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Why awareness is the key to managing NMOSD

A swift and accurate diagnosis is crucial when treating any disease, but especially a rare one. Sadly, people with particularly rare diseases that present like more recognisable conditions face a real danger of misdiagnosis.

“When I was 12, I had pain in my eyes,” explains Sofia Knutsson, a patient with neuromyelitis optica spectrum disorder (NMOSD) in Sweden. “The doctors gave me eyedrops, but within two days I had lost almost all the sight in my right eye. They didn’t know what was happening. It was really scary.”

For Sofia, on that scary day began her ongoing battle with NMOSD. This rare and debilitating autoimmune disease attacks the optic nerve, spinal cord, and brain stem. Patients suffer painful and unpredictable relapses that can build to cause permanent blindness, paralysis, and even death. Left untreated, half of those living with NMOSD will be wheelchair dependant or lose their vision. 

Like so many diseases, an accurate and timely diagnosis is important in managing the disease. But with so little known about NMOSD, nearly half of sufferers are initially misdiagnosed, often with lookalike multiple sclerosis (MS).

Sofia Knutsson and Annika Bengtsson Knutsson, Sofia’s mother, ©Lovisa Furubo Andersson 2023

In fact, doctors first thought Sofia had MS or possibly a brain tumour. Then, after further tests, Sofia was told she had neurosarcoidosis, a chronic inflammatory disorder. Unfortunately, Sofia’s experience of repeated misdiagnoses isn’t unusual.

“I lived with that misdiagnosis for years,” she says.

When Sofia went to university, she found a new neurologist who questioned her diagnosis. Finally, she was correctly diagnosed with NMOSD.

“Now, I’m doing quite well.”

In many ways, NMOSD can be an invisible disease. That’s why it’s important to raise people’s awareness.

Armed with the right diagnosis, Sofia and her care team are able to better manage her disease. She considers herself quite lucky: she has a definite diagnosis; her symptoms could be worse; and she has a strong support network of fiancée, family, and friends.

“In many ways, NMOSD can be an invisible disease,” she says. “It doesn’t always show, and you might not look sick, even though you are battling some serious things. That’s why it’s important to raise people’s awareness.”

This is especially true within the medical profession, so others need not suffer as long as Sofia did with the wrong diagnosis. Oftentimes, doctors are taught that when they hear hoofbeats, expect horses, not zebras. That’s fine in most cases, but when it comes to a rare disease, knowing and being willing to look for the unusual is critical. Fortunately, there are people and organisations working towards raising awareness of this. Horizon Therapeutics is one. It is a patient-driven, global biotechnology company focused on identifying solutions to address typically neglected diseases. It is working to provide treatments and support for people suffering from rare, autoimmune, and severe inflammatory diseases, including NMOSD.

Horizon sees its work as much more than just about the science and the development of its own therapies. The company’s deep compassion for all those living with rare diseases is why it is committed to building up and supporting rare disease communities and organisations, including The Sumaira Foundation for which Sofia is an ambassador.

This March, Horizon will mark NMOSD Awareness Month by launching NMOSD in Focus — a European campaign aimed at raising awareness of NMOSD and its impact on people living with this devastating, often misdiagnosed disease. Horizon, like Sofia, hopes to help lift NMOSD out of the shadows, so that more people get the critical, life-altering diagnosis they need.

Sofia Knutsson, ©Lovisa Furubo Andersson 2023

© 2023 Horizon Therapeutics plc
C-HZN-EU-00027 02/23

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Hero image: Sofia Knutsson, ©Lovisa Furubo Andersson 2023

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