Marie Abrego, a person with neuromyelitis optica spectrum disorder (NMOSD), and Wendy Erler, Vice President of Patient Experience at Alexion Pharmaceuticals Inc, discuss getting diagnosed with NMOSD and finding support.
NMOSD is a rare autoimmune disorder that largely affects the spinal cord and optic nerves. Symptoms include pain, weakness, bowel and bladder problems, and temporary vision loss. NMOSD usually occurs in adulthood, but symptoms may start at any age. Some people have a single attack of symptoms lasting months, but in most people the symptoms come and go over time. People with NMOSD may develop permanent muscle weakness and vision loss.
Ms. Abrego was diagnosed with NMOSD at the age of 15 after going blind in both eyes. After seeing an adult neurologist, testing was done for the AQP4 antibody, a common indication of NMOSD. Following an initial negative result, Ms. Abrego’s neurologist confirmed her diagnosis after being laid off steroids and retested, resulting in a positive AQP4 test. Due to the severity of symptoms, her diagnosis came much quicker than most people with NMOSD, who are often misdiagnosed with multiple sclerosis.
Current management of NMOSD is varied by patient and several therapies are now approved for this rare condition. These treatments include eculizumab, inebilizumab, satralizumab, and ravulizumab. However, as Ms. Abrego explains, there are still unmet needs in the NMOSD community. Experts are few and far between, resulting in long hours of travel for some patients to receive the proper treatment.
Patients with NMOSD can find community and support through patient organizations such as The Sumaira Foundation, Guthy Jackson Charitable Foundation, and The Siegal Neuroimmune Association (SRNA). These groups work to provide information and resources to those diagnosed with NMOSD.
The Rare Connections in NMOSD short film was created with the goal to lift up patient voices, connect patients within the NMOSD community, and educate on the importance of timely diagnosis and access to care. Check out the Rare Connections in NMOSD short film here.
To learn more about NMOSD and other rare ophthalmology diseases, visit https://checkrare.com/diseases/ophthalmology-eye-diseases/
