Joanna Robles, a physician, experienced unusual symptoms for the first time in the summer of 2020. She had episodes of nausea and vomiting that she could not explain. Eventually, doctors diagnosed her with Neuromyelitis Optica (NMO), but the initial days were confusing.
„I had occasional episodes of gagging, vomiting, and hiccups,“ said Robles, a 32-year-old pediatric hematologist and oncologist from North Carolina. „I felt exhausted and just wanted an answer to why I was feeling so terrible.“
Initially, she went to the emergency room, then to her primary care physician, and then to a gastroenterologist to figure out what was causing her symptoms. The visits were only a few weeks apart as her nausea and vomiting had become so severe that she had lost about 18 pounds in a very short time.
Just before Robles underwent an abdominal ultrasound and upper endoscopy, she developed a new symptom – vision disturbances. Therefore, after the tests, she sought out a neurologist.
„The neurologist urgently ordered an MRI of the brain, initially reported as normal. My vision loss progressed so much that within a few days, I was practically blind in my left eye,“ Robles recalled.
She managed to secure an urgent appointment with an optician who then referred her to outpatient neuro-ophthalmology. Robles reached out to the neurologist who had examined her a few days earlier. It was determined that she was suffering from Optic Neuritis, a condition where 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 my optic neuritis was so severe and rapidly progressing and because I had previously experienced nausea and vomiting,“ she said.
A blood test during her hospital stay confirmed her diagnosis.
NMO, also known as Devic’s disease, is a rare condition that affects your eyes and spinal cord.
Most people diagnosed with NMO either experience vision loss and eye pain – typically in one eye, but it can be both – or problems caused by inflammation of the spinal cord. This can include arm or leg weakness, numbness, and pain.
„Uncontrollable nausea, vomiting, or hiccups like Robles experienced are less common symptoms but very specific to this disease,“ says Dr. Aaron Miller, Medical Director of the Corinne Goldsmith Dickinson Center for Multiple Sclerosis.
The primary way to diagnose the disease is through a blood test looking for antibodies against a protein called Aquaporin-4 (also known as NMO-IgG). Once diagnosed, the doctor treats any relapses and then aims to prevent further relapses.
Robles was treated in the hospital for three days for her optic neuritis with intravenous steroids. She then started taking oral steroids for a few weeks. After her diagnosis was confirmed and she consulted a neuroimmunologist, she began taking a medication called Rituximab, which is now administered intravenously every six months.
Several new medications are FDA-approved for NMO. However, since they are often not covered by insurance, many doctors start with older medications.
Robles noticed that her vision mostly returned to normal a few weeks after starting the steroids. She still experiences some issues at times.
„I notice very minimal vision differences between the affected left and right eyes, but these seem to worsen for a while when I am extremely tired or hot,“ she said.
She experiences nausea sporadically, and it seems to be triggered when she is very tired. With anti-nausea medication, Robles can easily manage the condition but rarely needs to take it.
Her main symptom currently is fatigue.
„My neurologist had warned me about it, but I only truly realized how debilitating this feeling could be when I experienced it myself,“ she said. „I finally started taking medication for my fatigue, which significantly improved my symptoms.“
People with NMO can manage their symptoms and live for many years. However, receiving treatment as soon as possible is crucial, says Miller.
„It’s an unpredictable disease and can be a very serious condition as it is a disease where people can acquire a neurological disability due to these relapses,“ Miller said. „So, if you have a severe relapse and do not recover well, it can lead to a significant neurological disability.“
Individuals who do not have their symptoms and relapses under control can suffer from blindness, arm or leg paralysis, depression, and loss of bowel or bladder control.
Miller mentioned having several patients in his practice who have been living with NMO for several years and are doing very well with few or, in some cases, no symptoms.
Robles mentioned that her neurologist was very encouraging in terms of what to expect.
„I was told that most patients do not make progress between relapses and that the most important aspect of preventing relapses is taking preventive measures,“ she said. „I was warned about pseudo-relapses where the symptoms of my old lesions could flare up again, but I was informed that they should not persist and instructed to call immediately if new symptoms last longer than 24 hours.“
Robles noted that aside from medical treatment, her faith, her husband, as well as her family and friends, played a crucial role in enabling her to live with her condition.
„I also really wanted to meet other people with this disease and understand what their lives look like. I read information about NMO but did not know how this would impact my life, so I joined a virtual group through the Sumaira Foundation last year, which helped me come to terms with it,“ she said.
„Moreover, I am slowly starting to exercise regularly again, something I had stopped when I fell ill.“