diagnosis

My health situation has become incredibly trying recently. I’m hesitant to shed any tears because I fear they won’t stop. When I was diagnosed with neuromyelitis optica spectrum disorder (NMOSD), I was told I might face one or more additional autoimmune diseases in my lifetime. Initially, this warning seemed…

Dear Past Self, I know you were blindsided by this diagnosis. You’re justified in feeling that it’s unfair, because it is. No one around you has heard of neuromyelitis optica (NMO), even the doctors treating you, but I promise that everything will be OK. This is the first…

Since 2008, the global rare disease community has observed Rare Disease Day every year on the last day of February. Currently, there are more than 7,000 known rare diseases affecting up to 30 million, or 1 in 10, Americans. In 2017, my youngest daughter, Bella, was diagnosed…

Glial fibrillary acidic protein (GFAP) and the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) enzyme appear to get shed into the bloodstream in the early stages of neuromyelitis optica spectrum disorder (NMOSD), a study found — suggesting that these blood proteins may one day be used to diagnose the autoimmune disease…

The phoenix is my spirit animal. Out of the ashes it rises, and a new self is born. That’s how I felt after my neuromyelitis optica (NMO) diagnosis, and it’s how I feel every time something changes with this disease. Reinvention is important to my survival, both physically and…

Meeting another patient with neuromyelitis optica (NMO) is a rare occurrence — as rare as this disease. While most of us have incredible support networks, there’s something unparalleled about meeting another person who knows exactly what you’re going through. We don’t have to search for the right words to…

Measuring the retinal nerve layers by a non-invasive tool called optical coherence tomography may help to diagnose neuromyelitis optica spectrum disorder (NMOSD), especially in those who test negative for disease-related antibodies, according to a new study. Researchers found that nerve layers in the retina of people with NMOSD…

In my early 20s, I decided to drop everything and travel across Europe with my close friend Phil. Our trip was memorable for many reasons, including the fact that it was in Italy when I first felt unwell. It was a hot summer, and 14 years ago, most of Europe…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

August 2017 was a busy and exciting time for our family. My youngest daughter, Bella, and I had just spent the weekend helping my oldest daughter move into her dorm room and begin her freshman year of college; my son had just begun his freshman year of high school; Bella…