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The Winding Road to Diagnosis: My Usher Syndrome Story
by Samantha Murphy
September 18, 2025
A Family History of Vision Loss
My name is Samantha Murphy, and in January 2025, at age 52, I learned that I am going blind. I was diagnosed with Usher Syndrome Type 2A, but what makes my story unique is the long and winding road to that diagnosis.
My brother Michael also has Type 2A. Back in 2007, he was diagnosed with Retinitis Pigmentosa (RP) and told he would eventually lose his sight. It wasn’t until 2021 that he underwent genetic testing to see if he qualified for certain RP studies. The results revealed Usher syndrome, but at the time, the full meaning of the diagnosis wasn’t entirely clear to us.
By January 2023, Michael was declared legally blind. That March, while helping him complete paperwork, I reviewed his genetic test results, and that was the first time I realized the Usher Syndrome diagnosis of USH2A.
A portrait of Samantha Murphy. She is smiling and wearing a blue dress and is standing outside in a courtyard area with plants around her.
Samantha Murphy walks arms linked with her brother, Michael Harries down a courtyard hall. Michael wears a blue suit and is walking with a cane and Samantha wears a black dress.
Missed Signs and Misdiagnoses
As far back as 2007, I asked my ophthalmologist repeatedly if I might also have RP. Despite my family history and symptoms, I was always assured I did not.
Over the years, I noticed troubling changes: difficulty distinguishing colors, especially in poor lighting; increasing reliance on bright light for things like needlepoint; discomfort driving at night; tinnitus; balance issues; and frequent tripping or bumping into things. Each symptom was explained away as aging, aftereffects of LASIK, or clumsiness.
I continued to ask at every visit — even during my children’s appointments — if we might have RP. My concerns were brushed aside so often that I began to feel embarrassed for asking. At one point, after failing simple vision tests in the office, I even panicked, texting my husband: “I think I’m about to get very bad news, and I’m having a panic attack. I couldn’t see in the eye exam.”
Still, my ophthalmologist insisted it wasn’t RP. He suggested that I go to a neurologist for an MRI as it might be a tumor on my optic nerve. And if that came back negative then he said my symptoms must be psychosomatic — stress and worry over my brother’s condition. Once I got my negative result for a tumor, it wasn’t until I sought a second opinion at Bascom Palmer in January of 2025 that I was finally given the correct diagnosis: Retinitis Pigmentosa caused by Usher Syndrome.
Why I Chose Advocacy
My diagnosis didn’t just answer my personal questions, it gave me a mission. I decided to advocate because my story highlights several realities that urgently need attention:
- Misdiagnosis and dismissal: For years, I was ignored, minimized, or brushed aside, even with a strong family history. I don’t want others to go through the same experience;
- Lack of treatment options: There is currently no cure for Usher Syndrome. Research matters, and research needs awareness; and
- Low awareness — even among experts: Usher Syndrome isn’t widely known, not just in the general public but even among doctors and the blind and low-vision community.
Finding a cure depends on people caring, and to care, they first have to be aware. That’s why I launched Blindish in Miami: to add another face and another voice to Usher Syndrome, raise awareness, and help others understand what life with this condition is really like.
Samantha stands at a podium smiling during a Coral Gables Chamber of Commerce event.
Samantha speaking into a microphone at a 305 Hive Media event she is hosting. She is wearing a blue paisley dress and she stands at the front of the room with two other people, next to a podium.
Sean Murphy holds bouldering for blindness fundraiser and awareness event with Michael Harries
Finding Strength and a Way Forward
Looking back, I wish my concerns had been taken seriously sooner. Given my brother’s history, and my symptoms, it seems obvious now that I should have been referred for a second opinion much earlier. Instead, I let my doctor’s confidence override my instincts.
While frustrating, my diagnosis has also given me clarity. I now understand why I’ve struggled in certain situations, and I’ve found empowerment in sharing my story. I’m grateful to the Usher Syndrome Society for providing a platform for people like me to raise awareness, connect with others, and fuel progress toward a cure.
Today, I am focused on continuing the things I love, including playing tennis for as long as I can, and fully embracing advocacy. Through the launch of Blindish in Miami, timed with Usher Syndrome Awareness Day, I am committed to supporting others in the Usher community. I also plan to attend the 2026 Usher Syndrome Convention to continue learning and connecting.
Samantha pictured with two other women, including Virginia Jacko from Miami Lighthouse for the Blind, sponsoring White cane day. At this point, Samantha did not realize she was about to become a client herself.
ABOUT SAMANTHA MURPHY:
Samantha Murphy is the founder and publisher of 305 Hive® Media, a community-based media company in Miami celebrating local culture, events, and connections. Diagnosed with Usher Syndrome Type 2A in 2025, she is the creator of Blindish in Miami, a platform dedicated to raising awareness, sharing resources, and fostering understanding of life with Usher Syndrome.
Follow Samantha on Instagram at @BlindishinMiami or check out her website: www.blindishinmiami.com
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