The Washington PostDemocracy Dies in Darkness

‘I’m going blind. Somebody’s got to help me.’

(Cameron Cottrill for The Washington Post)

Julia Lefelar didn’t know what else to do.

She had been taking antibiotics for a sinus infection, but seemed to be getting sicker. Her eyes hurt, her vision was dimming by the hour, and she had been unable to snag an appointment with her ear, nose and throat specialist.

So Lefelar drove to the office of the ophthalmologist she had seen several years earlier for routine care and pleaded with the startled receptionist: “I’m going blind. Somebody’s got to help me.”

“I’ve never seen anyone move so fast,” she said of the staff’s response.

For more than a decade Lefelar, who lives in Gaithersburg, Md., had battled puzzling episodes that lasted a month or two and typically included severe eye pain, darkening vision, shortness of breath, nausea and crushing fatigue. Two doctors attributed her symptoms to stress. Another advised her to eat more fiber. Alarmed by one doctor's obvious skepticism, the software engineer enlisted her husband to attest that she wasn't exaggerating.

Years after her symptoms emerged, a friend made a prescient observation. “Either you’ll get better and nobody will ever know what was wrong with you, or you’ll get worse and they’ll figure it out.”

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Lefelar’s trip to the eye doctor marked the beginning of the latter, culminating in a diagnosis three years after that desperate visit.

Now 58, she recalls her complicated reaction. “Weird feelings of happiness that I had found my smoking gun,” she said, were mixed with memories of the pain she had endured and the recurrent fear that she was dying — and no one knew why.

Lefelar also felt “anger and sadness that I had missed things other people enjoy” and at the ways her unidentified illness had marked her daughters’ childhoods.

“Emotionally,” she said, “I was just torn.”

Essential nap

The first attack started in 2000 with a bad cold that didn’t go away. The back of Lefelar’s eyes hurt, and she felt exhausted.

She consulted her internist who prescribed antibiotics, which didn’t help. He then ordered blood tests that found nothing abnormal. Even so, Lefelar’s fatigue seemed unshakable; she needed a lunchtime nap in her office to get through a workday.

“I would go to the grocery store and I didn’t think I could make it home,” she remembered. Sometimes she’d drop the groceries in the kitchen, crawl up the stairs and flop onto her bed, exhausted. At times Lefelar said her vision was off. She remembers standing in her brightly lit kitchen and asking her husband if the lights were dim.

Lefelar’s internist didn’t know what was wrong. “He’d say things like, ‘You’re a young mother, and you’re working, it’s hard,’ ” she recalled. “He didn’t refer me to anyone or take me seriously.” At one point she wondered if she might be imagining her dimming vision.

After a month or two, her symptoms receded, then disappeared, only to recur several months later. In the midst of a recurrence in 2001, she consulted a new internist who specialized in sports medicine. He was, she said, one of the few primary care doctors in her area who took her insurance.

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After ordering blood tests that found nothing amiss, he sent Lefelar to a cardiologist for an assessment of her occasional heart palpitations.

The cardiologist had her wear a Holter monitor, a device that tracks cardiac rhythm. He diagnosed premature atrial contractions, which can be a harmless condition in someone without existing heart problems; among its causes is stress. The doctor advised her to rest and avoid stress.

She consulted a gastroenterologist for persistent nausea. He performed a sigmoidoscopy, a procedure that uses a scope to examine the lower part of the colon. He advised her to eat more fiber, which did little to moderate the nausea.

Dissatisfied, she returned to her internist. He told her she was “depressed but might not know it” and referred her to a psychiatrist.

Lefelar said she saw the psychiatrist once. “He told me, ‘I don’t know what’s wrong with you, but I think you have a physical illness,’ ” she recalled. Lefelar said he also pointedly advised her to find a new primary care doctor.

A few months later she saw a third internist for the first of two visits. He told her that blood tests showed evidence of a previous infection with mycoplasma, a bacterium that can affect different parts of the body, including the lungs. He prescribed a month of antibiotics.

“I thought, ‘Okay, this is it,’ ” Lefelar recalled. It wasn’t. Although her symptoms initially improved after taking the drug, they did not disappear.

By 2006, six years after her first attack, Lefelar said, she felt “almost normal.”

Her fatigue had lessened, and her symptoms occurred infrequently and were more manageable. She stopped napping at lunchtime. Maybe, she thought, it was her changed diet: She had eliminated caffeine and alcohol.

