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[Pages S6128-S6129]
From the Congressional Record Online through the Government Publishing Office [www.gpo.gov]
USHER SYNDROME AWARENESS
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
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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.
____________________
