A rare diagnosis

When Chelsey was 21, a newlywed, she woke up one day with severe eye pain and profound vision loss. “I’ll never forget that morning,” she says. “I knew something was terribly wrong.”

Chelsey called her doctor, who sent her straight to accident and emergency (A&E). In the hospital, doctors told Chelsey she had optic neuritis, an inflammation that damages the optic nerve, causing pain, temporary vision loss, and a change in colour perception. Only a handful of conditions cause optic neuritis, including multiple sclerosis (MS), a disease that causes inflammation and damage to nerves in the brain and spinal cord. “I was tested, and given a diagnosis of MS, which is devastating to a 21-year-old,” says Chelsey. “But that diagnosis never felt quite right.”

For over a decade, Chelsey was treated for MS. “I did the standard drug therapies, and yet I would have relapses and never go into remission.” Her doctors, too, were puzzled that she wasn’t responding to treatment. She continued to have attacks of optic neuritis – 14 of them – which left her permanently blind in one eye. “Many times, doctors would tell me that this didn’t seem typical for MS,” Chelsey says.

After 11 years, one day Chelsey woke up with a severe pain in both eyes. At the time, she was being treated by a doctor with a specialty in MS and other autoimmune and neurological conditions, including a rare disease called neuromyelitis optica spectrum disorder (NMOSD). He realised that Chelsey’s symptoms were more consistent with NMOSD than MS.

Chelsey and her doctor share her story here.

Like MS, NMOSD is a debilitating autoimmune disease of the central nervous system (CNS), where the immune system mistakes normal tissues of the CNS as foreign. But NMOSD is rarer, affecting hundreds of thousands of people worldwide compared to the more than 2.3 million people affected by MS, with many remaining either undiagnosed or misdiagnosed. The condition primarily affects women, mainly attacking the optic nerve and spinal cord.

Chelsey’s doctor recognised the differences in her symptoms from those of people living with MS: unlike when people living with MS experience optic neuritis or lose neurological function, people with NMOSD may not recover as well; the damage is often lasting and cumulative. Optic neuritis in both eyes and worsening reactions, despite being on treatment, were clues.

Other doctors suspected Chelsey had NMOSD. However, her diagnosis was clouded by the fact that 20% of people with NMOSD, like Chelsey, meet the diagnostic criteria for MS. She also had a blood test for NMOSD – for something called “aquaporin-4”, a protein that is detectable in the blood serum of most people living with NMOSD – that came back negative. Chelsey was one of the estimated one-third of people living with NMOSD who test negative for that marker, yet still have the disease.

Chelsey stayed positive through her diagnosis but remembers feeling scared. Recurring attacks can lead to an accumulation of debilitating symptoms and blindness, muscle weakness, and paralysis. And unlike people living with MS, she had very few treatment options. “I don’t want to be sick,” she says. “I want to be able to walk, and to hold and see my kids. It’s very hard to think about what my long-term prognosis might be.”

Years later, Chelsey recovered some vision in her right eye. Not perfect, but it was good enough to accomplish daily tasks. “There are nights where I’ll go to sleep and wake up the next morning with issues I didn’t have the day before.” Living with this uncertainty requires “an element of creativity,” she says. “How are we going to live life today? I’m thankful for what I’m capable of doing today because I’m aware that it may not be the same tomorrow.”

Chelsey operates by instinct, both in her life and in her approach to her disease and misdiagnosis. “Whenever I meet someone going through a similar journey of misdiagnosis, I tell them to trust their instincts,” she says. “You’re your own best advocate, which means relentlessly pursuing a correct diagnosis.”

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