Usher Syndrome Awareness

Floor Speech

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Mr. WYDEN. Mr. President, I wish to bring attention to a genetic condition known as Usher syndrome. Usher syndrome is the most common form of combined deafness and blindness in the United States, impacting as many as 50,000 Americans, not including their families, friends, and communities. It is estimated that 82 percent of those afflicted by deaf-blindness are unemployed. In the United States, the annual economic cost of blindness alone is estimated at 145 billion dollars.

Usher syndrome results when there are mutations in genes that are important for the function of both photoreceptors in the retina and hair cells in the cochlea, or inner ear. To date, 11 genes have been identified that can cause different subtypes of Usher syndrome when mutations take place. These mutations usually lead to a deficiency of a protein that is critical for the health and function of the retina and cochlea. Usher type 1 individuals are born deaf and then learn, often before adolescence, that they are also losing their vision. Usher type 2 individuals are born with moderate to severe hearing loss and then in the prime of their adolescent lives are told that they are losing their vision. Usher type 3, usually diagnosed during adolescence, leads to the slow loss of both hearing and vision.

Life with Usher syndrome requires constant adaptation to the loss of vision, caused by retinitis pigmentosa. First is the loss of peripheral vision, when the rods are impacted resulting in the loss of night vision and the onset of tunnel vision, which shrinks over time to the size of a pinhole. Once the rods are gone, the cones atrophy. Color vision and the ability to read lips are lost, further impacting the hearing impaired Usher syndrome individual's ability to communicate with others. Often, central vision fades and the person is left completely blind.

During this time--for which there is no prediction of how long the decline to total blindness will take--individuals with Usher syndrome are constantly adapting to remain aurally and visually connected. For the hearing loss, hearing aids, cochlear implants, American Sign Language, closed captioning, assistive listening devices, and tactile sign language are among the adaptive strategies used. For the vision loss, glasses, magnification, high contrast on computer screens, screen readers, audio descriptive devices, braille, canes, and guide dogs are used to compensate for the increasing blindness.

To accelerate research, the Usher Syndrome Coalition is raising public knowledge by launching ``Usher Syndrome Awareness Day'' on the third Saturday in September. The theme centers on the autumnal equinox, which marks the start of days that contain more darkness than light--a powerful metaphor for the threat of Usher syndrome. This will be a global event that starts on one side of the world--Australia--and runs around the globe to the farthest point before the international dateline in Alaska.

Like many, I too have a personal connection with Usher syndrome. A former congressional fellow in my office, Moira Shea, has Usher syndrome. She, with her guide dog by her side, took the Metro and came to work every day. In addition, she wore hearing aids, read lips, and overcame whatever adversity came her way. Today, Moira has lost her sight but not her vision--of finding treatments and cures for Usher syndrome so that no other generation has to go through what she and tens of thousands of other Americans have.

With the acceleration of research, it may be possible for Moira and the thousands of others afflicted by this genetic disease to regain sight. The technology is there. The Casey Eye Institute at Oregon Health & Science University has started the first human study of gene therapy for Usher syndrome. I am proud that the first clinical trial for Usher syndrome is being conducted in the state that I am privileged to represent.

I am committed to working with my colleagues to raise awareness about this devastating disease, and I applaud the hard work of the Usher Syndrome Coalition to make Usher syndrome research a higher priority at the National Institutes of Health.

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