Many rare disease patients face difficulty when it comes to diagnosis. In fact, it takes an average of five to seven years for them to finally receive the correct diagnosis. Aldelly, who is impacted by neuromyelitis optica spectrum disorder (NMOSD), experienced this phenomenon firsthand. While she did not have to wait as long as some rare disease patients, it was still three years until doctors were able to concretely diagnose her condition.
Neuromyelitis optica spectrum disorder is a rare and chronic condition characterized by inflammation of the spinal cord and optic nerve. This leads to episodes of symptoms (attacks) and periods of remission, which can last anywhere from a few weeks to years. These attacks cause pain in the eyes, loss of vision, pain or paralysis in the limbs, diminished control of the bladder and bowels, headaches, sensory loss, stiffness, pain in the back, changes in deep tendon reflexes, and impacted autonomic and motor function. Doctors are unsure what exactly causes these episodes, but they know that NMOSD is an autoimmune condition, meaning the immune system mistakenly attacks the body. Fortunately, there are FDA-approved treatments like Soliris, Enspryng, and Uplinza. Advanced treatment may be necessary during an attack as well; doctors will use corticosteroids and plasma exchange. Immunosuppressants are often prescribed for maintenance.
Aldelly had never experienced any symptoms of NMOSD until 2013, when she was 25. First, she noticed that her foot wasn’t working properly; she couldn’t wear heels like she normally did. This was followed by strange pains, issues with bladder control, and constant fatigue. To address the problems, she visited her doctor. There, her symptoms were dismissed as issues caused by childhood injuries and recently giving birth.
Despite the all-clear from the doctor, Aldelly still felt that something was wrong. She knew her body best, and she knew that a past pregnancy was not causing her symptoms. It was not until she had a complete breakdown at work in 2016 that she was taken seriously by doctors. Exhausted, unable to walk, and frustrated, Aldelly was sent to a neurologist.
Fortunately, the neurologist was able to correctly diagnose her. After three years of confusion and frustration, Aldelly was told she has neuromyelitis optica spectrum disorder. As many NMOSD patients are misdiagnosed with multiple sclerosis, it was lucky that she received the correct diagnosis so quickly.
After a final diagnosis, Aldelly began treatment. Still, she did not want to admit or acknowledge her condition. She hid her condition from friends for some time, brushing off her symptoms as common injuries like twisted ankles. Finally, she decided to bring her friends into her world and tell them about NMOSD.
Now, she has adjusted to life with a rare disease. A strong support system of friends and family, along with other patients from social media, helps Aldelly through it all. While her condition still impacts her life – sometimes she can’t take her sons to football practice or complete other daily activities – she knows that she can handle it and has support if not.
Social media has played a large role in connecting Aldelly with other NMOSD patients, along with advocacy organizations. In fact, she met Sumaira Ahmed, who was also diagnosed with the neurological condition when she was 25. Sumaira is passionate about advocacy and has created the Sumaira Foundation in an effort to find a cure, raise awareness, and fund research into NMOSD.
This organization is not alone in advocating for neuromyelitis optica spectrum disorder. The Connor B. Judge Foundation, Siegel Rare Neuroimmune Association, and the Guthy-Jackson Charitable Foundation all work hard within the community to help patients, promote research, and raise awareness.
Aldelly hopes to continue to work with other patients and organizations to raise awareness and help the NMOSD community. She also focuses on maintaining her own health and wellness, both mentally and physically. Through meditation and other methods, she is working to reduce stress and adapt to life with a rare disease. In the end, she wants to be the best version of herself for her family and support system.
Read her full story here.