patients, who tend to have sudden attacks, need a bigger arsenal of therapies, and that usually means what Dr. Bennett says is an “early and aggressive” use of plasma exchange (PLEX) —a type of dialysis of the blood where the antibodies and inflammatory proteins causing all the damage are taken out—to have a good outcome.
Newbrough went back to the hospital for PLEX and was put on Rituxan (rituximab), an off-label anti-inflammatory drug often given to people with rheumatoid arthritis. “I attribute everything I've gotten back in my body from Rituxan,” she says now. “After 30 days of being on it the swelling and the general stiffness and achiness started going down. The nerve stuff, the numbness I had in my right foot—that feeling came back. I still have some permanent areas I can't feel, but that doesn't interfere with my life.” Newbrough, who remains blind in one eye, also went on an anti-gluten, anti-inflammatory diet a month later that she believes helped the banding sensations disappear.
Grieving Her Previous Life
When she first got the diagnosis, Newbrough thought NMOSD was something she could fix. “I remember asking Dr. Bennett, ‘Well, I’ve got these lesions. Can you operate?’ And then finding out you can’t. Plus, there’s really no medicine for it and not much research,” she explains.
During the first few months, she weighed her options. “I don’t remember being sad—I felt like, ‘I’ve got to figure this out.'" But at some point that chipped away. "I felt angry for several months. I thought, ‘OK, this is going to be my life going forward, and how bad is it going to get?'” Newbrough says. “Anxiety about being wheelchair-bound, wondering if I could still be a mom and a wife and have a career. So fear of what the future holds.”
Then came the irritability and crying jags. She realized she needed to deal with the emotions of what she calls “almost the death of my previous self.” She found a therapist and therapy helped, she reports, as did the responsibilities of her family. “What pulled me out of that funk of grief was thinking, ‘I’ve got to take care of these children. I’ve got the dog to walk.’ Those activities probably helped me in ways I didn’t realize at the time.”
Facing Down Fear
The risk of a relapse is very real (Newbrough calls it her “sleeping dragon.”) But since 2020, three NMOSD-specific medications have been approved: Soliris (eculizumab), Uplizna (inebilizumab), and Enspryng (satralizumab). Patients who took part in the clinical trials reduced the chance of a relapse by 75% to 90%, says Dr. Bennett. “That’s an incredible reduction that people can sink their teeth into,’” he says.
These new meds are one reason to feel more hopeful. But other things can also ease your concerns. Dr. Bennett encourages his patients to write down their diagnosis and information about NMOSD so they (or a family member) can show it to an ER doctor if they happen to travel out of state (or the country) and have an attack. He also gives them a card with a number they can reach 24 hours a day, where he or another doctor can help providers who are unfamiliar with the disease ER get the right tests and treatments done.
That’s why having an NMODS-savvy doctor is so important. “When you find the right doctor that calms a lot of those emotions down. I felt I was in good hands now,” says Newbrough.
There are still other worries, though. “Like anxiety about being immune-suppressed because I take rituximab,” Newbrough says. (This drug lowers the risk of another inflammatory attack by suppressing your immune system.) “Even before COVID I lived with fear about even catching a cold, or the flu, or dying from pneumonia or other things, because I don’t have everything to fight it,” she adds.
Being blind in one eye is another source of anxiety. “I feel most comfortable in places I’m already familiar with,” she admits. “I’ve probably isolated myself more as time has gone on, so I try to have a reality check: ‘OK, I’m avoiding this activity because of the vision, and I’m avoiding this trip because I’m afraid.” Breaking through those concerns takes a conscious effort on her part.
Dr. Bennett encourages patients not to cocoon and take advantage of what they can still do. Which is why Newbrough now drives, even though she had to relearn how to merge onto a highway without being able to see out of her left eye. “You just pivot your body that much more. Instead of looking twice, I look four times before I approach. It was scary, but I have that fierce independence to push through.”
