Lia Porcano was born in March 2018—and her parents Rosalyn and Justin could not have been more excited. But when Lia’s newborn screening test came back abnormal, the parents’ concern grew. Within weeks, Rosalyn and Justin discovered that Lia had profound hearing loss; within months, her genetic test results showed that Lia had Usher syndrome type 1B (USH1B) due to MYO7A gene mutations. In a discussion with CBS News Bay Area, Justin and Rosalyn explain that they had two options: feel bad about their daughter’s diagnosis or make a change. They chose the latter.
In particular, the Porcanos chose to focus on research. Rare disease research can be difficult to begin; due to the smaller population sizes, many larger research organizations or drug development companies never get involved. The Porcano family knew that more research was needed—not just into USH1B overall, but into therapeutic interventions.
They reached out to the Foundation Fighting Blindness and said that they would fundraise for the organization under one condition: the money raised would go towards USH1B research. Foundation Fighting Blindness agreed and the Porcanos launched their own organization called Save Sight Now. In addition to sharing events and news, Save Sight Now also collects donations to apply towards research. Since its inception, Save Sight Now has raised almost $2M for USH1B research. You may donate here if you’d like to get involved.
What is Usher Syndrome?
There have been numerous genes associated with the development of Usher syndrome, a rare inherited disorder that may be paired with retinitis pigmentosa (RP). For example, MYO7A, USH3A, and CDH23 have all been implicated in this condition (among others). Usher syndrome causes partial or total hearing loss, as well as progressive vision loss. There are three Usher syndrome subtypes: types I, II, and III. Type I causes severe-to-profound hearing loss at birth, vestibular abnormalities, problems with balance, some motor delays, and hearing loss in childhood. In type II, no vestibular abnormalities are present. Rather, individuals have some hearing loss at birth, as well as progressive vision loss in adolescence and adulthood. Finally, type III is characterized by problems with balance, as well as vision and hearing loss later in life.