Imagine searching for a diagnosis and thinking you finally found the answer, only to discover that you were misdiagnosed years later. This is Fatmata’s story, and it’s more common than you may think. Fatmata had just graduated college when she experienced – what she now knows was – her first neuromyelitis optica spectrum disorder (NMOSD) attack, leaving her unable to walk. Like others, Fatmata’s NMOSD was misdiagnosed as multiple sclerosis (MS). In fact, one in three people living with a neurological condition like NMOSD were originally misdiagnosed with MS.1 That’s why Fatmata and others are empowering others to advocate for their health.
NMOSD is a rare inflammatory disease of the central nervous system with unpredictable relapses that may lead to cumulative and permanent damage and disability. The condition affects only 15,000 people in the United States and appears to disproportionately affect Black and Asian women in their 30s and 40s.2,3,4 NMOSD is often misdiagnosed as MS because the two conditions share some overlapping symptoms. A lack of general awareness and inconsistent use of definitive diagnostic tools also contribute to misdiagnosis of NMOSD.
Typically, symptoms of NMOSD, such as blindness, muscle weakness and paralysis, come in unpredictable relapses. In addition, people with NMOSD may not recover from an attack as well, leading to cumulative and permanent neurological damage and disability.2 Therefore, a timely and accurate diagnosis and early intervention with treatment to reduce relapses are critical for optimal health outcomes.
While there isn’t a blood test available for diagnosing MS, there is one for NMOSD. Around 70 - 80% of people living with NMOSD have a certain antibody in their blood – aquaporin-4 (AQP4) — that will confirm an NMOSD diagnosis.5 NMOSD is also treated differently than MS. People with MS often receive a disease-modifying therapy that is not only ineffective for the treatment of NMOSD, but may lead to worsening symptoms and exacerbate disability.6
We asked three people from the NMOSD community to share their perspectives and insights, from getting the right diagnosis and treatment to finding the resources and support needed to advocate for their health.
FATMATA: ADVOCATING FOR YOURSELF
After being misdiagnosed with MS and visiting a half dozen doctors in three years searching for answers, finally receiving an accurate diagnosis of NMOSD was a tremendous relief for Fatmata. “I knew in my heart that it wasn’t MS and that I needed to continue to advocate for my health to find correct answers,” says Fatmata. While it can be daunting to receive a diagnosis for a chronic condition, comfort comes with finally knowing what you’re dealing with and working closely with your doctor on an appropriate treatment plan. Fatmata hopes that by sharing her misdiagnosis story, she can inspire others who don’t feel their diagnosis is quite right to be persistent in finding a correct diagnosis.
Fatmata encourages people to “do research, ask questions and be your own health advocate until you find a medical team that best fits your needs.” She also recommends reaching out to advocacy organizations for resources, support, and connections to others living with NMOSD. “My advice to others on the same journey — connect with people online and through social media. This will help you stay positive and affirm the need for self-advocacy throughout your journey. Discovering there are others with similar experiences can be inspiring - it still empowers me every day.”
Since being diagnosed and starting treatment, Fatmata has turned her focus to eating well, exercising, finding a positive community and sharing her story on social media to inspire others to be proactive in their health.
DR. KALINA SANDERS: IMPORTANCE OF OPEN DIALOGUE
For over a decade as a board-certified neurologist at Baptist Health Florida, Jacksonville, Dr. Kalina Sanders has seen her fair share of frustrated people living with NMOSD who were initially misdiagnosed. She discusses similarities between NMOSD and MS symptoms, such as vision loss and numbness or tingling in the legs, that often contribute to a misdiagnosis of MS.
Dr. Sanders emphasizes how important it is for a person living with NMOSD and their doctor to have a solid understanding of the clinical indicators of the disease and maintain open, transparent conversations about symptoms being experienced. “It’s a team effort. You know your body better than anyone. Don’t leave any details about your experience out — they may hold the key to honing in on an accurate diagnosis. On the other hand, healthcare providers also need to have their radar tuned to the possibility of NMOSD because if we misdiagnose the disease, we may do more harm than good,” she says.
It’s imperative that those who live or suspect they live with NMOSD understand their risks and symptoms. This can help people have an informed discussion with their doctor to ensure they receive the best care possible. “The key to treating this condition is preventing relapses, which can lead to very severe and permanent disability,” says Dr. Sanders. “That’s why an accurate, early diagnosis and proper treatment are so important.”
KATHY (CAN DO MS): FINDING YOUR SUPPORT SYSTEM
It can seem daunting to seek help after receiving a diagnosis for a chronic condition like MS or NMOSD — especially if the diagnosis doesn’t feel quite right. Kathy Costello, Vice President of Programs for Can Do MS, a nonprofit organization that delivers health and wellness education programs to help families living with MS thrive, encourages people to reach out to organizations like Can Do MS for support after a diagnosis, even if they have doubts it may not be accurate.
“It's remarkably stressful for people to go through any kind of diagnosis, especially for chronic conditions,” she says. “We’re all in this together and while we may not have all the answers, we can always help point individuals toward more information and resources.” When people in her community find out that their MS diagnosis is wrong, Can Do MS directs them to NMOSD patient advocacy organizations that can provide assistance. “It’s crucial to help people find what they need,” she says.
“Giving people the tools they need to advocate for their health is a high priority for us,” says Kathy. “We realize there’s much we don’t know, so we listen and learn from others to help best meet the needs of all the people in our community.”
Advocacy groups are extremely important for those living with rare diseases, such as NMOSD. NMOSD patient advocacy groups — The Guthy-Jackson Charitable Foundation, Sumaira Foundation, Connor B. Judge Foundation, and Siegal Rare Neuroimmune Association — offer several resources to support the needs of the NMOSD community and those searching for an accurate diagnosis.