My Journey With Usher Syndrome
Usher syndrome is the most common genetic cause of combined deaf-blindness worldwide, affecting an estimated 400,000 people. I am one of them. But like many rare disease journeys, mine began long before I knew there was a name for it.
At four years old, I was diagnosed with a bilateral, moderately severe sensorineural hearing loss. I was fitted with over-the-ear hearing aids, and life moved forward. From ages five to twelve, I balanced mainstream schooling with hearing and speech therapy, working hard to master English, my second language. This was simply my normal.
In my teens, I was prescribed glasses for nearsightedness. High school and college looked much like they did for everyone else. Classes, sports, late nights, early mornings. I remember squinting at chalkboards packed with chemical structures in crowded lecture halls, never imagining those moments held any larger meaning.
In my twenties, during a routine eye exam, an optometrist noticed spicules in the back of my retina. He couldn’t explain what they meant, and neither could I. Life continued.
In my thirties, I learned there was a family history of Usher syndrome. Still, it felt distant, theoretical, something that belonged to someone else’s story rather than mine.
It wasn’t until my forties that the pieces began to connect. I was referred to a retina specialist. During my first visit, it became clear that I knew more about Usher syndrome than he did, at least initially. That quickly changed. A few years later, he ordered genetic testing through Invitae’s Unlock program, using an Inherited Retinal Disorders panel that covered more than 200 genes.
The results confirmed mutations in the ADGRV1 gene, associated with Usher syndrome type 2C.
By then, my life was already full. I had earned a bachelor’s degree in biological sciences and built a 25-year career in biotech and life sciences. I started as a research scientist, then moved into product management and marketing. I worked at early-stage startups and at a Fortune 100 company, managing and growing multimillion-dollar portfolios. I also became a mother and raised a family.
In many ways, my diagnosis felt less like a shock and more like an explanation.
Growing up with hearing loss had already taught me perseverance and resilience. My education and career had immersed me in genetics and biology. Together, these experiences helped me understand and accept my Usher syndrome diagnosis in a way I later learned is not typical.
Through my volunteer work with the Usher Syndrome Coalition, I saw that many patients and families experience something very different. Shock. Denial. Anxiety. Depression. Grief. Fear. They are often overwhelmed, not just by the diagnosis itself, but by the complexity that comes with it. Prognosis. Inheritance patterns. Research updates. Clinical trials. Resources. Accessibility tools. It’s a lot to absorb, especially all at once.
I began sharing what I knew, including my experiences, my background, my perspective. Over time, I realized how much impact that could have. That realization led me to create this website as a passion project, a place to bring information, clarity, and connection together for the community.
Now, at 50, I’ve been volunteering with the Usher Syndrome Coalition for several years. I participate in patient advocacy and advisory groups, working to raise awareness, share research progress, and advocate not only for those with Usher syndrome, but for the broader rare genetic disease community.
My hope in sharing this story is simple. I want others to feel less alone. More informed. More empowered. A diagnosis can be heavy, but it can also be reframed. I see Usher syndrome not as a limitation, but as part of what has shaped my resilience, curiosity, and purpose.
If this journey has taught me anything, it’s that knowledge matters, community matters, and progress, however incremental, can change how we see ourselves and our futures.