Feb 1, 2024

Showing the “Love” for Vision Loss Research

When you first meet the Love boys, Kolton, age 6, and Karson, age 5, you find two active, engaging, and curious young boys who enjoy motor-biking, snowmobiling, playing hockey, and spending time with friends. Both boys live a full rambunctious lifestyle despite being affected by a rare genetic condition called Usher syndrome (Type 2) that has caused them to lose their hearing, and in time will cause loss of their sight.

Their parents, Hanna and Kyle Love, founded the Usher Syndrome Warriors Foundation in January 2022 to help families with children diagnosed with this condition. The foundation, in honour of the two boys, recently donated $40,000 to Fighting Blindness Canada (FBC), the largest charitable funder of vision research in Canada that funds promising research into blinding eye disease. In addition to funding research that aims to preserve and restore vision, FBC provides education and resources to individuals living and impacted by vision loss.

Usher syndrome is a rare genetic disease that causes deafness or hearing loss and an eye disease called retinitis pigmentosa (RP). People who have Usher syndrome usually get diagnosed as children or teenagers. It wasn’t until Karson, the couple’s second son, was born that the diagnoses of Usher syndrome was made, and it was found then that both parents carry the gene mutation. This life-changing moment sparked the idea for the foundation.

“We started the foundation so we could donate funds directly to research into Usher syndrome and RP,” Hanna said. “I consulted with those in the medical and research community, including clinicians who specialize in the field of retinal diseases, and they unanimously suggested we support Fighting Blindness Canada.”

Over its 50 year history, FBC has invested in research into inherited retinal diseases like RP. From the identification of genetic causes to testing and gene therapy clinical trials, Canadian researchers have driven vision research forward. One example is researcher Dr. Vince Tropepe (University of Toronto), who used a zebrafish model to study how mutations in the gene Pcdh15b caused vision loss in a form of Usher syndrome (USH1F). As Dr. Tropepe explained,

“Our FBC-funded research allowed us to report the first detailed description of the molecular and structural changes that occur in developing photoreceptors that harbour a Pcdh15 loss of function mutation. This has led to a fundamentally new understanding of the cause of retinopathy in Usher’s patients.”

The Love family raised the funds donated to FBC through the support of their community of Washago, a small town north of Orillia, who participated in golf and slo-pitch tournaments. The Loves are planning even more fundraisers in 2024, in addition to golf and slo-pitch, they are considering a bingo night and day at the local speedway. The couple share,

“We are so blessed and honoured by this outpouring of support. The community keeps growing and there is always a huge support system for our charity. “

As the boys’ hearing has been lost, the family is now focusing on research into new and innovative treatments to prevent or slow down vision loss.

“Vision is a lifeline, and we want our sons to continue to experience life to the fullest”, explained Hanna. “I hope that one day there will be a cure and if our foundation can contribute a small piece to help achieve this, that would mean the world.”

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Access information on the Usher Syndrome Warriors Foundation.

Learn more about Fighting Blindness Canada at fightingblindness.ca