Joanna Robles, MD, first started experiencing unusual symptoms in the summer of 2020. She started having bouts of nausea and vomiting that she couldn’t explain. Doctors eventually diagnosed her with neuromyelitis optica (NMO), but the first few days were confusing.
“I started having random episodes of gagging, vomiting and hiccups,” says Robles, a 32-year-old pediatric hematologist-oncologist from North Carolina. “I felt exhausted and just wanted an answer to why I felt so terrible.”
First she went to the emergency room, then to her primary care doctor, and then to a gastroenterologist to find out what was causing her symptoms. The visits all occurred within a few weeks of each other because her nausea and vomiting had gotten so bad that she lost about 18 pounds in a very short time.
Just before Robles had an abdominal ultrasound and an upper endoscopy, she developed a new symptom. She started having vision changes. So after the tests she went to a neurologist.
“The neurologist ordered an urgent MRI of the brain, which was initially read as normal. My vision loss progressed to the point that within a few days I was effectively blind in my left eye,” Robles recalls.
She was able to get an urgent appointment with an optometrist, who then referred her to the neuro-ophthalmology outpatient clinic. Robles contacted the neurologist who had evaluated her a few days earlier. It was discovered that she had optic neuritis, a condition in which the optic nerve in the eye is inflamed.
The neurologist sent her to the emergency room.
“The neuro-ophthalmologist who saw me in the emergency room immediately suspected that I had NMO because of the severity and rate at which my optic neuritis worsened and because of the nausea and vomiting I had previously experienced,” she says.
A blood test during her hospitalization confirmed her diagnosis.
NMO, also known as Devic’s disease, is a rare disease that affects your eyes and spinal cord.
Most people diagnosed with NMO either have vision loss and eye pain (usually in one eye, but it can be both) or problems caused by inflammation of the spinal cord. That can include arm or leg weakness, numbness and pain.
Uncontrollable nausea, vomiting, or hiccups like Robles had are less common symptoms but very specific to this disease, says Aaron Miller, MD, medical director of the Corinne Goldsmith Dickinson Center for Multiple Sclerosis.
The main way to diagnose the disease is with a blood test that looks for antibodies against a protein called aquaporin-4 (also called NMO-IgG). Once the disease is diagnosed, doctors treat any flare-ups and then try to prevent more flare-ups from occurring.
Robles was treated in the hospital for her optic neuritis with IV steroids for three days. She then started taking oral steroids for a few weeks. Once her diagnosis was confirmed and she saw a neuroimmunologist, she started taking the drug rituximab, which she now receives through an IV every six months.
Several new medications have been approved by the FDA for NMO. But because they are often not covered by insurance, many doctors start with older medications.
Robles found that her vision largely returned to normal a few weeks after starting the steroids. Sometimes she still has some problems.
“I notice some very minimal differences in vision between the affected left eye and the right eye, but these seem to be slightly worse for a while when I am very tired or hot,” she says.
She only experiences occasional nausea, and it appears that this is caused, she says, when she is very tired. Robles can easily treat this with nausea medications, but rarely needs to use them.
Probably her biggest symptom now is fatigue.
“This was something my neurologist had warned me about, but I didn’t fully realize how debilitating this feeling could be until I experienced it myself,” she says. “I eventually started a medication to help with my fatigue, which improved my symptoms significantly.”
People with NMO can control their symptoms and live for many years. But it’s very important to get treated as soon as possible, Miller says.
“It’s an unpredictable disease, and it can be a very serious disease because this is a disease where people develop neurological disabilities from these flare-ups,” Miller says. “So if you have a severe flare-up and don’t recover well, you can have significant neurological disability.”
People who don’t control their symptoms and flare-ups can end up with blindness, paralysis of arms or legs, depression, and loss of bowel or bladder control.
Miller says he has had a number of patients in his practice who have had NMO for several years and they are doing very well, with few or, in some cases, no symptoms.
Robles says her neurologist is very encouraging about what to expect.
“I was told that most patients don’t make progress between relapses, and that the most important thing to prevent relapses is to be preventative,” she says. “I was warned of pseudo-flare-ups where symptoms from my old lesions could flare up, but I was warned that these should not persist and was instructed to call immediately if any new symptoms persisted for more than 24 hours.”
In addition to medical treatments, Robles says her faith, her husband and her family and friends have played a key role in living with her disease.
“I also really wanted to meet other people with the disease and understand what their lives were like. I read the information about NMO, but didn’t know how it would change my life. That’s why I joined a virtual group through Sumaira Foundation, which has helped me cope over the past year,” she says.
“I’m also slowly starting to exercise regularly again, something I stopped doing when I started feeling sick.”
