My USH Journey

Usher syndrome (USH) is the most common genetic cause of combined deaf-blindness worldwide, affecting approximately 400,000 individuals. I am one of them, and here is my story.

My journey began long before I was aware of it.

At age 4, I was diagnosed with a bilateral, moderately severe sensorineural hearing loss and was fitted with over-the-ear hearing aids.

From ages 5 to 12, I supplemented mainstream schooling with hearing and speech therapy to ensure I mastered English, my second language.

In my teens, I got glasses for myopia or nearsightedness. High school and college were typical: school, sports, early morning 8 am lab classes after a night out, and squinting at eight chalkboards full of chemical structures in a 500-student lecture hall.

In my 20s, my optometrist noticed spicules in the back of my retina but couldn’t provide more information.

In my 30s, I learned about a family history of Usher syndrome.

In my 40s, I was referred to a retina specialist. During my initial visit, it became evident that I knew more about Usher syndrome than he did, but that soon changed.

A few years later, the retina specialist ordered genetic testing through Invitae’s Unlock program, using the Inherited Retinal Disorders (IRD) panel, which covered over 200 genes at the time. Results confirmed mutations in the ADGRV1 gene, associated with USH Type 2C.

While my USH journey was evolving, so was my life. I graduated with a Bachelor’s in Biological Sciences and built a 25-year career in the biotech and life science sectors, starting as a research scientist before transitioning to product management and marketing. I worked at various companies, from biotech start-ups to a Fortune 100 industry titan, managing and growing multi-million dollar portfolios. I also became a mom and raised a family.

However, I wanted to connect with and give back to the Usher community. Growing up with hearing loss taught me perseverance, resilience, and how to overcome adversity. My education and career introduced me to the fascinating world of genetics. These experiences helped me understand and readily accept my Usher syndrome diagnosis, a reaction that I discovered is not typical.

Through my volunteer work with the Usher Syndrome Coalition, I learned that most patients and their families struggle with shock, denial, anxiety, depression, grief, and fear upon receiving the diagnosis. They are often overwhelmed by the complexities of the genetic disorder, including the prognosis, inheritance patterns, research progress, clinical trials, available resources, and accessibility tools.

I began sharing my experiences, knowledge, and insights to assist these patients and families. Realizing the impact I could make, I created this website as a passion project, leveraging my background to develop an additional resource for the community.

Now, at 50, I have volunteered with the Usher Syndrome Coalition for a few years. I have also begun participating in patient advocacy and advisory groups to raise awareness, share research progress, and help advocate for patients with Usher syndrome and other rare genetic diseases.

By sharing my story, becoming more involved in patient advocacy, and volunteering with the Usher Syndrome Coalition, I hope to help others feel more comfortable with their diagnosis and see it as their superpower, not as a disability.