Usher Syndrome Coalition – All Things Good

A Seeing Eye, a Listening Ear: In Honor of Usher Syndrome Awareness Day

Katharine Rose Rose's Ridge September 8, 2017September 15, 2017Usher Syndrome, Usher Syndrome Awareness Day, Usher Syndrome Coalition, usher syndrome facts, Usher syndrome research, Usher syndrome treatment, usher syndrome type 2a 1 Comment

The beloved children’s television host Mister Rogers once said,

“The gifts we treasure most over the years are often small and simple. In easy times and tough times, what seems to matter most is the way we show those nearest us that we’ve been listening to their needs, to their joys, and to their challenges.”

Indeed, the essence of life seems always to come down to the small and simple things, to the things we often don’t think about, the things we take for granted, the things we forget are gifted to us as human beings: our ability to see and hear, taste and smell, walk and breathe.

I am gently reminded of such gifts each time I play hide-and-seek with my three-year-old niece, Emma, who was diagnosed with Usher Syndrome (type 2A) – the most common genetic cause of combined deafness and blindness – two years ago. Hiding together while her older sister counts to ten, she mimics my “shhh”, only to let out a squeal, revealing our location and screaming in delight at the sight of her sister. Equally delighted by the sound of music, Emma is a natural entertainer, grabbing her microphone and eliciting howls of laughter with her wild dance moves. How precious the gifts of sight and sound truly are. Read more

Shining A Hopeful Light on Usher Syndrome

Katharine Rose Rose's Ridge September 16, 2015April 5, 2017Hearing loss, Rebecca Alexander Usher Syndrome, retinitis pigmentosa, Usher Syndrome, Usher Syndrome Awareness Day, Usher syndrome causes, Usher syndrome children, Usher Syndrome Coalition, Usher syndrome research, Usher syndrome symptoms, Usher syndrome treatment 1 Comment

When I think of Emma, my 1-year-old niece and goddaughter, I think of her big, bright blue, angelic eyes. They are staring up at me, at seven months old, trusting, innocent eyes that eventually succumb to the spellbinding power of sleep in the arms of someone she had not yet come to know.

I remember thinking how miraculous it was that, at such a young age, babies could not only convey a feeling, thought or emotion with one simple look, but could gaze so deeply, so intently, as if, for a moment, they were imparting years of life wisdom that we typically only acquire with age.

It was her eyes in this moment that flashed through my mind as I learned three months later that her hearing loss would not be the only challenge that she would come to face. That what had once seemed like an unlikely possibility had revealed itself as a new reality when the test results diagnosed her with Usher Syndrome – the most common cause of combined deafness and blindness that affects about four babies in every 100,000 births. An inherited disease, it is thought to be responsible for about three to six percent of all childhood deafness and about 50 percent of deaf-blindness in adults. Read more