Neuromyelitis optica spectrum disorder (NMOSD) is a rare, autoimmune disease of the central nervous system characterized by inflammatory lesions that mainly affect the optic nerve(s) and spinal cord.1,2,3 One of the clinical hallmarks of the disease is that it causes relapses, or attacks, that can cause worsening symptoms and neurological disability.3 People with NMOSD must face the challenge of living with the threat of these unpredictable relapses that can reoccur unsuspectingly after days, months or even years.2 They can cause symptoms of blindness, muscle weakness and paralysis–sometimes permanently.4 A few of these people shared their personal stories of what it is like to live with the risk of relapse.
Michelle, a mother of five children, was initially misdiagnosed with multiple sclerosis (MS), which shares many of the symptoms and characteristics of NMOSD. Both autoimmune diseases attack normal central nervous system tissues as foreign, causing inflammation, damage and sometimes optic neuritis.5,6 NMOSD is rarer, and while people living with MS may experience flare-ups of symptoms or relapses, people with NMOSD may not recover as well, often accumulating lasting damage. A blood test for autoantibodies present in most people with NMOSD, called aquaporin-4 autoantibodies (AQP4-IgG), can help correctly diagnose NMOSD.3,6
While NMOSD shares a number of features with MS, a key difference is that NMOSD relapses cause symptoms and disability to accumulate, which is often irreversible.
- Dr. Páris Sidiropoulos, Principal Medical Science Director, Genentech
MARIA & JESUS
Maria and Jesus, her husband of 23 years, have experienced the sudden and lasting impact NMOSD relapses can have on a life, and on a family. Before she was diagnosed with NMOSD in 2006, Maria knew she was sick, but doctors were unable to determine the cause of her condition. In a search for answers, Maria and Jesus flew from the U.S. to Venezuela to visit Jesus’s brother, who is a physician. During the flight, Maria experienced a relapse, leaving her nearly paralyzed on one side of her body. Subsequent relapses further diminished her mobility.
Time and accuracy in diagnosis are essential to the proper treatment of NMOSD. This is especially true given the immense impact relapses have on people living with this condition.
- Professor Jeffrey Bennett, University of Colorado Neurology & Ophthalmology
At the age of 19, Avery was on vacation when she experienced severe eye pain, followed by an intense headache. After experiencing muscle weakness that caused her inability to walk and several trips to the ER, she was diagnosed with optic neuritis, a condition where the optic nerve is inflamed, causing pain and often a temporary loss of vision as well as transverse myelitis, an inflammatory condition causing injury to the spinal cord – leading to her NMOSD diagnosis.3,4 As a normally healthy athlete on a collegiate track scholarship, the news of her diagnosis took a toll on Avery.
Without formal standards for defining NMOSD relapses, there is disparity in the way NMOSD is diagnosed and treated, and in how the condition is evaluated in clinical trials.
- Kathleen Hawker, Group Medical Director, Genentech