“If I ate right,” she said, “I could still function. I thought, ‘Well, this is my new normal.’ ”

Eye pain

In 2014, the cycle began again. After a bad cold, Lefelar developed pain in the back of her eyes, followed by darkening vision. Another internist (No. 4) sent her to an ear, nose and throat specialist who prescribed antibiotics for a sinus infection.

Her desperate decision to make an emergency trip to the ophthalmologist’s office marked the first eye exam she’d had in years.

“I had let that go because I was so focused on other things,” she said. “Now I think ‘Boy, am I dumb.’ ”

The eye doctor quickly diagnosed optic neuritis, an inflammation of the optic nerve that is often seen in people with multiple sclerosis (MS), a disease of the central nervous system. He immediately sent her to a neuro-ophthalmologist, a doctor trained in ophthalmology and neurology who specializes in unusual visual problems that originate in the nervous system, not the eyes. The specialist prescribed high-dose steroids, and Lefelar’s vision returned to normal. Doctors ruled out MS and could find no underlying cause of her dimming vision. With luck, they told her, it wouldn’t recur.

For days she couldn’t stop getting sick. At first, she doubted the probable cause.

But over the next few months it did, first in one eye, then in the other and later in both. Each attack receded when she took steroids.

Lefelar was referred to neuroimmunologist Michael Levy then at Baltimore’s Johns Hopkins Hospital. (Levy is now research director of the Division of Neuroimmunology & Neuroinfectious Disease at Boston’s Massachusetts General Hospital.)

He suspected that Lefelar had neuromyelitis optica (NMO), a rare disease that occurs when the immune system mistakenly attacks healthy cells in the spinal cord and eyes causing pain and vision loss. Roughly 4,000 cases are diagnosed annually in the United States, far fewer than MS with which it may be confused.

Lefelar began receiving infusions of rituximab, a drug used to treat certain cancers and serious autoimmune diseases. But her response was suboptimal, and a subsequent test for the NMO antibody was negative.

For three months in 2014, Lefelar said, she was essentially blind and on disability. “I had a little strip of vision at the bottom, and I basically learned to get around the house.”

Her vision gradually returned, but with some permanent deficits: blind spots and colors that look washed out. But Lefelar recovered enough to return to work. “I thought, ‘Well, this is my illness and I just have to go on.’ ”

But in 2017, after Lefelar began having trouble with leg weakness and bladder control, it was clear that the rituximab wasn’t working. Levy ordered a recently developed blood test for a new disease: MOG antibody disease (also known as MOGAD), short for myelin oligodendrocyte glycoprotein antibody disease.

The disease occurs when antibodies attack a protein found on the protective myelin sheath that surrounds nerve cells in the optic nerve and less often, the brain and spinal cord. The resulting demyelination impairs the functioning of nerve cells and can result in optic neuritis, vision loss, nausea and fatigue.

Lefelar’s MOG antibody test was positive. Seventeen years after her first attack, she finally had an answer. Her symptoms were the result of MOG antibody disease.

The cause of the autoimmune disease, which affects children and adults, is unknown but is not generally believed to be familial. Children sometimes suffer a single attack and recover, while adults may experience multiple relapsing attacks that can damage the central nervous system.

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There are no standard treatment guidelines for MOG, although high-dose intravenous steroids are often used to reduce inflammation. Drugs taken by organ transplant patients to suppress the immune system are sometimes prescribed.

Originally, MOG was believed to be a variant of MS, Levy said, but experts now regard it as a separate disease and warn that MS treatments can make it worse.

“One of the weird things about MOG is that many attacks are severe — more severe than MS attacks — but patients tend to get better,” observed Levy, an associate professor at Harvard Medical School. “MS patients accumulate more disability than do MOG patients.”

Lefelar now receives weekly intravenous infusions of a drug she administers at home; she has not had an attack since 2017.

“It’s been 22 years, and I have a pretty good life now,” she said. “I drive, I work, and I have 95 percent of my vision.”

With her daughter and sister, Lefelar created the nonprofit MOG Project in 2020, which she calls her second job. Its goal is to raise awareness of and stimulate research into the little-known disease.

“I talk to people every week who are still being told [by doctors] that there’s nothing wrong with them,” Lefelar said, noting the worrisome parallels to her own experience.

While her illness could not have been diagnosed in 2000 — MOG had not been discovered — Lefelar said she hopes to use her hard-won expertise to help others.

“I wish that I was future Julie who knew how to advocate for herself,” she said.

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