Taking on Life With A Rare Disorder

On an otherwise typical Friday, Anthy was driving home from work when her life changed. She felt what she describes as a “pop” in her head. What followed were a series of more severe symptoms: a headache lasting four days, blurred vision and loss of control over her bladder.

After several emergency room visits, Anthy was eventually diagnosed with neuromyelitis optica spectrum disorder, or NMOSD, a rare autoimmune disorder of the central nervous system. During NMOSD attacks, antibodies can damage the spinal cord and/or the optic nerves. Though similar to multiple sclerosis (MS), NMOSD is more rare and its attacks are more severe.

People living with the condition also experience unpredictable and severe relapses. Over time, these relapses or attacks can cause permanent neurological damage and physical impairment, including blindness, rapid progression of disability, and in some cases, lower body paralysis.^[i]

A Challenging Diagnosis

Like many other people living with NMOSD, Anthy’s road to diagnosis was challenging. Today, there are roughly 1,000 to 3,000 people in Canada living with NMOSD^[ii], with the disease being most common among women in their 20s to 40s. Due to its low incidence and the fact that the symptoms are similar to MS, those living with NMOSD often go months or years without a proper diagnosis.

Despite the clouded vision and pain she experienced during her first attack, Anthy was sent home from the emergency room several times without a clear picture of what was happening. She was eventually referred to an optometrist for her vision-related symptoms, who then recommended she get tested for NMOSD, a condition she hadn’t heard of until that day. After several weeks of tests, including CT scans and a lumbar puncture, Anthy was diagnosed with NMOSD.

The condition began to derail Anthy’s life in several ways. Along with giving up work and travel, including seeing her family in Greece, she and her husband had to put plans for starting their own family on hold. On days when symptoms are extreme, her skin is ultra-sensitive – any light touch, including water from the shower, causes severe pain and discomfort. Her legs may at times also feel heavy, impacting her mobility.

Given these challenges, and the lack of awareness about NMOSD, Anthy initially looked online for support to understand and cope with her new diagnosis. Unfortunately, the outlooks provided online are often grim and not necessarily true of every person with NMOSD.

Luckily, Anthy did find some patient support groups on social media to lean on. Finding others like her, including one group specifically for women with NMOSD, has been integral to helping her cope with her diagnosis. As she has had to see new types of specialists or get additional tests, others with NMOSD have helped her know what to expect. Today, she’s returning the favour by supporting other members of the online group. Closer to home, her husband (now her primary supporter) has also provided crucial support, standing by her side as her experience changes from day to day.

Taking on Uncertainty with Confidence

One of her biggest lessons has been to listen closely to her body and adjust her activities each day accordingly. And, despite NMOSD changing her life plans, with help from patient support groups and treatment that is keeping her relapses at bay, Anthy feels more in control, and her outlook is more positive. Now, she’s taking time to explore new hobbies, including painting, which helps her cope.

Preventing relapses through early maintenance treatment can have a positive impact on preventing disability, and is the primary goal for NMOSD disease management. Although significant strides have been made recently in understanding NMOSD, more approved treatment options are urgently needed. Fortunately, research is progressing, with more options available to patients.

Historically, conditions of the nervous system, like NMOSD, have been incredibly complex to understand and to treat. This is why it’s important to understand the biology of the disease and the nervous system to help patients with chronic, potentially devastating illnesses, including NMOSD.

At Roche, we are committed to playing a significant part in this advancement, taking an innovative approach to research and development. Despite the considerable success in understanding NMOSD more deeply, researchers and scientists are continuing to work hard to reveal more about this complex condition.

Slowing – or even one day, reversing – the progression of these diseases can be a gamechanger. For people with NMOSD like Anthy, it means hope for healthier, more fulfilling years ahead.

References

[i] Chihara N, Aranami T, Sato W, Miyazaki Y, Miyake S, Okamoto T, et al. Interleukin 6 signalling promotes antiaquaporin 4 autoantibody production from plasmablasts in neuromyelitis optica. Proc Natl Acad Sci USA. 2011; 108: 3701–6.

[ii] Roche Data on File.