Nailing Your “Elevator Speech”
Having a rare disorder can feed into your feelings of isolation, says Newbrough, as it’s tough to explain what you have to others. “It took me months to kind of wrap my head around it, as I’m not someone who has a degree in science—and I had to figure out, ‘What’s my elevator speech?’ When people asked me what was going on, I’d answer, ‘It’s like MS, but it’s not,’ or ‘It’s an autoimmune condition where my body is attacking itself.’”
That first year, she felt she talked about her condition so much she was left exhausted and frustrated, noting that many people would try to understand, but couldn’t. Some even told her, “It could be worse.” To which Newbrough says, “You do figure out who’s actually listening with empathy, who really cares. I try to put my best foot forward every day. It looks to everyone else like I’m not sick, so that’s hard to communicate. I’ve got something very complicated going on, and I need support, but I look fine.”
The most supportive person has been her husband. “He’s heard the ugly crying and experienced the breakdowns, emotionally, that [other] people didn’t see,” she says. She also has close friends, including one with RA that gave her the lowdown on Rituxan, and NMOSD social media groups she leans on when she has questions.
She also went to a conference in LA held by the Guthy Jackson Charitable Foundations, a nonprofit advocacy group. “You’re in a banquet room with hundreds of other people that are going through what you’re going through, and that is really, really powerful,” she says. “It’s something that I’d like to make a goal, is to reach out and regularly meet with people. I left the conference in LA feeling really inspired and comforted.”
Living a “Normal” Life
“I don't have a lot of pain unless I push myself too much. I've learned what my boundaries are,” says Newbrough, who says she’s still learning to pace herself. “When I'm in professional situations, I have to pull it together, and then I have to rest after.”
Her daughters were 7 and 10 when she was diagnosed. “When your seven-year-old says, ‘Mom, you just don’t run around with me like you used to anymore,’ it breaks your heart,” Newbrough says. "I'll say, 'Let’s do that tomorrow.'”
As for her marriage, Newbrough says, “Building my strength and endurance back was key to all physical activities, including intimacy. My husband was very patient as I recovered—and we eventually got to a place of normalcy again. The emotional and physical challenges that couples face can drive them apart but bring them closer, too."
That’s why it’s vital that people with NMOSD get all the therapy they need, including physical, occupational, and vision. “If you’re not optimally equipped to deal with what disabilities you have, it takes you out of your ability to maximize your engagement in daily living,” says Dr. Bennett.
The Silver Lining
Four years on, Newbrough is still processing everything because, as she says, “it still feels very raw to me ... But I’ve met people in medical research, opening up a world that I wouldn’t have ever been a part of. That’s fascinating to me,” she notes. “And it sounds cheesy, but it makes you appreciate life. You realize, ‘Oh gosh, I really need to make the most of this.’”
There’s also new hope for the condition itself. “At least we have a disease in which we [understand] how we can intervene. And we have therapies that are known to improve that risk substantially,” says Dr. Bennett. Adds Newbrough, “Even from the time I was diagnosed until today, there are new specific medicines, a lot more research and awareness, and a lot more doctor education. I’m encouraged—ten or twenty years from now, things could be very different.”
Statistics on NMOSD: Annals of Neurology (2016.) “Epidemiology of aquaporin‐4 autoimmunity and neuromyelitis optica spectrum.” onlinelibrary.wiley.com/doi/abs/10.1002/ana.24617
Eculizumab and NMOSD: U.S. National Library of Medicine (2019.) “A Randomized Controlled Trial of Eculizumab in AQP4 Antibody-positive Participants With NMO (PREVENT Study).” clinicaltrials.gov/ct2/show/study/NCT01892345
Uplizna and NMOSD: USFDA (n.d.) “Drug Trials Snapshots: UPLIZNA.” fda.gov/drugs/drug-approvals-and-databases/drug-trials-snapshots-uplizna