Help build the movement toward a cure forRNU4 and RNU6 Retinal DiseaseBe counted. Be connected.

Several years after my marriage, my husband began losing his vision from RP and eventually became legally blind. One after another, seven of our eight children began developing the same devastating disease, watching their own vision slowly deteriorate despite years of medical evaluations and genetic testing.

We searched tirelessly for answers, traveling from doctor to doctor, specialist to specialist, and consulting experts across multiple institutions. Yet despite the severity of the disease affecting nearly an entire generation of my family, no one could identify the genetic cause.

Without a diagnosis, there was no clear explanation, no targeted research pathway, and no realistic possibility of treatment.

Everything changed when my son married the granddaughter of a retired physician who became deeply moved by the family's struggle and decided to help pursue the mystery further. Working together with international experts — including Dr. Susanne Roosing in Nijmegen, The Netherlands, and Drs. Carlo Rivolta and Mathieu Quinodoz in Basel, Switzerland — our disease was finally traced to a previously unrecognized genetic cause involving the spliceosomal RNA gene RNU4-2.

The discovery not only provided long-awaited answers for my family, but also helped identify many additional families around the world with the same or closely related mutations affecting RNU4-2 and related RNU6 genes.

What began as our family's odyssey in search of answers became part of a much larger scientific breakthrough benefitting many more families.

I founded CURE4/6 with the goal of transforming that discovery into treatments and ultimately cures for patients affected by RNU4-2 and RNU6 retinal disease. By bringing together families, scientists and clinicians across the world, CURE4/6 seeks to accelerate diagnosis, deepen understanding of disease mechanisms, and advance the development of effective therapies before more vision is lost.